Panther_Function Panther_Process Species Source Search_Key Transcript ILMN_Gene Source_Reference_ID RefSeq_ID Unigene_ID Entrez_Gene_ID GI Accession Symbol Protein_Product Probe_Id Array_Address_Id Probe_Type Probe_Start Probe_Sequence Chromosome Probe_Chr_Orientation Probe_Coordinates Cytoband Definition Ontology_Component Ontology_Process Ontology_Function Synonyms Obsolete_Probe_Id Signaling molecule -> Cytokine -> Other cytokine;Select regulatory molecule -> Protease inhibitor -> Serine protease inhibitor Protein metabolism and modification -> Proteolysis;Signal transduction -> Cell communication -> Ligand-mediated signaling;Immunity and defense Homo sapiens RefSeq ILMN_8023 ILMN_8023 A2M NM_000014.4 NM_000014.4 2 66932946 NM_000014.4 A2M NP_000005.2 ILMN_1745607 2370438 S 4524 CTTGGAAATGCTTGAAGACCACAAGGCTGAAAAGTGCTTTGCTGGAGTCC 12 - 9111650-9111685:9111686-9111699 12p13.31a "Homo sapiens alpha-2-macroglobulin (A2M), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 59727] [evidence EXP]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The volume enclosed by the membrane of the platelet alpha granule [goid 31093] [pmid 59727] [evidence EXP]" "The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer [goid 51260] [evidence NAS]" "Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [evidence IEA]; [goid 17114] [evidence IEA]; Interacting selectively with any enzyme [goid 19899] [pmid 11435418] [evidence IPI]; Interacting selectively with interleukin-8 [goid 19959] [pmid 10880251] [evidence IPI]; Interacting selectively with interleukin-1 [goid 19966] [pmid 9714181] [evidence IDA]; Interacting selectively with tumor necrosis factor, a proinflammatory cytokine produced by monocytes and macrophages [goid 43120] [pmid 9714181] [evidence IDA]" alpha 2M; CPAMD5; S863-7; FWP007; DKFZp779B086 CPAMD5; S863-7; FWP007; alpha 2M; DKFZp779B086 Transferase -> Acetyltransferase Other metabolism Homo sapiens RefSeq ILMN_15024 ILMN_15024 NAT2 NM_000015.2 NM_000015.2 10 116295259 NM_000015.2 NAT2 NP_000006.2 ILMN_1670903 620626 S 1191 GGCATTTTAAGGATGGCCTGTGATTATCTTGGGAAGCAGAGTGATTCATG 8 + 18302877-18302926 8p22a "Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 1559981] [evidence EXP]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the reaction: acetyl-CoA + an arylamine = CoA + an N-acetylarylamine [goid 4060] [evidence IEA]; Catalysis of the transfer of an acetyl group to an acceptor molecule [goid 16407] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: acetyl-CoA + an arylamine = CoA + an N-acetylarylamine [goid 4060] [pmid 2340091] [evidence TAS]; Catalysis of the transfer of an acetyl group to an acceptor molecule [goid 16407] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" AAC2 AAC2 Oxidoreductase -> Dehydrogenase Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Acyl-CoA metabolism;Electron transport Homo sapiens RefSeq ILMN_161879 ILMN_161879 ACADM NM_000016.2 NM_000016.2 34 21327681 NM_000016.2 ACADM NP_000007.1 ILMN_2053679 2470279 S 2088 GACTGTTGGTCTCTAGGTAGCCTTTGGTCTATTGTACACAATCTCATTTC 1 + 76001667-76001716 1p31.1g "Homo sapiens acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain (ACADM), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 1731887] [evidence TAS]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis [goid 6631] [evidence IEA]; The metabolic oxidation of a long-chain fatty acid by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A [goid 6635] [pmid 2393404] [evidence IMP]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor [goid 3995] [pmid 2393404] [evidence IMP]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [evidence IEA]" MCADH; ACAD1; MCAD MCADH; ACAD1; MCAD Oxidoreductase -> Dehydrogenase Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Acyl-CoA metabolism;Electron transport Homo sapiens RefSeq ILMN_11293 ILMN_11293 ACADS NM_000017.1 NM_000017.1 35 4557232 NM_000017.1 ACADS NP_000008.1 ILMN_1795104 110441 S 1467 CCTCCTCACCACTGTGCCTCAAGTTCCTCATCTAAGTGGCCCTGGCTCCT 12 + 119661840-119661889 12q24.31a "Homo sapiens acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 16729965] [evidence IDA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis [goid 6631] [evidence IEA]; The metabolic oxidation of a long-chain fatty acid by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A [goid 6635] [pmid 8276399] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: butanoyl-CoA + ETF = 2-butenoyl-CoA + reduced ETF [goid 4085] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [evidence IEA]" SCAD; ACAD3 SCAD; ACAD3 Oxidoreductase -> Dehydrogenase Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Acyl-CoA metabolism;Electron transport Homo sapiens RefSeq ILMN_177769 ILMN_177769 ACADVL NM_000018.2 NM_000018.2 37 76496473 NM_000018.2 ACADVL NP_000009.1 ILMN_2263466 610093 I 303 AGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAG 17 + 7064520-7064569 17p13.1d "Homo sapiens acyl-Coenzyme A dehydrogenase, very long chain (ACADVL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 7668252] [evidence TAS]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis [goid 6631] [evidence IEA]; The metabolic oxidation of a long-chain fatty acid by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A [goid 6635] [pmid 7668252] [evidence TAS]; [goid 15980] [pmid 7479827] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF [goid 4466] [pmid 8466512] [evidence TAS]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [evidence IEA]" ACAD6; VLCAD; LCACD ACAD6; VLCAD; LCACD Oxidoreductase -> Dehydrogenase Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Acyl-CoA metabolism;Electron transport Homo sapiens RefSeq ILMN_177769 ILMN_177769 ACADVL NM_000018.2 NM_000018.2 37 76496473 NM_000018.2 ACADVL NP_000009.1 ILMN_2352009 1240551 A 1830 ATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTAT 17 + 7068685-7068734 17p13.1d "Homo sapiens acyl-Coenzyme A dehydrogenase, very long chain (ACADVL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 7668252] [evidence TAS]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis [goid 6631] [evidence IEA]; The metabolic oxidation of a long-chain fatty acid by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A [goid 6635] [pmid 7668252] [evidence TAS]; [goid 15980] [pmid 7479827] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF [goid 4466] [pmid 8466512] [evidence TAS]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [evidence IEA]" ACAD6; VLCAD; LCACD ACAD6; VLCAD; LCACD Transferase -> Acetyltransferase Protein metabolism and modification -> Protein modification -> Protein acetylation Homo sapiens RefSeq ILMN_29522 ILMN_164459 ACAT1 NM_000019.2 NM_000019.2 38 31563501 NM_000019.2 ACAT1 NP_000010.1 ILMN_1800008 2070605 S 1237 TGGGATGTCTGGAGCCAGGATTGTTGGTCATTTGACTCATGCCTTGAAGC 11 + 107522294-107522296:107523207-107523253 11q22.3c "Homo sapiens acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) (ACAT1), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 1715688] [evidence TAS]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 79130356] [evidence EXP]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 3709573] [evidence EXP]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: 2 acetyl-CoA = CoA + acetoacetyl-CoA [goid 3985] [pmid 1979337] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of an acetyl group to an acceptor molecule [goid 16407] [pmid 3709573] [evidence EXP]; Catalysis of the transfer of an acetyl group to an acceptor molecule [goid 16407] [pmid 79130356] [evidence EXP]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" MAT; ACAT; THIL; T2 MAT; ACAT; THIL; T2 Receptor -> Cytokine receptor -> TGF-beta receptor;Receptor -> Protein kinase receptor -> Serine/threonine protein kinase receptor;Kinase -> Protein kinase -> Serine/threonine protein kinase receptor Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein serine/threonine kinase signaling pathway Homo sapiens RefSeq ILMN_5692 ILMN_5692 ACVRL1 NM_000020.1 NM_000020.1 94 4557242 NM_000020.1 ACVRL1 NP_000011.1 ILMN_1807493 4610746 S 1664 TCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCT 12 + 50600813-50600862 12q13.13c "Homo sapiens activin A receptor type II-like 1 (ACVRL1), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 18029348] [evidence IDA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8242742] [evidence IDA]; The external part of the cell wall and/or plasma membrane [goid 9986] [pmid 8242742] [evidence IDA]" "Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels [goid 1525] [pmid 16752392] [evidence IMP]; The process of introducing a phosphate group on to a protein [goid 6468] [pmid 12065756] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell adhesion [goid 7162] [pmid 12453878] [evidence IMP]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 15702480] [evidence IDA]; The series of molecular signals generated as a consequence of a transforming growth factor beta receptor binding to one of its physiological ligands [goid 7179] [pmid 15702480] [evidence IDA]; The process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure [goid 8217] [pmid 14684682] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 12453878] [evidence IMP]; Any process that decreases the rate, frequency, or extent of the orderly movement of endothelial cells into the extracellular matrix to form an endothelium [goid 10596] [pmid 17068149] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell growth [goid 30308] [pmid 17068149] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of BMP signaling pathway activity [goid 30513] [pmid 17068149] [evidence IDA]; The migration of epithelial cells along or through a wound gap to reestablish a continuous epithelium [goid 35313] [pmid 12453878] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of transcription [goid 45941] [pmid 12393874] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions [goid 51895] [pmid 12453878] [evidence IMP]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 12065756] [evidence IDA]; Combining with activin-bound type II activin receptor to initiate a change in cell activity; upon binding, acts as a downstream transducer of activin signals [goid 16361] [pmid 8242742] [evidence TAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with manganese (Mn) ions [goid 30145] [evidence IEA]; Interacting selectively with a SMAD signaling protein [goid 46332] [pmid 12065756] [evidence IDA]; Interacting selectively with activin, a dimer of inhibin-beta subunits [goid 48185] [pmid 8242742] [evidence IDA]; Interacting selectively with TGF-beta, transforming growth factor beta, a multifunctional peptide that controls proliferation, differentiation and other functions in many cell types [goid 50431] [pmid 8242742] [evidence IPI]" ORW2; HHT; ALK-1; ALK1; SKR3; HHT2; ACVRLK1 ORW2; HHT; ALK-1; ALK1; SKR3; HHT2; ACVRLK1 Protease -> Aspartic protease Protein metabolism and modification -> Proteolysis;Signal transduction -> Cell surface receptor mediated signal transduction -> Other receptor mediated signaling pathway Homo sapiens RefSeq ILMN_28849 ILMN_28849 PSEN1 NM_000021.2 NM_000021.2 5663 21536454 NM_000021.2 PSEN1 NP_000012.1 ILMN_1809193 4850725 I 43 AAAACAGCGGCTGGTCTGGAAGGAACCTGAGCTACGAGCCGCGGCGGCAG 14 + 72672974-72673023 14q24.2b "Homo sapiens presenilin 1 (Alzheimer disease 3) (PSEN1), mRNA." "The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules [goid 776] [pmid 9298903] [evidence TAS]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 8878479] [evidence TAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; Located such that some or all of the gene product itself penetrates at least one phospholipid bilayer of the nuclear inner membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5639] [pmid 9298903] [evidence TAS]; The outer, i.e. cytoplasm-facing, lipid bilayer of the nuclear envelope; continuous with the endoplasmic reticulum of the cell and sometimes studded with ribosomes [goid 5640] [pmid 9246482] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 12377771] [evidence IDA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 15274632] [evidence IDA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 15274632] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 15274632] [evidence IDA]; The external part of the cell wall and/or plasma membrane [goid 9986] [evidence IEA]; The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter [goid 30424] [evidence IEA]; A branching protoplasmic process of a neuron that receive and integrate signals coming from axons of other neurons, and convey the resulting signal to the body of the cell [goid 30425] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]; A cytoskeleton-like structure, originating from the basal body at the proximal end of a cilium, and extending proximally toward the cell nucleus. Rootlets are typically 80-100 nm in diameter and contain cross striae distributed at regular intervals of approximately 55-70 nm [goid 35253] [evidence IEA]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [evidence IEA]" "The process whose specific outcome is the progression of the blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood [goid 1568] [evidence IEA]; The process involved in the specification of cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment [goid 1708] [evidence IEA]; The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo [goid 1756] [evidence IEA]; The characteristic movement of immature neurons from germinal zones to specific positions where they will reside as they mature [goid 1764] [evidence IEA]; Any process that stops, prevents or decreases the rate of addition of phosphate groups to amino acids within a protein [goid 1933] [evidence IEA]; The characteristic morphogenetic movements where the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceeding their future integration [goid 1947] [evidence IEA]; The process whereby precursor cell type acquires the specialized features of a hemopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells [goid 2244] [evidence IEA]; The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response [goid 2286] [evidence IEA]; The process whereby a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage [goid 2573] [evidence IEA]; The addition of a sugar unit to a protein amino acid, e.g. the addition of glycan chains to proteins [goid 6486] [evidence IEA]; The proteolytic cleavage of transmembrane proteins and release of their ectodomain (extracellular domain) [goid 6509] [pmid 15274632] [evidence IDA]; A process which directly inhibits any of the steps required for cell death by apoptosis [goid 6916] [pmid 10805794] [evidence TAS]; The process by which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets [goid 7059] [pmid 10206644] [evidence TAS]; Any process that modulates the frequency, rate or extent of EGF receptor activity [goid 7176] [evidence IEA]; The series of successive proteolytic cleavage events that take place after a Notch receptor binds a ligand, and which lead to the release of the Notch Intracellular Domain (NICD), which is the active form of the receptor [goid 7220] [pmid 15274632] [evidence TAS]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task) [goid 7613] [evidence IEA]; The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant [goid 9790] [evidence IEA]; The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development [goid 9791] [evidence IEA]; The attachment of one cell to another cell via adhesion molecules [goid 16337] [pmid 11953314] [evidence IMP]; The posttranslational modification of a protein, particularly secretory proteins and proteins targeted for membranes or specific cellular locations [goid 16485] [pmid 15274632] [evidence IDA]; The process by which the neural tube is regionalized in the dorsoventral axis [goid 21904] [evidence IEA]; The process, occurring in the embryo, by which the anatomical structures of the limb are generated and organized. Morphogenesis pertains to the creation of form. A limb is an appendage of an animal used for locomotion or grasping [goid 30326] [evidence IEA]; The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) [goid 30900] [evidence IEA]; Self-propelled movement of a cell or organism from one location to another [goid 40011] [evidence IEA]; Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule [goid 42325] [pmid 9689133] [evidence IDA]; The growth phase of the hair cycle. Lasts, for example, about 3 to 6 years for human scalp hair [goid 42640] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of amyloid precursor protein (APP), the precursor of beta-amyloid, a glycoprotein associated with Alzheimer's disease [goid 42987] [pmid 15274632] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of cell death by apoptosis [goid 43065] [evidence IEA]; Any process that activates or increases the activity of an enzyme [goid 43085] [pmid 15274632] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of protein kinase activity [goid 45860] [evidence IEA]; A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers [goid 48167] [evidence IEA]; The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components [goid 48538] [evidence IEA]; The process by which the anatomical structures of brain are generated and organized. Morphogenesis pertains to the creation of form. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 48854] [evidence IEA]; The chemical reactions and pathways involving beta-amyloid, a glycoprotein associated with Alzheimer's disease, and its precursor, amyloid precursor protein (APP) [goid 50435] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of coagulation [goid 50820] [evidence IEA]; A series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell [goid 50852] [evidence IEA]; The regulation of the levels, transport, and metabolism of calcium ions within the smooth endoplasmic reticulum of a cell or between the smooth endoplasmic reticulum and its surroundings [goid 51563] [evidence IEA]" "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain [goid 4175] [pmid 8755489] [evidence IDA]; Interacting selectively with the beta subunit of the catenin complex [goid 8013] [pmid 11104755] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" PS1; AD3; FAD; S182 PS1; AD3; FAD; S182 Protease -> Aspartic protease Protein metabolism and modification -> Proteolysis;Signal transduction -> Cell surface receptor mediated signal transduction -> Other receptor mediated signaling pathway Homo sapiens RefSeq ILMN_762 ILMN_28849 PSEN1 NM_000021.2 NM_000021.2 5663 21536454 NM_000021.2 PSEN1 NP_000012.1 ILMN_1796669 5700538 A 1352 CCTCGCTGGTGAAGACCCAGAGGAAAGGGGAGTAAAACTTGGATTGGGAG 14 + 72748378-72748403:72753587-72753610 14q24.2b "Homo sapiens presenilin 1 (Alzheimer disease 3) (PSEN1), mRNA." "The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules [goid 776] [pmid 9298903] [evidence TAS]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 8878479] [evidence TAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; Located such that some or all of the gene product itself penetrates at least one phospholipid bilayer of the nuclear inner membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5639] [pmid 9298903] [evidence TAS]; The outer, i.e. cytoplasm-facing, lipid bilayer of the nuclear envelope; continuous with the endoplasmic reticulum of the cell and sometimes studded with ribosomes [goid 5640] [pmid 9246482] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 12377771] [evidence IDA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 15274632] [evidence IDA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 15274632] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 15274632] [evidence IDA]; The external part of the cell wall and/or plasma membrane [goid 9986] [evidence IEA]; The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter [goid 30424] [evidence IEA]; A branching protoplasmic process of a neuron that receive and integrate signals coming from axons of other neurons, and convey the resulting signal to the body of the cell [goid 30425] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]; A cytoskeleton-like structure, originating from the basal body at the proximal end of a cilium, and extending proximally toward the cell nucleus. Rootlets are typically 80-100 nm in diameter and contain cross striae distributed at regular intervals of approximately 55-70 nm [goid 35253] [evidence IEA]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [evidence IEA]" "The process whose specific outcome is the progression of the blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood [goid 1568] [evidence IEA]; The process involved in the specification of cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment [goid 1708] [evidence IEA]; The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo [goid 1756] [evidence IEA]; The characteristic movement of immature neurons from germinal zones to specific positions where they will reside as they mature [goid 1764] [evidence IEA]; Any process that stops, prevents or decreases the rate of addition of phosphate groups to amino acids within a protein [goid 1933] [evidence IEA]; The characteristic morphogenetic movements where the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceeding their future integration [goid 1947] [evidence IEA]; The process whereby precursor cell type acquires the specialized features of a hemopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells [goid 2244] [evidence IEA]; The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response [goid 2286] [evidence IEA]; The process whereby a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage [goid 2573] [evidence IEA]; The addition of a sugar unit to a protein amino acid, e.g. the addition of glycan chains to proteins [goid 6486] [evidence IEA]; The proteolytic cleavage of transmembrane proteins and release of their ectodomain (extracellular domain) [goid 6509] [pmid 15274632] [evidence IDA]; A process which directly inhibits any of the steps required for cell death by apoptosis [goid 6916] [pmid 10805794] [evidence TAS]; The process by which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets [goid 7059] [pmid 10206644] [evidence TAS]; Any process that modulates the frequency, rate or extent of EGF receptor activity [goid 7176] [evidence IEA]; The series of successive proteolytic cleavage events that take place after a Notch receptor binds a ligand, and which lead to the release of the Notch Intracellular Domain (NICD), which is the active form of the receptor [goid 7220] [pmid 15274632] [evidence TAS]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task) [goid 7613] [evidence IEA]; The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant [goid 9790] [evidence IEA]; The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development [goid 9791] [evidence IEA]; The attachment of one cell to another cell via adhesion molecules [goid 16337] [pmid 11953314] [evidence IMP]; The posttranslational modification of a protein, particularly secretory proteins and proteins targeted for membranes or specific cellular locations [goid 16485] [pmid 15274632] [evidence IDA]; The process by which the neural tube is regionalized in the dorsoventral axis [goid 21904] [evidence IEA]; The process, occurring in the embryo, by which the anatomical structures of the limb are generated and organized. Morphogenesis pertains to the creation of form. A limb is an appendage of an animal used for locomotion or grasping [goid 30326] [evidence IEA]; The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) [goid 30900] [evidence IEA]; Self-propelled movement of a cell or organism from one location to another [goid 40011] [evidence IEA]; Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule [goid 42325] [pmid 9689133] [evidence IDA]; The growth phase of the hair cycle. Lasts, for example, about 3 to 6 years for human scalp hair [goid 42640] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of amyloid precursor protein (APP), the precursor of beta-amyloid, a glycoprotein associated with Alzheimer's disease [goid 42987] [pmid 15274632] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of cell death by apoptosis [goid 43065] [evidence IEA]; Any process that activates or increases the activity of an enzyme [goid 43085] [pmid 15274632] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of protein kinase activity [goid 45860] [evidence IEA]; A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers [goid 48167] [evidence IEA]; The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components [goid 48538] [evidence IEA]; The process by which the anatomical structures of brain are generated and organized. Morphogenesis pertains to the creation of form. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 48854] [evidence IEA]; The chemical reactions and pathways involving beta-amyloid, a glycoprotein associated with Alzheimer's disease, and its precursor, amyloid precursor protein (APP) [goid 50435] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of coagulation [goid 50820] [evidence IEA]; A series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell [goid 50852] [evidence IEA]; The regulation of the levels, transport, and metabolism of calcium ions within the smooth endoplasmic reticulum of a cell or between the smooth endoplasmic reticulum and its surroundings [goid 51563] [evidence IEA]" "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain [goid 4175] [pmid 8755489] [evidence IDA]; Interacting selectively with the beta subunit of the catenin complex [goid 8013] [pmid 11104755] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" PS1; AD3; FAD; S182 PS1; AD3; FAD; S182 Hydrolase -> Deaminase Nucleoside, nucleotide and nucleic acid metabolism -> Purine metabolism Homo sapiens RefSeq ILMN_8067 ILMN_8067 ADA NM_000022.2 NM_000022.2 100 47078294 NM_000022.2 ADA NP_000013.2 ILMN_1803686 7210192 S 1204 CAGGGCAGAACCTCTGAAGACGCCACTCCTCCAAGCCTTCACCCTGTGGA 20 - 42681855-42681888:42681889-42681902:42682354-42682355 20q13.12a "Homo sapiens adenosine deaminase (ADA), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 8452534] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 3182793] [evidence EXP]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [pmid 16670267] [evidence IDA]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [pmid 7759315] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [pmid 11999881] [evidence IDA]" "A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level [goid 1666] [pmid 16670267] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of adenosine, adenine riboside, a ribonucleoside found widely distributed in cells of every type as the free nucleoside and in combination in nucleic acids and various nucleoside coenzymes [goid 6154] [pmid 16670267] [evidence IDA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a glycosamine consisting of a purine base linked to a ribose sugar esterified with phosphate on its glycose moiety [goid 9168] [evidence IEA]; Any process which produces a purine nucleotide from derivatives of it, without de novo synthesis [goid 32261] [pmid 9361033] [evidence IMP]; Any process that modulates the frequency, rate, or extent of cell-cell adhesion mediated by integrin [goid 33632] [pmid 11772392] [evidence IDA]; The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific [goid 42110] [pmid 7594462] [evidence IDA]; The chemical reactions and pathways resulting in the formation of inosine, hypoxanthine riboside, a nucleoside found free but not in combination in nucleic acids except in the anticodons of some tRNAs [goid 46103] [pmid 8894685] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of the adenosine receptor signaling pathway. The adenosine receptor pathway is the series of molecular signals generated as a consequence of an adenosine receptor binding to one of its physiological ligands [goid 60169] [pmid 16670267] [evidence IDA]" "Catalysis of the reaction: adenosine + H2O = inosine + NH3 [goid 4000] [pmid 16670267] [evidence IDA]; Catalysis of the reaction: adenosine + H2O = inosine + NH3 [goid 4000] [pmid 3182793] [evidence IDA]; Catalysis of the reaction: adenosine + H2O = inosine + NH3 [goid 4000] [pmid 8452534] [evidence IDA]; Catalysis of the reaction: adenosine + H2O = inosine + NH3 [goid 4000] [pmid 9361033] [evidence IDA]; Catalysis of the reaction: adenosine + H2O = inosine + NH3 [goid 4000] [pmid 3182793] [evidence EXP]; Catalysis of the reaction: adenosine + H2O = inosine + NH3 [goid 4000] [pmid 11999881] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 14684150] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 7594462] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 7599635] [evidence IMP]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" Select calcium binding protein Signal transduction -> Intracellular signaling cascade -> Calcium mediated signaling Homo sapiens RefSeq ILMN_26456 ILMN_26456 SGCA NM_000023.1 NM_000023.1 6442 4506910 NM_000023.1 SGCA NP_000014.1 ILMN_1741007 2690088 S 1186 AGTGGTTCCAGGTCCAGCCCTGACTTCATCCTCCCTTCTCTGTCCACACC 17 + 45607808-45607809:45608072-45608119 17q21.33a "Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase [goid 16010] [pmid 7937874] [evidence TAS]; A protein complex formed of four sarcoglycans plus sarcospan; there are six known sarcoglycans: alpha-, beta-, gamma-, delta-, epsilon- and zeta-sarcoglycan; all are N-glycosylated single-pass transmembrane proteins. The sarcoglycan-sarcospan complex is a subcomplex of the dystrophin glycoprotein complex, and is fixed to the dystrophin axis by a lateral association with the dystroglycan complex [goid 16012] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The outer membrane of a muscle fiber, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers [goid 42383] [evidence IEA]; Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions [goid 45121] [evidence IEA]" "A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 8069911] [evidence TAS]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 7663524] [evidence TAS]" Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] DAG2; A2; LGMD2D; DMDA2; ADL; SCARMD1; 50-DAG; adhalin DAG2; A2; LGMD2D; DMDA2; ADL; SCARMD1; 50-DAG; adhalin Receptor -> G-protein coupled receptor Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Signal transduction -> Intracellular signaling cascade -> Calcium mediated signaling;Signal transduction -> Cell communication -> Ligand-mediated signaling;Intracellular protein traffic -> Endocytosis -> Receptor mediated endocytosis;Intracellular protein traffic -> Lysosome transport;Transport;Neuronal activities Homo sapiens RefSeq ILMN_2022 ILMN_2022 ADRB2 NM_000024.4 NM_000024.4 154 116686129 NM_000024.4 ADRB2 NP_000015.1 ILMN_1695590 7570326 S 1895 CAGCTGTGAACATGGACTCTTCCCCCACTCCTCTTATTTGCTCACACGGG 5 + 148188243-148188292 5q33.1b "Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 9507004] [evidence TAS]; A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [pmid 10734107] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9235896] [evidence IDA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9228019] [evidence TAS]; The region of the plasma membrane located at the apical end of the cell [goid 16324] [evidence IEA]; Any protein group composed of two or more subunits, which may or may not be identical, which undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 43235] [pmid 15123695] [evidence IDA]" "The initiation of the activity of the inactive enzyme MAP kinase by phosphorylation by a MAPKK [goid 187] [pmid 9924018] [evidence TAS]; The process that results in increased metabolic rate in tissues of an organism. It is triggered by the detection of dietary excess. This process is achieved via signalling in the sympathetic nervous system [goid 2024] [evidence IEA]; A process that results in an increase in the diameter of an artery during the norepinephrine-epinephrine response to blood pressure change [goid 2025] [evidence IEA]; Any process that modulates the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of, within or between cells [goid 2028] [evidence IEA]; The process that inhibits the signaling function of a G-protein coupled receptor by uncoupling the receptor from its downstream G proteins [goid 2032] [pmid 15123695] [evidence IDA]; The uptake of external materials by cells, utilizing receptors to ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles [goid 6898] [pmid 15123695] [evidence IDA]; Any process that initiates the activity of the inactive transmembrane receptor protein tyrosine kinase activity [goid 7171] [pmid 10734107] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 9924018] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by activation of adenylyl cyclase and a subsequent increase in the concentration of cyclic AMP [goid 7189] [evidence IEA]; Any process that initiates the activity of the inactive enzyme adenylate cyclase [goid 7190] [pmid 15123695] [evidence IDA]; A series of reactions, mediated by protein kinases, which occurs as a result of a single trigger reaction or compound [goid 7243] [pmid 10734107] [evidence TAS]; The directed movement of substances from endosomes to lysosomes [goid 8333] [pmid 9507004] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cold stimulus, a temperature stimulus below the optimal temperature for that organism [goid 9409] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of bone mineralization [goid 30501] [evidence IEA]; Any homeostatic process by which an organism produces heat, thereby raising its internal temperature [goid 31649] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of growth of an organism to reach its usual body size [goid 40015] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade [goid 43410] [pmid 15123695] [evidence IDA]; The process by which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products [goid 45453] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of smooth muscle contraction [goid 45986] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a brown adipocyte, an animal connective tissue cell involved in adaptive thermogenesis. Brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria [goid 50873] [evidence IEA]" "Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; [goid 4941] [pmid 15123695] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9560162] [evidence IPI]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 15123695] [evidence IDA]; Interacting selectively with norepinephrine, (3,4-dihydroxyphenyl-2-aminoethanol), a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine [goid 51380] [pmid 15123695] [evidence IDA]" B2AR; BETA2AR; BAR; ADRBR; ADRB2R B2AR; BETA2AR; BAR; ADRBR; ADRB2R Receptor -> G-protein coupled receptor Carbohydrate metabolism;Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Signal transduction -> Intracellular signaling cascade -> Calcium mediated signaling;Signal transduction -> Cell communication -> Ligand-mediated signaling;Immunity and defense -> Macrophage-mediated immunity;Immunity and defense -> Other immune and defense;Immunity and defense -> Granulocyte-mediated immunity;Neuronal activities -> Synaptic transmission -> Nerve-nerve synaptic transmission;Muscle contraction;Blood circulation and gas exchange -> Regulation of vasoconstriction, dilation;Other metabolism Homo sapiens RefSeq ILMN_1876 ILMN_166429 ADRB3 NM_000025.1 NM_000025.1 155 4557266 NM_000025.1 ADRB3 NP_000016.1 ILMN_1694007 1430722 S 2313 ATTGAGTAGCAAAGCCACGCTCCCCACAGGACTTGGACAGAGGGCCCACA 8 - 37939954-37940003 8p12a "Homo sapiens adrenergic, beta-3-, receptor (ADRB3), mRNA." "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 1718744] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 1718744] [evidence TAS]; Any protein group composed of two or more subunits, which may or may not be identical, which undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 43235] [pmid 15123695] [evidence IDA]" "The process that inhibits the signaling function of a G-protein coupled receptor by uncoupling the receptor from its downstream G proteins [goid 2032] [pmid 15123695] [evidence IDA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [pmid 2570461] [evidence TAS]; The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 2570461] [evidence TAS]; [goid 6112] [pmid 1718744] [evidence TAS]; The uptake of external materials by cells, utilizing receptors to ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles [goid 6898] [pmid 15123695] [evidence IDA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by modulation of adenylyl cyclase activity and a subsequent change in the concentration of cyclic AMP [goid 7188] [pmid 1718744] [evidence TAS]; Any process that initiates the activity of the inactive enzyme adenylate cyclase [goid 7190] [pmid 15123695] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade [goid 43410] [pmid 15123695] [evidence IDA]" "Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; [goid 15052] [pmid 9892244] [evidence IMP]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 15123695] [evidence IDA]; Interacting selectively with norepinephrine, (3,4-dihydroxyphenyl-2-aminoethanol), a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine [goid 51380] [pmid 15123695] [evidence IDA]" BETA3AR BETA3AR Lyase -> Other lyase Nucleoside, nucleotide and nucleic acid metabolism -> Purine metabolism Homo sapiens RefSeq ILMN_7521 ILMN_7521 ADSL NM_000026.1 NM_000026.1 158 4557268 NM_000026.1 ADSL NP_000017.1 ILMN_1790757 5870228 S 1348 TCACTGGTCGTGCCTCCCAGCAGGTGCAGAGATTCTTAGAAGAGGAGGTG 22 + 39090986-39091006:39092386-39092414 22q13.1e "Homo sapiens adenylosuccinate lyase (ADSL), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11256614] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8366112] [evidence EXP]" "The chemical reactions and pathways resulting in the formation of AMP, adenosine monophosphate [goid 6167] [pmid 11428554] [evidence IDA]; The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate moiety at either the 3' or 5'-hydroxyl group of its glycose moiety [goid 9152] [evidence IEA]; The formation of a protein tetramer, a macromolecular structure consisting of four noncovalently associated identical or nonidentical subunits [goid 51262] [pmid 16973378] [evidence IDA]" "Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]; Catalysis of the reaction: N6-(1,2-dicarboxyethyl)AMP = fumarate + AMP [goid 4018] [pmid 10888601] [evidence IDA]; Catalysis of the reaction: N6-(1,2-dicarboxyethyl)AMP = fumarate + AMP [goid 4018] [pmid 8366112] [evidence EXP]; Catalysis of the reaction: N6-(1,2-dicarboxyethyl)AMP = fumarate + AMP [goid 4018] [pmid 16973378] [evidence IDA]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]" Hydrolase Amino acid metabolism -> Amino acid catabolism;Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_12704 ILMN_165746 AGA NM_000027.2 NM_000027.2 175 32313568 NM_000027.2 AGA NP_000018.1 ILMN_1802631 130064 S 1922 CTCTCTGTATGACAACTCTACAGAAGTTGTGCGCGTGCTTTCTCAGCAGC 4 - 178588987-178589036 4q34.3a "Homo sapiens aspartylglucosaminidase (AGA), mRNA." "A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 2401370] [evidence NAS]" The removal of sugar residues from a glycosylated protein [goid 6517] [pmid 2775174] [evidence TAS] "Catalysis of the reaction: N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine + H2O = N-acetyl-beta-glucosaminylamine + L-aspartate [goid 3948] [pmid 1703489] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" AGU; ASRG; GA AGU; ASRG; GA Transferase -> Glycosyltransferase;Hydrolase -> Glycosidase Carbohydrate metabolism -> Glycogen metabolism Homo sapiens RefSeq ILMN_19279 ILMN_164290 AGL NM_000028.2 NM_000028.2 178 116734846 NM_000028.2 AGL NP_000019.2 ILMN_1717468 3190468 I 132 TAAGCAGAAGTGCCATTCGGAGTCTCCAGAGCCCTGTGGCTTGGGGCTGG 1 + 100088764-100088813 1p21.2a "Homo sapiens amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 4, mRNA." "That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9691087] [evidence EXP]; A protein complex whose composition varies amongst species; in rice it probably exists in a homo-tetramer to homo-hexamer form and in Gram-negative bacteria as a dimer. Functions in the hydrolysis of alpha-(1,6)-D-glucosidic branch linkages [goid 43033] [pmid 1374391] [evidence TAS]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues [goid 5978] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues [goid 5978] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues [goid 5978] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the transfer of a segment of a (1,4)-alpha-D-glucan to a new 4-position in an acceptor, which may be glucose or (1,4)-alpha-D-glucan [goid 4134] [evidence IEA]; Catalysis of the hydrolysis of (1,6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin. Limit dextrin is the highly branched core that remains after exhaustive treatment of glycogen with glycogen phosphorylase. It is formed because these enzymes cannot hydrolyze the 1,6 glycosidic linkages present [goid 4135] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with cations, charged atoms or groups of atoms with a net positive charge [goid 43169] [evidence IEA]; Catalysis of the transfer of a segment of a (1,4)-alpha-D-glucan to a new 4-position in an acceptor, which may be glucose or (1,4)-alpha-D-glucan [goid 4134] [evidence IEA]; Catalysis of the hydrolysis of (1,6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin. Limit dextrin is the highly branched core that remains after exhaustive treatment of glycogen with glycogen phosphorylase. It is formed because these enzymes cannot hydrolyze the 1,6 glycosidic linkages present [goid 4135] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with cations, charged atoms or groups of atoms with a net positive charge [goid 43169] [evidence IEA]; Catalysis of the transfer of a segment of a (1,4)-alpha-D-glucan to a new 4-position in an acceptor, which may be glucose or (1,4)-alpha-D-glucan [goid 4134] [evidence IEA]; Catalysis of the hydrolysis of (1,6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin. Limit dextrin is the highly branched core that remains after exhaustive treatment of glycogen with glycogen phosphorylase. It is formed because these enzymes cannot hydrolyze the 1,6 glycosidic linkages present [goid 4135] [evidence IEA]; Catalysis of the hydrolysis of (1,6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin. Limit dextrin is the highly branched core that remains after exhaustive treatment of glycogen with glycogen phosphorylase. It is formed because these enzymes cannot hydrolyze the 1,6 glycosidic linkages present [goid 4135] [pmid 9691087] [evidence EXP]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]; Catalysis of the hydrolysis of any glycosyl bond [goid 16798] [evidence IEA]; Interacting selectively with cations, charged atoms or groups of atoms with a net positive charge [goid 43169] [evidence IEA]" GDE GDE Select regulatory molecule -> Protease inhibitor -> Serine protease inhibitor Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_1261 ILMN_1261 AGT NM_000029.2 NM_000029.2 183 73622269 NM_000029.2 AGT NP_000020.1 ILMN_1813530 2850301 S 1661 TCAGCGATGTGTCACCCCCAGTCTCCCACCTTTTCTTCTAATGAGTCGAC 1 - 228905370-228905419 1q42.2a "Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [pmid 6089875] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]" "Disruption of theca cell layer releasing follicular fluid and/or the oocyte [goid 1543] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell growth [goid 1558] [pmid 17159080] [evidence NAS]; The process whose specific outcome is the progression of the blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood [goid 1568] [evidence IEA]; Branching of the ureteric bud [goid 1658] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of production of a cytokine [goid 1819] [pmid 17906677] [evidence TAS]; The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and excretes the end products of body metabolism in the form of urine [goid 1822] [evidence IEA]; The reorganization or renovation of existing blood vessels [goid 1974] [pmid 10406457] [evidence TAS]; The decrease in blood vessel diameter as a result of the release of angiotensin into the blood stream [goid 1998] [evidence IEA]; The physiological response of the kidneys to a decrease in blood flow [goid 1999] [evidence IEA]; The process by which an increase in active angiotensin stimulates the adrenal cortices to secrete aldosterone [goid 2018] [evidence IEA]; The process by which angiotensin directly modulates the rate of urine output by the kidney [goid 2019] [evidence IEA]; The process by which an angiotensin-mediated signaling system present in the brain regulates the force with which blood passes through the circulatory system [goid 2035] [evidence IEA]; Any process that modulates the frequency, rate, or extent of natriuresis, the process of renal sodium excretion [goid 3078] [pmid 17159080] [evidence NAS]; The chemical reactions and pathways involving dioxygen (O2), or any of the reactive oxygen species, e.g. superoxide anions (O2-), hydrogen peroxide (H2O2), and hydroxyl radicals (-OH) [goid 6800] [pmid 17906677] [evidence TAS]; The chemical reactions and pathways involving dioxygen (O2), or any of the reactive oxygen species, e.g. superoxide anions (O2-), hydrogen peroxide (H2O2), and hydroxyl radicals (-OH) [goid 6800] [pmid 17159080] [evidence TAS]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by activation of guanylyl cyclase and a subsequent increase in the concentration of cyclic GMP [goid 7199] [pmid 17159080] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by the activation of phospholipase C and the subsequent release of inositol trisphosphate [goid 7200] [pmid 17159080] [evidence NAS]; A series of molecular signals mediated by the detection of nitric oxide (NO) [goid 7263] [pmid 17159080] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 8513325] [evidence TAS]; The establishment of the barrier between the perineurium of peripheral nerves and the vascular endothelium of endoneurial capillaries. The perineurium acts as a diffusion barrier, but ion permeability at the blood-nerve barrier is still higher than at the blood-brain barrier [goid 8065] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cold stimulus, a temperature stimulus below the optimal temperature for that organism [goid 9409] [evidence IEA]; Any process that increases the rate, frequency, or extent of the orderly movement of endothelial cells into the extracellular matrix to form an endothelium [goid 10595] [pmid 15652490] [evidence IDA]; Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division [goid 10613] [evidence ISS]; Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphoinositide 3-kinase cascade [goid 14068] [pmid 15652490] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muscle activity stimulus. This process occurs as part of the regulation of muscle adaptation [goid 14873] [evidence ISS]; Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels [goid 19229] [pmid 17159080] [evidence NAS]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of an extracellular matrix [goid 30198] [evidence IEA]; A wavelike sequence of involuntary muscular contraction and relaxation that passes along a tubelike structure, such as the intestine, impelling the contents onwards [goid 30432] [evidence IEA]; Any process that activates or increases the activity of the enzyme NAD(P)H oxidase [goid 33864] [pmid 17159080] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of growth of an organism to reach its usual body size [goid 40018] [evidence IEA]; The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone [goid 42445] [evidence IEA]; The specific actions or reactions of an organism relating to the intake of liquids, especially water [goid 42756] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of cell death by apoptosis [goid 43065] [pmid 10406457] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade [goid 43410] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis in neurons [goid 43524] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids [goid 45723] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity [goid 45742] [pmid 15652490] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of growth of an organ of an organism [goid 46622] [evidence IEA]; A change in morphology and behavior of an astrocyte resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor [goid 48143] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells [goid 48146] [evidence ISS]; The multiplication or reproduction of smooth muscle cells, resulting in the expansion of a cell population [goid 48659] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of the inflammatory response [goid 50729] [pmid 17906677] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of the inflammatory response [goid 50729] [pmid 17159080] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine [goid 50731] [pmid 15652490] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB [goid 51092] [pmid 17906677] [evidence TAS]; The process whereby a relatively unspecialized cell acquires specialized features of a smooth muscle cell; smooth muscle lacks transverse striations in its constituent fibers and are almost always involuntary [goid 51145] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the activity of the nerve growth factor receptor signaling pathway [goid 51387] [pmid 10406457] [evidence IDA]" "Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [pmid 3397061] [evidence TAS]; The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [evidence ISS]; The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [pmid 1378723] [evidence IC ]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [pmid 10406457] [evidence TAS]; Interacting selectively with a type 1 angiotensin receptor [goid 31702] [evidence IEA]; Interacting selectively with a type 2 angiotensin receptor [goid 31703] [evidence IEA]" SERPINA8; ANHU SERPINA8; ANHU Transferase -> Transaminase Amino acid metabolism Homo sapiens RefSeq ILMN_21738 ILMN_21738 AGXT NM_000030.1 NM_000030.1 189 4557288 NM_000030.1 AGXT NP_000021.1 ILMN_1709796 270709 S 1469 TTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCC 2 + 241467080-241467129 2q37.3f "Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 3709805] [evidence IDA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 1703535] [evidence IDA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 7813517] [evidence IDA]" "The process of directing proteins towards the peroxisome using signals contained within the protein [goid 6625] [pmid 1703535] [evidence IMP]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving glyoxylate, the anion of glyoxylic acid, HOC-COOH [goid 46487] [pmid 3709805] [evidence IMP]; The regulated release of oxalic acid, ethanedioic acid, by a cell or group of cells [goid 46724] [evidence IEA]" "Catalysis of the reaction: L-serine + pyruvate = 3-hydroxypyruvate + L-alanine [goid 4760] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15911627] [evidence IPI]; Catalysis of the reaction: L-alanine + glyoxylate = pyruvate + glycine [goid 8453] [pmid 2363689] [evidence TAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [pmid 15802217] [evidence IMP]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 12899834] [evidence IDA]" PH1; AGT; SPAT; SPT; AGT1; TLH6; AGXT1 PH1; SPT; AGT; SPAT; AGT1; TLH6; AGXT1 Lyase -> Dehydratase Coenzyme and prosthetic group metabolism -> Porphyrin metabolism Homo sapiens RefSeq ILMN_23545 ILMN_23545 ALAD NM_000031.4 NM_000031.4 210 51558761 NM_000031.4 ALAD NP_000022.2 ILMN_2404657 2070397 A 2464 GGAGCGGGGACAGTGGGGATGGAGAAAGGGGAATGGATTGTGGATGTGTT 9 - 115189034-115189083 9q32c "Homo sapiens aminolevulinate, delta-, dehydratase (ALAD), transcript variant 2, mRNA." That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11032836] [evidence EXP] "The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors [goid 6783] [pmid 3758678] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the reaction: 2 5-aminolevulinate = porphobilinogen + 2 H2O [goid 4655] [pmid 3463993] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" PBGS; MGC5057; ALADH ALADH; PBGS; MGC5057 Transporter Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport Homo sapiens RefSeq ILMN_8117 ILMN_8117 ABCD1 NM_000033.2 NM_000033.2 215 7262392 NM_000033.2 ABCD1 NP_000024.2 ILMN_1772189 4890609 S 3272 TCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGC X + 152663031-152663080 Xq28f "Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [evidence IEA]; The lipid bilayer surrounding a peroxisome [goid 5778] [evidence IEA]; Penetrating at least one phospholipid bilayer of a peroxisomal membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5779] [pmid 8441467] [evidence NAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules [goid 7031] [pmid 8441467] [evidence NAS]; The directed movement of substances to, from or across the peroxisomal membrane [goid 15919] [pmid 8441467] [evidence NAS]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [pmid 8441467] [evidence NAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to directly drive the active transport of a substance across a membrane [goid 42626] [pmid 8441467] [evidence NAS]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 10551832] [evidence IPI]" ALD; AMN; ALDP; ABC42 ALD; AMN; ALDP; ABC42 Lyase -> Aldolase Carbohydrate metabolism -> Glycolysis Homo sapiens RefSeq ILMN_20463 ILMN_20463 ALDOA NM_000034.2 NM_000034.2 226 34577108 NM_000034.2 ALDOA NP_000025.1 ILMN_1681374 2470341 I 755 CACACGTCAACGATTCTATTTGAAGTTGGGCAGGGGGGTGGCGCTGCTCA 16 + 29982921-29982970 16p11.2d "Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]" "The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey [goid 6000] [pmid 2825199] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [pmid 2825199] [evidence TAS]; A process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope [goid 6941] [pmid 8598869] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate [goid 4332] [pmid 2825199] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15231747] [evidence IPI]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]" MGC17716; ALDA; MGC10942; MGC17767 MGC17716; ALDA; MGC10942; MGC17767 Lyase -> Aldolase Carbohydrate metabolism -> Glycolysis Homo sapiens RefSeq ILMN_8970 ILMN_8970 ALDOB NM_000035.2 NM_000035.2 229 40354204 NM_000035.2 ALDOB NP_000026.2 ILMN_1747716 650427 S 1171 CTGGGGCTGCTTCCACCCAGTCGCTCTTCACAGCCTGCTATACCTACTAG 9 - 103223911-103223911:103223912-103223960 9q31.1b "Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 3383242] [evidence TAS]; A region in a eukaryotic cell, such as a centrosome or basal body, from which microtubules grow [goid 5815] [pmid 18000879] [evidence IDA]; A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; cetriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome [goid 34451] [pmid 18000879] [evidence IDA]" "The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey [goid 6000] [pmid 3383242] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [pmid 3383242] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate [goid 4332] [evidence IEA]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]; Catalysis of the reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate [goid 4332] [pmid 3383242] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 18000879] [evidence IPI]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]" Hydrolase -> Deaminase Nucleoside, nucleotide and nucleic acid metabolism -> Purine metabolism Homo sapiens RefSeq ILMN_2146 ILMN_2146 AMPD1 NM_000036.1 NM_000036.1 270 4557310 NM_000036.1 AMPD1 NP_000027.1 ILMN_1759312 6660114 S 2229 CCGGAGGACAAATGTAGCCCAAATCCGCATGGCCTATCGCTATGAAACCT 1 - 115017307-115017356 1p13.2a "Homo sapiens adenosine monophosphate deaminase 1 (isoform M) (AMPD1), mRNA." "The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a glycosamine consisting of a purine base linked to a ribose sugar esterified with phosphate on its glycose moiety [goid 9168] [evidence IEA]; The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates) [goid 9117] [evidence IEA]; The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a glycosamine consisting of a purine base linked to a ribose sugar esterified with phosphate on its glycose moiety [goid 9168] [evidence IEA]" "Catalysis of the reaction: AMP + H2O = IMP + NH3 [goid 3876] [evidence IEA]; Catalysis of the reaction: AMP + H2O = IMP + NH3 [goid 3876] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: AMP + H2O = IMP + NH3 [goid 3876] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: AMP + H2O = IMP + NH3 [goid 3876] [pmid 644316] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" MADA; MAD MADA; MAD Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Non-motor microtubule binding protein Signal transduction -> Cell surface receptor mediated signal transduction -> Other receptor mediated signaling pathway;Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade;Cell adhesion;Apoptosis;Cell cycle -> Cell cycle control;Oncogenesis -> Tumor suppressor Homo sapiens RefSeq ILMN_18629 ILMN_18629 APC NM_000038.3 NM_000038.3 324 53759121 NM_000038.3 APC NP_000029.2 ILMN_1662668 5720722 S 10349 CTTTTTAAGCATGGTGGGGCACTCAGATAGGAGTGAATACACCTACCTGG 5 + 112209482-112209531 5q22.2a "Homo sapiens adenomatous polyposis coli (APC), mRNA." "A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules [goid 776] [pmid 11283619] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 12955080] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 11035805] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11035805] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 12955080] [evidence IDA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 11283619] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 16753179] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 12820959] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 15327769] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 12000790] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11955436] [evidence EXP]; The membranes on the sides of epithelial cells which lie at the interface of adjacent cells [goid 16328] [pmid 12072559] [evidence IDA]; A cytoplasmic protein complex containing glycogen synthase kinase-3-beta (GSK-3-beta), the adenomatous polyposis coli protein (APC), and the scaffolding protein axin, among others; phosphorylates beta-catenin, targets it for degradation by the proteasome [goid 30877] [pmid 16188939] [evidence IDA]; A cytoplasmic protein complex containing glycogen synthase kinase-3-beta (GSK-3-beta), the adenomatous polyposis coli protein (APC), and the scaffolding protein axin, among others; phosphorylates beta-catenin, targets it for degradation by the proteasome [goid 30877] [pmid 9601641] [evidence IDA]" "The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 16188939] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism [goid 6974] [pmid 14728717] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol [goid 7026] [pmid 11166179] [evidence IDA]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [pmid 8521819] [evidence IDA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 8259518] [evidence NAS]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 8521819] [evidence IDA]; The establishment, maintenance and elaboration of a pattern along a line or a point [goid 9798] [evidence IEA]; The regionalization process by which specific areas of cell differentiation are determined along the anterior-posterior axis [goid 9952] [evidence IEA]; The regionalization process by which the areas along the dorsal/ventral axis are established that will lead to differences in cell differentiation [goid 9953] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of CDK activity [goid 45736] [pmid 8521819] [evidence IDA]; Any process that modulates the frequency, rate or extent of the attachment of spindle microtubules to the kinetochore [goid 51988] [pmid 11283619] [evidence NAS]; The series of molecular signals initiated by binding of Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in transcription of target genes [goid 60070] [pmid 9601641] [evidence IC ]; The series of molecular signals initiated by binding of Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in transcription of target genes [goid 60070] [pmid 11035805] [evidence NAS]" "Interacting selectively with the beta subunit of the catenin complex [goid 8013] [pmid 11533658] [evidence IPI]; Interacting selectively with the beta subunit of the catenin complex [goid 8013] [pmid 8259518] [evidence NAS]; Interacting selectively with microtubules, filaments composed of tubulin monomers [goid 8017] [pmid 16188939] [evidence IDA]; Interacting selectively with microtubules, filaments composed of tubulin monomers [goid 8017] [pmid 11166179] [evidence IDA]; Modulation of the activity of the enzyme protein kinase CK2 [goid 8605] [pmid 11972058] [evidence IDA]; Interacting selectively with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate [goid 19901] [pmid 11283619] [evidence IDA]" DP2.5; FAP; GS; DP3; DP2; FPC DP2.5; FAP; GS; DP3; DP2; FPC Transporter;Transfer/carrier protein -> Apolipoprotein Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport Homo sapiens RefSeq ILMN_23504 ILMN_23504 APOA1 NM_000039.1 NM_000039.1 335 4557320 NM_000039.1 APOA1 NP_000030.1 ILMN_1690884 4570364 S 801 AGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCG 11 - 116211725-116211733:116211734-116211774 11q23.3b "Homo sapiens apolipoprotein A-I (APOA1), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 12692552] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 4345202] [evidence EXP]; The volume enclosed by the membranes of the endoplasmic reticulum [goid 5788] [pmid 12692552] [evidence EXP]; A membrane-bounded intracellular vesicle formed by invagination of the plasma membrane around an extracellular substance [goid 30139] [pmid 14747463] [evidence IDA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [pmid 14703508] [evidence IDA]; A lipoprotein particle with a high density (typically 1.063-1.21 g/ml) and a diameter of 5-10 nm that contains APOAs and may contain APOCs and APOE; found in blood and carries lipids from body tissues to the liver as part of the reverse cholesterol transport process [goid 34364] [pmid 210174] [evidence IDA]; A lipoprotein particle with a high density (typically 1.063-1.21 g/ml) and a diameter of 5-10 nm that contains APOAs and may contain APOCs and APOE; found in blood and carries lipids from body tissues to the liver as part of the reverse cholesterol transport process [goid 34364] [pmid 3104518] [evidence IDA]; A lipoprotein particle with a high density (typically 1.063-1.21 g/ml) and a diameter of 5-10 nm that contains APOAs and may contain APOCs and APOE; found in blood and carries lipids from body tissues to the liver as part of the reverse cholesterol transport process [goid 34364] [pmid 15464323] [evidence IDA]" "Any process that stops, prevents, or reduces the frequency, rate, or extent of cytokine secretion during immune response [goid 2740] [pmid 12458630] [evidence IDA]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways resulting in the formation of phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline [goid 6656] [pmid 4335615] [evidence IDA]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 16443932] [evidence IDA]; The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus [goid 8202] [evidence IEA]; The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues [goid 8203] [evidence IEA]; A series of molecular signals within the cell that are mediated by the Cdc42 protein switching to a GTP-bound active state [goid 32488] [pmid 16443932] [evidence IDA]; The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle [goid 33344] [pmid 14703508] [evidence IDA]; The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle [goid 33344] [pmid 16443932] [evidence IDA]; The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle [goid 33344] [pmid 11162594] [evidence IDA]; The directed movement of a phospholipid out of a cell or organelle [goid 33700] [pmid 14703508] [evidence IDA]; The directed movement of a phospholipid out of a cell or organelle [goid 33700] [pmid 11162594] [evidence IDA]; A lipid modification process in which a sterol ester is formed by the combination of a carboxylic acid (often a fatty acid) and cholesterol. In the blood this process is associated with the conversion of free cholesterol into cholesteryl ester, which is then sequestered into the core of a lipoprotein particle [goid 34435] [pmid 4335615] [evidence IDA]; The chemical reactions and pathways involving any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 42157] [evidence IEA]; Any process involved in the maintenance of an internal equilibrium of cholesterol within an organism or cell [goid 42632] [pmid 15464323] [evidence IMP]; The directed movement of periperal cell cholesterol, cholest-5-en-3-beta-ol, towards the liver for catabolism [goid 43691] [pmid 15464323] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of the regulated release of interleukin-1 beta from a cell or group of cells [goid 50713] [pmid 12458630] [evidence IDA]; Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation [goid 50821] [pmid 17655203] [evidence IDA]" "Interacting selectively with beta-amyloid peptide/protein and/or its precursor [goid 1540] [pmid 11297421] [evidence IDA]; Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]; Interacting selectively with phospholipids, a class of lipids containing phosphoric acid as a mono- or diester [goid 5543] [pmid 12810715] [evidence IDA]; Interacting selectively with cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 15485] [pmid 15464323] [evidence IDA]; Enables the directed movement of cholesterol into, out of, within or between cells. Cholesterol is the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 17127] [pmid 9651324] [evidence IDA]; Enables the directed movement of cholesterol into, out of, within or between cells. Cholesterol is the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 17127] [pmid 15464323] [evidence IMP]; Interacting selectively with any enzyme [goid 19899] [pmid 1587806] [evidence IPI]; Interacting selectively with an apolipoprotein A-I receptor [goid 34191] [pmid 16443932] [evidence IPI]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 8049247] [evidence IPI]; Increases the activity of phosphatidylcholine-sterol O-acyltransferase, an enzyme that converts cholesterol and phosphatidylcholine (lecithins) to cholesteryl esters and lyso-phosphatidylcholines [goid 60228] [pmid 4335615] [evidence IDA]" MGC117399 MGC117399 Signaling molecule -> Other signaling molecule;Transporter;Transfer/carrier protein -> Apolipoprotein Lipid, fatty acid and steroid metabolism -> Regulation of lipid, fatty acid and steroid metabolism;Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport Homo sapiens RefSeq ILMN_4236 ILMN_4236 APOC3 NM_000040.1 NM_000040.1 345 4557322 NM_000040.1 APOC3 NP_000031.1 ILMN_1722070 2630010 S 435 AAAGGGACAGTATTCTCAGTGCTCTCCTACCCCACCTCATGCCTGGCCCC 11 + 116208899-116208948 11q23.3b "Homo sapiens apolipoprotein C-III (APOC3), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 4345202] [evidence EXP]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 11060345] [evidence IDA]; A triglyceride-rich lipoprotein particle that is typically composed of APOB100, APOE and APOCs and has a density of about 1.006 g/ml and a diameter of between 20-80 nm. It is found in blood and transports endogenous products (newly synthesized cholesterol and triglycerides) from the liver [goid 34361] [pmid 16935699] [evidence IDA]; A triglyceride-rich lipoprotein particle that typically contains APOB100, APOE and APOCs and has a density of 1.006-1.019 g/ml and a diameter of between 25-30 nm. IDL particles are found in blood and are formed by the delipidation of very-low-density lipoprotein particles (VLDL). IDL particles are removed from blood by the liver, following binding to the APOE receptor, or are converted to low-density lipoprotein (LDL) [goid 34363] [pmid 17336988] [evidence IDA]; A mature high-density lipoprotein (HDL) particle, converted from discoidal HDL particles following the esterification of cholesterol in the particle by phosphatidylcholine-sterol O-acyltransferase (lecithin cholesterol acyltransferase; LCAT) [goid 34366] [pmid 17438339] [evidence IDA]; A large lipoprotein particle (diameter 75-1200 nm) composed of a central core of triglycerides and cholesterol surrounded by a protein-phospholipid coating. The proteins include one molecule of apolipoprotein B-48 and may include a variety of apolipoproteins, including APOAs, APOCs and APOE. Chylomicrons are found in blood or lymph and carry lipids from the intestines into other body tissues [goid 42627] [evidence IEA]" "The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The chemical reactions and pathways involving any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 42157] [evidence IEA]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 16443932] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of triacylglycerol, any triester of glycerol [goid 19433] [pmid 11060345] [evidence IDA]; A series of molecular signals within the cell that are mediated by the Cdc42 protein switching to a GTP-bound active state [goid 32488] [pmid 16443932] [evidence IDA]; The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle [goid 33344] [pmid 16443932] [evidence IDA]; The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle [goid 33344] [pmid 11162594] [evidence IDA]; The directed movement of a phospholipid out of a cell or organelle [goid 33700] [pmid 11162594] [evidence IDA]; The acquisition, loss or modification of a protein or lipid within a high-density lipoprotein particle, including the hydrolysis of triglyceride by hepatic lipase, with the subsequent loss of free fatty acid, and the transfer of cholesterol esters from LDL to a triglyceride-rich lipoprotein particle by cholesteryl ester transfer protein (CETP), with the simultaneous transfer of triglyceride to LDL [goid 34375] [pmid 17438339] [evidence IMP]; The chemical reactions and pathways involving any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 42157] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids [goid 45717] [pmid 11060345] [evidence IDA]; Any process that stops or reduces the activity of the enzyme lipoprotein lipase [goid 51005] [pmid 11060345] [evidence IDA]" "Interacting selectively with a lipid [goid 8289] [evidence IEA]; Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]; Interacting selectively with phospholipids, a class of lipids containing phosphoric acid as a mono- or diester [goid 5543] [pmid 11060345] [evidence IDA]; Interacting selectively with phospholipids, a class of lipids containing phosphoric acid as a mono- or diester [goid 5543] [pmid 4066713] [evidence IDA]; Interacting selectively with cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 15485] [pmid 11162594] [evidence IC ]; Modulates the activity of an enzyme [goid 30234] [pmid 11060345] [evidence IDA]" APOCIII; MGC150353 APOCIII; MGC150353 Transporter;Transfer/carrier protein -> Apolipoprotein Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport Homo sapiens RefSeq ILMN_11525 ILMN_11525 APOE NM_000041.2 NM_000041.2 348 48762938 NM_000041.2 APOE NP_000032.1 ILMN_1740938 730414 S 906 TTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCA 19 + 50104216-50104265 19q13.32a "Homo sapiens apolipoprotein E (APOE), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 4345202] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8300609] [evidence EXP]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9622609] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8300609] [evidence EXP]; A branching protoplasmic process of a neuron that receive and integrate signals coming from axons of other neurons, and convey the resulting signal to the body of the cell [goid 30425] [pmid 8083695] [evidence NAS]; A triglyceride-rich lipoprotein particle that is typically composed of APOB100, APOE and APOCs and has a density of about 1.006 g/ml and a diameter of between 20-80 nm. It is found in blood and transports endogenous products (newly synthesized cholesterol and triglycerides) from the liver [goid 34361] [pmid 8245722] [evidence IDA]; A lipoprotein particle, rich in cholesterol esters and low in triglycerides that is typically composed of APOB100 and APOE and has a density of 1.02-1.06 g/ml and a diameter of between 20-25 nm. LDL particles are formed from VLDL particles (via IDL) by the loss of triacylglycerol and gain of cholesterol ester. They transport endogenous cholesterol (and to some extent triglycerides) from peripheral tissues back to the liver [goid 34362] [pmid 8245722] [evidence IDA]; A triglyceride-rich lipoprotein particle that typically contains APOB100, APOE and APOCs and has a density of 1.006-1.019 g/ml and a diameter of between 25-30 nm. IDL particles are found in blood and are formed by the delipidation of very-low-density lipoprotein particles (VLDL). IDL particles are removed from blood by the liver, following binding to the APOE receptor, or are converted to low-density lipoprotein (LDL) [goid 34363] [pmid 17336988] [evidence IDA]; A lipoprotein particle with a high density (typically 1.063-1.21 g/ml) and a diameter of 5-10 nm that contains APOAs and may contain APOCs and APOE; found in blood and carries lipids from body tissues to the liver as part of the reverse cholesterol transport process [goid 34364] [pmid 210174] [evidence IDA]; A large lipoprotein particle (diameter 75-1200 nm) composed of a central core of triglycerides and cholesterol surrounded by a protein-phospholipid coating. The proteins include one molecule of apolipoprotein B-48 and may include a variety of apolipoproteins, including APOAs, APOCs and APOE. Chylomicrons are found in blood or lymph and carry lipids from the intestines into other body tissues [goid 42627] [evidence IEA]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [pmid 8083695] [evidence NAS]" "A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reactive oxygen species stimulus. Reactive oxygen species include singlet oxygen, superoxide, and oxygen free radicals [goid 302] [pmid 11743999] [evidence NAS]; Any process that stops, prevents, or reduces the rate or extent of endothelial cell proliferation [goid 1937] [pmid 9685360] [evidence IDA]; The chemical reactions and pathways involving triacylglycerol, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triacylglycerols are important components of plant oils, animal fats and animal plasma lipoproteins [goid 6641] [pmid 9649566] [evidence IDA]; The chemical reactions and pathways involving triacylglycerol, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triacylglycerols are important components of plant oils, animal fats and animal plasma lipoproteins [goid 6641] [pmid 3771793] [evidence IMP]; The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 6707] [evidence IEA]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The regulation of the levels, transport, and metabolism of calcium ions within a cell or between a cell and its external environment [goid 6874] [evidence IEA]; A process which directly inhibits any of the steps required for cell death by apoptosis [goid 6916] [pmid 9685360] [evidence IDA]; A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [pmid 12753088] [evidence IDA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [pmid 9622609] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 16443932] [evidence IDA]; A series of molecular signals mediated by the detection of nitric oxide (NO) [goid 7263] [pmid 8995232] [evidence IDA]; The process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine [goid 7271] [pmid 9622609] [evidence TAS]; Any process that decreases the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue [goid 10544] [pmid 8995232] [evidence IDA]; A series of molecular signals in which a cell uses cyclic GMP to convert an extracellular signal into a response [goid 19934] [pmid 8995232] [evidence IDA]; Any process that modulates the rate, direction or extent of axon extension [goid 30516] [pmid 9622609] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cGMP [goid 30828] [pmid 8995232] [evidence IDA]; A series of molecular signals within the cell that are mediated by the Cdc42 protein switching to a GTP-bound active state [goid 32488] [pmid 16443932] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of low-density lipoprotein receptors [goid 32805] [pmid 15950758] [evidence IDA]; The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle [goid 33344] [evidence IEA]; The directed movement of a phospholipid out of a cell or organelle [goid 33700] [pmid 11162594] [evidence IDA]; The process by which a chylomicron remnant is removed from the blood via receptor-mediated endocytosis into liver cells and its constituent parts degraded [goid 34382] [pmid 7175379] [evidence IMP]; The process by which a very-low-density lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded [goid 34447] [pmid 9649566] [evidence IMP]; The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 42158] [evidence IEA]; An increase in the internal diameter of blood vessels, especially arterioles or capillaries, usually resulting in a decrease in blood pressure [goid 42311] [evidence IEA]; Any process involved in the maintenance of an internal equilibrium of cholesterol within an organism or cell [goid 42632] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of MAP kinase activity [goid 43407] [pmid 9685360] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of the migration of the endothelial cells of blood vessels [goid 43537] [pmid 9685360] [evidence IDA]; The directed movement of periperal cell cholesterol, cholest-5-en-3-beta-ol, towards the liver for catabolism [goid 43691] [pmid 8127890] [evidence IDA]; The directed movement of substances within a cell [goid 46907] [pmid 9622609] [evidence TAS]; A process that modulates neuronal synaptic plasticity, the ability of neuronal synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers [goid 48168] [pmid 9622609] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of the inflammatory response [goid 50728] [pmid 8995232] [evidence IC ]; Any process that activates or increases the activity of the enzyme nitric-oxide synthase [goid 51000] [pmid 8995232] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of membrane protein ectodomain peptidolysis [goid 51044] [pmid 15950758] [evidence IDA]" "Interacting selectively with beta-amyloid peptide/protein and/or its precursor [goid 1540] [pmid 11305869] [evidence IDA]; Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]; Interacting selectively with phospholipids, a class of lipids containing phosphoric acid as a mono- or diester [goid 5543] [pmid 4066713] [evidence IDA]; Interacting selectively with any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 8034] [evidence IEA]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [evidence IEA]; Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage [goid 16209] [pmid 9685360] [evidence IDA]; Enables the directed movement of cholesterol into, out of, within or between cells. Cholesterol is the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 17127] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 8245722] [evidence IDA]; The formation of bonds from two or more atoms within the same ligand to a metal atom in complexes in which the metal is part of a ring [goid 46911] [pmid 9685360] [evidence IDA]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 8245722] [evidence IPI]; Interacting selectively with tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS [goid 48156] [pmid 7566652] [evidence IPI]; Interacting selectively with an apolipoprotein E receptor [goid 50749] [pmid 12950167] [evidence IPI]; Interacting selectively with an apolipoprotein E receptor [goid 50749] [pmid 1384047] [evidence IDA]" MGC1571; apoprotein; AD2; LPG MGC1571; apoprotein; LPG; AD2 Transfer/carrier protein -> Apolipoprotein Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_10010 ILMN_10010 APOH NM_000042.2 NM_000042.2 350 153266840 NM_000042.2 APOH NP_000033.2 ILMN_1761511 1740669 S 777 CTGGATGGCCCGGAAGAAATAGAATGTACCAAACTGGGAAACTGGTCTGC 17 - 61643384-61643433 17q24.2a "Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The external part of the cell wall and/or plasma membrane [goid 9986] [pmid 16480936] [evidence IDA]; A triglyceride-rich lipoprotein particle that is typically composed of APOB100, APOE and APOCs and has a density of about 1.006 g/ml and a diameter of between 20-80 nm. It is found in blood and transports endogenous products (newly synthesized cholesterol and triglycerides) from the liver [goid 34361] [pmid 222615] [evidence IDA]; A lipoprotein particle with a high density (typically 1.063-1.21 g/ml) and a diameter of 5-10 nm that contains APOAs and may contain APOCs and APOE; found in blood and carries lipids from body tissues to the liver as part of the reverse cholesterol transport process [goid 34364] [pmid 222615] [evidence IDA]; A large lipoprotein particle (diameter 75-1200 nm) composed of a central core of triglycerides and cholesterol surrounded by a protein-phospholipid coating. The proteins include one molecule of apolipoprotein B-48 and may include a variety of apolipoproteins, including APOAs, APOCs and APOE. Chylomicrons are found in blood or lymph and carry lipids from the intestines into other body tissues [goid 42627] [pmid 222615] [evidence IDA]" "Any process that stops, prevents, or reduces the rate or extent of endothelial cell proliferation [goid 1937] [pmid 17872974] [evidence IDA]; The chemical reactions and pathways involving triacylglycerol, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triacylglycerols are important components of plant oils, animal fats and animal plasma lipoproteins [goid 6641] [pmid 7417307] [evidence IDA]; A pathway of blood coagulation that occurs during the clotting of platelet-poor plasma, in which activation of factor X to factor Xa is effected by the combination of factor IXa + factor VIIIa + calcium ion + phospholipid [goid 7597] [pmid 4052628] [evidence IDA]; Any process that decreases the rate, frequency, or extent of the orderly movement of endothelial cells into the extracellular matrix to form an endothelium [goid 10596] [pmid 17872974] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of angiogenesis [goid 16525] [pmid 17872974] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of blood coagulation [goid 30194] [pmid 16480936] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of blood coagulation [goid 30195] [pmid 4052628] [evidence IDA]; The process whereby plasminogen is processed to plasmin. This process includes both the cleavage of plasminogen between Arg560-Val561 to form plasmin and cleavage at Arg310 by plasmin or trypsin to result in the final two-chain form of plasmin held together by disulfide bonds [goid 31639] [pmid 16480936] [evidence IDA]; Any process that stops, prevents, or reduces the frequency, rate, or extent of a myeloid cell apoptosis [goid 33033] [pmid 15534879] [evidence IDA]; The directed movement of triacylglycerol into, out of, within or between cells. Triacylglycerols are important components of plant oils, animal fats and animal plasma lipoproteins [goid 34197] [pmid 7078428] [evidence ISS]; Any process that stops, prevents, or reduces the frequency, rate, or extent of smooth muscle cell apoptosis [goid 34392] [pmid 15534879] [evidence IDA]; Any process that activates or increases the activity of the enzyme lipoprotein lipase [goid 51006] [pmid 7417307] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of fibrinolysis, an ongoing process that solubilizes fibrin, resulting in the removal of small blood clots [goid 51918] [pmid 14726399] [evidence IDA]" "Interacting selectively with a glycoprotein, a protein that contains covalently bound glycose (monosaccharide) residues. These also include proteoglycans [goid 1948] [pmid 9269765] [evidence IPI]; Interacting selectively with phospholipids, a class of lipids containing phosphoric acid as a mono- or diester [goid 5543] [pmid 15486070] [evidence IDA]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [evidence IEA]; Interacting selectively with any component on the surface of a eukaryotic cell [goid 43499] [pmid 16480936] [evidence IDA]; Increases the activity of a lipoprotein lipase, an enzyme that catalyzes of the hydrolysis of a lipid within a lipoprotein [goid 60230] [pmid 7417307] [evidence IDA]" BG; B2G1 BG; B2G1 Receptor -> Nuclear hormone receptor;Transcription factor -> Nuclear hormone receptor;Nucleic acid binding Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Signal transduction -> Cell communication -> Steroid hormone-mediated signaling;Neuronal activities -> Other neuronal activity;Oncogenesis -> Other oncogenesis Homo sapiens RefSeq ILMN_13052 ILMN_13052 AR NM_000044.2 NM_000044.2 367 21322251 NM_000044.2 AR NP_000035.2 ILMN_1659572 3710017 I 2629 CTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAA X + 66683227-66683276 Xq12c "Homo sapiens androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease) (AR), transcript variant 1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 15572661] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 15572661] [evidence IDA]" "The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth [goid 1701] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [pmid 10835690] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10835690] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 10835690] [evidence TAS]; The establishment of the sex of an organism by physical differentiation [goid 7548] [pmid 10075738] [evidence NAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 10075738] [evidence NAS]; The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure [goid 8584] [evidence IEA]; The process by which a cell irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present [goid 16049] [pmid 15572661] [evidence NAS]; The determination of sex and sexual phenotypes in a male organism's soma [goid 19102] [evidence IEA]; Any series of molecular signals generated as a consequence of an androgen binding to its receptor [goid 30521] [evidence IEA]; The process whose specific outcome is the progression of the prostate gland over time, from its formation to the mature structure. The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid [goid 30850] [pmid 10075738] [evidence NAS]" "The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 15572661] [evidence IDA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with an androgen to initiate a change in cell activity [goid 4882] [pmid 15572661] [evidence TAS]; Combining with an androgen to initiate a change in cell activity [goid 4882] [pmid 10075738] [evidence NAS]; Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [pmid 11875111] [evidence IPI]; Interacting selectively with any androgen, male sex hormones [goid 5497] [pmid 10075738] [evidence NAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits [goid 46983] [pmid 10075738] [evidence NAS]" DHTR; SMAX1; TFM; HUMARA; AIS; NR3C4; KD; SBMA AIS; DHTR; SMAX1; NR3C4; TFM; KD; HUMARA; SBMA Hydrolase -> Other hydrolase Amino acid metabolism -> Amino acid catabolism Homo sapiens RefSeq ILMN_19494 ILMN_19494 ARG1 NM_000045.2 NM_000045.2 383 10947138 NM_000045.2 ARG1 NP_000036.2 ILMN_1812281 5270753 S 1327 GCCCCCATACATAGAGTGGGACTCTTGGAATCAGGAGACAAAGCTACCAC 6 + 131947041-131947090 6q23.2a "Homo sapiens arginase, liver (ARG1), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 3540966] [evidence TAS]" "A cyclic metabolic pathway that converts waste nitrogen in the form of ammonium to urea [goid 50] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of arginine, 2-amino-5-(carbamimidamido)pentanoic acid [goid 6527] [pmid 3540966] [evidence TAS]" "Catalysis of the reaction: L-arginine + H2O = L-ornithine + urea [goid 4053] [evidence IEA]; Catalysis of the reaction: L-arginine + H2O = L-ornithine + urea [goid 4053] [pmid 3540966] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with manganese (Mn) ions [goid 30145] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" Hydrolase -> Other hydrolase Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism;Sulfur metabolism Homo sapiens RefSeq ILMN_180341 ILMN_180341 ARSB NM_000046.2 NM_000046.2 411 38569404 NM_000046.2 ARSB NP_000037.2 ILMN_2242937 270215 I 5826 GTGTCAGCCATATGTATGGGGCTTCCATTTGGGGTGATGAGAAAGTTCTG 5 - 78108988-78109037 5q14.1c "Homo sapiens arylsulfatase B (ARSB), transcript variant 1, mRNA." "A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 2303452] [evidence TAS]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases [goid 7040] [pmid 1718978] [evidence TAS]; The directed movement of substances into, out of or within a lysosome [goid 7041] [pmid 2303452] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties [goid 30203] [evidence IEA]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of any sulfuric ester bond, any ester formed from sulfuric acid, O=SO(OH)2 [goid 8484] [evidence IEA]; Catalysis of the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate [goid 3943] [evidence IEA]; Catalysis of the reaction: a phenol sulfate + H2O = a phenol + SO4(2-) (sulfate) [goid 4065] [pmid 2303452] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" MPS6; ASB; G4S MPS6; ASB; G4S Hydrolase -> Other hydrolase Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism;Sulfur metabolism Homo sapiens RefSeq ILMN_27054 ILMN_26948 ARSB NM_000046.2 NM_000046.2 411 38569404 NM_000046.2 ARSB NP_000037.2 ILMN_1722045 6900309 A 2299 AGCAGAAGGGCGTGAAGAACCGGGAGCTCATCCACATCTCTGACTGGCTG 5 - 78217242-78217291 5q14.1c "Homo sapiens arylsulfatase B (ARSB), transcript variant 1, mRNA." "A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 2303452] [evidence TAS]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases [goid 7040] [pmid 1718978] [evidence TAS]; The directed movement of substances into, out of or within a lysosome [goid 7041] [pmid 2303452] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties [goid 30203] [evidence IEA]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of any sulfuric ester bond, any ester formed from sulfuric acid, O=SO(OH)2 [goid 8484] [evidence IEA]; Catalysis of the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate [goid 3943] [evidence IEA]; Catalysis of the reaction: a phenol sulfate + H2O = a phenol + SO4(2-) (sulfate) [goid 4065] [pmid 2303452] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" MPS6; ASB; G4S MPS6; ASB; G4S Hydrolase -> Other hydrolase Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism;Sulfur metabolism Homo sapiens RefSeq ILMN_4453 ILMN_4453 ARSE NM_000047.1 NM_000047.1 415 4502240 NM_000047.1 ARSE NP_000038.1 ILMN_1727462 3940630 S 1669 CTATCAGGTGATGGAACGAGTCCAGCAGGCGGTGTGGGAACACCAGCGGA X - 2862991-2863040 Xp22.33c-p22.33b "Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA." "A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]" "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 7720070] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the reaction: a phenol sulfate + H2O = a phenol + SO4(2-) (sulfate) [goid 4065] [pmid 9192838] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" MGC163310; CDPX1; CDPXR; CDPX MGC163310; CDPX1; CDPXR; CDPX Lyase -> Other lyase Amino acid metabolism -> Amino acid biosynthesis;Nitrogen metabolism Homo sapiens RefSeq ILMN_16357 ILMN_16357 ASL NM_000048.3 NM_000048.3 435 68303544 NM_000048.3 ASL NP_000039.2 ILMN_1685142 1690128 I 1 GACGCCATCCCGGCCAGAAAAGCCCTGGCCAGTGGCGGGCGCGACACTAT 7 + 65178211-65178260 7q11.21e "Homo sapiens argininosuccinate lyase (ASL), transcript variant 2, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 282632] [evidence TAS]" "A cyclic metabolic pathway that converts waste nitrogen in the form of ammonium to urea [goid 50] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of arginine, 2-amino-5-(carbamimidamido)pentanoic acid [goid 6527] [pmid 282632] [evidence TAS]; The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents [goid 8652] [evidence IEA]; The chemical reactions and pathways resulting in the formation of arginine (2-amino-5-guanidinopentanoic acid) via the intermediate compound ornithine [goid 42450] [evidence IEA]" "Catalysis of the reaction: N-(L-arginino)succinate = fumarate + L-arginine [goid 4056] [pmid 282632] [evidence TAS]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]" ASAL ASAL Hydrolase -> Deacetylase;Protease -> Metalloprotease Amino acid metabolism -> Other amino acid metabolism;Other metabolism Homo sapiens RefSeq ILMN_10596 ILMN_10596 ASPA NM_000049.2 NM_000049.2 443 73622272 NM_000049.2 ASPA NP_000040.1 ILMN_1692824 3140209 S 948 ACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCC 17 + 3348980-3349029 17p13.3a "Homo sapiens aspartoacylase (Canavan disease) (ASPA), transcript variant 1, mRNA." "The chemical reactions and pathways resulting in the breakdown of aspartate, the anion derived from aspartic acid, 2-aminobutanedioic acid [goid 6533] [pmid 8252036] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" Catalysis of the reaction: an N-acyl-L-amino acid + H2O = a carboxylate + an L-amino acid [goid 4046] [pmid 8252036] [evidence TAS]; Catalysis of the hydrolysis of any ester bond [goid 16788] [evidence IEA]; Catalysis of the reaction: N-acyl-L-aspartate + H2O = a fatty acid anion + L-aspartate [goid 19807] [evidence IEA] ASP; ACY2 ASP; ACY2 Ligase -> Other ligase Amino acid metabolism -> Amino acid biosynthesis;Nitrogen metabolism Homo sapiens RefSeq ILMN_18789 ILMN_18789 ASS1 NM_000050.4 NM_000050.4 445 113204625 NM_000050.4 ASS1 NP_000041.2 ILMN_1708778 110433 A 1576 GCAAGGTCACTGCCAAATAGACCCGTGTACAATGAGGAGCTGGGGCCTCC 9 + 132366210-132366229:132366230-132366259 9q34.11e "Homo sapiens argininosuccinate synthetase 1 (ASS1), transcript variant 1, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 6194510] [evidence TAS]" "A cyclic metabolic pathway that converts waste nitrogen in the form of ammonium to urea [goid 50] [pmid 2358466] [evidence TAS]; The chemical reactions and pathways resulting in the formation of arginine, 2-amino-5-(carbamimidamido)pentanoic acid [goid 6526] [evidence IEA]; The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents [goid 8652] [evidence IEA]; The chemical reactions and pathways resulting in the formation of arginine, 2-amino-5-(carbamimidamido)pentanoic acid [goid 6526] [evidence IEA]; The chemical reactions and pathways resulting in the formation of arginine, 2-amino-5-(carbamimidamido)pentanoic acid [goid 6526] [evidence IEA]; The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents [goid 8652] [evidence IEA]; The chemical reactions and pathways resulting in the formation of arginine, 2-amino-5-(carbamimidamido)pentanoic acid [goid 6526] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + L-citrulline + L-aspartate = AMP + diphosphate + (N(omega)-L-arginino)succinate [goid 4055] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12620389] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of the reaction: ATP + L-citrulline + L-aspartate = AMP + diphosphate + (N(omega)-L-arginino)succinate [goid 4055] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + L-citrulline + L-aspartate = AMP + diphosphate + (N(omega)-L-arginino)succinate [goid 4055] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of the reaction: ATP + L-citrulline + L-aspartate = AMP + diphosphate + (N(omega)-L-arginino)succinate [goid 4055] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]" CTLN1; ASS CTLN1; ASS Nucleic acid binding;Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase;Kinase -> Nucleotide kinase Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair;Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Immunity and defense -> Stress response;Apoptosis -> Induction of apoptosis;Cell cycle -> Cell cycle control Homo sapiens RefSeq ILMN_162851 ILMN_162851 ATM NM_000051.3 NM_000051.3 472 71902539 NM_000051.3 ATM NP_000042.3 ILMN_2370825 4250008 A 12765 AGGGAGATAATAGCTTTCCCACCCTACTTTGTGCAGGTCATACCTCCCCA 11 + 107744654-107744703 11q22.3c "Homo sapiens ataxia telangiectasia mutated (ATM), transcript variant 1, mRNA." "The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart [goid 5819] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12607003] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12556884] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11331603] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10550055] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10959836] [evidence EXP]; The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart [goid 5819] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]" "A signal transduction pathway, induced by DNA damage, that blocks cell cycle progression (in G1, G2 or metaphase) or slows the rate at which S phase proceeds [goid 77] [evidence IEA]; The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo [goid 1756] [evidence IEA]; The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction [goid 7292] [evidence IEA]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; A cascade of processes initiated by the detection of DNA damage and resulting in the induction of apoptosis (programmed cell death) [goid 8630] [evidence IEA]; The process of apoptosis in neurons, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system [goid 51402] [evidence IEA]; A signal transduction pathway, induced by DNA damage, that blocks cell cycle progression (in G1, G2 or metaphase) or slows the rate at which S phase proceeds [goid 77] [evidence IEA]; The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo [goid 1756] [evidence IEA]; The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [pmid 9733515] [evidence TAS]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; A signal transduction based surveillance mechanism that ensures the fidelity of cell division by preventing the premature advance of cells from metaphase to anaphase prior to the successful attachment of kinetochores to spindle microtubules (spindle assembly) [goid 7094] [pmid 11943150] [evidence IMP]; The cell cycle process whereby double strand breaks are formed and repaired through a double Holliday junction intermediate. This results in the equal exchange of genetic material between non-sister chromatids in a pair of homologous chromosomes. These reciprocal recombinant products ensure the proper segregation of homologous chromosomes during meiosis I and create genetic diversity [goid 7131] [pmid 7792600] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 7792600] [evidence TAS]; Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction [goid 7292] [evidence IEA]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; The specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death [goid 8219] [evidence IEA]; A cascade of processes initiated by the detection of DNA damage and resulting in the induction of apoptosis (programmed cell death) [goid 8630] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays [goid 10212] [pmid 11375976] [evidence IDA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; The process of apoptosis in neurons, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system [goid 51402] [evidence IEA]" "Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [pmid 11375976] [evidence IDA]; Catalysis of the reaction: ATP + 1-phosphatidyl-1D-myo-inositol = ADP + 1-phosphatidyl-1D-myo-inositol 3-phosphate [goid 16303] [pmid 11375976] [evidence IMP]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 47485] [pmid 11375976] [evidence IDA]" ATD; TELO1; ATA; AT1; ATC; DKFZp781A0353; ATE; TEL1; ATDC; MGC74674 ATD; DKFZp781A0353; ATE; TELO1; ATA; TEL1; ATDC; AT1; MGC74674; ATC Nucleic acid binding;Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase;Kinase -> Nucleotide kinase Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair;Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Immunity and defense -> Stress response;Apoptosis -> Induction of apoptosis;Cell cycle -> Cell cycle control Homo sapiens RefSeq ILMN_11334 ILMN_162851 ATM NM_000051.3 NM_000051.3 472 71902539 NM_000051.3 ATM NP_000042.3 ILMN_1713630 580537 I 211 CAGGGTTTGAACCGGAAGCGGGAGTAGGTAGCTGCGTGGCTAACGGAGAA 11 + 107598979-107599028 11q22.3c "Homo sapiens ataxia telangiectasia mutated (ATM), transcript variant 1, mRNA." "The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart [goid 5819] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12607003] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12556884] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11331603] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10550055] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10959836] [evidence EXP]; The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart [goid 5819] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]" "A signal transduction pathway, induced by DNA damage, that blocks cell cycle progression (in G1, G2 or metaphase) or slows the rate at which S phase proceeds [goid 77] [evidence IEA]; The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo [goid 1756] [evidence IEA]; The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction [goid 7292] [evidence IEA]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; A cascade of processes initiated by the detection of DNA damage and resulting in the induction of apoptosis (programmed cell death) [goid 8630] [evidence IEA]; The process of apoptosis in neurons, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system [goid 51402] [evidence IEA]; A signal transduction pathway, induced by DNA damage, that blocks cell cycle progression (in G1, G2 or metaphase) or slows the rate at which S phase proceeds [goid 77] [evidence IEA]; The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo [goid 1756] [evidence IEA]; The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [pmid 9733515] [evidence TAS]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; A signal transduction based surveillance mechanism that ensures the fidelity of cell division by preventing the premature advance of cells from metaphase to anaphase prior to the successful attachment of kinetochores to spindle microtubules (spindle assembly) [goid 7094] [pmid 11943150] [evidence IMP]; The cell cycle process whereby double strand breaks are formed and repaired through a double Holliday junction intermediate. This results in the equal exchange of genetic material between non-sister chromatids in a pair of homologous chromosomes. These reciprocal recombinant products ensure the proper segregation of homologous chromosomes during meiosis I and create genetic diversity [goid 7131] [pmid 7792600] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 7792600] [evidence TAS]; Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction [goid 7292] [evidence IEA]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; The specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death [goid 8219] [evidence IEA]; A cascade of processes initiated by the detection of DNA damage and resulting in the induction of apoptosis (programmed cell death) [goid 8630] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays [goid 10212] [pmid 11375976] [evidence IDA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; The process of apoptosis in neurons, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system [goid 51402] [evidence IEA]" "Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [pmid 11375976] [evidence IDA]; Catalysis of the reaction: ATP + 1-phosphatidyl-1D-myo-inositol = ADP + 1-phosphatidyl-1D-myo-inositol 3-phosphate [goid 16303] [pmid 11375976] [evidence IMP]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 47485] [pmid 11375976] [evidence IDA]" ATD; TELO1; ATA; AT1; ATC; DKFZp781A0353; ATE; TEL1; ATDC; MGC74674 ATD; DKFZp781A0353; ATE; TELO1; ATA; TEL1; ATDC; AT1; MGC74674; ATC Ion channel;Transporter -> Cation transporter;Hydrolase -> Other hydrolase Transport -> Ion transport -> Cation transport;Homeostasis -> Calcium ion homeostasis Homo sapiens RefSeq ILMN_8500 ILMN_8500 ATP7A NM_000052.3 NM_000052.3 538 115529485 NM_000052.3 ATP7A NP_000043.3 ILMN_1808115 6280414 S 7503 CAAGGATACTTTAATATCCAGTGCCGGTTCAGACTCACCTATGTGGCACC X + 77191589-77191638 Xq21.1a "Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) (ATP7A), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center [goid 5770] [pmid 8943055] [evidence IDA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 9467005] [evidence IDA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 9467005] [evidence IDA]; The network of interconnected tubular and cisternal structures located at the side of the Golgi apparatus distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination [goid 5802] [pmid 12812980] [evidence IDA]; The network of interconnected tubular and cisternal structures located at the side of the Golgi apparatus distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination [goid 5802] [pmid 8943055] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 12812980] [evidence IDA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis [goid 16323] [pmid 16397091] [evidence IDA]; A vesicle that mediates transport between the trans-Golgi network and other parts of the cell [goid 30140] [pmid 9817923] [evidence IMP]; A prolongation or process extending from a nerve cell, e.g. an axon or dendrite [goid 43005] [evidence ISS]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [evidence ISS]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [pmid 10567439] [evidence IDA]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [pmid 16397091] [evidence IDA]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [pmid 8943055] [evidence IDA]" "The directed movement of copper (Cu) ions into, out of, within or between cells [goid 6825] [evidence IEA]; The directed movement of mercury (Hg) ions into, out of, within or between cells [goid 15694] [evidence IEA]; The directed movement of metal ions, any metal ion with an electric charge, into, out of, within or between cells [goid 30001] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of copper (Cu) ions into, out of, within or between cells [goid 6825] [evidence IEA]; The directed movement of mercury (Hg) ions into, out of, within or between cells [goid 15694] [evidence IEA]; The directed movement of metal ions, any metal ion with an electric charge, into, out of, within or between cells [goid 30001] [evidence IEA]; The process whose specific outcome is the progression of the blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood [goid 1568] [evidence ISS]; The reorganization or renovation of existing blood vessels [goid 1974] [evidence ISS]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis [goid 2082] [evidence ISS]; The chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid [goid 6568] [evidence ISS]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The regulation of the levels, transport, and metabolism of copper ions within a cell or between a cell and its external environment [goid 6878] [pmid 16397091] [evidence IMP]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphology and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components [goid 7005] [evidence ISS]; The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions [goid 7626] [evidence ISS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; Any process that reduce or remove the toxicity of copper ion. These include transport of copper away from sensitive areas and to compartments or complexes whose purpose is sequestration of copper ion [goid 10273] [evidence ISS]; The directed movement of copper ions into a cell or organelle [goid 15677] [evidence ISS]; The directed movement of mercury (Hg) ions into, out of, within or between cells [goid 15694] [evidence IEA]; The modification of peptidyl-lysine [goid 18205] [evidence ISS]; Any process involved in removing superoxide radicals (O2-) from a cell or organism, e.g. by conversion to dioxygen (O2) and hydrogen peroxide (H2O2) [goid 19430] [evidence ISS]; The process whereby neuroblasts acquire specialized structural and/or functional features that characterize the mature cerebellar Purkinje cell. Differentiation includes the processes involved in commitment of a neuroblast to a Purkinje cell fate. A Purkinje cell is an inhibitory GABAergic neuron found in the cerebellar cortex that projects to the deep cerebellar nuclei and brain stem [goid 21702] [evidence ISS]; The progression of a pyramidal neuron from its initial formation to its mature state [goid 21860] [evidence ISS]; The process whose specific outcome is the progression of a neuron whose cell body is located in the central nervous system, from initial commitment of the cell to a neuronal fate, to the fully functional differentiated neuron [goid 21954] [evidence ISS]; The directed movement of metal ions, any metal ion with an electric charge, into, out of, within or between cells [goid 30001] [evidence IEA]; Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix [goid 30199] [evidence ISS]; The process by which the anatomical structures of the hair follicle are generated and organized [goid 31069] [evidence ISS]; The process whereby a relatively unspecialized thymocyte acquires specialized features of a T-helper cell [goid 42093] [evidence ISS]; The chemical reactions and pathways involving epinephrine, a hormone produced by the medulla of the adrenal glands that increases heart activity, improves the power and prolongs the action of muscles, and increases the rate and depth of breathing. It is synthesized by the methylation of norepinephrine [goid 42414] [evidence ISS]; The chemical reactions and pathways involving norepinephrine, a hormone secreted by the adrenal medulla, and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts in the central nervous system. It is also the demethylated biosynthetic precursor of epinephrine [goid 42415] [evidence ISS]; The chemical reactions and pathways involving dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline [goid 42417] [evidence ISS]; The chemical reactions and pathways involving serotonin (5-hydroxytryptamine), a monoamine neurotransmitter occurring in the peripheral and central nervous systems, also having hormonal properties [goid 42428] [evidence ISS]; The deposition or aggregation of coloring matter in an organism, tissue or cell [goid 43473] [evidence ISS]; Any process that modulates the occurrence or rate of cell death by apoptosis in the nervous system. It may stop or prevent or reduce the rate of cell death by apoptosis and it is activated by stress to counteract death signals in central nervous systems. Different neuroprotective mechanisms may be activated to combat distinct types of cellular stress, ERK pathway is one of several neuroprotective mechanisms and it is a model system to study neuronal apoptosis, which may contribute to several neurodegenerative diseases and aging-related neuron loss [goid 43526] [evidence ISS]; The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue [goid 43588] [evidence ISS]; Assembly of the extracellular matrix fibers that enables the matrix to recoil after transient stretching [goid 48251] [evidence ISS]; The process whose specific outcome is the progression of the alveolus over time, from its formation to the mature structure. The alveolus is a sac for holding air in the lungs; formed by the terminal dilation of air passageways [goid 48286] [evidence ISS]; Any process that stops, prevents or reduces the frequency, rate or extent of activity of a metalloenzyme. A metalloenzyme is any enzyme that contains metal [goid 48553] [evidence ISS]; Any process that activates, maintains or increases the rate activity of a metalloenzyme. A metalloenzyme is any enzyme that contains metal [goid 48554] [evidence ISS]; The process by which the anatomical structures of neurites are generated and organized. Morphogenesis pertains to the creation of form. A neurite is any process extending from a neural cell, such as axons or dendrites [goid 48812] [evidence ISS]; The process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate [goid 51216] [evidence ISS]; Any process that activates or increases the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered [goid 51353] [pmid 11092760] [evidence IDA]; The chemical reactions and pathways resulting in the formation of elastin, a fibrous glycoprotein found in elastic tissues such as the walls of arteries [goid 51542] [evidence ISS]; The directed movement of copper ions out of a cell or organelle [goid 60003] [evidence ISS]" "Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Cu2+(in) = ADP + phosphate + Cu2+(out) [goid 4008] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of mercury (Hg) ions from one side of a membrane to the other [goid 15097] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Cu2+(in) = ADP + phosphate + Cu2+(out) [goid 4008] [evidence IEA]; Catalysis of the transfer of copper (Cu) ions from one side of a membrane to the other [goid 5375] [evidence IEA]; Interacting selectively with copper (Cu) ions [goid 5507] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of mercury (Hg) ions from one side of a membrane to the other [goid 15097] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of ions across a membrane. The reaction is characterized by the transient formation of a high-energy aspartyl-phosphoryl-enzyme intermediate [goid 15662] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Cu2+(in) = ADP + phosphate + Cu2+(out) [goid 4008] [evidence ISS]; Catalysis of the transfer of copper (Cu) ions from one side of a membrane to the other [goid 5375] [evidence ISS]; Interacting selectively with copper (Cu) ions [goid 5507] [pmid 15670166] [evidence IDA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 9817923] [evidence TAS]; Catalysis of the transfer of mercury (Hg) ions from one side of a membrane to the other [goid 15097] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of ions across a membrane. The reaction is characterized by the transient formation of a high-energy aspartyl-phosphoryl-enzyme intermediate [goid 15662] [evidence IEA]; A copper chaperone activity that specifically delivers copper to the Cu-Zn superoxide dismutase [goid 16532] [evidence ISS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of an acid anhydride to directly drive the transport of a substance across a membrane [goid 16820] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules), in the presence of copper [goid 32767] [pmid 10497213] [evidence IPI]; Catalysis of the transfer of metal ions from one side of a membrane to the other [goid 46873] [evidence IEA]" MK; MNK MK; MNK Ion channel;Transporter -> Cation transporter;Hydrolase -> Other hydrolase Transport -> Ion transport -> Cation transport;Homeostasis -> Calcium ion homeostasis Homo sapiens RefSeq ILMN_21935 ILMN_21935 ATP7B NM_000053.2 NM_000053.2 540 55743070 NM_000053.2 ATP7B NP_000044.2 ILMN_1722056 7510259 A 6338 ACTCCAGCCCGCAGCACATTTCCGCTGTCCGTCAGTAATTGTGTCCTCTC 13 - 51405060-51405109 13q14.3d "Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center [goid 5770] [pmid 15681833] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; The network of interconnected tubular and cisternal structures located at the side of the Golgi apparatus distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination [goid 5802] [evidence IEA]; The network of interconnected tubular and cisternal structures located at the side of the Golgi apparatus distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination [goid 5802] [pmid 16472602] [evidence IDA]; The network of interconnected tubular and cisternal structures located at the side of the Golgi apparatus distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination [goid 5802] [pmid 15269005] [evidence IDA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8298641] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A membrane-bounded vesicle found in the cytoplasm of the cell [goid 16023] [pmid 16472602] [evidence IDA]; The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis [goid 16323] [pmid 15269005] [evidence IDA]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [pmid 16939419] [evidence IDA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of copper (Cu) ions into, out of, within or between cells [goid 6825] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The directed movement of metal ions, any metal ion with an electric charge, into, out of, within or between cells [goid 30001] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The regulation of the levels, transport, and metabolism of copper ions within a cell or between a cell and its external environment [goid 6878] [evidence IEA]; The regulation of the levels, transport, and metabolism of copper ions within a cell or between a cell and its external environment [goid 6878] [pmid 16554302] [evidence TAS]; The regulation of the levels, transport, and metabolism of zinc ions within a cell or between a cell and its external environment [goid 6882] [evidence IEA]; The secretion of milk by the mammary gland [goid 7595] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The directed movement of copper ions into a cell or organelle [goid 15677] [pmid 16472602] [evidence IDA]; The directed movement of copper (Cu) ions within a cell [goid 15680] [evidence IEA]; The directed movement of metal ions, any metal ion with an electric charge, into, out of, within or between cells [goid 30001] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a copper ion stimulus [goid 46688] [pmid 16472602] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a copper ion stimulus [goid 46688] [pmid 15269005] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a copper ion stimulus [goid 46688] [pmid 16939419] [evidence IDA]; The process of binding or confining calcium ions such that they are separated from other components of a biological system [goid 51208] [pmid 16472602] [evidence IDA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Cu2+(in) = ADP + phosphate + Cu2+(out) [goid 4008] [evidence IEA]; Interacting selectively with copper (Cu) ions [goid 5507] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of ions across a membrane. The reaction is characterized by the transient formation of a high-energy aspartyl-phosphoryl-enzyme intermediate [goid 15662] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of an acid anhydride to directly drive the transport of a substance across a membrane [goid 16820] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the transfer of metal ions from one side of a membrane to the other [goid 46873] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Cu2+(in) = ADP + phosphate + Cu2+(out) [goid 4008] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Cu2+(in) = ADP + phosphate + Cu2+(out) [goid 4008] [pmid 16472602] [evidence TAS]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Cu2+(in) = ADP + phosphate + Cu2+(out) [goid 4008] [pmid 12763797] [evidence NAS]; Catalysis of the transfer of copper (Cu) ions from one side of a membrane to the other [goid 5375] [evidence IEA]; Interacting selectively with copper (Cu) ions [goid 5507] [pmid 12029094] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16554302] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16884690] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 16567646] [evidence IDA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of ions across a membrane. The reaction is characterized by the transient formation of a high-energy aspartyl-phosphoryl-enzyme intermediate [goid 15662] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of an acid anhydride to directly drive the transport of a substance across a membrane [goid 16820] [evidence IEA]; Catalysis of the transfer of metal ions from one side of a membrane to the other [goid 46873] [evidence IEA]" WC1; PWD; WND; WD WC1; PWD; WND; WD Ion channel;Transporter -> Cation transporter;Hydrolase -> Other hydrolase Transport -> Ion transport -> Cation transport;Homeostasis -> Calcium ion homeostasis Homo sapiens RefSeq ILMN_21935 ILMN_21935 ATP7B NM_000053.2 NM_000053.2 540 55743070 NM_000053.2 ATP7B NP_000044.2 ILMN_1696223 1230601 I 2384 TATTCTCTGGTCATCCTGGTGGTTGCTGTGGCTGAGAAGGCGGAGAGGAG 13 - 51430526-51430575 13q14.3d "Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center [goid 5770] [pmid 15681833] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; The network of interconnected tubular and cisternal structures located at the side of the Golgi apparatus distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination [goid 5802] [evidence IEA]; The network of interconnected tubular and cisternal structures located at the side of the Golgi apparatus distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination [goid 5802] [pmid 16472602] [evidence IDA]; The network of interconnected tubular and cisternal structures located at the side of the Golgi apparatus distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination [goid 5802] [pmid 15269005] [evidence IDA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8298641] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A membrane-bounded vesicle found in the cytoplasm of the cell [goid 16023] [pmid 16472602] [evidence IDA]; The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis [goid 16323] [pmid 15269005] [evidence IDA]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [pmid 16939419] [evidence IDA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of copper (Cu) ions into, out of, within or between cells [goid 6825] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The directed movement of metal ions, any metal ion with an electric charge, into, out of, within or between cells [goid 30001] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The regulation of the levels, transport, and metabolism of copper ions within a cell or between a cell and its external environment [goid 6878] [evidence IEA]; The regulation of the levels, transport, and metabolism of copper ions within a cell or between a cell and its external environment [goid 6878] [pmid 16554302] [evidence TAS]; The regulation of the levels, transport, and metabolism of zinc ions within a cell or between a cell and its external environment [goid 6882] [evidence IEA]; The secretion of milk by the mammary gland [goid 7595] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The directed movement of copper ions into a cell or organelle [goid 15677] [pmid 16472602] [evidence IDA]; The directed movement of copper (Cu) ions within a cell [goid 15680] [evidence IEA]; The directed movement of metal ions, any metal ion with an electric charge, into, out of, within or between cells [goid 30001] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a copper ion stimulus [goid 46688] [pmid 16472602] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a copper ion stimulus [goid 46688] [pmid 15269005] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a copper ion stimulus [goid 46688] [pmid 16939419] [evidence IDA]; The process of binding or confining calcium ions such that they are separated from other components of a biological system [goid 51208] [pmid 16472602] [evidence IDA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Cu2+(in) = ADP + phosphate + Cu2+(out) [goid 4008] [evidence IEA]; Interacting selectively with copper (Cu) ions [goid 5507] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of ions across a membrane. The reaction is characterized by the transient formation of a high-energy aspartyl-phosphoryl-enzyme intermediate [goid 15662] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of an acid anhydride to directly drive the transport of a substance across a membrane [goid 16820] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the transfer of metal ions from one side of a membrane to the other [goid 46873] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Cu2+(in) = ADP + phosphate + Cu2+(out) [goid 4008] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Cu2+(in) = ADP + phosphate + Cu2+(out) [goid 4008] [pmid 16472602] [evidence TAS]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Cu2+(in) = ADP + phosphate + Cu2+(out) [goid 4008] [pmid 12763797] [evidence NAS]; Catalysis of the transfer of copper (Cu) ions from one side of a membrane to the other [goid 5375] [evidence IEA]; Interacting selectively with copper (Cu) ions [goid 5507] [pmid 12029094] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16554302] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16884690] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 16567646] [evidence IDA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of ions across a membrane. The reaction is characterized by the transient formation of a high-energy aspartyl-phosphoryl-enzyme intermediate [goid 15662] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of an acid anhydride to directly drive the transport of a substance across a membrane [goid 16820] [evidence IEA]; Catalysis of the transfer of metal ions from one side of a membrane to the other [goid 46873] [evidence IEA]" WC1; PWD; WND; WD WC1; PWD; WND; WD Receptor -> G-protein coupled receptor Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Signal transduction -> Intracellular signaling cascade -> Calcium mediated signaling;Signal transduction -> Cell communication;Neuronal activities;Blood circulation and gas exchange -> Regulation of vasoconstriction, dilation Homo sapiens RefSeq ILMN_16078 ILMN_182286 AVPR2 NM_000054.2 NM_000054.2 554 4895106 NM_000054.2 AVPR2 NP_000045.1 ILMN_1698324 4200576 S 1521 TCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGG X + 152825551-152825600 Xq28f "Homo sapiens arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) (AVPR2), mRNA." "Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [pmid 10858434] [evidence TAS]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 10880054] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 10880054] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10749568] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 1303257] [evidence TAS]" "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8999963] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by modulation of adenylyl cyclase activity and a subsequent change in the concentration of cyclic AMP [goid 7188] [pmid 10880054] [evidence TAS]; Any process that initiates the activity of the inactive enzyme adenylate cyclase [goid 7190] [pmid 9224808] [evidence TAS]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 1303257] [evidence TAS]; The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part [goid 7599] [pmid 10880054] [evidence TAS]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with vasopressin to initiate a change in cell activity [goid 5000] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with vasopressin to initiate a change in cell activity [goid 5000] [pmid 8999963] [evidence TAS] DI1; V2R; MGC126533; DIR; NDI; DIR3; ADHR; MGC138386 DI1; V2R; MGC126533; DIR; NDI; DIR3; ADHR; MGC138386 Hydrolase -> Esterase Neuronal activities -> Synaptic transmission -> Neuromuscular synaptic transmission Homo sapiens RefSeq ILMN_26619 ILMN_26619 BCHE NM_000055.1 NM_000055.1 590 4557350 NM_000055.1 BCHE NP_000046.1 ILMN_2176592 2030414 S 2261 CCCCCCAAAATTATCAGTGCTCTGCTTTTAGTCACGTGTATTTTCATTAC 3 - 166973519-166973568 3q26.1e "Homo sapiens butyrylcholinesterase (BCHE), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The region between the two lipid bilayers of the nuclear envelope; 20-40 nm wide [goid 5641] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The region between the two lipid bilayers of the nuclear envelope; 20-40 nm wide [goid 5641] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The chemical reactions and pathways involving cocaine, an alkaloid obtained from the dried leaves of the shrub Erythroxylon coca. It is a cerebral stimulant and narcotic [goid 50783] [pmid 8622553] [evidence TAS]" "Interacting selectively with beta-amyloid peptide/protein and/or its precursor [goid 1540] [pmid 11569538] [evidence NAS]; Catalysis of the reaction: an acylcholine + H2O = choline + a carboxylic acid anion [goid 4104] [evidence NAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with any enzyme [goid 19899] [pmid 11569538] [evidence NAS]; Catalysis of the reaction: a carboxylic ester + H2O = an alcohol + a carboxylic anion [goid 4091] [evidence IEA]" CHE1; E1 CHE1; E1 Oxidoreductase -> Dehydrogenase Amino acid metabolism -> Amino acid catabolism Homo sapiens RefSeq ILMN_4757 ILMN_4757 BCKDHB NM_000056.2 NM_000056.2 594 34101266 NM_000056.2 BCKDHB NP_000047.1 ILMN_2390453 2140138 A 1103 CCTAGAGGCTCCTATATCAAGAGTATGTGGTTATGACACACCATTTCCTC 6 + 81110117-81110166 6q14.1d "Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 2022752] [evidence IMP]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]; Mitochondrial complex that possesses alpha-ketoglutarate dehydrogenase activity [goid 5947] [pmid 2022752] [evidence IMP]" "The chemical reactions and pathways resulting in the breakdown of amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine [goid 9083] [pmid 2022752] [evidence IMP]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" " [goid 3826] [evidence IEA]; Catalysis of the reaction: 3-methyl-2-oxobutanoate + lipoamide = S-(2-methylpropanoyl)dihydrolipoamide + CO2 [goid 3863] [pmid 2365818] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12902323] [evidence IPI]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound [goid 16831] [pmid 11839747] [evidence TAS]" E1B E1B Nucleic acid binding -> Helicase -> DNA helicase Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA recombination;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication Homo sapiens RefSeq ILMN_10872 ILMN_10872 BLM NM_000057.2 NM_000057.2 641 105990533 NM_000057.2 BLM NP_000048.1 ILMN_1709484 2450717 S 4113 TGCCAGCCTCCCAAAGGTCTAAGAGGAGAAAAACTGCTTCCAGTGGTTCC 15 + 89155580-89155629 15q26.1c "Homo sapiens Bloom syndrome (BLM), mRNA." "The terminal region of a linear chromosome that includes the telomeric DNA repeats and associated proteins [goid 781] [pmid 10779560] [evidence IDA]; A proteinaceous core found between sister chromatids during meiotic prophase [goid 800] [pmid 10728666] [evidence IDA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9388480] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 11500040] [evidence IDA]; The Y-shaped region of a replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes [goid 5657] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 10779560] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The dense fibrillar network lying on the inner side of the nuclear membrane [goid 16363] [pmid 11309417] [evidence IDA]; A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection [goid 16605] [pmid 10728666] [evidence IDA]; A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection [goid 16605] [pmid 10779560] [evidence IDA]" "Any process that modulates the frequency, rate or extent of CDK activity [goid 79] [pmid 15604258] [evidence IMP]; Progression through G2 phase, one of two 'gap' phases in the mitotic cell cycle; G2 is the interval between the completion of DNA synthesis and the beginning of mitosis [goid 85] [pmid 11309417] [evidence NAS]; Any process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins and the length of telomeric DNA. These processes includes those that shorten and lengthen the telomeric DNA sequences [goid 723] [evidence IEA]; The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule [goid 724] [pmid 11309417] [evidence NAS]; The process whereby new strands of DNA are synthesized. The template for replication can either be an existing DNA molecule or RNA [goid 6260] [evidence IEA]; The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [pmid 7585968] [evidence NAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz) [goid 10165] [pmid 11309417] [evidence IDA]; The process by which a DNA replication fork that has stalled (due to DNA damage, DNA secondary structure, bound proteins, dNTP shortage, or other causes) is repaired and replication is restarted [goid 31297] [pmid 17115688] [evidence IDA]; A cell cycle checkpoint that blocks cell cycle progression from G2 to M phase in response to DNA damage [goid 31572] [pmid 11309417] [evidence NAS]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription [goid 45941] [pmid 11781842] [evidence IDA]; Any process that inhibits or decreases the rate of DNA recombination during mitosis [goid 45950] [evidence IEA]; The process whereby a precursor cell type acquires the specialized features of an alpha-beta T cell [goid 46632] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of alpha-beta T cell proliferation [goid 46641] [evidence IEA]; Any process that prevents the collapse of stalled replication forks [goid 48478] [pmid 10779560] [evidence NAS]; Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule [goid 51098] [evidence IEA]; The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer [goid 51259] [pmid 10359700] [evidence IDA]; A process that is carried out at the cellular level that results in the formation, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information [goid 51276] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell division [goid 51782] [pmid 11781842] [evidence IMP]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selective with DNA that contains a bubble. A bubble occurs when DNA contains a region of unpaired, single-stranded DNA flanked on both sides by regions of paired, double-stranded DNA [goid 405] [pmid 11433031] [evidence IDA]; Facilitates the base-pairing of complementary single-stranded DNA [goid 739] [pmid 17878217] [evidence IDA]; Interacting selectively with one of the p53 family of proteins [goid 2039] [pmid 11781842] [evidence IPI]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 17878217] [evidence IDA]; Catalysis of the unwinding of the DNA helix of DNA containing four-way junctions, including Holliday junctions [goid 9378] [pmid 11433031] [evidence IDA]; Catalysis of the unwinding of the DNA helix of DNA containing four-way junctions, including Holliday junctions [goid 9378] [pmid 12818200] [evidence IDA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of any acid anhydride which contains phosphorus [goid 16818] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [pmid 17878217] [evidence IDA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate; drives the unwinding of the DNA helix in the direction 3' to 5' [goid 43140] [evidence IEA]; Interacting selectively with G-quadruplex DNA structures, in which groups of four guanines adopt a flat, cyclic Hoogsteen hydrogen-bonding arrangement known as a guanine tetrad. The stacking of guanine tetrads results in G-quadruplex DNA structures. G-quadruplex DNA can form under physiological conditions from some G-rich sequences, such as those found in telomeres, immunoglobulin switch regions, gene promoters, fragile X repeats, and the dimerization domain in the human immunodeficiency virus (HIV) genome [goid 51880] [pmid 11433031] [evidence IDA]" MGC131620; MGC131618; MGC126616; RECQL2; BS; RECQ2; RECQL3 MGC126616; RECQL2; BS; RECQ2; MGC131620; RECQL3; MGC131618 Nucleic acid binding -> Damaged DNA-binding protein Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair;Oncogenesis -> Tumor suppressor Homo sapiens RefSeq ILMN_139227 ILMN_181359 BRCA2 NM_000059.3 NM_000059.3 675 119395733 NM_000059.3 BRCA2 NP_000050.2 ILMN_1677794 1570327 S 10410 GAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACAC 13 + 31870833-31870882 13q13.1a "Homo sapiens breast cancer 2, early onset (BRCA2), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9774970] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9560268] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 17286961] [evidence IDA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12606939] [evidence EXP]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 17286961] [evidence IDA]; A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules [goid 30141] [pmid 8589722] [evidence IDA]; A heterodimeric protein complex formed of BRCA2 and MAGE-D1; may mediate the synergistic activities of the two proteins in regulating cell growth [goid 33593] [pmid 15930293] [evidence IDA]" "The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule [goid 724] [evidence IEA]; A developmental process, independent of morphogenetic (shape) change, that is required for an oocyte to attain its fully functional state. Oocyte maturation commences after reinitiation of meiosis commonly starting with germinal vesicle breakdown, and continues up to the second meiotic arrest prior to fertilization [goid 1556] [evidence IEA]; The proliferation of cells in the inner cell mass [goid 1833] [evidence IEA]; In nucleotide excision repair a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts) [goid 6289] [pmid 16845393] [evidence IMP]; Any process by which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Intrachromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction [goid 6310] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 9619837] [evidence IC ]; A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, resulting in the induction of the transcription of p21 (also known as WAF1, CIP1 and SDI1) or any equivalent protein, in response to the detection of DNA damage [goid 6978] [evidence IEA]; A cell cycle process that modulates the frequency, rate or extent of the progression through the S phase of the mitotic cell cycle [goid 7090] [pmid 9774970] [evidence NAS]; Progression through male meiosis I, the first meiotic division in the male germline [goid 7141] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [evidence IEA]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [evidence IEA]; Progression of the cell from its inception to the end of its lifespan [goid 7569] [evidence IEA]; The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure [goid 8585] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz) [goid 10165] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a UV-C radiation stimulus. UV-C radiation (UV-C light) spans the wavelengths 100 to 290 nm [goid 10225] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum [goid 10332] [evidence IEA]; Cytokinesis that occurs in the context of cell cycle progression and result in the division of the cytoplasm of a cell and its separation into two daughter cells [goid 33205] [pmid 17286961] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a genistein stimulus [goid 33595] [pmid 16434996] [evidence IDA]; Any process that stops, prevents or reduces the rate or extent of mammary gland epithelial cell proliferation [goid 33600] [pmid 15930293] [evidence IDA]; A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage and resulting in the initiation of apoptosis (programmed cell death) [goid 42771] [evidence IEA]; The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching [goid 43009] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by an estrogen, C18 steroid hormones that can stimulate the development of female sexual characteristics [goid 43627] [pmid 8895509] [evidence IDA]; Any process that activates or increases the rate or extent of progression through the mitotic cell cycle [goid 45931] [evidence IEA]; Any process that prevents the collapse of stalled replication forks [goid 48478] [evidence IEA]; A process that is carried out at the cellular level that results in the formation, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information [goid 51276] [evidence IEA]; The replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized [goid 51298] [pmid 17286961] [evidence IDA]" Interacting selectively with single-stranded DNA [goid 3697] [evidence IEA]; Catalysis of the reaction: acetyl-CoA + histone = CoA + acetyl-histone [goid 4402] [pmid 9824164] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16275750] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10373512] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9774970] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11597317] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16099937] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12242698] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15967112] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12242698] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15930293] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17515903] [evidence IPI]; Any transcription regulator activity required for initiation or upregulation of transcription [goid 16563] [pmid 9619837] [evidence IDA]; Interacting selectively with the microtubule constituent protein gamma-tubulin [goid 43015] [pmid 17286961] [evidence IPI] FANCB; FACD; FANCD1; BRCC2; FANCD; FAD1; FAD FANCB; FACD; FANCD1; BRCC2; FANCD; FAD1; FAD Hydrolase -> Other hydrolase Coenzyme and prosthetic group metabolism -> Vitamin metabolism Homo sapiens RefSeq ILMN_24816 ILMN_24816 BTD NM_000060.2 NM_000060.2 686 59806340 NM_000060.2 BTD NP_000051.1 ILMN_1699728 1410091 S 1720 GTATGAGAGGGACTAGGAAAAGTGTGTGGTCTGTGGGGCGGACTCTGGCC 3 + 15661984-15661999:15662000-15662033 3p24.3e "Homo sapiens biotinidase (BTD), mRNA." "A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [evidence IEA]; The portion of the cell soma (cell body) that excludes the nucleus [goid 43204] [evidence IEA]; The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue [goid 45177] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [evidence IEA]; The portion of the cell soma (cell body) that excludes the nucleus [goid 43204] [evidence IEA]; The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue [goid 45177] [evidence IEA]" "The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds; includes nitrogen fixation, nitrification, denitrification, assimilatory/dissimilatory nitrate reduction and the interconversion of nitrogenous organic matter and ammonium [goid 6807] [evidence IEA]; The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds; includes nitrogen fixation, nitrification, denitrification, assimilatory/dissimilatory nitrate reduction and the interconversion of nitrogenous organic matter and ammonium [goid 6807] [evidence IEA]; The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord [goid 7417] [pmid 7550325] [evidence TAS]; The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 7550325] [evidence TAS]" Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a linear amide [goid 16811] [evidence IEA]; Catalysis of the reaction: ATP + biotin-carboxyl-carrier protein + CO2 = ADP + phosphate + carboxybiotin-carboxyl-carrier protein [goid 4075] [pmid 7509806] [evidence TAS]; Catalysis of the reaction: biotin amide + H2O = biotin + NH3 [goid 47708] [evidence IEA] Kinase -> Protein kinase -> Non-receptor tyrosine protein kinase Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Intracellular signaling cascade;Immunity and defense -> T-cell mediated immunity;Immunity and defense -> Stress response;Apoptosis Homo sapiens RefSeq ILMN_28021 ILMN_28021 BTK NM_000061.1 NM_000061.1 695 4557376 NM_000061.1 BTK NP_000052.1 ILMN_1662026 6380161 S 2401 TTAGGAGGGAGGATGTAAATAGCCGCACAAAGGGGTCCAACAGCTCTTTG X - 100491221-100491270 Xq22.1c "Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 15046600] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]; Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions [goid 45121] [pmid 15046600] [evidence IDA]" "The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [pmid 11913944] [evidence TAS]; A series of reactions initiated by the activation of the transcription factor NF-kappaB. NF-kappaB is sequestered by the inhibitor I-kappaB, and is released when I-kappaB is phosphorylated by activated I-kappaB kinase [goid 7249] [evidence IEA]; The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue [goid 7498] [pmid 8013627] [evidence TAS]; Any process induced by extracellular signals that directly activates any of the steps required for cell death by apoptosis [goid 8624] [pmid 8688094] [evidence TAS]; The posttranslational phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine [goid 18108] [evidence IEA]; A series of molecular signals in which a cell uses calcium ions to convert an extracellular signal into a response [goid 19722] [pmid 15046600] [evidence TAS]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate [goid 4713] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate [goid 4715] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate [goid 4715] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 11913944] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 11577348] [evidence IPI]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" MGC126261; ATK; XLA; IMD1; AT; BPK; AGMX1; PSCTK1; MGC126262 MGC126261; ATK; XLA; IMD1; AT; BPK; AGMX1; PSCTK1; MGC126262 Select regulatory molecule -> Protease inhibitor -> Serine protease inhibitor Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_14941 ILMN_166340 SERPING1 NM_000062.2 NM_000062.2 710 73858567 NM_000062.2 SERPING1 NP_000053.2 ILMN_1711272 3450538 I 109 TGACCCTGGGGGACTCTCTACTCAGTCTGCACTGGAGCTGCCTGGTGACC 11 + 57121711-57121760 11q12.1a "Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) (SERPING1), transcript variant 1, mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3965505] [evidence EXP]; The volume enclosed by the membrane of the platelet alpha granule [goid 31093] [pmid 3965505] [evidence EXP] "Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes [goid 6958] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [evidence IEA]; The flow of blood through the body of an animal, enabling the transport of O2 and nutrients to the tissues and the removal of waste products [goid 8015] [pmid 2563376] [evidence TAS]; The flow of blood through the body of an animal, enabling the transport of O2 and nutrients to the tissues and the removal of waste products [goid 8015] [pmid 2365061] [evidence TAS]; Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens [goid 45087] [evidence IEA]" "Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [evidence IEA]; Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [pmid 1363816] [evidence TAS]" C1NH; HAE2; C1IN; HAE1; C1INH C1NH; HAE2; C1IN; HAE1; C1INH Protease -> Serine protease;Defense/immunity protein -> Complement component Protein metabolism and modification -> Proteolysis;Immunity and defense -> Complement-mediated immunity Homo sapiens RefSeq ILMN_23604 ILMN_23604 C2 NM_000063.3 NM_000063.3 717 20631970 NM_000063.3 C2 NP_000054.2 ILMN_1710740 670594 S 2328 GAATCTGCCGCCCCTCCATCTTCTACCTCTGAATGGCCACCCTTAGACCC 6 + 32021146-32021195 6p21.32b "Homo sapiens complement component 2 (C2), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 12878586] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 15199963] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 6019133] [evidence EXP]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 8621452] [evidence TAS]" "The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; Any process involved in the activation of any of the steps of the alternative pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes [goid 6957] [pmid 162484] [evidence EXP]; Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes [goid 6958] [pmid 8621452] [evidence TAS]" "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" DKFZp779M0311; CO2 CO2; DKFZp779M0311 Defense/immunity protein -> Complement component Immunity and defense -> Complement-mediated immunity Homo sapiens RefSeq ILMN_5682 ILMN_5682 C3 NM_000064.1 NM_000064.1 718 4557384 NM_000064.1 C3 NP_000055.1 ILMN_1762260 4860494 S 3824 GGCTCAATGAACAGAGATACTACGGTGGTGGCTATGGCTCTACCCAGGCC 19 - 6636154-6636157:6637135-6637180 19p13.3a "Homo sapiens complement component 3 (C3), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 279011] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 15199963] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 12878586] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3052276] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 6912277] [evidence EXP] "Any process that activates or increases the frequency, rate or extent of type IIa hypersensitivity, a type of inflammatory response [goid 1798] [evidence IEA]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [evidence IEA]; Any process involved in the activation of any of the steps of the alternative pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes [goid 6957] [evidence IEA]; Any process involved in the activation of any of the steps of the alternative pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes [goid 6957] [pmid 162484] [evidence EXP]; Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes [goid 6958] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10085065] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 9164946] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of phagocytosis [goid 50766] [evidence IEA]" "Stops, prevents or reduces the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides [goid 4866] [evidence IEA]; Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [pmid 9164946] [evidence TAS]" ASP; CPAMD1 ASP; CPAMD1 Defense/immunity protein -> Complement component Immunity and defense -> Complement-mediated immunity Homo sapiens RefSeq ILMN_33011 ILMN_5682 C3 NM_000064.2 NM_000064.2 718 115298677 NM_000064.2 C3 NP_000055.2 ILMN_1662523 7510286 S 375 TTCGTGACCGTGCAGGCCACCTTCGGGACCCAAGTGGTGGAGAAGGTGGT 19 - 6669328-6669377 19p13.3a "Homo sapiens complement component 3 (C3), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 279011] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 15199963] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 12878586] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3052276] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 6912277] [evidence EXP] "Any process that activates or increases the frequency, rate or extent of type IIa hypersensitivity, a type of inflammatory response [goid 1798] [evidence IEA]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [evidence IEA]; Any process involved in the activation of any of the steps of the alternative pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes [goid 6957] [evidence IEA]; Any process involved in the activation of any of the steps of the alternative pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes [goid 6957] [pmid 162484] [evidence EXP]; Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes [goid 6958] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10085065] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 9164946] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of phagocytosis [goid 50766] [evidence IEA]" "Stops, prevents or reduces the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides [goid 4866] [evidence IEA]; Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [pmid 9164946] [evidence TAS]" ASP; ARMD9; CPAMD1 ASP; ARMD9; CPAMD1 Defense/immunity protein -> Complement component Immunity and defense -> Complement-mediated immunity Homo sapiens RefSeq ILMN_26267 ILMN_26267 C6 NM_000065.1 NM_000065.1 729 4559405 NM_000065.1 C6 NP_000056.1 ILMN_1688242 6520040 S 3105 ATTCTCCCCTGACTCTCCTGTTTGGGCATGTCTTATTCAGTTCCAGCTCA 5 - 41178489-41178538 5p13.1a "Homo sapiens complement component 6 (C6), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3052276] [evidence EXP]; A protein complex produced by sequentially activated components of the complement cascade inserted into a target cell membrane and forming a pore leading to cell lysis via ion and water flow [goid 5579] [evidence IEA] "Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes [goid 6958] [evidence IEA]; The rupture of cell membranes and the loss of cytoplasm [goid 19835] [evidence IEA]; Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens [goid 45087] [evidence IEA]" Defense/immunity protein -> Complement component Immunity and defense -> Complement-mediated immunity Homo sapiens RefSeq ILMN_12250 ILMN_181003 C8B NM_000066.2 NM_000066.2 732 72377258 NM_000066.2 C8B NP_000057.1 ILMN_1731293 5260551 S 1606 CCCTGTCCTGAAAGGATCACGCTGTGACTGCATCTGTCCTGTTGGATCCC 1 - 57170103-57170139:57171596-57171608 1p32.2b "Homo sapiens complement component 8, beta polypeptide (C8B), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3052276] [evidence EXP]; A protein complex produced by sequentially activated components of the complement cascade inserted into a target cell membrane and forming a pore leading to cell lysis via ion and water flow [goid 5579] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [pmid 2820472] [evidence TAS]" "Any process involved in the activation of any of the steps of the alternative pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes [goid 6957] [evidence IEA]; Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes [goid 6958] [evidence IEA]; The rupture of cell membranes and the loss of cytoplasm [goid 19835] [evidence IEA]" MGC163447 MGC163447 Lyase -> Dehydratase Other metabolism -> Other carbon metabolism Homo sapiens RefSeq ILMN_28750 ILMN_28750 CA2 NM_000067.1 NM_000067.1 760 4557394 NM_000067.1 CA2 NP_000058.1 ILMN_2199439 2060674 S 1111 AGTACCTTGACTTTGTTCACAGCATGTAGGGTGATGAGCACTCACAATTG 8 + 86580533-86580582 8q21.2b "Homo sapiens carbonic anhydrase II (CA2), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 114507] [evidence IDA]" "The process by which the anatomical structures of epithelia are generated and organized. Morphogenesis pertains to the creation of form. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube [goid 2009] [evidence IEA]; The chemical reactions and pathways involving compounds containing a single carbon atom [goid 6730] [evidence IEA]; The directed movement of carbon dioxide (CO2) into, out of, within or between cells [goid 15670] [evidence IEA]; The regulated release of a substance by a cell, a group of cells, or a tissue [goid 46903] [evidence IEA]" "Catalysis of the reaction: H2CO3 = CO2 + H2O [goid 4089] [pmid 1928091] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 3151020] [evidence IDA]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" Car2; CA-II; CAII; CA II Car2; CA-II; CAII; CA II Ion channel -> Voltage-gated ion channel -> Voltage-gated calcium channel Transport -> Ion transport -> Cation transport;Neuronal activities -> Synaptic transmission -> Neurotransmitter release;Muscle contraction Homo sapiens RefSeq ILMN_21024 ILMN_21024 CACNA1A NM_000068.2 NM_000068.2 773 13386499 NM_000068.2 CACNA1A NP_000059.2 ILMN_2340815 6110019 A 6469 TCTCAGTCCGTGGAGATGCGAGAGATGGGCAGAGATGGCTACTCCGACAG 19 - 13183983-13184030:13184198-13184199 19p13.13b-p13.13a "Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 1, mRNA." "Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 16595610] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16595610] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 16595610] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8825650] [evidence EXP]; A protein complex that forms a transmembrane channel through which calcium ions may pass in response to changes in membrane potential [goid 5891] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 16595610] [evidence TAS]; A branching protoplasmic process of a neuron that receive and integrate signals coming from axons of other neurons, and convey the resulting signal to the body of the cell [goid 30425] [evidence IEA]; A prolongation or process extending from a cell, e.g. a flagellum or axon [goid 42995] [pmid 16595610] [evidence IDA]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [evidence IEA]" "The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]; The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine [goid 96] [evidence IEA]; The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides [goid 6006] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]; Any process that increases the concentration of calcium ions in the cytosol [goid 7204] [evidence ISS]; The series of molecular signals generated by the binding of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, to a cell surface receptor [goid 7214] [evidence IEA]; The process of communication from a neuron to a muscle, across a synapse [goid 7274] [evidence IEA]; The biosynthesis of a synapse [goid 7416] [evidence IEA]; The actions or reactions of an adult relating to the progression of that organism along the ground by the process of lifting and setting down each leg [goid 7628] [evidence IEA]; The specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death [goid 8219] [pmid 16595610] [evidence IDA]; The regulated release of gamm-aminobutyric acid by a cell or group of cells. The gamma-aminobutyric acid is the principal inhibitory neurotransmitter in the brain but is also found in several extraneural tissues [goid 14051] [evidence IEA]; Any process that modulates the frequency, rate or extent of the regulated release of acetylcholine [goid 14056] [evidence IEA]; The process by which a cell irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present [goid 16049] [evidence IEA]; Any process that modulates the frequency, rate or extent of calcium ion-dependent exocytosis [goid 17158] [evidence IEA]; A developmental process, independent of morphogenetic (shape) change, that is required for the cerebellum to attain its fully functional state. The cerebellum is the portion of the brain in the back of the head between the cerebrum and the pons. The cerebellum controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills [goid 21590] [evidence IEA]; The process whose specific outcome is the progression of the cerebellar molecular layer nerve over time, from its formation to the mature structure. The molecular layer is the outermost layer of the cerebellar cortex. It contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells [goid 21679] [evidence IEA]; The process whose specific outcome is the progression of the cerebellar Purkinje cell layer over time, from its formation to the mature structure. The Purkinje cell layer lies just underneath the molecular layer of the cerebellar cortex. It contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer. Candelabrum interneurons are vertically oriented between the Purkinje cells. Purkinje neurons are inhibitory and provide the output of the cerebellar cortex through axons that project into the white matter. Extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells [goid 21680] [evidence IEA]; The process whereby neuroblasts acquire specialized structural and/or functional features that characterize the mature cerebellar Purkinje cell. Differentiation includes the processes involved in commitment of a neuroblast to a Purkinje cell fate. A Purkinje cell is an inhibitory GABAergic neuron found in the cerebellar cortex that projects to the deep cerebellar nuclei and brain stem [goid 21702] [evidence IEA]; The process whose specific outcome is the progression of the vestibular nucleus over time, from its formation to the mature structure [goid 21750] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a neuron whose cell body resides in the central nervous system [goid 21953] [evidence IEA]; The regulation of the levels, transport, and metabolism of chloride ions within a cell or between a cell and its external environment [goid 30644] [evidence IEA]; Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones [goid 32353] [evidence IEA]; The process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate [goid 35249] [evidence IEA]; The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell [goid 42133] [evidence IEA]; The chemical reactions and pathways involving any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine [goid 42403] [evidence IEA]; Grouping of a set of receptors at a cellular location, often to amplify the sensitivity of a signaling response [goid 43113] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis in neurons [goid 43524] [evidence IEA]; A change in the behavior of an organism as a result of a pain stimulus. Pain stimuli cause activation of nociceptors, peripheral receptors for pain, include receptors which are sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli [goid 48266] [evidence IEA]; The release of a neurotransmitter into the synaptic cleft, where the release step is dependent on the presence of calcium ions (Ca2+). The neurotransmitter is contained within a membrane-bounded vesicle, and is released by fusion of the vesicle with the presynaptic plasma membrane of a nerve cell [goid 48791] [evidence IEA]; The process by which the anatomical structures of dendrite are generated and organized. Morphogenesis pertains to the creation of form. A dendrite is a freely branching protoplasmic process of a nerve cell [goid 48813] [evidence IEA]; Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron [goid 50770] [evidence IEA]; Involuntary movement caused by the application of a stimulus to an organism and a subsequent movement. The signal processing of this movement takes place in the spinal cord [goid 50883] [evidence IEA]; Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors [goid 50885] [evidence IEA]; The process in which membrane potential changes in the depolarizing direction from the resting potential, usually from negative to positive. For example, the initial depolarization during the rising phase of an action potential is in the direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential [goid 51899] [evidence IEA]; Any process involved in the generation of rhythmic, synchronous synaptic inputs in a neural circuit [goid 60024] [evidence IEA]" "Catalysis of the transmembrane transfer of a calcium ion by a voltage-gated channel [goid 5245] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 8692999] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11865310] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the transmembrane transfer of a calcium ion by a high voltage-gated channel [goid 8331] [evidence IEA]; Interacting selectively with a syntaxin, a SNAP receptor involved in the docking of synaptic vesicles at the presynaptic zone of a synapse [goid 19905] [pmid 8692999] [evidence IDA]" FHM; CAV2.1; CACNL1A4; SCA6; HPCA; MHP1; APCA; MHP; EA2 FHM; CAV2.1; CACNL1A4; SCA6; HPCA; MHP1; APCA; MHP; EA2 Ion channel -> Voltage-gated ion channel -> Voltage-gated calcium channel Transport -> Ion transport -> Cation transport;Neuronal activities -> Synaptic transmission -> Neurotransmitter release;Muscle contraction Homo sapiens RefSeq ILMN_13721 ILMN_21024 CACNA1A NM_000068.3 NM_000068.3 773 148536843 NM_000068.3 CACNA1A NP_000059.3 ILMN_1761851 3870390 A 7716 CTCCAGGAAGGGCCTGCACGAACCCTACAGCGAGAGTGACGATGATTGGT 19 - 13179131-13179180 19p13.13b-p13.13a "Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 1, mRNA." "Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 16595610] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16595610] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 16595610] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8825650] [evidence EXP]; A protein complex that forms a transmembrane channel through which calcium ions may pass in response to changes in membrane potential [goid 5891] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 16595610] [evidence TAS]; A branching protoplasmic process of a neuron that receive and integrate signals coming from axons of other neurons, and convey the resulting signal to the body of the cell [goid 30425] [evidence IEA]; A prolongation or process extending from a cell, e.g. a flagellum or axon [goid 42995] [pmid 16595610] [evidence IDA]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [evidence IEA]" "The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]; The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine [goid 96] [evidence IEA]; The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides [goid 6006] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]; Any process that increases the concentration of calcium ions in the cytosol [goid 7204] [evidence ISS]; The series of molecular signals generated by the binding of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, to a cell surface receptor [goid 7214] [evidence IEA]; The process of communication from a neuron to a muscle, across a synapse [goid 7274] [evidence IEA]; The biosynthesis of a synapse [goid 7416] [evidence IEA]; The actions or reactions of an adult relating to the progression of that organism along the ground by the process of lifting and setting down each leg [goid 7628] [evidence IEA]; The specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death [goid 8219] [pmid 16595610] [evidence IDA]; The regulated release of gamm-aminobutyric acid by a cell or group of cells. The gamma-aminobutyric acid is the principal inhibitory neurotransmitter in the brain but is also found in several extraneural tissues [goid 14051] [evidence IEA]; Any process that modulates the frequency, rate or extent of the regulated release of acetylcholine [goid 14056] [evidence IEA]; The process by which a cell irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present [goid 16049] [evidence IEA]; Any process that modulates the frequency, rate or extent of calcium ion-dependent exocytosis [goid 17158] [evidence IEA]; A developmental process, independent of morphogenetic (shape) change, that is required for the cerebellum to attain its fully functional state. The cerebellum is the portion of the brain in the back of the head between the cerebrum and the pons. The cerebellum controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills [goid 21590] [evidence IEA]; The process whose specific outcome is the progression of the cerebellar molecular layer nerve over time, from its formation to the mature structure. The molecular layer is the outermost layer of the cerebellar cortex. It contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells [goid 21679] [evidence IEA]; The process whose specific outcome is the progression of the cerebellar Purkinje cell layer over time, from its formation to the mature structure. The Purkinje cell layer lies just underneath the molecular layer of the cerebellar cortex. It contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer. Candelabrum interneurons are vertically oriented between the Purkinje cells. Purkinje neurons are inhibitory and provide the output of the cerebellar cortex through axons that project into the white matter. Extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells [goid 21680] [evidence IEA]; The process whereby neuroblasts acquire specialized structural and/or functional features that characterize the mature cerebellar Purkinje cell. Differentiation includes the processes involved in commitment of a neuroblast to a Purkinje cell fate. A Purkinje cell is an inhibitory GABAergic neuron found in the cerebellar cortex that projects to the deep cerebellar nuclei and brain stem [goid 21702] [evidence IEA]; The process whose specific outcome is the progression of the vestibular nucleus over time, from its formation to the mature structure [goid 21750] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a neuron whose cell body resides in the central nervous system [goid 21953] [evidence IEA]; The regulation of the levels, transport, and metabolism of chloride ions within a cell or between a cell and its external environment [goid 30644] [evidence IEA]; Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones [goid 32353] [evidence IEA]; The process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate [goid 35249] [evidence IEA]; The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell [goid 42133] [evidence IEA]; The chemical reactions and pathways involving any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine [goid 42403] [evidence IEA]; Grouping of a set of receptors at a cellular location, often to amplify the sensitivity of a signaling response [goid 43113] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis in neurons [goid 43524] [evidence IEA]; A change in the behavior of an organism as a result of a pain stimulus. Pain stimuli cause activation of nociceptors, peripheral receptors for pain, include receptors which are sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli [goid 48266] [evidence IEA]; The release of a neurotransmitter into the synaptic cleft, where the release step is dependent on the presence of calcium ions (Ca2+). The neurotransmitter is contained within a membrane-bounded vesicle, and is released by fusion of the vesicle with the presynaptic plasma membrane of a nerve cell [goid 48791] [evidence IEA]; The process by which the anatomical structures of dendrite are generated and organized. Morphogenesis pertains to the creation of form. A dendrite is a freely branching protoplasmic process of a nerve cell [goid 48813] [evidence IEA]; Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron [goid 50770] [evidence IEA]; Involuntary movement caused by the application of a stimulus to an organism and a subsequent movement. The signal processing of this movement takes place in the spinal cord [goid 50883] [evidence IEA]; Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors [goid 50885] [evidence IEA]; The process in which membrane potential changes in the depolarizing direction from the resting potential, usually from negative to positive. For example, the initial depolarization during the rising phase of an action potential is in the direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential [goid 51899] [evidence IEA]; Any process involved in the generation of rhythmic, synchronous synaptic inputs in a neural circuit [goid 60024] [evidence IEA]" "Catalysis of the transmembrane transfer of a calcium ion by a voltage-gated channel [goid 5245] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 8692999] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11865310] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the transmembrane transfer of a calcium ion by a high voltage-gated channel [goid 8331] [evidence IEA]; Interacting selectively with a syntaxin, a SNAP receptor involved in the docking of synaptic vesicles at the presynaptic zone of a synapse [goid 19905] [pmid 8692999] [evidence IDA]" FHM; CAV2.1; CACNL1A4; SCA6; HPCA; MHP1; APCA; MHP; EA2 FHM; CAV2.1; CACNL1A4; SCA6; HPCA; MHP1; APCA; MHP; EA2 Ion channel -> Voltage-gated ion channel -> Voltage-gated calcium channel Transport -> Ion transport -> Cation transport;Neuronal activities -> Synaptic transmission -> Neurotransmitter release;Muscle contraction Homo sapiens RefSeq ILMN_27541 ILMN_27541 CACNA1S NM_000069.1 NM_000069.1 779 4557400 NM_000069.1 CACNA1S NP_000060.1 ILMN_1667980 4210056 S 5846 GATGCCCACACAGCATCAGCATGGGCTTAGAGCTGGCATGACCAATGGGG 1 - 199275535-199275581:199275582-199275584 1q32.1b "Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA." "A protein complex that forms a transmembrane channel through which calcium ions may pass in response to changes in membrane potential [goid 5891] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A protein complex that forms a transmembrane channel through which calcium ions may pass in response to changes in membrane potential [goid 5891] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A fine reticular network of membrane-limited elements that pervades the sarcoplasm of a muscle fiber; continuous over large portions of the cell and with the nuclear envelope; that part of the endoplasmic reticulum specialized for calcium release, uptake and storage [goid 16529] [evidence IEA]; Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane [goid 30315] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11206130] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 11206130] [evidence IDA]; A protein complex that forms a transmembrane channel through which calcium ions may pass in response to changes in membrane potential [goid 5891] [pmid 9852570] [evidence IDA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane [goid 30315] [pmid 17204937] [evidence IDA]; A region of a sarcomere that appears as a light band on each side of the Z disc, comprising a region of the sarcomere where thin (actin) filaments are not overlapped by thick (myosin) filaments; contains actin, troponin, and tropomyosin; each sarcomere includes half of an I band at each end [goid 31674] [pmid 11206130] [evidence IDA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]; The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [evidence IEA]; The process whose specific outcome is the progression of the extraocular skeletal muscle over time, from its formation to the mature structure. The extraocular muscle is derived from cranial mesoderm and controls eye movements. The muscle begins its development with the differentiation of the muscle cells and ends with the mature muscle [goid 2074] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]; A process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope [goid 6941] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of the endoplasmic reticulum [goid 7029] [evidence IEA]; A process whereby non-proliferating myoblasts fuse to existing fibres or to myotubes to form new fibers. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers [goid 7520] [evidence IEA]; The process whose specific outcome is the progression of the neuromuscular junction over time, from its formation to the mature structure [goid 7528] [evidence IEA]; Any process by which skeletal muscle fibers change their phenotypic profiles in response to altered functional demands and a variety of signals [goid 43501] [evidence IEA]; The process whose specific outcome is the progression of a muscle cell over time, from its formation to the mature structure. Muscle cell development does not include the steps involved in committing an unspecified cell to the muscle cell fate [goid 55001] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [pmid 9852570] [evidence IDA]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 17418573] [evidence IMP]" Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of the transmembrane transfer of a calcium ion by a voltage-gated channel [goid 5245] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of the transmembrane transfer of a calcium ion by a voltage-gated channel [goid 5245] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the transmembrane transfer of a calcium ion by a high voltage-gated channel [goid 8331] [pmid 9852570] [evidence IDA]; [goid 15270] [pmid 9852570] [evidence IDA] CCHL1A3; CACNL1A3; hypoPP; MHS5; HOKPP CCHL1A3; CACNL1A3; hypoPP; MHS5; HOKPP Synthase and synthetase -> Synthase;Lyase Amino acid metabolism -> Amino acid biosynthesis Homo sapiens RefSeq ILMN_5029 ILMN_5029 CBS NM_000071.1 NM_000071.1 875 4557414 NM_000071.1 CBS NP_000062.1 ILMN_1804735 1230047 S 2420 CTCCCGTCTTCCTCCTCCCCTGGCAACTGCTGATCGACTTTGTGTCTCTG 21 - 43346416-43346465 21q22.3c "Homo sapiens cystathionine-beta-synthase (CBS), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16780588] [evidence IDA]" "The chemical reactions and pathways resulting in the formation of cysteine from other compounds, including serine [goid 6535] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents [goid 8652] [evidence IEA]; The chemical reactions and pathways resulting in the formation of cysteine, via the intermediate cystathionine [goid 19343] [evidence IEA]" "Catalysis of the reaction: L-serine + L-homocysteine = cystathionine + H2O [goid 4122] [pmid 9590298] [evidence TAS]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" HIP4 HIP4 Receptor -> Other receptor Cell adhesion;Transport Homo sapiens RefSeq ILMN_22014 ILMN_22242 CD36 NM_000072.2 NM_000072.2 948 48375177 NM_000072.2 CD36 NP_000063.2 ILMN_1796094 3310538 A 1520 GTGCCTATTCTTTGGCTTAATGAGACTGGGACCATTGGTGATGAGAAGGC 7 + 80140638-80140661:80141235-80141260 7q21.11c "Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 3, mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 2468669] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 7693034] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 1715582] [evidence EXP]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2468669] [evidence TAS]; The lipid bilayer surrounding the platelet alpha granule [goid 31092] [pmid 7693034] [evidence EXP]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 7518447] [evidence NAS]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 2468670] [evidence TAS]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 2468670] [evidence TAS]; The directed movement of any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids, into, out of, within or between cells [goid 42953] [pmid 9568716] [evidence TAS]; The recognition and removal of an apoptotic cell by a neighboring cell or by a phagocyte [goid 43277] [evidence IEA]" "Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with a low-density lipoprotein to initiate a change in cell activity [goid 5041] [pmid 9568716] [evidence TAS]; Interacting selectively with any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 8034] [pmid 9568716] [evidence IDA]" GPIV; FAT; GP3B; CHDS7; SCARB3; PASIV; GP4 GPIV; FAT; GP3B; CHDS7; SCARB3; PASIV; GP4 Receptor -> Immunoglobulin receptor family member;Defense/immunity protein -> Immunoglobulin receptor family member Signal transduction -> Cell surface receptor mediated signal transduction;Signal transduction -> Cell communication;Immunity and defense -> T-cell mediated immunity Homo sapiens RefSeq ILMN_22057 ILMN_22057 CD3G NM_000073.1 NM_000073.1 917 4557428 NM_000073.1 CD3G NP_000064.1 ILMN_1717197 1090474 S 508 CCAGCTCTACCAGCCCCTCAAGGATCGAGAAGATGACCAGTACAGCCACC 11 + 117727583-117727596:117728329-117728364 11q23.3d "Homo sapiens CD3g molecule, gamma (CD3-TCR complex) (CD3G), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein [goid 42105] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 17652306] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 15489916] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 11827988] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 11048639] [evidence EXP]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9485181] [evidence NAS]; A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains [goid 42101] [pmid 9485181] [evidence NAS]" "Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [evidence IEA]; The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 12794121] [evidence NAS]; Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns [goid 7163] [pmid 12407027] [evidence IMP]; Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [pmid 12407027] [evidence IMP]; The directed movement of proteins into, out of, within or between cells [goid 15031] [pmid 12794121] [evidence IMP]; The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific [goid 42110] [pmid 12407027] [evidence NAS]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [pmid 12407027] [evidence IMP]" "Combining with an extracellular or intracellular messenger to initiate a change in cell activity, and spanning to the membrane of either the cell or an organelle [goid 4888] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity, and spanning to the membrane of either the cell or an organelle [goid 4888] [pmid 12794121] [evidence IMP]; Functions to provide a physical support for the assembly of a multiprotein receptor signaling complex [goid 30159] [pmid 12794121] [evidence NAS]; Interacting selectively with a T cell receptor, the antigen-recognizing receptor on the surface of T cells [goid 42608] [pmid 11186279] [evidence NAS]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 9485181] [evidence IPI]" MGC138597; CD3-GAMMA; T3G MGC138597; CD3-GAMMA; T3G Signaling molecule -> Cytokine Signal transduction -> Cell communication -> Ligand-mediated signaling;Immunity and defense -> B-cell- and antibody-mediated immunity Homo sapiens RefSeq ILMN_2685 ILMN_2685 CD40LG NM_000074.2 NM_000074.2 959 58331233 NM_000074.2 CD40LG NP_000065.1 ILMN_1659077 50706 S 1652 CTACCACTATAGATGAGGGTGAGGAGTAGGGAGTGCAGCCCTGAGCCTGC X + 135570034-135570083 Xq26.3b "Homo sapiens CD40 ligand (CD40LG), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [pmid 12646674] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 16893496] [evidence EXP]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7678552] [evidence TAS]" "A process which directly inhibits any of the steps required for cell death by apoptosis [goid 6916] [pmid 12697681] [evidence IDA]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 9468137] [evidence IDA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The attachment of a leukocyte to another cell via adhesion molecules [goid 7159] [pmid 9468137] [evidence NAS]; A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug [goid 30168] [pmid 9468137] [evidence IDA]; The process whereby a precursor cell type acquires the specialized features of a B cell [goid 30183] [evidence IEA]; Any process that activates or increases the frequency, rate, or extent of interleukin-12 production [goid 32735] [pmid 9922218] [evidence IDA]; The expansion of a B cell population by cell division. Follows B cell activation [goid 42100] [pmid 8605945] [evidence IDA]; The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus [goid 45190] [evidence ISS]; Any process that modulates the frequency, rate or extent of the regulated release of immunoglobulins from a cell or group of cells [goid 51023] [evidence IEA]" "Functions to control the survival, growth, differentiation and effector function of tissues and cells [goid 5125] [evidence IEA]; Interacting selectively with the tumor necrosis factor receptor [goid 5164] [evidence IEA]; Interacting selectively with CD40, a receptor found on the surface of all B-lymphocytes [goid 5174] [pmid 9468137] [evidence IPI]" TRAP; IMD3; CD40L; IGM; TNFSF5; HIGM1; CD154; gp39; hCD40L; T-BAM CD154; TRAP; gp39; IMD3; CD40L; IGM; hCD40L; TNFSF5; HIGM1; T-BAM Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Cell cycle -> Cell cycle control;Cell cycle -> Mitosis Homo sapiens RefSeq ILMN_2567 ILMN_2567 CDK4 NM_000075.2 NM_000075.2 1019 16936531 NM_000075.2 CDK4 NP_000066.1 ILMN_1689001 7380110 S 1189 GGACACTGAGAGGGCAATCTTTGCCTTTATCTCTGAGGCTATGGAGGGTC 12 - 56428474-56428523 12q14.1a "Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA." "Cyclin-dependent protein kinases (CDKs) are heterodimeric enzymes that contain a kinase catalytic subunit associated with a regulatory cyclin partner [goid 307] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 16109376] [evidence IDA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9190208] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 16782892] [evidence EXP]; Any complex, distinct from RNA polymerase, including one or more polypeptides capable of binding DNA at promoters or at cis-acting regulatory sequences, and regulating transcription [goid 5667] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9106657] [evidence EXP]" "The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; Progression from G1 phase to S phase of the mitotic cell cycle [goid 82] [pmid 7603984] [evidence IMP]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Some protein processing events may be included when they are required to form an active form of a product from an inactive precursor form [goid 10468] [pmid 17420273] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells [goid 48146] [pmid 17420273] [evidence IMP]; The process resulting in the physical partitioning and separation of a cell into daughter cells [goid 51301] [evidence IEA]; Any process that modulates the rate or extent of progression through the cell cycle [goid 51726] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP [goid 4672] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein; dependent on the binding of a regulatory cyclin subunit and full activity requires stimulatory phosphorylation by a CDK-activating kinase (CAK) [goid 4693] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9106657] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11896535] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15232106] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16169070] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17274640] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17909018] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17274640] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15558030] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" PSK-J3; CMM3; MGC14458 PSK-J3; CMM3; MGC14458 Select regulatory molecule -> Kinase modulator -> Kinase inhibitor Cell cycle -> Cell cycle control;Cell proliferation and differentiation;Oncogenesis -> Tumor suppressor Homo sapiens RefSeq ILMN_20689 ILMN_20689 CDKN1C NM_000076.1 NM_000076.1 1028 4557440 NM_000076.1 CDKN1C NP_000067.1 ILMN_1718565 5890653 S 1197 AAGAGGCTGCGGTGAGCCAATTTAGAGCCCAAAGAGCCCCGAGGGAACCT 11 - 2861687-2861721:2861805-2861809:2861810-2861819 11p15.4d "Homo sapiens cyclin-dependent kinase inhibitor 1C (p57, Kip2) (CDKN1C), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16943770] [evidence IDA]" "Any process that stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 122] [evidence IEA]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [evidence IEA]; A developmental process, independent of morphogenetic (shape) change, that is required for a neuron to attain its fully functional state [goid 42551] [evidence IEA]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [evidence IEA]; Any process that modulates the frequency, rate or extent of CDK activity [goid 79] [pmid 7729684] [evidence TAS]; Progression through G1 phase, one of two 'gap' phases in the mitotic cell cycle; G1 is the interval between the completion of mitosis and the beginning of DNA synthesis [goid 80] [pmid 7729684] [evidence TAS]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [pmid 7729684] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of TGF-beta receptor signaling pathway activity [goid 30511] [pmid 16943770] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation [goid 50680] [pmid 16943770] [evidence IMP]" "Stops, prevents or reduces the activity of a cyclin-dependent protein kinase [goid 4861] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Stops, prevents or reduces the activity of a cyclin-dependent protein kinase [goid 4861] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Functions in the storage of nutritious substrates [goid 45735] [evidence IEA]; Stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein [goid 4860] [evidence IEA]; Stops, prevents or reduces the activity of a cyclin-dependent protein kinase [goid 4861] [pmid 7729684] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9106657] [evidence IPI]" BWCR; p57; BWS; KIP2; WBS BWCR; p57; BWS; KIP2; WBS Select regulatory molecule -> Kinase modulator -> Kinase inhibitor Cell cycle -> Cell cycle control;Oncogenesis -> Tumor suppressor Homo sapiens RefSeq ILMN_30355 ILMN_25302 CDKN2A NM_000077.3 NM_000077.3 1029 47132606 NM_000077.3 CDKN2A NP_000068.1 ILMN_1717714 6620014 A 754 CAACTGCCCCCGCCACAACCCACCCCGCTTTCGTAGTTTTCATTTAGAAA 9 - 21958107-21958156 9p21.3c "Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 17110379] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 17110379] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 16243918] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16243918] [evidence IDA]" "The cleavage of DNA during apoptosis, which usually occurs in two stages: cleavage into fragments of about 50 kbp followed by cleavage between nucleosomes to yield 200 bp fragments [goid 6309] [pmid 12082630] [evidence IMP]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules [goid 6364] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of protein kinase activity [goid 6469] [pmid 15582998] [evidence IMP]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [pmid 12082630] [evidence IMP]; Upregulation of the activity of a caspase, any of a group of cysteine proteases involved in apoptosis [goid 6919] [pmid 12082630] [evidence IMP]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [pmid 15582998] [evidence IMP]; The morphological and physiological alterations undergone by mitochondria during apoptosis [goid 8637] [pmid 12082630] [evidence IMP]; A preprogrammed process that occurs in an organism that is associated with the dismantling of an anatomical structure and an overall decline in metabolism. This may include the breakdown of organelles, membranes and other cellular components [goid 10149] [pmid 14966292] [evidence IMP]; Any process that modulates the rate or extent of progression from G2 phase to M phase of the mitotic cell cycle [goid 10389] [pmid 15582998] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of B cell proliferation [goid 30889] [evidence ISS]; Any process that affects the structure and integrity of a protein by altering the likelihood of its degradation or aggregation [goid 31647] [evidence ISS]; Any process that stops, prevents or reduces the frequency, rate or extent of immature T cell proliferation in the thymus [goid 33088] [evidence ISS]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line [goid 48103] [evidence ISS]; Any process that stops, prevents or reduces the frequency, rate or extent of ubiquitin ligase activity, the catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 51444] [evidence ISS]; A point in the eukaryotic cell cycle where progress through the cycle can be halted until conditions are suitable for the cell to proceed to the next stage [goid 75] [pmid 16243918] [evidence IMP]; Progression from G1 phase to S phase of the mitotic cell cycle [goid 82] [pmid 10208428] [evidence IDA]; Any process that stops, prevents or reduces the rate or extent of cell adhesion to the extracellular matrix [goid 1953] [pmid 10205165] [evidence IMP]; A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [pmid 10208428] [evidence IDA]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [pmid 16243918] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 16243918] [evidence IMP]; A preprogrammed process that occurs in an organism that is associated with the dismantling of an anatomical structure and an overall decline in metabolism. This may include the breakdown of organelles, membranes and other cellular components [goid 10149] [pmid 14720514] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of cell growth [goid 30308] [pmid 10208428] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB [goid 32088] [pmid 10353611] [evidence IDA]; Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule [goid 42326] [pmid 8259215] [evidence IDA]; Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule [goid 42326] [pmid 10208428] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of CDK activity [goid 45736] [pmid 8259215] [evidence IDA]" "Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17909018] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15989956] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17274640] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12740913] [evidence IPI]; Stops, prevents or reduces the activity of a ubiquitin-protein ligase [goid 55105] [evidence ISS]; Stops, prevents or reduces the activity of a cyclin-dependent protein kinase [goid 4861] [pmid 8259215] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11278317] [evidence IPI]; Interacting selectively with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate [goid 19901] [pmid 8259215] [evidence IPI]; Interacting selectively with NF-kappaB, a transcription factor for eukaryotic RNA polymerase II promoters [goid 51059] [pmid 10353611] [evidence IDA]" p14ARF; TP16; p16; CDKN2; MTS1; INK4a; CMM2; MLM; ARF; p16INK4a; INK4; p14; p19; p16INK4; CDK4I p14ARF; TP16; p16; CDKN2; MTS1; INK4a; CMM2; MLM; ARF; p16INK4a; INK4; p14; p19; p16INK4; CDK4I Transfer/carrier protein -> Other transfer/carrier protein Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport;Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Cholesterol metabolism Homo sapiens RefSeq ILMN_162224 ILMN_162224 CETP NM_000078.1 NM_000078.1 1071 4557442 NM_000078.1 CETP NP_000069.1 ILMN_2098013 7510079 S 1733 TGGCTCCCAACTCCTCCCTATCCTAAAGGCCCACTGGCATTAAAGTGCTG 16 + 55575200-55575249 16q13b "Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 3104518] [evidence IDA]; Any small, fluid-filled, spherical organelle enclosed by membrane or protein [goid 31982] [pmid 2833496] [evidence IDA]; A lipoprotein particle with a high density (typically 1.063-1.21 g/ml) and a diameter of 5-10 nm that contains APOAs and may contain APOCs and APOE; found in blood and carries lipids from body tissues to the liver as part of the reverse cholesterol transport process [goid 34364] [evidence IEA]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways involving triacylglycerol, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triacylglycerols are important components of plant oils, animal fats and animal plasma lipoproteins [goid 6641] [pmid 2833496] [evidence IDA]; The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus [goid 8202] [evidence IEA]; The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues [goid 8203] [evidence IEA]; The directed movement of phospholipids into, out of, within or between cells. Phospholipids are any lipids containing phosphoric acid as a mono- or diester [goid 15914] [pmid 2833496] [evidence IDA]; The acquisition, loss or modification of a protein or lipid within a very-low-density lipoprotein particle, including the hydrolysis of triglyceride by hepatic lipase or lipoprotein lipase and the subsequent loss of free fatty acid [goid 34372] [pmid 2833496] [evidence IDA]; The acquisition, loss or modification of a protein or lipid within a low-density lipoprotein particle, including the hydrolysis of triglyceride by hepatic lipase, with the subsequent loss of free fatty acid, and the transfer of cholesterol esters from LDL to a triglyceride-rich lipoprotein particle by cholesteryl ester transfer protein (CETP), with the simultaneous transfer of triglyceride to LDL [goid 34374] [pmid 2833496] [evidence IDA]; The acquisition, loss or modification of a protein or lipid within a high-density lipoprotein particle, including the hydrolysis of triglyceride by hepatic lipase, with the subsequent loss of free fatty acid, and the transfer of cholesterol esters from LDL to a triglyceride-rich lipoprotein particle by cholesteryl ester transfer protein (CETP), with the simultaneous transfer of triglyceride to LDL [goid 34375] [pmid 2586614] [evidence IMP]; Any process involved in the maintenance of an internal equilibrium of cholesterol within an organism or cell [goid 42632] [pmid 2586614] [evidence IMP]; The directed movement of periperal cell cholesterol, cholest-5-en-3-beta-ol, towards the liver for catabolism [goid 43691] [evidence IEA]; The chemical reactions and pathways involving phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline. They are important constituents of cell membranes [goid 46470] [pmid 2833496] [evidence IDA]; Any process involved in the maintenance of an internal equilibrium of acylglycerol within an organism or cell [goid 55090] [pmid 2833496] [evidence IDA]; Any process involved in the maintenance of an internal equilibrium of phospholipid within an organism or cell [goid 55091] [pmid 2833496] [evidence IDA]" "Enables the directed movement of phospholipids into, out of, within or between cells. Phospholipids are a class of lipids containing phosphoric acid as a mono- or diester [goid 5548] [pmid 2833496] [evidence IDA]; Interacting selectively with cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 15485] [pmid 2833496] [evidence IDA]; Enables the directed movement of cholesterol into, out of, within or between cells. Cholesterol is the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 17127] [evidence IEA]; Interacting selectively with any triester of glycerol [goid 17129] [pmid 2833496] [evidence IDA]; Interacting selectively with phosphatidylcholine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of choline [goid 31210] [pmid 2833496] [evidence IDA]" HDLCQ10 HDLCQ10 Receptor -> Ligand-gated ion channel -> Acetylcholine receptor;Ion channel -> Ligand-gated ion channel -> Acetylcholine receptor Signal transduction -> Cell communication;Transport -> Ion transport -> Cation transport;Neuronal activities -> Synaptic transmission -> Neuromuscular synaptic transmission;Muscle contraction Homo sapiens RefSeq ILMN_137786 ILMN_44443 CHRNA1 NM_000079.2 NM_000079.2 1134 87567780 NM_000079.2 CHRNA1 NP_000070.1 ILMN_1798700 4120717 S 1349 CCTCGGAGTCTTCATGCTTGTTTGCATCATCGGAACCCTAGCCGTGTTTG 2 - 175321132-175321181 2q31.1g "Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 2, mRNA." "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; A protein complex that acts as an acetylcholine receptor, and forms a transmembrane channel through which ions may pass in response to ligand binding. The complex is a homo- or heteropentamer of subunits that are members of a neurotransmitter receptor superfamily [goid 5892] [evidence IEA]; A protein complex that acts as an acetylcholine receptor, and forms a transmembrane channel through which ions may pass in response to ligand binding. The complex is a homo- or heteropentamer of subunits that are members of a neurotransmitter receptor superfamily [goid 5892] [pmid 7619526] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a post-synaptic potential responsible of the muscle contraction [goid 31594] [evidence IEA]; The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a post-synaptic potential responsible of the muscle contraction [goid 31594] [pmid 9221765] [evidence IDA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 7619526] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 7619526] [evidence TAS]; The process of communication from a neuron to a muscle, across a synapse [goid 7274] [pmid 9221765] [evidence IMP]; The process whose specific outcome is the progression of the neuromuscular junction over time, from its formation to the mature structure [goid 7528] [pmid 9221765] [evidence IMP]; Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane [goid 42391] [evidence IEA]; Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane [goid 42391] [pmid 9221765] [evidence IMP]" " [goid 4889] [evidence IEA]; [goid 4889] [pmid 9221765] [evidence IMP]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [pmid 6688857] [evidence TAS]; Catalysis of the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts [goid 5230] [evidence IEA]; Combining with acetylcholine to initiate a change in cell activity [goid 15464] [pmid 7619526] [evidence TAS]; Interacting selectively with acetylcholine, an acetic acid ester of the organic base choline that functions as a neurotransmitter, released at the synapses of parasympathetic nerves and at neuromuscular junctions [goid 42166] [evidence IEA]" FCCMS; ACHRA; ACHRD; CHRNA; CMS2A; SCCMS FCCMS; ACHRA; ACHRD; CHRNA; CMS2A; SCCMS Receptor -> Ligand-gated ion channel -> Acetylcholine receptor;Ion channel -> Ligand-gated ion channel -> Acetylcholine receptor;Transporter -> Cation transporter Signal transduction -> Cell communication;Transport -> Ion transport -> Cation transport;Neuronal activities -> Synaptic transmission -> Neuromuscular synaptic transmission;Muscle contraction Homo sapiens RefSeq ILMN_20949 ILMN_20949 CHRNE NM_000080.2 NM_000080.2 1145 38327653 NM_000080.2 CHRNE NP_000071.1 ILMN_1703346 5260451 S 2064 ACTCATTGCAGATCCCAGCCCACCCTGCCCCTTTCTTCCCCACCCTGGAG 17 - 4742189-4742238 17p13.2b "Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA." "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; A protein complex that acts as an acetylcholine receptor, and forms a transmembrane channel through which ions may pass in response to ligand binding. The complex is a homo- or heteropentamer of subunits that are members of a neurotransmitter receptor superfamily [goid 5892] [pmid 7531341] [evidence TAS]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 8872460] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8872460] [evidence TAS]; The process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine [goid 7271] [pmid 8872460] [evidence TAS]; Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane [goid 42391] [evidence IEA]" [goid 4889] [pmid 7531341] [evidence TAS]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts [goid 5230] [evidence IEA]; Catalysis of the transfer of cation from one side of the membrane to the other [goid 8324] [pmid 8872460] [evidence TAS]; Combining with acetylcholine to initiate a change in cell activity [goid 15464] [pmid 8872460] [evidence TAS] FCCMS; ACHRE; CMS1E; CMS1D; CMS2A; SCCMS ACHRE; FCCMS; CMS1E; CMS1D; CMS2A; SCCMS Select regulatory molecule Signal transduction;Protein targeting and localization -> Protein targeting Homo sapiens RefSeq ILMN_22965 ILMN_22965 LYST NM_000081.2 NM_000081.2 1130 54292122 NM_000081.2 LYST NP_000072.2 ILMN_1675956 610601 I 12931 TCCAAAGTCTCTGCTGTCAAGATAGATTCGAGAGAAAGCACGTGGCCATG 1 - 233891463-233891512 1q42.3c "Homo sapiens lysosomal trafficking regulator (LYST), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins [goid 15630] [pmid 9606205] [evidence IDA]" "A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases [goid 7040] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The movement of a leukocyte in response to an external stimulus [goid 30595] [evidence ISS]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a melanosome. A melanosome is a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored [goid 32438] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a melanosome. A melanosome is a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored [goid 32438] [evidence ISS]; The directed movement of substances from endosomes to lysosomes by a pathway in which molecules are sorted into multivesicular bodies, which then fuse with the lysosome [goid 32510] [pmid 9606205] [evidence IMP]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a secretory granule in a mast cell. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion [goid 33364] [evidence ISS]; The directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors [goid 42267] [pmid 10648412] [evidence IMP]; The directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors [goid 42267] [pmid 6154765] [evidence IMP]; Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism [goid 42742] [evidence ISS]; Reactions triggered in response to the presence of a protozoan that act to protect the cell or organism [goid 42832] [evidence ISS]; The deposition or aggregation of coloring matter in an organism, tissue or cell [goid 43473] [evidence IEA]; The deposition or aggregation of coloring matter in an organism, tissue or cell [goid 43473] [pmid 10648412] [evidence IMP]; Reactions triggered in response to the presence of a virus that act to protect the cell or organism [goid 51607] [evidence ISS]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11984006] [evidence IPI] CHS; CHS1 CHS1; CHS Select regulatory molecule Signal transduction;Protein targeting and localization -> Protein targeting Homo sapiens RefSeq ILMN_12138 ILMN_22965 LYST NM_000081.2 NM_000081.2 1130 54292122 NM_000081.2 LYST NP_000072.2 ILMN_1669031 4150008 A 6795 TGGGAGCAGAACCCAGGTCAGAAGATGACAGTCCTGGGGATGAGTCCTGC 1 - 233989106-233989155 1q42.3c "Homo sapiens lysosomal trafficking regulator (LYST), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins [goid 15630] [pmid 9606205] [evidence IDA]" "A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases [goid 7040] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The movement of a leukocyte in response to an external stimulus [goid 30595] [evidence ISS]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a melanosome. A melanosome is a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored [goid 32438] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a melanosome. A melanosome is a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored [goid 32438] [evidence ISS]; The directed movement of substances from endosomes to lysosomes by a pathway in which molecules are sorted into multivesicular bodies, which then fuse with the lysosome [goid 32510] [pmid 9606205] [evidence IMP]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a secretory granule in a mast cell. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion [goid 33364] [evidence ISS]; The directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors [goid 42267] [pmid 10648412] [evidence IMP]; The directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors [goid 42267] [pmid 6154765] [evidence IMP]; Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism [goid 42742] [evidence ISS]; Reactions triggered in response to the presence of a protozoan that act to protect the cell or organism [goid 42832] [evidence ISS]; The deposition or aggregation of coloring matter in an organism, tissue or cell [goid 43473] [evidence IEA]; The deposition or aggregation of coloring matter in an organism, tissue or cell [goid 43473] [pmid 10648412] [evidence IMP]; Reactions triggered in response to the presence of a virus that act to protect the cell or organism [goid 51607] [evidence ISS]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11984006] [evidence IPI] CHS; CHS1 CHS1; CHS Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_4976 ILMN_4976 ERCC8 NM_000082.2 NM_000082.2 1161 55956771 NM_000082.2 ERCC8 NP_000073.1 ILMN_2348146 6400209 A 504 TCTCCAGTCTCCACCAAGCACTGTTTGGTAGCAGTTGGTACTAGAGGACC 5 - 60235284-60235300:60236376-60236408 5q12.1b "Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 8 (ERCC8), transcript variant 1, mRNA." "Any complex formed of proteins that act in nucleotide-excision repair [goid 109] [pmid 12732143] [evidence IDA]; That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [pmid 16916636] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 11782547] [evidence IDA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11313499] [evidence EXP]; The dense fibrillar network lying on the inner side of the nuclear membrane [goid 16363] [pmid 11782547] [evidence IDA]" "Addition of multiple ubiquitin moieties to a protein, forming a ubiquitin chain [goid 209] [pmid 12732143] [evidence IDA]; The preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the general nucleotide excision repair pathway [goid 6283] [pmid 16916636] [evidence IMP]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism [goid 6974] [pmid 11782547] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [pmid 17297471] [evidence IMP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [pmid 11782547] [evidence IDA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers [goid 9411] [pmid 7664335] [evidence IMP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers [goid 9411] [pmid 12732143] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz) [goid 10165] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of DNA repair [goid 45739] [pmid 7664335] [evidence IMP]; The ubiquitination by a protein of one or more of its own amino acid residues, or residues on an identical protein. Ubiquitination occurs on the lysine residue by formation of an isopeptide crosslink [goid 51865] [pmid 12732143] [evidence IDA]" Catalysis of the reaction: NTP + H2O = NDP + phosphate to drive the unwinding of a DNA helix [goid 3678] [pmid 8999876] [evidence IDA]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [pmid 12732143] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 7664335] [evidence IPI]; Catalysis of the reaction: ATP + H2O = ADP + phosphate in the presence of single- or double-stranded DNA; drives another reaction [goid 8094] [pmid 8999876] [evidence IDA]; Interacting selectively with any protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 32403] [pmid 16916636] [evidence IDA] CSA; CKN1 CSA; CKN1 Ion channel -> Anion channel Transport -> Ion transport -> Anion transport Homo sapiens RefSeq ILMN_21745 ILMN_173909 CLCN1 NM_000083.2 NM_000083.2 1180 119433676 NM_000083.2 CLCN1 NP_000074.2 ILMN_1686865 460370 S 2848 GATGTGATTGCTGCCTCCCCAGAGACCCCTGTGCCATCTCCTTCCCCAGA 7 + 142758974-142759023 7q34f "Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA." "Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9122265] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 1379744] [evidence TAS]" Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of the transmembrane transfer of a chloride ion by a voltage-gated channel [goid 5247] [pmid 9122265] [evidence TAS]; Interacting selectively with chloride ions (Cl-) [goid 31404] [evidence IEA] MGC138361; MGC142055; CLC1 MGC138361; MGC142055; CLC1 Ion channel -> Anion channel Transport -> Ion transport -> Anion transport Homo sapiens RefSeq ILMN_1401 ILMN_1401 CLCN5 NM_000084.2 NM_000084.2 1184 116734718 NM_000084.2 CLCN5 NP_000075.1 ILMN_1690327 5090746 S 2269 CACCCACTCTAAAGCTTCGGAACATCCTCGATCTCAGCCCCTTCACTGTG X + 49742154-49742203 Xp11.22c "Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA." "The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]; A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8559248] [evidence TAS]; The lipid bilayer surrounding an endosome [goid 10008] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]; A type of vesicle-mediated transport in which cells take up external materials or membrane constituents by the invagination of small region of the plasma membrane to form a new membrane-bounded vesicle [goid 6897] [evidence IEA]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 8559248] [evidence TAS]" Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of the transmembrane transfer of a chloride ion by a voltage-gated channel [goid 5247] [evidence IEA]; Interacting selectively with chloride ions (Cl-) [goid 31404] [evidence IEA] NPHL2; CLC5; hCIC-K2; CLCK2; DENTS; hClC-K2; XLRH; XRN; NPHL1 NPHL2; CLCK2; DENTS; XLRH; NPHL1; CLC5; hCIC-K2; hClC-K2; XRN Ion channel -> Anion channel Transport -> Ion transport -> Anion transport Homo sapiens RefSeq ILMN_26265 ILMN_26265 CLCNKB NM_000085.1 NM_000085.1 1188 4557474 NM_000085.1 CLCNKB NP_000076.1 ILMN_1798742 70333 S 1930 CCTGAAGCTGTCCCCAGAGACTTCCCTGCATGAGGCACACAACCTCTTTG 1 + 16254810-16254840:16255504-16255522 1p36.13f "Homo sapiens chloride channel Kb (CLCNKB), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8041726] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 9326936] [evidence TAS]" Catalysis of the transmembrane transfer of a chloride ion by a voltage-gated channel [goid 5247] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of a chloride ion by a voltage-gated channel [goid 5247] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of a chloride ion by a voltage-gated channel [goid 5247] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of the transmembrane transfer of a chloride ion by a voltage-gated channel [goid 5247] [pmid 8041726] [evidence TAS]; Interacting selectively with chloride ions (Cl-) [goid 31404] [evidence IEA] hClC-Kb; CLCKB; MGC24087; ClC-K2 hClC-Kb; CLCKB; MGC24087; ClC-K2 Membrane traffic protein -> Membrane traffic regulatory protein Intracellular protein traffic -> Lysosome transport;Neuronal activities -> Other neuronal activity Homo sapiens RefSeq ILMN_24228 ILMN_24228 CLN3 NM_000086.2 NM_000086.2 1201 109698602 NM_000086.2 CLN3 NP_000077.1 ILMN_2394381 6580682 A 1683 AGAGGGACAGGTCAGACACCCAGGCCCACCCCAGAGACCCTCCATGAACT 16 - 28396245-28396294 16p11.2e "Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [pmid 10191111] [evidence IDA]; The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [pmid 9949212] [evidence IDA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 12134079] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10191116] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10191116] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 8980123] [evidence TAS]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]; The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm [goid 5765] [evidence IEA]; Small irregularly shaped intracellular vesicles to which endocytosed molecules are initially delivered [goid 5769] [evidence IEA]; Small irregularly shaped intracellular vesicles to which endocytosed molecules are initially delivered [goid 5769] [pmid 15240864] [evidence IDA]; A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center [goid 5770] [evidence IEA]; A double-membrane-bounded vesicle in which endogenous cellular material is sequestered; known as autophagosome in yeast [goid 5776] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 10191111] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 15240864] [evidence IDA]; The set of thin, flattened membrane-bounded compartments, called cisternae, that form the central portion of the Golgi complex. The stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack [goid 5795] [pmid 15240864] [evidence IDA]; The network of interconnected tubular and cisternal structures located at the side of the Golgi apparatus distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination [goid 5802] [pmid 15240864] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 15240864] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10191116] [evidence IDA]; A small pit, depression, or invagination, such as any of the minute pits or incuppings of the cell membrane formed during pinocytosis, that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Such caveolae may be pinched off to form free vesicles within the cytoplasm [goid 5901] [pmid 15240864] [evidence IDA]; Secretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane [goid 8021] [pmid 11590129] [evidence IDA]; Secretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane [goid 8021] [pmid 10332042] [evidence IDA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 10191112] [evidence IDA]; Penetrating at least one phospholipid bilayer of an endoplasmic reticulum membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 30176] [pmid 12706816] [evidence IDA]; A prolongation or process extending from a nerve cell, e.g. an axon or dendrite [goid 43005] [pmid 10332042] [evidence IDA]; Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 44433] [evidence IEA]" "The fusion of an autophagic vacuole with a vacuole (yeast) or lysosome (e.g. mammals and insects). In the case of yeast, inner membrane-bounded structures (autophagic bodies) appear in the vacuole [goid 46] [evidence IEA]; Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. An action potential is a spike of membrane depolarization and repolarization that travels along the membrane of a cell [goid 1508] [evidence IEA]; The chemical reactions and pathways involving globosides, globotetraosylceramides, ceramides containing a core structure of GalNAc-beta-(1,3)-Gal-alpha(1,4)Glc(I). Globosides are the major neutral glycosphingolipid in normal kidneys and erythrocytes [goid 1575] [pmid 15240864] [evidence IMP]; The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure [goid 6457] [pmid 8980123] [evidence TAS]; The chemical reactions and pathways involving amino acids, organic acids containing one or more amino substituents [goid 6520] [evidence IEA]; The chemical reactions and pathways involving glucosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of glucose by a ceramide group. They are neutral glycolipids containing equimolar amounts of fatty acid, glucose, and sphingosine or a sphingosine derivative [goid 6678] [pmid 15240864] [evidence IMP]; The chemical reactions and pathways involving galactosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of galactose by a ceramide group [goid 6681] [pmid 15240864] [evidence IMP]; The chemical reactions and pathways involving sphingomyelin, N-acyl-4-sphingenyl-1-O-phosphorylcholine, any of a class of phospholipids in which the amino group of sphingosine is in amide linkage with one of several fatty acids, while the terminal hydroxyl group of sphingosine is esterified to phosphorylcholine [goid 6684] [pmid 15240864] [evidence IMP]; The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of, within or between cells [goid 6865] [evidence IEA]; The uptake of external materials by cells, utilizing receptors to ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles [goid 6898] [pmid 15471887] [evidence IMP]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases [goid 7040] [evidence IEA]; Any process that reduces the pH of the lysosomal lumen, measured by the concentration of the hydrogen ion [goid 7042] [pmid 11722572] [evidence IMP]; Learning by associating a stimulus (the cause) with a particular outcome (the effect) [goid 8306] [evidence IEA]; The directed movement of arginine, 2-amino-5-guanidinopentanoic acid, into, out of, within or between cells [goid 15809] [pmid 16251196] [evidence IDA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16044] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of macroautophagy [goid 16242] [evidence IEA]; The posttranslational modification of a protein, particularly secretory proteins and proteins targeted for membranes or specific cellular locations [goid 16485] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds [goid 30163] [pmid 10740217] [evidence NAS]; The series of molecular signals generated as a consequence of glutamate binding to a cell surface receptor, followed by the movement of ions through a channel in the receptor complex [goid 35235] [evidence IEA]; The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell [goid 42133] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of amyloid precursor protein (APP), the precursor of beta-amyloid, a glycoprotein associated with Alzheimer's disease [goid 42987] [pmid 10924275] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis in neurons [goid 43524] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein [goid 45861] [evidence IEA]; Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors [goid 50885] [evidence IEA]; Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion [goid 51453] [pmid 10924275] [evidence IDA]; The regulation of the levels, transport, and metabolism of calcium ions within the cytosol of a cell or between the cytosol and its surroundings [goid 51480] [evidence IEA]" "Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules), in the presence of calcium [goid 48306] [evidence IEA]; Interacting selectively with an unfolded protein [goid 51082] [pmid 8980123] [evidence TAS]" MGC102840; BTS MGC102840; BTS Receptor -> Ligand-gated ion channel -> Cyclic nucleotide-gated ion channel;Ion channel -> Ligand-gated ion channel -> Cyclic nucleotide-gated ion channel Transport -> Ion transport -> Cation transport Homo sapiens RefSeq ILMN_27323 ILMN_27323 CNGA1 NM_000087.2 NM_000087.2 1259 71143140 NM_000087.2 CNGA1 NP_000078.2 ILMN_1786353 3440280 S 2189 TCCATGAGGAAAATGTGCTTTGGTGCAAGGTACAAGGCCCACACCCTCTC 4 - 47633037-47633086 4p12a "Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), mRNA." "The outer segment of a vertebrate photoreceptor that contains discs of photoreceptive membranes [goid 1750] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The outer segment of a vertebrate photoreceptor that contains discs of photoreceptive membranes [goid 1750] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7479749] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 7479749] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" "Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of a potassium ion by a voltage-gated channel [goid 5249] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of a potassium ion by a voltage-gated channel [goid 5249] [evidence IEA]; Interacting selectively with cGMP, the nucleotide cyclic GMP (guanosine 3',5'-cyclophosphate) [goid 30553] [evidence IEA]" CNCG; RCNCalpha; RCNC1; CNCG1; RCNCa; CNG1 CNCG1; CNCG; RCNCalpha; RCNCa; RCNC1; CNG1 Extracellular matrix -> Extracellular matrix structural protein Cell adhesion;Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_11548 ILMN_11548 COL1A1 NM_000088.3 NM_000088.3 1277 110349771 NM_000088.3 COL1A1 NP_000079.2 ILMN_1701308 6960142 S 5734 TCCCTCCTAGTCTGTCCTGCGTCCTCTGTCCCCGGGTTTCAGAGACAACT 17 - 45616599-45616648 17q21.33a "Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 10778855] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 1715582] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 1939645] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3872140] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 9295288] [evidence EXP]; Any of the various assemblies in which collagen chains form a left-handed triple helix; may assemble into higher order structures [goid 5581] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9295288] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9028946] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9280292] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 1939645] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10778855] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 1715582] [evidence EXP] "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 1874719] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 1303238] [evidence TAS]" The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16278217] [evidence IPI] OI4 OI4 Extracellular matrix -> Extracellular matrix structural protein Cell adhesion;Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_23060 ILMN_23060 COL1A2 NM_000089.3 NM_000089.3 1278 48762933 NM_000089.3 COL1A2 NP_000080.2 ILMN_2104356 6060612 S 4978 GATCCACATTGTTAGGTGCTGACCTAGACAGAGATGAACTGAGGTCCTTG 7 + 93898047-93898096 7q21.3a "Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 1939645] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 1715582] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 10778855] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3872140] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 9295288] [evidence EXP]; Any of the various assemblies in which collagen chains form a left-handed triple helix; may assemble into higher order structures [goid 5581] [evidence IEA]; A collagen heterotrimer containing two alpha1(I) chains and one alpha2(I) chain; type I collagen triple helices associate to form banded fibrils [goid 5584] [pmid 6267597] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9295288] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 1939645] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 1715582] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9028946] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9280292] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10778855] [evidence EXP] "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 8841196] [evidence TAS]; The series of molecular signals generated as a consequence of a transmembrane receptor tyrosine kinase binding to its physiological ligand [goid 7169] [pmid 15609325] [evidence NAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]" The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16278217] [evidence IPI] OI4 OI4 Extracellular matrix -> Extracellular matrix structural protein Cell adhesion;Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_26128 ILMN_182795 COL3A1 NM_000090.3 NM_000090.3 1281 110224482 NM_000090.3 COL3A1 NP_000081.1 ILMN_1773079 2120021 S 5112 TCAACTGCTTGTAAAGGTGCTCCTCTTTTTTCTTGTCATTGCTGGTCAAG 2 + 189585339-189585388 2q32.2a "Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; Any of the various assemblies in which collagen chains form a left-handed triple helix; may assemble into higher order structures [goid 5581] [evidence IEA]; A collagen homotrimer of alpha1(III) chains; type III collagen triple helices associate to form fibrils [goid 5586] [pmid 7487954] [evidence IMP]; A collagen homotrimer of alpha1(III) chains; type III collagen triple helices associate to form fibrils [goid 5586] [pmid 1672129] [evidence NAS]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 7487954] [evidence IDA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 9036918] [evidence NAS]" "The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [pmid 16912226] [evidence IDA]; The series of molecular signals generated as a consequence of a transforming growth factor beta receptor binding to one of its physiological ligands [goid 7179] [pmid 16360482] [evidence IDA]; Any series of molecular signals generated as a consequence of an integrin binding to one of its physiological ligands [goid 7229] [pmid 14970208] [evidence IMP]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [pmid 7546986] [evidence IMP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation [goid 9314] [pmid 14736764] [evidence IDA]; The formation of a covalent cross-link between or within protein chains [goid 18149] [pmid 16754721] [evidence IDA]; A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug [goid 30168] [pmid 9573018] [evidence NAS]; Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix [goid 30199] [pmid 1672129] [evidence NAS]; Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix [goid 30199] [pmid 7546986] [evidence IMP]; Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix [goid 30199] [pmid 9036918] [evidence IMP]; The chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%) [goid 32964] [pmid 9036918] [evidence IMP]; The chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%) [goid 32964] [pmid 7546986] [evidence IMP]; The chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%) [goid 32964] [pmid 6295694] [evidence TAS]; The chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%) [goid 32964] [pmid 2981879] [evidence IMP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus [goid 34097] [pmid 16360482] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus [goid 34097] [pmid 9076960] [evidence IDA]; The series of events that restore integrity to a damaged tissue, following an injury [goid 42060] [pmid 1466622] [evidence IDA]; The series of events that restore integrity to a damaged tissue, following an injury [goid 42060] [pmid 14736764] [evidence NAS]; The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue [goid 43588] [pmid 9036918] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus [goid 50777] [pmid 16754721] [evidence IMP]" Interacting selectively with an integrin [goid 5178] [pmid 9573018] [evidence IMP]; Interacting selectively with an integrin [goid 5178] [pmid 14970208] [evidence NAS]; The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [pmid 9036918] [evidence IMP]; The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [pmid 7487954] [evidence IMP]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 2839553] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16912226] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16754721] [evidence IPI] EDS4A; FLJ34534 FLJ34534; EDS4A Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_177603 ILMN_177603 COL4A3 NM_000091.3 NM_000091.3 1285 89142729 NM_000091.3 COL4A3 NP_000082.2 ILMN_2272270 6130474 I 4918 TTCACAAGTGCAGGTTCTGAGGGCACCGGGCAAGCACTGGCCTCCCCTGG 2 + 227883736-227883785 2q36.3b-q36.3c "Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), transcript variant 1, mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; Any of the various assemblies in which collagen chains form a left-handed triple helix; may assemble into higher order structures [goid 5581] [evidence IEA]; A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form nets within basement membranes [goid 5587] [pmid 10766752] [evidence IDA]" "A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [pmid 10766752] [evidence IDA]; Upregulation of the activity of a caspase, any of a group of cysteine proteases involved in apoptosis [goid 6919] [pmid 10766752] [evidence IDA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [pmid 10766752] [evidence NAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 7987396] [evidence TAS]; The flow of blood through the body of an animal, enabling the transport of O2 and nutrients to the tissues and the removal of waste products [goid 8015] [pmid 10766752] [evidence TAS]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 10837460] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of angiogenesis [goid 16525] [pmid 12682293] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of angiogenesis [goid 16525] [pmid 10766752] [evidence IDA]" "Interacting selectively with an integrin [goid 5178] [pmid 12682293] [evidence IDA]; Interacting selectively with an integrin [goid 5178] [pmid 10766752] [evidence TAS]; The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12682293] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10212244] [evidence IPI]; Stops, prevents or reduces the activity of metalloendopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain and contain a chelated metal ion at their active sites which is essential to their catalytic activity [goid 8191] [pmid 10766752] [evidence NAS]" Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_17787 ILMN_173215 COL4A4 NM_000092.4 NM_000092.4 1286 116256355 NM_000092.4 COL4A4 NP_000083.3 ILMN_1778308 4010730 S 7687 CCTGTTCATCTTGAACTTGGCCTGAGAACATTTTCTGGGAAGAGGTAAGG 2 - 227578275-227578324 2q36.3b "Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA." "Any of the various assemblies in which collagen chains form a left-handed triple helix; may assemble into higher order structures [goid 5581] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; Any of the various assemblies in which collagen chains form a left-handed triple helix; may assemble into higher order structures [goid 5581] [evidence IEA]; A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form nets within basement membranes [goid 5587] [pmid 7523402] [evidence IDA]" Any process that results in an increase in the efficacy of transmission at a neuromuscular synapse [goid 42062] [pmid 2211832] [evidence IDA] "The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [evidence ISS]; The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [pmid 8253711] [evidence TAS]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]" CA44 CA44 Extracellular matrix -> Extracellular matrix structural protein Developmental processes -> Mesoderm development Homo sapiens RefSeq ILMN_139036 ILMN_31902 COL5A1 NM_000093.3 NM_000093.3 1289 89276750 NM_000093.3 COL5A1 NP_000084.3 ILMN_1706505 4920369 S 6329 GTTCCAAGGTAAGCCTCGTAAAGGTCATCCCACCATCACCAAAGCCTCCG 9 + 136874400-136874449 9q34.3a "Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA." Any of the various assemblies in which collagen chains form a left-handed triple helix; may assemble into higher order structures [goid 5581] [evidence IEA]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [evidence IEA]; Any of the various assemblies in which collagen chains form a left-handed triple helix; may assemble into higher order structures [goid 5581] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; Any of the various assemblies in which collagen chains form a left-handed triple helix; may assemble into higher order structures [goid 5581] [evidence IEA]; A collagen heterotrimer containing type V alpha chains; [alpha1(V)]2alpha2(V) and alpha1(V)alpha2(V)alpha3(V) trimers have been observed; type V collagen triple helices associate to form fibrils [goid 5588] [pmid 9042913] [evidence TAS] "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]" "The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [evidence IEA]; The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [evidence IEA]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [evidence IEA]" Extracellular matrix -> Extracellular matrix structural protein Cell adhesion;Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_24830 ILMN_24830 COL7A1 NM_000094.2 NM_000094.2 1294 17738300 NM_000094.2 COL7A1 NP_000085.1 ILMN_1751161 2490593 S 9046 TGCACGTCCGTTATTTCAGTGACTTGGTCCCGTGGGTCTAGCCTTCCCCC 3 - 48576675-48576724 3p21.31e "Homo sapiens collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive) (COL7A1), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A collagen homotrimer of alpha1(VII) chains; type VII collagen triple helices form antiparallel dimer, which in turn associate laterally to form anchoring fibrils that connect type IV collagen in the basal lamina to plaques in the underlying connective tissue [goid 5590] [pmid 9375848] [evidence TAS]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [pmid 9375848] [evidence TAS]" "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 8170945] [evidence TAS]" "Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]" EBR1; EBD1; EBDCT EBR1; EBD1; EBDCT Signaling molecule -> Other signaling molecule;Select regulatory molecule -> Other enzyme regulator;Extracellular matrix -> Other extracellular matrix Immunity and defense -> Blood clotting;Developmental processes -> Other developmental process Homo sapiens RefSeq ILMN_15049 ILMN_15049 COMP NM_000095.2 NM_000095.2 1311 40217842 NM_000095.2 COMP NP_000086.2 ILMN_1677636 2360148 S 2274 AGAGGACTATGAGACCCATCAGCTGCGGCAAGCCTAGGGACCAGGGTGAG 19 - 18754711-18754724:18754725-18754760 19p13.11b "Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [pmid 7713493] [evidence TAS] "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 7670472] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [pmid 7713493] [evidence TAS]" The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [pmid 7713493] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 7670472] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] MGC149768; MED; PSACH; EPD1; MGC131819; EDM1; THBS5 MGC149768; PSACH; MGC131819; EDM1; MED; EPD1; THBS5 Transporter -> Other transporter;Transfer/carrier protein -> Other transfer/carrier protein;Oxidoreductase -> Oxidase Homeostasis -> Other homeostasis activities Homo sapiens RefSeq ILMN_24449 ILMN_24449 CP NM_000096.1 NM_000096.1 1356 4557484 NM_000096.1 CP NP_000087.1 ILMN_1813206 6940364 S 2004 AGGAGAACGGAGAGACACAGCAAACCTCTTCCCTCAAACAAGTCTTACGC 3 - 150387020-150387069 3q24f-q25.1a "Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 7708681] [evidence TAS]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of copper (Cu) ions into, out of, within or between cells [goid 6825] [evidence IEA]; The regulation of the levels, transport, and metabolism of iron ions within a cell or between a cell and its external environment [goid 6879] [pmid 9445478] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: 4 Fe2+ + 4 H+ + O2 = 4 Fe3+ + 2 H2O [goid 4322] [pmid 7708681] [evidence TAS]; Catalysis of the transfer of copper (Cu) ions from one side of a membrane to the other [goid 5375] [evidence IEA]; Interacting selectively with copper (Cu) ions [goid 5507] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" Transferase -> Acetyltransferase;Transferase -> Acyltransferase Amino acid metabolism;Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism Homo sapiens RefSeq ILMN_14102 ILMN_180571 CPT2 NM_000098.1 NM_000098.1 1376 4503022 NM_000098.1 CPT2 NP_000089.1 ILMN_1678579 5360653 S 2843 CTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGC 1 + 53452206-53452255 1p32.3c "Homo sapiens carnitine palmitoyltransferase II (CPT2), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [pmid 1988962] [evidence NAS]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [pmid 7711730] [evidence EXP]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis [goid 6631] [evidence IEA]; The metabolic oxidation of a long-chain fatty acid by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A [goid 6635] [evidence NAS]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The transfer of acyl groups to and from acyl-CoA molecules to form O-acylcarnitine, which can exchange across the mitochondrial inner membrane with unacylated carnitine [goid 6853] [pmid 11257506] [evidence EXP]; Any process that modulates the frequency, rate or extent of fatty acid oxidation [goid 46320] [pmid 16054041] [evidence EXP]" "Catalysis of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine [goid 4095] [pmid 1988962] [evidence NAS]; Catalysis of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine [goid 4095] [pmid 7711730] [evidence EXP]; Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" CPTASE; CPT1 CPTASE; CPT1 Select regulatory molecule -> Protease inhibitor -> Cysteine protease inhibitor Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_15664 ILMN_15664 CST3 NM_000099.2 NM_000099.2 1471 19882253 NM_000099.2 CST3 NP_000090.1 ILMN_1800354 6450543 S 465 GCCTTGGCAGGGCACAATGACCTTGTCGAAATCCACCTGTCAGGACGCCT 20 - 23562554-23562603 20p11.21b "Homo sapiens cystatin C (CST3), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 18613859] [evidence IDA]" "The reorganization or renovation of existing blood vessels [goid 1974] [pmid 10545518] [evidence IEP]; Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack [goid 6952] [pmid 6203523] [evidence IDA]; The breakdown of tissues; usually, if not always, accompanied by cell death [goid 7559] [pmid 7890620] [evidence IC ]; Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins [goid 10466] [pmid 6203523] [evidence IDA]; Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins [goid 10466] [pmid 7890620] [evidence IDA]; A process that results in the breakdown of the extracellular matrix [goid 22617] [pmid 10545518] [evidence IEP]; The proteolytic chemical reactions and pathways resulting in the breakdown of collagen in the extracellular matrix, usually carried out by proteases secreted by nearby cells [goid 30574] [pmid 10545518] [evidence IEP]; Any process that modulates the frequency, rate, or extent of tissue remodeling [goid 34103] [pmid 10545518] [evidence IEP]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of fibrils, extracellular matrix material consisting of polysaccharides and protein [goid 43206] [pmid 18026102] [evidence IGI]; The chemical reactions and pathways involving elastin, a glycoprotein which is randomly coiled and cross linked to form elastic fibres that are found in connective tissue [goid 51541] [pmid 10545518] [evidence IMP]" Interacting selectively with beta-amyloid peptide/protein and/or its precursor [goid 1540] [pmid 18026102] [evidence IPI]; Interacting selectively with any protease or peptidase [goid 2020] [pmid 6203523] [evidence IPI]; Interacting selectively with any protease or peptidase [goid 2020] [pmid 7890620] [evidence IPI]; Interacting selectively with any protease or peptidase [goid 2020] [pmid 6203523] [evidence IPI]; [goid 4869] [evidence IEA] MGC117328 MGC117328 Select regulatory molecule -> Protease inhibitor -> Cysteine protease inhibitor Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_26819 ILMN_26819 CSTB NM_000100.2 NM_000100.2 1476 20357564 NM_000100.2 CSTB NP_000091.1 ILMN_1761797 1430187 S 216 CTGTGTTTAAGGCCGTGTCATTCAAGAGCCAGGTGGTCGCGGGGACAAAC 21 - 44018978-44019027 21q22.3c "Homo sapiens cystatin B (stefin B) (CSTB), mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "Locomotory behavior in a fully developed and mature organism [goid 8344] [evidence IEA]; Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins [goid 10466] [pmid 6203523] [evidence IDA]" Interacting selectively with any protease or peptidase [goid 2020] [pmid 6203523] [evidence IPI]; [goid 4869] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI] CST6; STFB; PME; EPM1 PME; CST6; EPM1; STFB Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_6945 ILMN_6945 CYBA NM_000101.2 NM_000101.2 1535 68509913 NM_000101.2 CYBA NP_000092.2 ILMN_1744604 4070392 S 292 AATTACTATGTTCGGGCCGTCCTGCATCTCCTGCTCTCGGTGCCCGCCGG 16 - 87240088-87240106:87240664-87240694 16q24.3a "Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules [goid 30141] [pmid 12005167] [evidence TAS]; A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2 [goid 43020] [pmid 3305576] [evidence IDA]; A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2 [goid 43020] [pmid 1763037] [evidence IMP]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 2243141] [evidence IMP]; The enlargement or overgrowth of all or part of an organ due to an increase in size of its smooth muscle cells without cell division. Physiological hypertrophy is a normal process during development, and can also occur in mature structures on demand. In the uterus, smooth muscle cells undergo hypertrophy during pregnancy [goid 14895] [evidence ISS]; The aggregation, arrangement and bonding together of a cytochrome complex. A cytochrome complex is a protein complex in which at least one of the proteins is a cytochrome, i.e. a heme-containing protein involved in catalysis of redox reactions [goid 17004] [pmid 7938008] [evidence IDA]; A process whereby a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient [goid 22900] [evidence IEA]; The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways [goid 42554] [pmid 2243141] [evidence IMP]; Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens [goid 45087] [pmid 2243141] [evidence IMP]; A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals [goid 45730] [pmid 2243141] [evidence IMP]; The chemical reactions and pathways resulting in the formation of hydrogen peroxide (H2O2), a potentially harmful byproduct of aerobic cellular respiration which can cause damage to DNA [goid 50665] [evidence ISS]" "Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16326715] [evidence IPI]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [pmid 2243141] [evidence TAS]; Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2- [goid 16175] [pmid 1763037] [evidence IMP]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins [goid 17124] [pmid 7938008] [evidence IPI]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 12042318] [evidence IPI]" Oxidoreductase -> Oxygenase Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Steroid hormone metabolism;Electron transport Homo sapiens RefSeq ILMN_14207 ILMN_14207 CYP17A1 NM_000102.3 NM_000102.3 1586 91107038 NM_000102.3 CYP17A1 NP_000093.1 ILMN_1760554 3890278 S 1733 TGGCCCCACAACACAGATTTAGAGATACAACCCCCCACCCTTCTCCGCCA 10 - 104580365-104580414 10q24.32b "Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 9326943] [evidence NAS]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [pmid 10406467] [evidence EXP]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter [goid 30424] [evidence IEA]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [evidence IEA]" "The chemical reactions and pathways resulting in the formation of C21-steroid hormones, steroid compounds containing 21 carbons which function as hormones [goid 6700] [evidence IEA]; The chemical reactions and pathways resulting in the formation of glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol [goid 6704] [evidence IEA]; The establishment of the sex of an organism by physical differentiation [goid 7548] [pmid 9326943] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Catalysis of the reaction: a steroid + AH2 + O2 = a 17a-hydroxysteroid + A + H2O [goid 4508] [pmid 10406467] [evidence EXP]; Catalysis of the reaction: a steroid + AH2 + O2 = a 17a-hydroxysteroid + A + H2O [goid 4508] [pmid 1347802] [evidence TAS]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with oxygen (O2) [goid 19825] [pmid 2808364] [evidence TAS]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" CPT7; P450C17; S17AH; CYP17 P450C17; CPT7; S17AH; CYP17 Oxidoreductase -> Oxygenase Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Steroid hormone metabolism;Electron transport Homo sapiens RefSeq ILMN_13712 ILMN_13712 CYP19A1 NM_000103.2 NM_000103.2 1588 13904857 NM_000103.2 CYP19A1 NP_000094.2 ILMN_2387860 3120348 A 1821 TGCTCCTGTTCACACCAGAGAACCAGGCTACAAGAGAAAAAGCAGAGGCC 15 - 49290079-49290128 15q21.2b "Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 1, mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 2848247] [evidence TAS]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 11256614] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification [goid 6694] [pmid 15583024] [evidence EXP]; The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification [goid 6694] [pmid 2848247] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the reaction: RH + reduced flavoprotein + O2 = ROH + oxidized flavoprotein + H2O [goid 50381] [evidence IEA]; Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [pmid 2848247] [evidence TAS]; Interacting selectively with oxygen (O2) [goid 19825] [pmid 2848247] [evidence TAS]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the reaction: RH + reduced flavoprotein + O2 = ROH + oxidized flavoprotein + H2O [goid 50381] [pmid 1371509] [evidence TAS]" P-450AROM; ARO; ARO1; CYP19; MGC104309; CYAR; CPV1 P-450AROM; ARO; ARO1; CYP19; MGC104309; CYAR; CPV1 Oxidoreductase -> Oxygenase Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism;Lipid, fatty acid and steroid metabolism -> Steroid metabolism;Electron transport Homo sapiens RefSeq ILMN_14614 ILMN_183945 CYP1B1 NM_000104.2 NM_000104.2 1545 13325059 NM_000104.2 CYP1B1 NP_000095.1 ILMN_1693338 2120053 S 4718 GCTTTCATGTCCCAGAACTTAGCCTTTACCTGTGAAGTGTTACTACAGCC 2 - 38148604-38148653 2p22.2a "Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA." "The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 9097971] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [pmid 9097971] [evidence TAS]" "Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [pmid 9097971] [evidence TAS]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with oxygen (O2) [goid 19825] [pmid 9097971] [evidence TAS]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [pmid 9097971] [evidence TAS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the reaction: RH + reduced flavoprotein + O2 = ROH + oxidized flavoprotein + H2O [goid 50381] [evidence IEA]" GLC3A; CP1B GLC3A; CP1B Oxidoreductase -> Oxygenase Lipid, fatty acid and steroid metabolism -> Other lipid, fatty acid and steroid metabolism;Lipid, fatty acid and steroid metabolism -> Steroid metabolism;Electron transport Homo sapiens RefSeq ILMN_27062 ILMN_27062 CYP2D6 NM_000106.4 NM_000106.4 1565 68509919 NM_000106.4 CYP2D6 NP_000097.2 ILMN_2383124 1450709 A 973 CTGTGCATAGTGGTGGCTGACCTGTTCTCTGCCGGGATGGTGACCACCTC 22 - 40853840-40853889 22q13.2b "Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA." "The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA] "Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor [goid 16712] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the reaction: RH + reduced flavoprotein + O2 = ROH + oxidized flavoprotein + H2O [goid 50381] [evidence IEA]; Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the reaction: RH + reduced flavoprotein + O2 = ROH + oxidized flavoprotein + H2O [goid 50381] [evidence IEA]" P450C2D; MGC120389; CPD6; P450-DB1; MGC120390; CYP2D; CYP2DL1; CYP2D@ P450C2D; MGC120389; CPD6; P450-DB1; MGC120390; CYP2D; CYP2DL1; CYP2D@ Nucleic acid binding -> Damaged DNA-binding protein Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair Homo sapiens RefSeq ILMN_425 ILMN_425 DDB2 NM_000107.1 NM_000107.1 1643 4557514 NM_000107.1 DDB2 NP_000098.1 ILMN_1660817 2000482 S 1436 GAGGAAGCCAGGACACGGAAGTGAGAGACACTAAAGAAGGTGTGGGCCAG 11 + 47216953-47216976:47216977-47217002 11p11.2b "Homo sapiens damage-specific DNA binding protein 2, 48kDa (DDB2), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10214908] [evidence EXP]; Any macromolecular complex composed of two or more polypeptide subunits, which may or may not be identical. Protein complexes may have other associated non-protein prosthetic groups, such as nucleotides, metal ions or carbohydrate groups [goid 43234] [pmid 12732143] [evidence IDA]" "Addition of multiple ubiquitin moieties to a protein, forming a ubiquitin chain [goid 209] [pmid 12732143] [evidence IDA]; The removal of the oligonucleotide that contains the DNA damage. The oligonucleotide is formed by dual incisions that flank the site of DNA damage [goid 718] [pmid 10583946] [evidence EXP]; The repair of UV-induced T-T, C-T and C-C dimers [goid 6290] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers [goid 9411] [pmid 12732143] [evidence IDA]; The ubiquitination by a protein of one or more of its own amino acid residues, or residues on an identical protein. Ubiquitination occurs on the lysine residue by formation of an isopeptide crosslink [goid 51865] [pmid 12732143] [evidence IDA]" Interacting selectively with damaged DNA [goid 3684] [pmid 8407967] [evidence TAS]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [pmid 12732143] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12732143] [evidence IPI] FLJ34321 FLJ34321 Oxidoreductase -> Dehydrogenase Electron transport Homo sapiens RefSeq ILMN_18159 ILMN_168272 DLD NM_000108.3 NM_000108.3 1738 91199539 NM_000108.3 DLD NP_000099.2 ILMN_1664577 1260195 S 1675 CCTGGGAGCTTTTGTAGAAGTCACATTCCTGAACAGGATATTCTCACAGC 7 + 107346975-107347024 7q31.1a "Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 3278312] [evidence TAS]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 2188967] [evidence EXP]" Any process that maintains the redox environment of a cell or compartment within a cell [goid 45454] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA] "Catalysis of the reaction: protein N6-(dihydrolipoyl)lysine + NAD+ = protein N6-(lipoyl)lysine + NADH + H+ [goid 4148] [pmid 8506365] [evidence TAS]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [evidence IEA]" E3; PHE3; DLDH; GCSL; LAD PHE3; DLDH; GCSL; LAD; E3 Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein;Select calcium binding protein Signal transduction -> Intracellular signaling cascade -> NO mediated signal transduction;Neuronal activities -> Synaptic transmission;Developmental processes -> Mesoderm development -> Muscle development;Cell structure and motility Homo sapiens RefSeq ILMN_27767 ILMN_27767 DMD NM_000109.2 NM_000109.2 1756 5032280 NM_000109.2 DMD NP_000100.2 ILMN_1667756 7320504 I 299 GCAGCCAACTTATTGGCATGATGGAGTGACAGGAAAAACAGCTGGCATGG X - 33267299-33267303:33267304-33267348 Xp21.2a-p21.1d "Homo sapiens dystrophin (DMD), transcript variant Dp427c, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase [goid 16010] [pmid 2261642] [evidence ISS]; That fraction of cells, prepared by disruptive biochemical methods, that is not soluble in water [goid 5626] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase [goid 16010] [evidence IEA]; Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached [goid 30018] [evidence IEA]; A specialized region of connection between a cell and the extracellular matrix [goid 30055] [evidence IEA]; The outer membrane of a muscle fiber, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers [goid 42383] [evidence IEA]; Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions [goid 45121] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that is not soluble in water [goid 5626] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase [goid 16010] [evidence IEA]; Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached [goid 30018] [evidence IEA]; A specialized region of connection between a cell and the extracellular matrix [goid 30055] [evidence IEA]; The outer membrane of a muscle fiber, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers [goid 42383] [evidence IEA]; Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions [goid 45121] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that is not soluble in water [goid 5626] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase [goid 16010] [evidence IEA]; Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached [goid 30018] [evidence IEA]; A specialized region of connection between a cell and the extracellular matrix [goid 30055] [evidence IEA]; The outer membrane of a muscle fiber, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers [goid 42383] [evidence IEA]; Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions [goid 45121] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that is not soluble in water [goid 5626] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase [goid 16010] [evidence IEA]; Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached [goid 30018] [evidence IEA]; A specialized region of connection between a cell and the extracellular matrix [goid 30055] [evidence IEA]; The outer membrane of a muscle fiber, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers [goid 42383] [evidence IEA]; Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions [goid 45121] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that is not soluble in water [goid 5626] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase [goid 16010] [evidence IEA]; Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached [goid 30018] [evidence IEA]; A specialized region of connection between a cell and the extracellular matrix [goid 30055] [evidence IEA]; The outer membrane of a muscle fiber, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers [goid 42383] [evidence IEA]; Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions [goid 45121] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that is not soluble in water [goid 5626] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase [goid 16010] [evidence IEA]; Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached [goid 30018] [evidence IEA]; A specialized region of connection between a cell and the extracellular matrix [goid 30055] [evidence IEA]; The outer membrane of a muscle fiber, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers [goid 42383] [evidence IEA]; Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions [goid 45121] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that is not soluble in water [goid 5626] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 3282674] [evidence TAS]; The external part of the cell wall and/or plasma membrane [goid 9986] [pmid 10867799] [evidence IDA]; A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase [goid 16010] [evidence IEA]; A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase [goid 16010] [pmid 8282811] [evidence TAS]; Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached [goid 30018] [evidence IEA]; A specialized region of connection between a cell and the extracellular matrix [goid 30055] [evidence IEA]; The outer membrane of a muscle fiber, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers [goid 42383] [evidence IEA]; The outer membrane of a muscle fiber, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers [goid 42383] [pmid 7545544] [evidence IDA]; Regular periodic sub membranous arrays of vinculin in skeletal and cardiac muscle cells, these arrays link Z-discs to the sarcolemma and are associated with links to extracellular matrix [goid 43034] [pmid 16000376] [evidence IDA]; Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions [goid 45121] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]" "Process by which cytoskeletal filaments are directly or indirectly linked to the plasma membrane [goid 7016] [pmid 2261642] [evidence ISS]; The developmental sequence of events leading to the formation of adult muscle that occurs in the anima. In vertebrate skeletal muscle the main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers [goid 7519] [evidence IEA]; The chemical reactions and pathways involving neurotransmitter receptors [goid 45213] [evidence IEA]; The cellular homeostatic process by which a muscle fiber is preserved in a stable functional or structural state [goid 46716] [evidence IEA]; The developmental sequence of events leading to the formation of adult muscle that occurs in the anima. In vertebrate skeletal muscle the main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers [goid 7519] [evidence IEA]; The chemical reactions and pathways involving neurotransmitter receptors [goid 45213] [evidence IEA]; The cellular homeostatic process by which a muscle fiber is preserved in a stable functional or structural state [goid 46716] [evidence IEA]; The developmental sequence of events leading to the formation of adult muscle that occurs in the anima. In vertebrate skeletal muscle the main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers [goid 7519] [evidence IEA]; The chemical reactions and pathways involving neurotransmitter receptors [goid 45213] [evidence IEA]; The cellular homeostatic process by which a muscle fiber is preserved in a stable functional or structural state [goid 46716] [evidence IEA]; The developmental sequence of events leading to the formation of adult muscle that occurs in the anima. In vertebrate skeletal muscle the main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers [goid 7519] [evidence IEA]; The chemical reactions and pathways involving neurotransmitter receptors [goid 45213] [evidence IEA]; The cellular homeostatic process by which a muscle fiber is preserved in a stable functional or structural state [goid 46716] [evidence IEA]; The developmental sequence of events leading to the formation of adult muscle that occurs in the anima. In vertebrate skeletal muscle the main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers [goid 7519] [evidence IEA]; The chemical reactions and pathways involving neurotransmitter receptors [goid 45213] [evidence IEA]; The cellular homeostatic process by which a muscle fiber is preserved in a stable functional or structural state [goid 46716] [evidence IEA]; The developmental sequence of events leading to the formation of adult muscle that occurs in the anima. In vertebrate skeletal muscle the main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers [goid 7519] [evidence IEA]; The chemical reactions and pathways involving neurotransmitter receptors [goid 45213] [evidence IEA]; The cellular homeostatic process by which a muscle fiber is preserved in a stable functional or structural state [goid 46716] [evidence IEA]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 1824797] [evidence NAS]; The developmental sequence of events leading to the formation of adult muscle that occurs in the anima. In vertebrate skeletal muscle the main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers [goid 7519] [evidence IEA]; The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide [goid 43043] [pmid 16000376] [evidence IDA]; The chemical reactions and pathways involving neurotransmitter receptors [goid 45213] [evidence IEA]; The cellular homeostatic process by which a muscle fiber is preserved in a stable functional or structural state [goid 46716] [evidence IEA]" "Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [pmid 2261642] [evidence ISS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [pmid 12376554] [evidence TAS]; The action of a molecule that contributes to the structural integrity of a cytoskeletal structure [goid 5200] [pmid 3282674] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16000376] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a muscle fiber [goid 8307] [pmid 16000376] [evidence IDA]; The action of a molecule that contributes to the structural integrity of a muscle fiber [goid 8307] [pmid 3287171] [evidence TAS]; Interacting selectively with the enzyme nitric-oxide synthase [goid 50998] [pmid 7545544] [evidence ISS]" DXS272; DXS269; DXS268; DXS270; DXS239; DXS142; DXS206; DXS230; CMD3B; DXS164; BMD DXS272; DXS269; DXS230; DXS268; DXS270; DXS239; DXS142; DXS206; CMD3B; DXS164; BMD Oxidoreductase -> Dehydrogenase Nucleoside, nucleotide and nucleic acid metabolism -> Pyrimidine metabolism Homo sapiens RefSeq ILMN_19002 ILMN_19002 DPYD NM_000110.3 NM_000110.3 1806 119943097 NM_000110.3 DPYD NP_000101.2 ILMN_1795715 670273 S 3794 TCCCCTTCGCTGAAATTGCTTATTTTTGGTGTTGGATAGAGGATAGGGAG 1 - 97316491-97316540 1p21.3b "Homo sapiens dihydropyrimidine dehydrogenase (DPYD), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 1512248] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8083224] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9348115] [evidence IDA]" "The chemical reactions and pathways resulting in the breakdown of purine bases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine [goid 6145] [pmid 11988088] [evidence IMP]; The chemical reactions and pathways resulting in the formation of pyrimidine bases, 1,3-diazine, organic nitrogenous bases, beginning with the synthesis of a pyrimidine ring from simpler precursors [goid 6207] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of thymine, 5-methyluracil, one of the two major pyrimidine bases present (as thymidine) in DNA but not found in RNA other than (as ribothymidine) in transfer RNA, where it is a minor base [goid 6210] [pmid 10410956] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of uracil, 2,4-dioxopyrimidine, one of the pyrimidine bases occurring in RNA, but not in DNA [goid 6212] [pmid 18075467] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of uracil, 2,4-dioxopyrimidine, one of the pyrimidine bases occurring in RNA, but not in DNA [goid 6212] [pmid 1512248] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of thymidine, deoxyribosylthymine thymine 2-deoxyriboside, a deoxynucleoside very widely distributed but occurring almost entirely as phosphoric esters in deoxynucleotides and deoxyribonucleic acid, DNA [goid 6214] [pmid 1512248] [evidence IDA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with an iron-sulfur cluster, a combination of iron and sulfur atoms [goid 51536] [evidence IEA]; Catalysis of the reaction: (S)-dihydroorotate + O2 = orotate + H2O2 [goid 4158] [evidence IEA]; Catalysis of the reaction: 5,6-dihydrouracil + NAD+ = uracil + NADH + H+ [goid 4159] [pmid 8083224] [evidence EXP]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the reaction: 5,6-dihydrouracil + NADP+ = uracil + NADPH + H+ [goid 17113] [pmid 11988088] [evidence IMP]; Catalysis of the reaction: 5,6-dihydrouracil + NADP+ = uracil + NADPH + H+ [goid 17113] [pmid 8083224] [evidence EXP]; Catalysis of the reaction: 5,6-dihydrouracil + NADP+ = uracil + NADPH + H+ [goid 17113] [pmid 1512248] [evidence IDA]; Catalysis of the reaction: 5,6-dihydrouracil + NADP+ = uracil + NADPH + H+ [goid 17113] [evidence ISS]; Catalysis of the reaction: 5,6-dihydrouracil + NADP+ = uracil + NADPH + H+ [goid 17113] [pmid 18075467] [evidence IDA]; Catalysis of the reaction: 5,6-dihydrouracil + NADP+ = uracil + NADPH + H+ [goid 17113] [pmid 10410956] [evidence IDA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [evidence ISS]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 1512248] [evidence IDA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [evidence ISS]; Interacting selectively with nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NADP, or the reduced form, NADPH [goid 50661] [evidence ISS]; Interacting selectively with a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands [goid 51539] [evidence IEA]" DPD; MGC70799; MGC132008; DHP MGC132008; DPD; DHP; MGC70799 Transporter -> Other transporter Sulfur metabolism -> Other sulfur metabolism;Transport -> Ion transport -> Anion transport;Transport -> Extracellular transport and import Homo sapiens RefSeq ILMN_21833 ILMN_21833 SLC26A3 NM_000111.1 NM_000111.1 1811 4557534 NM_000111.1 SLC26A3 NP_000102.1 ILMN_1760087 2570672 S 2746 TCCATCCTAGTCACTACCTTCATGCATAGGTTTAGCAGTATAGTGGCGCC 7 - 107193205-107193254 7q22.3c-q31.1a "Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 8896562] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of anions, atoms or small molecules with a net negative charge, into, out of, within or between cells [goid 6820] [pmid 9554749] [evidence TAS]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 8896562] [evidence TAS]; The directed movement of sulfate into, out of, within or between cells [goid 8272] [evidence IEA]" "The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 7683425] [evidence TAS]; The function that links a sequence-specific transcription factor to the core RNA polymerase II complex but does not bind DNA itself [goid 3712] [pmid 7683425] [evidence TAS]; Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [pmid 8896562] [evidence TAS]; Catalysis of the secondary active transfer of sulfate from one side of the membrane to the other. Secondary active transport is catalysis of the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy. Chemiosmotic sources of energy include uniport, symport or antiport [goid 8271] [evidence IEA]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15297] [evidence IEA]; Interacting selectively with chloride ions (Cl-) [goid 31404] [evidence IEA]" CLD; DRA CLD; DRA Transporter -> Other transporter Sulfur metabolism -> Other sulfur metabolism;Transport -> Ion transport -> Anion transport;Transport -> Extracellular transport and import Homo sapiens RefSeq ILMN_21352 ILMN_169714 SLC26A2 NM_000112.3 NM_000112.3 1836 100913029 NM_000112.3 SLC26A2 NP_000103.2 ILMN_1801491 3140102 S 7892 GGGATGAGGATGAGTTATTAATGTATTGCAGCCTACTGGAAAGGAGGGGG 5 + 149346973-149347022 5q33.1c "Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 8528239] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8528239] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of sulfate into, out of, within or between cells [goid 8272] [pmid 7923357] [evidence TAS]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Catalysis of the secondary active transfer of sulfate from one side of the membrane to the other. Secondary active transport is catalysis of the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy. Chemiosmotic sources of energy include uniport, symport or antiport [goid 8271] [evidence IEA]" DTDST; MSTP157; MST153; D5S1708; DTD; EDM4 MST153; DTDST; D5S1708; MSTP157; DTD; EDM4 Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_26215 ILMN_162390 TOR1A NM_000113.2 NM_000113.2 1861 56550122 NM_000113.2 TOR1A NP_000104.1 ILMN_1805812 4890500 S 1729 CAGCCTCTCCAAGGGTTTTCACCTTAGCAACAATGGGAGCTGTGGGAGTG 9 - 131615369-131615418 9q34.11d "Homo sapiens torsin family 1, member A (torsin A) (TOR1A), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10814722] [evidence TAS]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 10814722] [evidence TAS]; The volume enclosed by the membranes of the endoplasmic reticulum [goid 5788] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space [goid 31965] [evidence IEA]" "The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure [goid 6457] [pmid 9288096] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an unfolded protein stimulus [goid 6986] [pmid 9288096] [evidence TAS]; The process of assisting in the correct noncovalent assembly of posttranslational proteins and is dependent on additional protein cofactors. This process occurs over one or several cycles of nucleotide hydrolysis-dependent binding and release [goid 51085] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 9288096] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 9288096] [evidence TAS]; Interacting selectively with an unfolded protein [goid 51082] [pmid 10814722] [evidence TAS]" DYT1; DQ2; torsin A DYT1; DQ2; torsin A Receptor -> G-protein coupled receptor Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Signal transduction -> Intracellular signaling cascade -> Calcium mediated signaling;Muscle contraction;Developmental processes -> Ectoderm development -> Neurogenesis;Blood circulation and gas exchange -> Regulation of vasoconstriction, dilation;Cell proliferation and differentiation Homo sapiens RefSeq ILMN_174339 ILMN_174339 EDNRB NM_000115.1 NM_000115.1 1910 4557546 NM_000115.1 EDNRB NP_000106.1 ILMN_2264916 5890039 I 3941 CATATGGCCAAAGGAATACAGTTTATAGCAAAACATGGGTATGCTGTAGC 13 - 77367908-77367957 13q22.3b "Homo sapiens endothelin receptor type B (EDNRB), transcript variant 1, mRNA." The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8810293] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8810293] [evidence TAS] "The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo [goid 1755] [evidence IEA]; Any process that modulates the internal pH of an organism, part of an organism or a cell, measured by the concentration of the hydrogen ion [goid 6885] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of adenylate cyclase activity [goid 7194] [pmid 9556633] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by the activation of phospholipase C and the subsequent release of inositol trisphosphate [goid 7200] [pmid 9556633] [evidence TAS]; The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands [goid 7422] [evidence IEA]; The process whose specific outcome is the progression of the posterior midgut over time, from its formation to the mature structure [goid 7497] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; The process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure [goid 8217] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a melanocyte [goid 30318] [evidence IEA]; The deposition of coloring matter in an organism, tissue or cell, occurring during development [goid 48066] [evidence IEA]; The movement of a macrophage in response to an external stimulus [goid 48246] [pmid 12207323] [evidence IMP]" A G-protein coupled receptor that binds all endothelin molecules with approximately equal affinity [goid 1600] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] HSCR; ABCDS; HSCR2; ETRB; ETB HSCR; ABCDS; HSCR2; ETRB; ETB Receptor -> G-protein coupled receptor Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Signal transduction -> Intracellular signaling cascade -> Calcium mediated signaling;Muscle contraction;Developmental processes -> Ectoderm development -> Neurogenesis;Blood circulation and gas exchange -> Regulation of vasoconstriction, dilation;Cell proliferation and differentiation Homo sapiens RefSeq ILMN_12589 ILMN_22613 EDNRB NM_000115.1 NM_000115.1 1910 4557546 NM_000115.1 EDNRB NP_000106.1 ILMN_1751904 2970164 A 1215 TTGCCTGGTCCTTGTCTTTGCCCTCTGCTGGCTTCCCCTTCACCTCAGCA 13 - 77372711-77372760 13q22.3b "Homo sapiens endothelin receptor type B (EDNRB), transcript variant 1, mRNA." The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8810293] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8810293] [evidence TAS] "The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo [goid 1755] [evidence IEA]; Any process that modulates the internal pH of an organism, part of an organism or a cell, measured by the concentration of the hydrogen ion [goid 6885] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of adenylate cyclase activity [goid 7194] [pmid 9556633] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by the activation of phospholipase C and the subsequent release of inositol trisphosphate [goid 7200] [pmid 9556633] [evidence TAS]; The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands [goid 7422] [evidence IEA]; The process whose specific outcome is the progression of the posterior midgut over time, from its formation to the mature structure [goid 7497] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; The process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure [goid 8217] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a melanocyte [goid 30318] [evidence IEA]; The deposition of coloring matter in an organism, tissue or cell, occurring during development [goid 48066] [evidence IEA]; The movement of a macrophage in response to an external stimulus [goid 48246] [pmid 12207323] [evidence IMP]" A G-protein coupled receptor that binds all endothelin molecules with approximately equal affinity [goid 1600] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] ABCDS; HSCR2; ETRB; HSCR; ETB ABCDS; HSCR2; ETRB; HSCR; ETB Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_13626 ILMN_13626 EMD NM_000117.1 NM_000117.1 2010 4557552 NM_000117.1 EMD NP_000108.1 ILMN_1801421 3140670 S 995 AGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTG X + 153262923-153262972 Xq28g "Homo sapiens emerin (Emery-Dreifuss muscular dystrophy) (EMD), mRNA." "The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 18029348] [evidence IDA]; Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space [goid 31965] [pmid 18029348] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope [goid 5637] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 18029348] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 7894480] [evidence TAS]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 8589715] [evidence TAS]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 7894480] [evidence TAS]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15009215] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16169070] [evidence IPI] STA; EDMD STA; EDMD Receptor -> Cytokine receptor -> TGF-beta receptor Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein serine/threonine kinase signaling pathway;Developmental processes -> Mesoderm development -> Angiogenesis;Developmental processes -> Mesoderm development -> Heart development;Oncogenesis -> Other oncogenesis Homo sapiens RefSeq ILMN_18184 ILMN_18184 ENG NM_000118.1 NM_000118.1 2022 4557554 NM_000118.1 ENG NP_000109.1 ILMN_1760778 4610753 S 2700 GCCCAGGAGACAGACCACTTGCCACGCTGTTGTAAAAACCCAAGTCCCTG 9 - 129617495-129617544 9q34.11a "Homo sapiens endoglin (Osler-Rendu-Weber syndrome 1) (ENG), mRNA." "Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7894484] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels [goid 1525] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; The flow of blood through the body of an animal, enabling the transport of O2 and nutrients to the tissues and the removal of waste products [goid 8015] [pmid 7894484] [evidence TAS]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [pmid 10348742] [evidence TAS]; Any process that modulates the frequency, rate or extent of activity of any TGF-beta receptor signaling pathway [goid 17015] [pmid 15702480] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of BMP signaling pathway activity [goid 30513] [pmid 17068149] [evidence IDA]; Any process that modulates the frequency, rate or extent of the synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 45449] [pmid 15702480] [evidence IMP]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15702480] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9872992] [evidence IPI] ORW; CD105; HHT1; END; FLJ41744; ORW1 ORW; CD105; HHT1; END; FLJ41744; ORW1 Transferase -> Acyltransferase;Transferase -> Other transferase Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_14908 ILMN_14908 EPB42 NM_000119.1 NM_000119.1 2038 4557558 NM_000119.1 EPB42 NP_000110.1 ILMN_1814397 5690187 S 2466 CCGTTCAGTGTGGCCTGAAAACACCATGTGTGCCAAGTTCCAGTTCACGC 15 - 41276900-41276949 15q15.2b "Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 1350227] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 1350227] [evidence TAS]" "The formation of a covalent cross-link between or within protein chains [goid 18149] [evidence IEA]; The formation of a covalent cross-link between or within protein chains [goid 18149] [evidence IEA]; Any process that modulates the surface configuration of a cell [goid 8360] [evidence IEA]; The formation of a covalent cross-link between or within protein chains [goid 18149] [evidence IEA]; A developmental process, independent of morphogenetic (shape) change, that is required for an erythrocyte to attain its fully functional state [goid 43249] [evidence IEA]" "Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links [goid 3810] [evidence IEA]; Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links [goid 3810] [evidence IEA]; Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links [goid 3810] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a cytoskeletal structure [goid 5200] [pmid 1350227] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12970870] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 8608138] [evidence TAS]" MGC116735; PA; MGC116737 MGC116735; PA; MGC116737 Hydrolase -> Other hydrolase Lipid, fatty acid and steroid metabolism -> Lipid metabolism;Immunity and defense -> Detoxification Homo sapiens RefSeq ILMN_5212 ILMN_5212 EPHX1 NM_000120.2 NM_000120.2 2052 4557560 NM_000120.2 EPHX1 NP_000111.1 ILMN_1701025 6900563 S 1538 CTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGC 1 + 224099566-224099615 1q42.12c "Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), mRNA." "Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxin stimulus [goid 9636] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxin stimulus [goid 9636] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring [goid 19439] [evidence IEA]" "Catalysis of the reaction: an epoxide + H2O = a glycol [goid 4301] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: an epoxide + H2O = a glycol [goid 4301] [pmid 7516776] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: cis-stilbene oxide + H2O = (+)-(1R,2R)-1,2-diphenylethane-1,2-diol [goid 33961] [evidence IEA]" EPOX; MEH; EPHX EPOX; EPHX; MEH Receptor -> Cytokine receptor -> Other cytokine receptor Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway Homo sapiens RefSeq ILMN_19152 ILMN_19152 EPOR NM_000121.2 NM_000121.2 2057 4557561 NM_000121.2 EPOR NP_000112.1 ILMN_2168347 3310242 S 1700 CTCAGAGAACCAGTGCAGACTCAAGACTTATGGAACAGGGATGGCGAGGC 19 - 11349573-11349622 19p13.2b "Homo sapiens erythropoietin receptor (EPOR), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 1848667] [evidence TAS] "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 1668606] [evidence NAS]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]" Combining with erythropoietin to initiate a change in cell activity [goid 4900] [pmid 2163696] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11781573] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15644415] [evidence IPI] MGC138358 MGC138358 Nucleic acid binding -> Helicase -> DNA helicase;Hydrolase Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair Homo sapiens RefSeq ILMN_17573 ILMN_17573 ERCC3 NM_000122.1 NM_000122.1 2071 4557562 NM_000122.1 ERCC3 NP_000113.1 ILMN_1740216 6840040 S 2380 ACTCATCGCGGAGCAAGGCGCCCAGCAAACATGTACACCCGCTCTTCAAG 2 - 127731656-127731705 2q14.3d "Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 8663148] [evidence TAS]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9790902] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 8946909] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 1939271] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10214908] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11313499] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12393749] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12646563] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 2449431] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9512541] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9582279] [evidence EXP]; A complex that contains kinase activity directed towards the C-terminal Domain (CTD) of the largest subunit of RNA polymerase II and is essential for initiation at RNA polymerase II promoters in vitro. In S. cerevisiae, it is composed of the 5-subunit core (Rad3p, Tfb1p, Tfb2p, Ssl1p and Tfb4p), Ssl2p, and TFIIK (Kin28p, Ccl1p, and Tfb3p). All of the subunits have equivalents in humans: the 5 subunit core is composed of XPD, p62, p55, p44, p34; the equivalent of the TFIIK subcomplex is composed of MO15, Mat1, and a cyclin; the human equivalent of Ssl2p is XPB [goid 5675] [pmid 8692842] [evidence IDA]; A complex that contains kinase activity directed towards the C-terminal Domain (CTD) of the largest subunit of RNA polymerase II and is essential for initiation at RNA polymerase II promoters in vitro. In S. cerevisiae, it is composed of the 5-subunit core (Rad3p, Tfb1p, Tfb2p, Ssl1p and Tfb4p), Ssl2p, and TFIIK (Kin28p, Ccl1p, and Tfb3p). All of the subunits have equivalents in humans: the 5 subunit core is composed of XPD, p62, p55, p44, p34; the equivalent of the TFIIK subcomplex is composed of MO15, Mat1, and a cyclin; the human equivalent of Ssl2p is XPB [goid 5675] [pmid 7663514] [evidence TAS]" "A point in the eukaryotic cell cycle where progress through the cycle can be halted until conditions are suitable for the cell to proceed to the next stage [goid 75] [pmid 17088560] [evidence IMP]; The unwinding, or local denaturation, of the DNA duplex to create a bubble around the site of the DNA damage [goid 717] [pmid 17466626] [evidence IMP]; The removal of the oligonucleotide that contains the DNA damage. The oligonucleotide is formed by dual incisions that flank the site of DNA damage [goid 718] [pmid 10583946] [evidence EXP]; The process by which a transformation is induced in the topological structure of a double-stranded DNA helix, resulting in a change in linking number [goid 6265] [pmid 8663148] [evidence IMP]; The preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the general nucleotide excision repair pathway [goid 6283] [pmid 8663148] [evidence IDA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process involved in starting transcription from the RNA polymerase II promoter [goid 6367] [pmid 8946909] [evidence EXP]; The extension of an RNA molecule after transcription initiation at an RNA polymerase II-specific promoter by the addition of ribonucleotides catalyzed by RNA polymerase II [goid 6368] [pmid 9405375] [evidence EXP]; A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [pmid 16914395] [evidence IDA]; A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [pmid 8675009] [evidence IMP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [pmid 17614221] [evidence IMP]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; Any process by which a protein is transported to, or maintained in, a specific location [goid 8104] [pmid 17509950] [evidence IMP]; Any process by which an organism or cell protects itself from ultraviolet radiation (UV), which may also result in resistance to repeated exposure to UV [goid 9650] [evidence IEA]; A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound [goid 33683] [pmid 17466626] [evidence IMP]; A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound [goid 33683] [pmid 8692841] [evidence IMP]; The process whereby a relatively unspecialized cell acquires specialized features of a hair cell [goid 35315] [pmid 11335038] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [pmid 8692841] [evidence IDA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with damaged DNA [goid 3684] [pmid 2167179] [evidence NAS]; Catalysis of the reaction: ATP + H2O = ADP + phosphate, driving the unwinding of the DNA helix [goid 4003] [evidence IEA]; Catalysis of the reaction: NTP + H2O = NDP + phosphate to drive the unwinding of a DNA or RNA helix [goid 4386] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 10801852] [evidence IPI]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 17466626] [evidence IPI]; Interacting selectively with a transcription factor, any protein required to initiate or regulate transcription [goid 8134] [pmid 9173976] [evidence IDA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [pmid 17466626] [evidence IDA]; Catalysis of the unwinding of the DNA helix in the direction 3' to 5' [goid 43138] [pmid 8663148] [evidence IMP]; Catalysis of the unwinding of the DNA helix in the direction 3' to 5' [goid 43138] [pmid 17466626] [evidence IDA]; Interacting selectively with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 47485] [pmid 8652557] [evidence IPI]" RAD25; XPB; BTF2; TFIIH; GTF2H BTF2; TFIIH; GTF2H; RAD25; XPB Nucleic acid binding -> Nuclease -> Endodeoxyribonuclease;Nucleic acid binding -> Single-stranded DNA-binding protein Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair Homo sapiens RefSeq ILMN_13388 ILMN_13388 ERCC5 NM_000123.2 NM_000123.2 2073 51988899 NM_000123.2 ERCC5 NP_000114.2 ILMN_1795495 5820343 S 3829 CGCAGAACTCAGTGAAGGAAGCTCCCGTGAAGAATGGAGGTGCGACCACC 13 + 102326079-102326128 13q33.1b "Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) (ERCC5), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 8710877] [evidence IDA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11313499] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10214908] [evidence EXP]; A complex that contains kinase activity directed towards the C-terminal Domain (CTD) of the largest subunit of RNA polymerase II and is essential for initiation at RNA polymerase II promoters in vitro. In S. cerevisiae, it is composed of the 5-subunit core (Rad3p, Tfb1p, Tfb2p, Ssl1p and Tfb4p), Ssl2p, and TFIIK (Kin28p, Ccl1p, and Tfb3p). All of the subunits have equivalents in humans: the 5 subunit core is composed of XPD, p62, p55, p44, p34; the equivalent of the TFIIK subcomplex is composed of MO15, Mat1, and a cyclin; the human equivalent of Ssl2p is XPB [goid 5675] [pmid 11259578] [evidence IDA]" "In nucleotide excision repair a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts) [goid 6289] [evidence IEA]; The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [evidence IEA]; The removal of the oligonucleotide that contains the DNA damage. The oligonucleotide is formed by dual incisions that flank the site of DNA damage [goid 718] [pmid 10583946] [evidence EXP]; The preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the general nucleotide excision repair pathway [goid 6283] [pmid 16246722] [evidence IMP]; The endonucleolytic cleavage of the damaged strand of DNA 3' to the site of damage. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. The incision precedes the incision formed 5' to the site of damage [goid 6295] [pmid 7657672] [evidence IMP]; The endonucleolytic cleavage of the damaged strand of DNA 3' to the site of damage. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. The incision precedes the incision formed 5' to the site of damage [goid 6295] [pmid 8090225] [evidence IDA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; The control of viability and duration in the adult phase of the life-cycle [goid 8340] [evidence IEA]; Any process by which an organism or cell protects itself from ultraviolet radiation (UV), which may also result in resistance to repeated exposure to UV [goid 9650] [pmid 7510366] [evidence IGI]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a UV-C radiation stimulus. UV-C radiation (UV-C light) spans the wavelengths 100 to 290 nm [goid 10225] [pmid 17208056] [evidence IMP]; The increase in size or mass of an entire multicellular organism, as opposed to cell growth [goid 35264] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [pmid 16167068] [evidence IMP]" "Interacting selectively with single-stranded DNA [goid 3697] [evidence IEA]; Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks [goid 4519] [evidence IEA]; Catalysis of the hydrolysis of ester linkages within nucleic acids [goid 4518] [evidence IEA]; Interacting selective with DNA that contains a bubble. A bubble occurs when DNA contains a region of unpaired, single-stranded DNA flanked on both sides by regions of paired, double-stranded DNA [goid 405] [pmid 16246722] [evidence IDA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with double-stranded DNA [goid 3690] [pmid 8090225] [evidence IDA]; Interacting selectively with double-stranded DNA [goid 3690] [pmid 12644470] [evidence IDA]; Interacting selectively with single-stranded DNA [goid 3697] [pmid 12644470] [evidence IDA]; Catalysis of the hydrolysis of ester linkages within deoxyribonucleic acid by creating internal breaks [goid 4520] [pmid 12644470] [evidence IDA]; Catalysis of the hydrolysis of ester linkages within deoxyribonucleic acid by creating internal breaks [goid 4520] [pmid 8090225] [evidence IDA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 10026181] [evidence IPI]; Interacting selectively with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 47485] [pmid 8652557] [evidence IPI]" XPG; ERCM2; UVDR; XPGC; COFS3 XPG; ERCM2; UVDR; XPGC; COFS3 Nucleic acid binding -> Helicase -> DNA helicase Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair Homo sapiens RefSeq ILMN_20934 ILMN_20934 ERCC6 NM_000124.1 NM_000124.1 2074 4557564 NM_000124.1 ERCC6 NP_000115.1 ILMN_1786882 520168 S 4350 ACGATGACCTTCTGGTGGAGATGAGAAACTTCATCGCTTTCCAGGCCCAC 10 - 50337028-50337077 10q11.23a "Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [pmid 16916636] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 12560492] [evidence IDA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 16107709] [evidence IDA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11313499] [evidence EXP]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 16107709] [evidence IDA]; Any protein complex that interacts with RNA polymerase II to increase (positive transcription elongation factor) or reduce (negative transcription elongation factor) the rate of transcription elongation [goid 8023] [pmid 9326587] [evidence IDA]" "A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a superoxide stimulus. Superoxide is the anion, oxygen-, formed by addition of one electron to dioxygen (O2) or any compound containing the superoxide anion [goid 303] [evidence IEA]; The preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the general nucleotide excision repair pathway [goid 6283] [pmid 10564257] [evidence IMP]; The preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the general nucleotide excision repair pathway [goid 6283] [pmid 16916636] [evidence IMP]; In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase [goid 6284] [pmid 9973627] [evidence IMP]; The repair of UV-induced T-T, C-T and C-C dimers [goid 6290] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 7664335] [evidence NAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [pmid 16107709] [evidence IDA]; The initiation of the activity of the inactive enzyme JUN kinase kinase (JNKK) activity in response to phosphorylation by a member of the JUN kinase kinase kinase (JNKKK) family, or another upstream kinase. JNKKs are involved in a signaling pathway that is primarily activated by cytokines and exposure to environmental stress [goid 7256] [evidence IEA]; The initiation of the activity of the inactive enzyme JUN kinase by phosphorylation by a JUN kinase kinase (JNKK) [goid 7257] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; A cascade of processes initiated by the detection of DNA damage and resulting in the induction of apoptosis (programmed cell death) [goid 8630] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxin stimulus [goid 9636] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz) [goid 10165] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a UV-B radiation stimulus. UV-B radiation (UV-B light) spans the wavelengths 290 to 320 nm [goid 10224] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum [goid 10332] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of RNA elongation, the extension of an RNA molecule after transcription initiation by the addition of ribonucleotides catalyzed by an RNA polymerase [goid 32786] [pmid 9326587] [evidence IDA]; Any process preventing the degeneration of the photoreceptor, a specialized cell type that is sensitive to light [goid 45494] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 16107709] [evidence IDA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 12560492] [evidence IDA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 8999876] [evidence IDA]; Catalysis of the reaction: NTP + H2O = NDP + phosphate to drive the unwinding of a DNA helix [goid 3678] [pmid 8999876] [evidence IDA]; Interacting selectively with chromatin, the network of fibers of DNA and protein that make up the chromosomes of the eukaryotic nucleus during interphase [goid 3682] [pmid 16916636] [evidence IDA]; Any activity that modulates the rate of transcription elongation, the addition of ribonucleotides to an RNA molecule following transcription initiation [goid 3711] [pmid 9326587] [evidence IDA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 16107709] [evidence IDA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 12560492] [evidence IDA]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 16246722] [evidence IPI]; Catalysis of the reaction: ATP + H2O = ADP + phosphate in the presence of single- or double-stranded DNA; drives another reaction [goid 8094] [pmid 12560492] [evidence IDA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate in the presence of single- or double-stranded DNA; drives another reaction [goid 8094] [pmid 8999876] [evidence IDA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate in the presence of single- or double-stranded DNA; drives another reaction [goid 8094] [pmid 16107709] [evidence IDA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with any protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 32403] [pmid 16916636] [evidence IDA]; Interacting selectively with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 47485] [pmid 7664335] [evidence IPI]" CSB; COFS1; COFS; ARMD5; RAD26; CKN2 CSB; COFS1; COFS; ARMD5; RAD26; CKN2 Receptor -> Nuclear hormone receptor;Transcription factor -> Nuclear hormone receptor;Nucleic acid binding Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Signal transduction -> Cell communication -> Steroid hormone-mediated signaling;Neuronal activities -> Other neuronal activity;Developmental processes -> Gametogenesis -> Oogenesis;Cell cycle -> Cell cycle control;Cell cycle -> Mitosis;Cell proliferation and differentiation;Cell structure and motility -> Cell motility Homo sapiens RefSeq ILMN_15142 ILMN_15142 ESR1 NM_000125.2 NM_000125.2 2099 62821793 NM_000125.2 ESR1 NP_000116.2 ILMN_1678535 3360095 S 6041 GCTGTGCACCCTAGAAACAACATATTGTCCCATGAGCAGGTGCCTGAGAC 6 + 152465685-152465734 6q25.1c "Homo sapiens estrogen receptor 1 (ESR1), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 18029348] [evidence IDA]; Any complex that mediates dynamic changes in eukaryotic chromatin [goid 16585] [pmid 12351687] [evidence NAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence NAS]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 18029348] [evidence IDA]" "Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 3753802] [evidence NAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10970861] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10749889] [evidence TAS]; Any series of molecular signals generated as a consequence of an estrogen binding to its receptor [goid 30520] [pmid 3753802] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of retinoic acid receptor signaling pathway activity [goid 48386] [pmid 15831516] [evidence IDA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence NAS]" "The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene [goid 5496] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Modulates the activity of nitric oxide synthase [goid 30235] [pmid 12389206] [evidence NAS]; Combining with estrogen to initiate a change in cell activity [goid 30284] [pmid 3753802] [evidence NAS]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 47485] [pmid 12917342] [evidence IPI]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Combining with a steroid hormone to initiate a change in cell activity [goid 3707] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene [goid 5496] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Combining with a steroid hormone to initiate a change in cell activity [goid 3707] [pmid 11004670] [evidence NAS]; Interacting selectively with a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene [goid 5496] [evidence IEA]" major ORF; ESR; Era; ER; NR3A1; ESRA; DKFZp686N23123 major ORF; ESR; Era; ER; NR3A1; ESRA; DKFZp686N23123 Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_138729 ILMN_37255 ETFA NM_000126.2 NM_000126.2 2108 89903004 NM_000126.2 ETFA NP_000117.1 ILMN_1718924 4780743 S 816 TGGTGCTTCCCGTGCTGCTGTTGATGCTGGCTTTGTTCCCAATGACATGC 15 - 74353839-74353888 15q24.2a "Homo sapiens electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) (ETFA), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 3170610] [evidence TAS]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 8617498] [evidence TAS]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; A process whereby a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient [goid 22900] [evidence IEA]" "Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [pmid 8617498] [evidence TAS]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [evidence IEA]" GA2; MADD; EMA GA2; MADD; EMA Transferase -> Glycosyltransferase Carbohydrate metabolism -> Other polysaccharide metabolism;Protein metabolism and modification -> Protein modification -> Protein glycosylation Homo sapiens RefSeq ILMN_18298 ILMN_18298 EXT1 NM_000127.2 NM_000127.2 2131 46370065 NM_000127.2 EXT1 NP_000118.2 ILMN_2129927 4220431 S 2855 CCCTGACCACTTTGCCCAGCGACAGAGCTGCATGAATACGTTTGCCAGCT 8 - 118881241-118881290 8q24.11b "Homo sapiens exostoses (multiple) 1 (EXT1), mRNA." "The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 10878610] [evidence TAS]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [pmid 10639137] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 9620772] [evidence TAS]; Penetrating at least one phospholipid bilayer of an endoplasmic reticulum membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 30176] [evidence ISS]" "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 9620772] [evidence TAS]; The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance [goid 1503] [pmid 7550340] [evidence IMP]; The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars [goid 6024] [pmid 10639137] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10878610] [evidence TAS]; The chemical reactions and pathways resulting in the formation of polysaccharide chain component of heparan sulfate proteoglycan [goid 15014] [pmid 17761672] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]" "Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]; Catalysis of the reaction: UDP-N-acetyl-D-glucosamine + heparan sulfate = UDP + (N-acetyl-D-glucosaminyl)-heparan sulfate [goid 42328] [pmid 12907669] [evidence NAS]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 12907669] [evidence IDA]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 12907669] [evidence IPI]; Catalysis of the reaction: beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan + UDP-N-acetyl-D-glucosamine = N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan + UDP [goid 50508] [evidence ISS]; Catalysis of the reaction: N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-proteoglycan + UDP-alpha-D-glucuronate = beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-proteoglycan + UDP [goid 50509] [evidence ISS]" ttv; EXT EXT; ttv Protease -> Serine protease Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_13445 ILMN_170709 F11 NM_000128.3 NM_000128.3 2160 116805318 NM_000128.3 F11 NP_000119.1 ILMN_1807101 4480114 A 1936 GCCAAGATACCCTTAGTGACCAACGAAGAGTGCCAGAAGAGATACAGAGG 4 + 187445858-187445907 4q35.2a "Homo sapiens coagulation factor XI (F11), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 9593722] [evidence NAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [pmid 9593722] [evidence NAS]" "The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 9593722] [evidence NAS]" "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 9593722] [evidence NAS]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" FXI; MGC141891 FXI; MGC141891 Protease -> Serine protease Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_13445 ILMN_170709 F11 NM_000128.3 NM_000128.3 2160 116805318 NM_000128.3 F11 NP_000119.1 ILMN_1764061 20180 I 768 CTGCCACTTTTTCACGTACGCCACAAGGCAGTTTCCCAGCCTGGAGCATC 4 + 187432373-187432422 4q35.2a "Homo sapiens coagulation factor XI (F11), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 9593722] [evidence NAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [pmid 9593722] [evidence NAS]" "The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 9593722] [evidence NAS]" "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 9593722] [evidence NAS]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" FXI; MGC141891 FXI; MGC141891 Transferase -> Other transferase Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_9687 ILMN_9687 F13A1 NM_000129.3 NM_000129.3 2162 119395708 NM_000129.3 F13A1 NP_000120.2 ILMN_1717163 2230241 S 3243 GCTGGCGGATCTAGTGACCAGATATATAGAAGGACTGCAGCCACTGATTC 6 - 6089880-6089929 6p25.1a "Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2866798] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2877457] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The formation of a covalent cross-link between or within protein chains [goid 18149] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 10801785] [evidence TAS]; The formation of a covalent cross-link between or within protein chains [goid 18149] [evidence IEA]; The formation of a covalent cross-link between or within protein chains [goid 18149] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [evidence IEA]; The formation of a covalent cross-link between or within protein chains [goid 18149] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [evidence IEA]; The formation of a covalent cross-link between or within protein chains [goid 18149] [evidence IEA]" "Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links [goid 3810] [pmid 2877456] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links [goid 3810] [evidence IEA]; Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links [goid 3810] [evidence IEA]" F13A F13A Protease -> Serine protease Protein metabolism and modification -> Proteolysis;Signal transduction;Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_3987 ILMN_174093 F5 NM_000130.4 NM_000130.4 2153 119395710 NM_000130.4 F5 NP_000121.2 ILMN_1709233 7610767 S 6413 TCTTGGTGGGGAGATTACTGGGAACCCTTCCGTGCCCGTCTGAATGCCCA 1 - 167754301-167754350 1q24.2b "Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14982929] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 6946465] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2538457] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3052293] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3052293] [evidence EXP]; The volume enclosed by the membrane of the platelet alpha granule [goid 31093] [pmid 6946465] [evidence EXP] "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 9252393] [evidence TAS]" "Interacting selectively with copper (Cu) ions [goid 5507] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with copper (Cu) ions [goid 5507] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]" PCCF; factor V; FVL PCCF; factor V; FVL Protease -> Serine protease Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_4095 ILMN_164898 F7 NM_000131.3 NM_000131.3 2155 116805320 NM_000131.3 F7 NP_000122.1 ILMN_1740559 780100 A 2387 GCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAAC 13 + 112822258-112822307 13q34c "Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8639673] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8598903] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3527261] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3037537] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8598903] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3527261] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2271516] [evidence EXP] The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; A pathway of blood coagulation in which the earlier stages of the cascade are bypassed and the activation of factor X to factor Xa is effected by the combination of factor VIIa + thromboplastin; this second pathway occurs when tissue extracts are present in optimal amounts and is much more rapid than the intrinsic pathway [goid 7598] [pmid 7598447] [evidence EXP] "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 3037537] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 18267072] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" Protease -> Serine protease Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_164898 ILMN_164898 F7 NM_000131.3 NM_000131.3 2155 116805320 NM_000131.3 F7 NP_000122.1 ILMN_2267025 6650170 I 127 AAGGCCTCAGGAGGAGAAACACGGGACATGCCGTGGAAGCCGGGGCCTCA 13 + 112809171-112809220 13q34c "Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8639673] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8598903] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3527261] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3037537] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8598903] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3527261] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2271516] [evidence EXP] The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; A pathway of blood coagulation in which the earlier stages of the cascade are bypassed and the activation of factor X to factor Xa is effected by the combination of factor VIIa + thromboplastin; this second pathway occurs when tissue extracts are present in optimal amounts and is much more rapid than the intrinsic pathway [goid 7598] [pmid 7598447] [evidence EXP] "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 3037537] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 18267072] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" Protease -> Serine protease Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_164898 ILMN_164898 F7 NM_000131.3 NM_000131.3 2155 116805320 NM_000131.3 F7 NP_000122.1 ILMN_2358265 3190280 A 3001 ACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGA 13 + 112822872-112822921 13q34c "Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8639673] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8598903] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3527261] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3037537] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8598903] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3527261] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2271516] [evidence EXP] The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; A pathway of blood coagulation in which the earlier stages of the cascade are bypassed and the activation of factor X to factor Xa is effected by the combination of factor VIIa + thromboplastin; this second pathway occurs when tissue extracts are present in optimal amounts and is much more rapid than the intrinsic pathway [goid 7598] [pmid 7598447] [evidence EXP] "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 3037537] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 18267072] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" Protease -> Serine protease Protein metabolism and modification -> Proteolysis;Signal transduction;Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_30362 ILMN_30362 F8 NM_000132.2 NM_000132.2 2157 10518504 NM_000132.2 F8 NP_000123.1 ILMN_1691584 5670632 I 6465 GATTATTCACGGCATCAAGACCCAGGGTGCCCGTCAGAAGTTCTCCAGCC X - 153777631-153777680 Xq28g "Homo sapiens coagulation factor VIII, procoagulant component (hemophilia A) (F8), transcript variant 1, mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8626656] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 501196] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8626656] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2110473] [evidence EXP]; The volume enclosed by the membrane of the platelet alpha granule [goid 31093] [pmid 501196] [evidence EXP] "Process involving non-antibody proteins whose concentrations in the plasma increase in response to infection or injury of homeothermic animals [goid 6953] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 8275087] [evidence TAS]" "Interacting selectively with copper (Cu) ions [goid 5507] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with copper (Cu) ions [goid 5507] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with copper (Cu) ions [goid 5507] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 7756647] [evidence IPI]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]" FVIII; F8 protein; HEMA; F8C; AHF; DXS1253E; F8B FVIII; F8 protein; HEMA; F8C; AHF; DXS1253E; F8B Oxidoreductase;Protease -> Serine protease;Defense/immunity protein;Select calcium binding protein -> Calmodulin related protein;Select calcium binding protein -> Annexin Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_7077 ILMN_7077 F9 NM_000133.2 NM_000133.2 2158 10518507 NM_000133.2 F9 NP_000124.1 ILMN_1810651 7560372 S 2522 TCAGCAGTGTTCAGAGCCAAGCAAGAAGTTGAAGTTGCCTAGACCAGAGG X + 138473003-138473052 Xq27.1b "Homo sapiens coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B) (F9), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8626656] [evidence EXP]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8626656] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2110473] [evidence EXP]" The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; A pathway of blood coagulation in which the earlier stages of the cascade are bypassed and the activation of factor X to factor Xa is effected by the combination of factor VIIa + thromboplastin; this second pathway occurs when tissue extracts are present in optimal amounts and is much more rapid than the intrinsic pathway [goid 7598] [pmid 7598447] [evidence EXP] "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 2472424] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" HEMB; MGC129642; MGC129641; GLA domain; PTC; FIX MGC129641; HEMB; MGC129642; GLA domain; PTC; FIX Transfer/carrier protein -> Other transfer/carrier protein Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport;Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid binding;Coenzyme and prosthetic group metabolism -> Vitamin/cofactor transport;Transport -> Vitamin/cofactor transport;Signal transduction -> Cell communication -> Steroid hormone-mediated signaling;Developmental processes -> Ectoderm development Homo sapiens RefSeq ILMN_18268 ILMN_18268 FABP2 NM_000134.2 NM_000134.2 2169 10938019 NM_000134.2 FABP2 NP_000125.1 ILMN_1740479 3710091 S 2137 TGTACATTATTCAGGGGGTGATGGTTACAGCCCAGACTTTACCACTATGC 4 - 120457917-120457966 4q26f "Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism [goid 7586] [pmid 7883976] [evidence TAS]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Interacting selectively with fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis [goid 5504] [pmid 2824476] [evidence TAS]" FABPI; MGC133132; I-FABP FABPI; MGC133132; I-FABP Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_7097 ILMN_7097 FANCA NM_000135.2 NM_000135.2 2175 66880552 NM_000135.2 FANCA NP_000126.2 ILMN_1799224 770398 I 5013 ACTGGAACCCACAGACCTCACACCTGGGGGACAGAGGCAGATAAGAAGGT 16 - 88331857-88331906 16q24.3b "Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9398857] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9398857] [evidence TAS]" "The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [pmid 8896564] [evidence TAS]; The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 9398857] [evidence TAS]; Progression through the nuclear division phase of a meiotic cell cycle in the male germline [goid 7140] [evidence IEA]; The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure [goid 8584] [evidence IEA]; The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure [goid 8585] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell proliferation [goid 42127] [evidence IEA]; Progression through the nuclear division phase of a meiotic cell cycle in the male germline [goid 7140] [evidence IEA]; The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure [goid 8584] [evidence IEA]; The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure [goid 8585] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell proliferation [goid 42127] [evidence IEA]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12571280] [evidence IPI] FAA; FA; FA1; MGC75158; FACA; FAH; FA-H; FANCH FAA; FA; FA1; MGC75158; FACA; FAH; FA-H; FANCH Molecular function unclassified Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair;Protein metabolism and modification -> Protein complex assembly;Cell cycle -> Cell cycle control Homo sapiens RefSeq ILMN_4009 ILMN_174507 FANCC NM_000136.2 NM_000136.2 2176 56118235 NM_000136.2 FANCC NP_000127.2 ILMN_1683112 2190047 S 4425 CCACTACCCTCAGAGAGAGCCAAAAATACAGAAGAGGCGGAGAGCGCCCC 9 - 96901274-96901323 9q22.32b "Homo sapiens Fanconi anemia, complementation group C (FANCC), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9398857] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9398857] [evidence TAS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9596688] [evidence IDA]" "The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus [goid 2262] [evidence IEA]; In nucleotide excision repair a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts) [goid 6289] [evidence IEA]; The process whose specific outcome is the progression of the immature germ cell over time, from its formation to the mature structure (gamete) [goid 7281] [evidence IEA]; Any process involved in removing superoxide radicals (O2-) from a cell or organism, e.g. by conversion to dioxygen (O2) and hydrogen peroxide (H2O2) [goid 19430] [evidence IEA]; The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus [goid 2262] [evidence IEA]; In nucleotide excision repair a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts) [goid 6289] [evidence IEA]; The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 9398857] [evidence TAS]; The process whose specific outcome is the progression of the immature germ cell over time, from its formation to the mature structure (gamete) [goid 7281] [evidence IEA]; Any process involved in removing superoxide radicals (O2-) from a cell or organism, e.g. by conversion to dioxygen (O2) and hydrogen peroxide (H2O2) [goid 19430] [evidence IEA]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9596688] [evidence IPI] FLJ14675; FA3; FACC; FAC FLJ14675; FA3; FACC; FAC Hydrolase -> Other hydrolase Amino acid metabolism -> Amino acid catabolism Homo sapiens RefSeq ILMN_1400 ILMN_1400 FAH NM_000137.1 NM_000137.1 2184 4557586 NM_000137.1 FAH NP_000128.1 ILMN_1781536 4060471 S 1133 CGGCTCCATGTTGGAACTGTCGTGGAAGGGAACGAAGCCCATAGACCTGG 15 + 78260453-78260502 15q25.1b "Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA." That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8364576] [evidence EXP] "The chemical reactions and pathways resulting in the breakdown of arginine, 2-amino-5-(carbamimidamido)pentanoic acid [goid 6527] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of phenylalanine, 2-amino-3-phenylpropanoic acid [goid 6559] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid [goid 6572] [pmid 9305902] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan) [goid 9072] [evidence IEA]" "Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: 4-fumarylacetoacetate + H2O = acetoacetate + fumarate [goid 4334] [pmid 1998338] [evidence TAS]; Catalysis of the reaction: 4-fumarylacetoacetate + H2O = acetoacetate + fumarate [goid 4334] [pmid 8364576] [evidence EXP]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" Cell adhesion molecule;Extracellular matrix -> Extracellular matrix structural protein;Extracellular matrix -> Extracellular matrix glycoprotein;Select calcium binding protein -> Annexin Signal transduction -> Cell communication;Sensory perception -> Vision;Developmental processes -> Mesoderm development -> Skeletal development Homo sapiens RefSeq ILMN_4226 ILMN_4226 FBN1 NM_000138.3 NM_000138.3 2200 93589095 NM_000138.3 FBN1 NP_000129.2 ILMN_1783182 4480593 S 9857 GTTTACCCCTTGGCTTTGTGTTCTTGCATGGATTTGGGGTTGGAGGGGCC 15 - 46489516-46489565 15q21.1d "Homo sapiens fibrillin 1 (FBN1), mRNA." "Extracellular matrix components occurring independently or along with elastin. Thought to have force-bearing functions in tendon. In addition to fibrillins, microfibrils may contain other associated proteins [goid 1527] [pmid 1860873] [evidence IDA]; Extracellular matrix components occurring independently or along with elastin. Thought to have force-bearing functions in tendon. In addition to fibrillins, microfibrils may contain other associated proteins [goid 1527] [pmid 3536967] [evidence IDA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [pmid 3536967] [evidence IDA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 3536967] [evidence IDA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]" "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 8188302] [evidence IMP]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [pmid 15781745] [evidence IMP]" The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [pmid 10931876] [evidence TAS]; The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [pmid 3536967] [evidence IDA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 7691719] [evidence IDA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 8188302] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15165854] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA] FBN; WMS; MFS1; OCTD; MASS; SGS FBN; MASS; WMS; MFS1; OCTD; SGS Receptor -> Immunoglobulin receptor family member;Defense/immunity protein -> Immunoglobulin receptor family member Signal transduction -> Cell surface receptor mediated signal transduction;Immunity and defense -> B-cell- and antibody-mediated immunity;Immunity and defense -> Other immune and defense;Immunity and defense -> Granulocyte-mediated immunity Homo sapiens RefSeq ILMN_18276 ILMN_18276 MS4A2 NM_000139.2 NM_000139.2 2206 23397640 NM_000139.2 MS4A2 NP_000130.1 ILMN_1806721 2360470 S 3378 GCCCACCTCAGGCAGACACAGAGCACAATGCTGGGGTTCTCTTCACACTA 11 + 59622246-59622295 11q12.1d "Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA." "Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2448768] [evidence TAS]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A protein complex composed of an Fc-epsilon RI alpha chain and an Fc-epsilon RI gamma chain dimer with or without an Fc-episilon RI beta chain and additional signaling components. The complex functions primarily as an activating receptor for IgE [goid 32998] [evidence IEA]" "An immune response mediated through a body fluid [goid 6959] [pmid 2448768] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 9169438] [evidence TAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 2448768] [evidence TAS]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Catalysis of facilitated diffusion of a calcium (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5262] [pmid 9169438] [evidence TAS]; Interacting selectively with an immunoglobulin of the IgE isotype [goid 19863] [evidence IEA] IGHER; ATOPY; FCERI; IGEL; MS4A1; FCER1B; IGER; APY IGHER; ATOPY; FCERI; IGEL; FCER1B; IGER; MS4A1; APY Lyase -> Other lyase Coenzyme and prosthetic group metabolism -> Porphyrin metabolism Homo sapiens RefSeq ILMN_5447 ILMN_5447 FECH NM_000140.2 NM_000140.2 2235 60499020 NM_000140.2 FECH NP_000131.2 ILMN_1774091 7200315 A 3684 TGATGAGGCAGTTTAGCTTGCCAGGGTGATGATAAAGCCCAGGTCCCTGC 18 - 53366618-53366667 18q21.31b "Homo sapiens ferrochelatase (protoporphyria) (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 11175906] [evidence EXP]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors [goid 6783] [evidence IEA]; The series of events in which an ultraviolet radiation (UV light) stimulus is received by a cell and converted into a molecular signal. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers [goid 9589] [evidence IEA]; The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 1729699] [evidence TAS]; The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors [goid 6783] [pmid 1729699] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light [goid 9416] [pmid 1376018] [evidence TAS]" "Catalysis of the reaction: protoporphyrin + Fe2+ = protoheme + 2 H+ [goid 4325] [evidence IEA]; Catalysis of the reaction: protoporphyrin + Fe2+ = protoheme + 2 H+ [goid 4325] [pmid 11175906] [evidence EXP]; Catalysis of the reaction: protoporphyrin + Fe2+ = protoheme + 2 H+ [goid 4325] [pmid 2260980] [evidence TAS]; Interacting selectively with ferrous iron, Fe(II) [goid 8198] [pmid 1729699] [evidence TAS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with a 2 iron, 2 sulfur (2Fe-2S) cluster; this cluster consists of two iron atoms, with two inorganic sulfur atoms found between the irons and acting as bridging ligands [goid 51537] [evidence IEA]" FCE; EPP FCE; EPP Receptor -> Protein kinase receptor -> Tyrosine protein kinase receptor;Kinase -> Protein kinase -> Tyrosine protein kinase receptor Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Developmental processes -> Ectoderm development -> Neurogenesis;Cell proliferation and differentiation;Oncogenesis -> Other oncogenesis Homo sapiens RefSeq ILMN_22960 ILMN_22960 FGFR3 NM_000142.2 NM_000142.2 2261 13112046 NM_000142.2 FGFR3 NP_000133.1 ILMN_1651966 3370019 I 1117 GAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGCAT 4 + 1775857-1775906 4p16.3b "Homo sapiens fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) (FGFR3), transcript variant 1, mRNA." The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 11294897] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 16597617] [evidence EXP]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10918587] [evidence TAS] "Cascade of at least three protein kinase activities culminating in the phosphorylation and activation of a MAP kinase. MAPKKK cascades lie downstream of numerous signaling pathways [goid 165] [pmid 10918587] [evidence TAS]; The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 8601314] [evidence TAS]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; Any process by which STAT proteins (Signal Transducers and Activators of Transcription) are activated by members of the JAK (janus activated kinase) family of tyrosine kinases, following the binding of cytokines to their cognate receptor. Once activated, STATs dimerize and translocate to the nucleus and modulate the expression of target genes [goid 7259] [pmid 10918587] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands [goid 8543] [pmid 10918587] [evidence TAS]; The process by which a cell irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present [goid 16049] [evidence NAS]" "Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with fibroblast growth factor to initiate a change in cell activity [goid 5007] [pmid 7923141] [evidence NAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 14732692] [evidence IPI]" HSFGFR3EX; JTK4; CD333; ACH; CEK2 HSFGFR3EX; JTK4; CD333; ACH; CEK2 Lyase -> Other lyase Amino acid metabolism Homo sapiens RefSeq ILMN_5911 ILMN_5911 FH NM_000143.2 NM_000143.2 2271 19743874 NM_000143.2 FH NP_000134.2 ILMN_1719392 1780348 S 1515 GAGCAGTTTGACGAATGGGTAAAACCTAAGGACATGCTGGGTCCAAAGTG 1 - 239727751-239727800 1q43e "Homo sapiens fumarate hydratase (FH), nuclear gene encoding mitochondrial protein, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 8200987] [evidence TAS]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 8200987] [evidence TAS]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 8200987] [evidence EXP]; Any of the heteromeric enzymes that act in the TCA cycle [goid 45239] [evidence IEA]" "A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle [goid 6099] [evidence IEA]; The chemical reactions and pathways involving fumarate, the anion of trans-1,2-ethenedicarboxylic acid, the diastereoisomer of maleate. It is a key intermediate in metabolism and is formed in the TCA cycle from succinate and converted into malate [goid 6106] [pmid 8200987] [evidence TAS]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any biological process involved in the maintenance of the equilibrium of cell number within a population of cells in a tissue [goid 48873] [evidence IEA]" "Catalysis of the reaction: (S)-malate = fumarate + H2O [goid 4333] [pmid 8200987] [evidence EXP]; Catalysis of the reaction: (S)-malate = fumarate + H2O [goid 4333] [pmid 3828494] [evidence TAS]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]" MCUL1; MCL; HLRCC; LRCC MCUL1; MCL; HLRCC; LRCC Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_11911 ILMN_11911 FXN NM_000144.3 NM_000144.3 2395 31742514 NM_000144.3 FXN NP_000135.2 ILMN_1774826 6760088 A 1836 GAGAGCCCTGGTCCTAGACATAGTTCAGCCACAAAGTAGTTGTCCCTTTG 9 + 70878346-70878395 9q21.11a "Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 9241270] [evidence TAS]" "The regulation of the levels, transport, and metabolism of iron ions within a cell or between a cell and its external environment [goid 6879] [evidence IEA]; The regulation of the levels, transport, and metabolism of iron ions within a cell or between a cell and its external environment [goid 6879] [pmid 9180083] [evidence TAS]; The process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse [goid 7268] [pmid 8841185] [evidence TAS]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [pmid 8841185] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [pmid 9180083] [evidence TAS]" "Catalysis of the phosphorylation of myo-inositol (1,2,3,5/4,6-cyclohexanehexol) or a phosphatidylinositol [goid 4428] [pmid 8841185] [evidence TAS]; Catalysis of the transfer of iron (Fe) ions from one side of a membrane to the other [goid 5381] [pmid 9326946] [evidence TAS]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [pmid 9326946] [evidence TAS]" FA; X25; FRDA; FARR; MGC57199; CyaY FA; X25; FRDA; FARR; MGC57199; CyaY Receptor;Extracellular matrix Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Developmental processes -> Other developmental process Homo sapiens RefSeq ILMN_19469 ILMN_19469 FSHR NM_000145.2 NM_000145.2 2492 31657137 NM_000145.2 FSHR NP_000136.2 ILMN_2333449 5080414 A 2038 GGACAGAAACTTCATCCACTGTCCACAACACCCATCCAAGGAATGGCCAC 2 - 49043450-49043499 2p16.3c "Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA." "Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9020851] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10715554] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 9020851] [evidence TAS]" "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 9020851] [evidence TAS]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [pmid 9020851] [evidence TAS]; Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction [goid 7292] [pmid 9020851] [evidence TAS]; The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure [goid 8585] [pmid 7553856] [evidence TAS]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with follicle-stimulating hormone to initiate a change in cell activity [goid 4963] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Combining with follicle-stimulating hormone to initiate a change in cell activity [goid 4963] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with follicle-stimulating hormone to initiate a change in cell activity [goid 4963] [pmid 9020851] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15196694] [evidence IPI] MGC141668; LGR1; FSHRO; MGC141667; ODG1 MGC141667; MGC141668; LGR1; FSHRO; ODG1 Receptor;Extracellular matrix Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Developmental processes -> Other developmental process Homo sapiens RefSeq ILMN_19469 ILMN_19469 FSHR NM_000145.2 NM_000145.2 2492 31657137 NM_000145.2 FSHR NP_000136.2 ILMN_1661616 650082 I 851 AAAGCTTGTCGCCCTCATGGAAGCCAGCCTCACCTATCCCAGCCATTGCT 2 - 49049368-49049417 2p16.3c "Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA." "Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9020851] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10715554] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 9020851] [evidence TAS]" "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 9020851] [evidence TAS]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [pmid 9020851] [evidence TAS]; Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction [goid 7292] [pmid 9020851] [evidence TAS]; The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure [goid 8585] [pmid 7553856] [evidence TAS]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with follicle-stimulating hormone to initiate a change in cell activity [goid 4963] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Combining with follicle-stimulating hormone to initiate a change in cell activity [goid 4963] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with follicle-stimulating hormone to initiate a change in cell activity [goid 4963] [pmid 9020851] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15196694] [evidence IPI] MGC141668; LGR1; FSHRO; MGC141667; ODG1 MGC141667; MGC141668; LGR1; FSHRO; ODG1 Miscellaneous function -> Storage protein Transport -> Ion transport -> Cation transport;Homeostasis -> Other homeostasis activities Homo sapiens RefSeq ILMN_10967 ILMN_10967 FTL NM_000146.3 NM_000146.3 2512 56682960 NM_000146.3 FTL NP_000137.2 ILMN_1740429 4920767 S 277 GGCCTCCTACACCTACCTCTCTCTGGGCTTCTATTTCGACCGCGATGATG 19 + 54160654-54160678:54160839-54160863 19q13.33a "Homo sapiens ferritin, light polypeptide (FTL), mRNA." "A iron-storing protein complex, which in humans has 24 subunits. There are two different ferritin subunits, the L (light) chain and H (heavy) chain [goid 8043] [pmid 7492760] [evidence TAS]" "The directed movement of iron (Fe) ions into, out of, within or between cells [goid 6826] [evidence IEA]; The regulation of the levels, transport, and metabolism of iron ions within a cell or between a cell and its external environment [goid 6879] [pmid 7492760] [evidence TAS]" "Interacting selectively with ferric iron, Fe(III) [goid 8199] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 16169070] [evidence IPI]" MGC71996 MGC71996 Hydrolase -> Glycosidase Carbohydrate metabolism -> Monosaccharide metabolism;Protein metabolism and modification -> Protein modification -> Protein glycosylation Homo sapiens RefSeq ILMN_14069 ILMN_14069 FUCA1 NM_000147.3 NM_000147.3 2517 119360347 NM_000147.3 FUCA1 NP_000138.2 ILMN_1752728 2060121 S 1784 GTCACCCTGTTGCCTATGGGAGGAGGTGGAAGGATTTGGCAAGCTCAACC 1 - 24044404-24044453 1p36.11d "Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11698403] [evidence IC ]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars [goid 6027] [pmid 11698403] [evidence NAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" Catalysis of the reaction: an alpha-L-fucoside + H2O = an alcohol + L-fucose [goid 4560] [pmid 11698403] [evidence TAS]; Catalysis of the hydrolysis of any glycosyl bond [goid 16798] [evidence IEA] Transferase -> Glycosyltransferase Carbohydrate metabolism;Protein metabolism and modification -> Protein modification -> Protein glycosylation Homo sapiens RefSeq ILMN_25301 ILMN_25301 FUT1 NM_000148.2 NM_000148.2 2523 58331243 NM_000148.2 FUT1 NP_000139.1 ILMN_1712894 4850382 S 3933 GGGCAGGTCTGAGATAAAACGATCTAAAGGTAGGCAGACCCTGGACCCAG 19 - 53943343-53943392 19q13.33a "Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 2118655] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 11698403] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2118655] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [pmid 2118655] [evidence TAS]; The addition of a sugar unit to a protein amino acid, e.g. the addition of glycan chains to proteins [goid 6486] [pmid 11698403] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of L-fucose (6-deoxy-Lgalactose) [goid 42355] [pmid 11698403] [evidence NAS]" "Catalysis of the reaction: GDP-L-fucose + beta-D-galactosyl-R = GDP + alpha-L-fucosyl-(1,2)-beta-D-galactosyl-R [goid 8107] [pmid 11698403] [evidence TAS]; Catalysis of the transfer of a fucosyl group to an acceptor molecule, typically another carbohydrate or a lipid [goid 8417] [pmid 2118655] [evidence TAS]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]" HSC; H; HH HSC; H; HH Transferase -> Glycosyltransferase Protein metabolism and modification -> Protein modification -> Protein glycosylation;Immunity and defense -> Other immune and defense Homo sapiens RefSeq ILMN_180849 ILMN_180849 FUT6 NM_000150.2 NM_000150.2 2528 103472034 NM_000150.2 FUT6 NP_000141.1 ILMN_2312228 5420373 A 2826 CCAGATGTAATACTGCAAAGAAAACCGATGATGAGGCCGGGTGCGGTGGC 19 - 5781898-5781947 19p13.3b "Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 1, mRNA." "A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 11698403] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The addition of a sugar unit to a protein amino acid, e.g. the addition of glycan chains to proteins [goid 6486] [pmid 11698403] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of L-fucose (6-deoxy-Lgalactose) [goid 42355] [pmid 11698403] [evidence NAS]" "Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]; Catalysis of the reaction: GDP-L-fucose + beta-D-galactosyl-(1,3)-N-acetyl-D-glucosaminyl-R = GDP + beta-D-galactosyl-(1,3)-[alpha-L-fucosyl-(1,4)]-N-acetyl-D-glucosaminyl-R [goid 17060] [evidence IEA]; Catalysis of the transfer of an L-fucosyl group from GDP-beta-L-fucose to an acceptor molecule to form an alpha(1,3)-linkage [goid 46920] [pmid 11698403] [evidence TAS]" FLJ40754; FT1A FLJ40754; FT1A Transferase -> Glycosyltransferase Protein metabolism and modification -> Protein modification -> Protein glycosylation;Immunity and defense -> Other immune and defense Homo sapiens RefSeq ILMN_24566 ILMN_180849 FUT6 NM_000150.2 NM_000150.2 2528 103472034 NM_000150.2 FUT6 NP_000141.1 ILMN_1761275 5820671 S 2410 CCTGTTGCAGCTTCACCTGCCTGGGGATTCACCTACCTGGGTCCTCACTT 19 - 5782314-5782363 19p13.3b "Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 1, mRNA." "A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 11698403] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The addition of a sugar unit to a protein amino acid, e.g. the addition of glycan chains to proteins [goid 6486] [pmid 11698403] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of L-fucose (6-deoxy-Lgalactose) [goid 42355] [pmid 11698403] [evidence NAS]" "Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]; Catalysis of the reaction: GDP-L-fucose + beta-D-galactosyl-(1,3)-N-acetyl-D-glucosaminyl-R = GDP + beta-D-galactosyl-(1,3)-[alpha-L-fucosyl-(1,4)]-N-acetyl-D-glucosaminyl-R [goid 17060] [evidence IEA]; Catalysis of the transfer of an L-fucosyl group from GDP-beta-L-fucose to an acceptor molecule to form an alpha(1,3)-linkage [goid 46920] [pmid 11698403] [evidence TAS]" FLJ40754; FT1A FLJ40754; FT1A Phosphatase -> Carbohydrate phosphatase Carbohydrate metabolism -> Glycogen metabolism Homo sapiens RefSeq ILMN_183389 ILMN_183389 G6PC NM_000151.2 NM_000151.2 2538 119393889 NM_000151.2 G6PC NP_000142.1 ILMN_2079890 5550482 S 2820 GCACCGGGCCCTCCTTGCCTGTTTTTCAATCTCATCTGATATGCAGAGTA 17 + 38318636-38318685 17q21.31a "Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA." "The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [pmid 7573034] [evidence EXP]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 10318794] [evidence IDA]; Penetrating at least one phospholipid bilayer of an endoplasmic reticulum membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 30176] [pmid 10318794] [evidence TAS]" "The chemical reactions and pathways resulting in the breakdown of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues [goid 5980] [evidence IEA]; The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol [goid 6094] [pmid 8211187] [evidence IMP]; The chemical reactions and pathways involving triacylglycerol, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triacylglycerols are important components of plant oils, animal fats and animal plasma lipoproteins [goid 6641] [evidence IEA]; The directed movement of glucose-6-phosphate into, out of, within or between cells. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6 [goid 15760] [evidence IEA]; The increase in size or mass of an entire multicellular organism, as opposed to cell growth [goid 35264] [evidence IEA]; Any process involved in the maintenance of an internal equilibrium of glucose within an organism or cell [goid 42593] [pmid 8211187] [evidence IMP]; Any process involved in the maintenance of an internal equilibrium of cholesterol within an organism or cell [goid 42632] [evidence IEA]; The chemical reactions and pathways involving urate, the anion of uric acid, 2,6,8-trioxypurine, the end product of purine metabolism in certain mammals and the main excretory product in uricotelic animals [goid 46415] [evidence IEA]; The chemical reactions and pathways involving glucose 6-phosphate, a monophosphorylated derivative of glucose with the phosphate group attached to C-6 [goid 51156] [evidence IEA]" "Catalysis of the reaction: D-glucose 6-phosphate + H2O = D-glucose + phosphate [goid 4346] [pmid 10318794] [evidence IDA]; Catalysis of the reaction: D-glucose 6-phosphate + H2O = D-glucose + phosphate [goid 4346] [pmid 7573034] [evidence EXP]; Catalysis of the reaction: D-glucose 6-phosphate + H2O = D-glucose + phosphate [goid 4346] [pmid 8211187] [evidence IDA]; Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor) [goid 16773] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with phosphate [goid 42301] [pmid 12093795] [evidence IMP]" MGC163350; GSD1a; G6PT MGC163350; GSD1a; G6PT Hydrolase -> Glucosidase Carbohydrate metabolism -> Glycogen metabolism Homo sapiens RefSeq ILMN_25339 ILMN_168417 GAA NM_000152.3 NM_000152.3 2548 119393890 NM_000152.3 GAA NP_000143.2 ILMN_1765801 2490452 S 3516 ATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAA 17 + 75708015-75708064 17q25.3d "Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA." "A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]" "Any process that modulates the extent of heart contraction, changing the force with which blood is propelled [goid 2026] [evidence IEA]; A process whereby force is generated within involuntary skeletal muscle tissue, resulting in a change in muscle geometry. This process occurs in the diaphragm. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The diaphragm is a striated muscle that is necessary for the process of respiratory gaseous exchange [goid 2086] [evidence IEA]; The developmental process by which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 3007] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues [goid 5980] [evidence IEA]; A process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope [goid 6941] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases [goid 7040] [evidence IEA]; The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions [goid 7626] [evidence IEA]; The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure [goid 9888] [evidence IEA]; The cellular homeostatic process by which a muscle fiber is preserved in a stable functional or structural state [goid 46716] [evidence IEA]; Any process by which an organism voluntarily modulates its posture, the alignment of its anatomical parts [goid 50884] [evidence IEA]; Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors [goid 50885] [evidence IEA]; The chemical reactions and pathways involving the disaccharide maltose (4-O-alpha-D-glucopyranosyl-D-glucopyranose), an intermediate in the catabolism of glycogen and starch [goid 23] [pmid 9505277] [evidence IC ]; Any process that modulates the extent of heart contraction, changing the force with which blood is propelled [goid 2026] [evidence IEA]; A process whereby force is generated within involuntary skeletal muscle tissue, resulting in a change in muscle geometry. This process occurs in the diaphragm. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The diaphragm is a striated muscle that is necessary for the process of respiratory gaseous exchange [goid 2086] [evidence IEA]; The developmental process by which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 3007] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues [goid 5980] [evidence IEA]; The chemical reactions and pathways involving sucrose, the disaccharide fructofuranosyl-glucopyranoside [goid 5985] [pmid 9505277] [evidence IC ]; The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides [goid 6006] [pmid 9505277] [evidence IC ]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases [goid 7040] [evidence IEA]; The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions [goid 7626] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure [goid 9888] [evidence IEA]; The process of transporting a substance into, and confining within, a vacuole [goid 43181] [pmid 10931430] [evidence IMP]; The process by which the anatomical structures of the tongue are generated and organized. Morphogenesis pertains to the creation of form. The tongue is the movable, muscular organ on the floor of the mouth of most vertebrates, in man other mammals is the principal organ of taste, aids in the prehension of food, in swallowing, and in modifying the voice as in speech [goid 43587] [pmid 10931430] [evidence IMP]; The cellular homeostatic process by which a muscle fiber is preserved in a stable functional or structural state [goid 46716] [evidence IEA]; Any process by which an organism voluntarily modulates its posture, the alignment of its anatomical parts [goid 50884] [evidence IEA]; Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors [goid 50885] [evidence IEA]; The process by which the anatomical structures of cardiac ventricle muscle is generated and organized. Morphogenesis pertains to the creation of form [goid 55010] [pmid 10931430] [evidence IMP]; Muscle contraction of cardiac muscle tissue [goid 60048] [pmid 10931430] [evidence IMP]" "Catalysis of the hydrolysis of any O-glycosyl bond [goid 4553] [evidence IEA]; Catalysis of the hydrolysis of terminal, non-reducing 1,4-linked alpha-D-glucose residues with release of alpha-D-glucose [goid 4558] [evidence IEA]; Catalysis of the hydrolysis of any O-glycosyl bond [goid 4553] [evidence IEA]; Catalysis of the hydrolysis of terminal, non-reducing 1,4-linked alpha-D-glucose residues with release of alpha-D-glucose [goid 4558] [evidence IEA]; Interacting selectively with any mono-, di- or trisaccharide carbohydrate [goid 5529] [pmid 9505277] [evidence IC ]" LYAG LYAG Hydrolase -> Galactosidase Carbohydrate metabolism -> Other carbohydrate metabolism Homo sapiens RefSeq ILMN_138917 ILMN_28156 GALC NM_000153.2 NM_000153.2 2581 83281449 NM_000153.2 GALC NP_000144.2 ILMN_1799744 3440491 S 3859 CACCCCAGAAGGTTCTCTTGTATACCTGCTCAGTCAGTTCCTTTCACTCC 14 - 87469377-87469426 14q31.3c "Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA." "A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 7601472] [evidence TAS]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of galactosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of galactose by a ceramide group [goid 6683] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine [goid 4336] [evidence IEA]; Catalysis of the hydrolysis of any glycosyl bond [goid 16798] [evidence IEA]; Interacting selectively with cations, charged atoms or groups of atoms with a net positive charge [goid 43169] [evidence IEA]" Kinase -> Carbohydrate kinase Carbohydrate metabolism -> Monosaccharide metabolism Homo sapiens RefSeq ILMN_18040 ILMN_18040 GALK1 NM_000154.1 NM_000154.1 2584 4503894 NM_000154.1 GALK1 NP_000145.1 ILMN_1803194 3520278 S 1303 GTGCCCGGTGCCATCTTCCATATCCGGGTGCTCAATAAACTTGTGCCTCC 17 - 71265621-71265670 17q25.1d "Homo sapiens galactokinase 1 (GALK1), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 18029348] [evidence IDA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 8908517] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 8908517] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 18029348] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 7542884] [evidence EXP]" "The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways involving galactitol, the hexitol derived by the reduction of the aldehyde group of either D- or L-galactose [goid 19402] [evidence IEA]; The process of introducing a phosphate group into a carbohydrate, any organic compound based on the general formula Cx(H2O)y [goid 46835] [evidence IEA]; The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [pmid 15024738] [evidence IMP]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process of introducing a phosphate group into a carbohydrate, any organic compound based on the general formula Cx(H2O)y [goid 46835] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + D-galactose = ADP + D-galactose 1-phosphate [goid 4335] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + D-galactose = ADP + D-galactose 1-phosphate [goid 4335] [pmid 12694189] [evidence IDA]; Catalysis of the reaction: ATP + D-galactose = ADP + D-galactose 1-phosphate [goid 4335] [pmid 7542884] [evidence IDA]; Catalysis of the reaction: ATP + D-galactose = ADP + D-galactose 1-phosphate [goid 4335] [pmid 7542884] [evidence EXP]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 12694189] [evidence IDA]; Interacting selectively with the aldohexose galactose (galacto-hexose), a common constituent of many oligo- and polysaccharides [goid 5534] [pmid 14596685] [evidence IDA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" GALK; GK1 GALK; GK1 Transferase -> Nucleotidyltransferase Carbohydrate metabolism -> Monosaccharide metabolism Homo sapiens RefSeq ILMN_1433 ILMN_1433 GALT NM_000155.2 NM_000155.2 2592 22165415 NM_000155.2 GALT NP_000146.2 ILMN_1657475 5690750 I 1155 AGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCC 9 + 34640394-34640443 9p13.3c "Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 1897530] [evidence EXP]" "The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [pmid 1427861] [evidence TAS]" "Catalysis of the reaction: UDP-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-galactose [goid 8108] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Catalysis of the reaction: UDP-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-galactose [goid 8108] [evidence IEA]; Catalysis of the reaction: UDP-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-galactose [goid 8108] [pmid 1897530] [evidence EXP]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" Transferase -> Nucleotidyltransferase Carbohydrate metabolism -> Monosaccharide metabolism Homo sapiens RefSeq ILMN_1433 ILMN_1433 GALT NM_000155.2 NM_000155.2 2592 22165415 NM_000155.2 GALT NP_000146.2 ILMN_1706005 6520669 A 947 TTTCCCTACTCCATGGGCTGGCATGGGGCTCCCACAGGATCAGAGGCTGG 9 + 34639054-34639078:34639407-34639431 9p13.3c "Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 1897530] [evidence EXP]" "The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [pmid 1427861] [evidence TAS]" "Catalysis of the reaction: UDP-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-galactose [goid 8108] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Catalysis of the reaction: UDP-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-galactose [goid 8108] [evidence IEA]; Catalysis of the reaction: UDP-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-galactose [goid 8108] [pmid 1897530] [evidence EXP]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_20028 ILMN_20028 GAMT NM_000156.4 NM_000156.4 2593 20336210 NM_000156.4 GAMT NP_000147.1 ILMN_1794595 6980593 A 478 ACGACACGTACCCACTCTCGGAGGAGACCTGGCACACACACCAGTTCAAC 19 - 1350135-1350184 19p13.3i "Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA." That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8651275] [evidence EXP] "The chemical reactions and pathways resulting in the formation of creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle [goid 6601] [pmid 9325156] [evidence TAS]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 8547310] [evidence TAS]" "Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [pmid 8651275] [evidence EXP]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [pmid 9325156] [evidence TAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine [goid 30731] [evidence IEA]" TP53I2; PIG2 TP53I2; PIG2 Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_20028 ILMN_20028 GAMT NM_000156.4 NM_000156.4 2593 20336210 NM_000156.4 GAMT NP_000147.1 ILMN_1756469 5290593 I 956 CACCAGCAGCTTTCCCAGCTTCTCTGTGAGGGTCACTGCTGCCCACTGCA 19 - 1348140-1348189 19p13.3i "Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA." That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8651275] [evidence EXP] "The chemical reactions and pathways resulting in the formation of creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle [goid 6601] [pmid 9325156] [evidence TAS]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 8547310] [evidence TAS]" "Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [pmid 8651275] [evidence EXP]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [pmid 9325156] [evidence TAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine [goid 30731] [evidence IEA]" TP53I2; PIG2 TP53I2; PIG2 Hydrolase -> Amylase Carbohydrate metabolism -> Glycogen metabolism Homo sapiens RefSeq ILMN_2925 ILMN_2925 GBE1 NM_000158.2 NM_000158.2 2632 119393896 NM_000158.2 GBE1 NP_000149.2 ILMN_1789702 6280176 S 2381 CTGCCGAATTGAAGAGGCCTGATTTCAGCTCCACCAGATGCAGATTTGTG 3 - 81622208-81622247:81622248-81622257 3p12.3a-p12.2b "Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) (GBE1), mRNA." That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8613547] [evidence EXP] "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues [goid 5978] [evidence IEA]; The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 8613547] [evidence TAS]" "Catalysis of the transfer of a segment of a 1,4-alpha-D-glucan chain to a primary hydroxyl group in a similar glucan chain [goid 3844] [pmid 8613547] [evidence TAS]; Catalysis of the transfer of a segment of a 1,4-alpha-D-glucan chain to a primary hydroxyl group in a similar glucan chain [goid 3844] [pmid 8613547] [evidence EXP]; Catalysis of the hydrolysis of any O-glycosyl bond [goid 4553] [evidence IEA]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]; Interacting selectively with cations, charged atoms or groups of atoms with a net positive charge [goid 43169] [evidence IEA]" GBE GBE Oxidoreductase -> Dehydrogenase Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Acyl-CoA metabolism;Electron transport Homo sapiens RefSeq ILMN_15969 ILMN_15969 GCDH NM_000159.2 NM_000159.2 2639 50959149 NM_000159.2 GCDH NP_000150.1 ILMN_2296843 6660201 I 1473 TGAGCTTAGAAAGGGAGGTGGCGGATGGAGTGGGAAGTGAGAGACACTGA 19 + 12871434-12871483 19p13.13c "Homo sapiens glutaryl-Coenzyme A dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 8541831] [evidence TAS]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]" The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA] "Catalysis of the reaction: glutaryl-CoA + acceptor = crotonoyl-CoA + CO2 + reduced acceptor [goid 4361] [pmid 8541831] [evidence TAS]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [evidence IEA]" GCD; ACAD5 GCD; ACAD5 Receptor -> G-protein coupled receptor Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Homeostasis -> Glucose homeostasis Homo sapiens RefSeq ILMN_17452 ILMN_182202 GCGR NM_000160.2 NM_000160.2 2642 142350078 NM_000160.2 GCGR NP_000151.1 ILMN_1725311 6100095 S 1948 TGCGTGCCAGTGTCCCCACGTATGTCGGCACGTCCCATGTGCATGGAAAT 17|NT_113944.1 + 67422-67471 "Homo sapiens glucagon receptor (GCGR), mRNA." "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8144028] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 8144028] [evidence TAS]" "The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 7773293] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by modulation of adenylyl cyclase activity and a subsequent change in the concentration of cyclic AMP [goid 7188] [pmid 8144028] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus [goid 7584] [pmid 7773293] [evidence TAS]; The process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure [goid 8217] [pmid 8563746] [evidence TAS]; A series of molecular signals mediated by the detection of a hormone [goid 9755] [pmid 12626323] [evidence EXP]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; A receptor that binds an extracellular ligand and transmits the signal to a heterotrimeric G-protein complex. These receptors are characteristically seven-transmembrane receptors and are made up of hetero- or homodimers [goid 4930] [evidence IEA]; Combining with glucagon to initiate a change in cell activity [goid 4967] [pmid 8144028] [evidence TAS] GGR; MGC138246 GGR; MGC138246 Hydrolase -> Other hydrolase Nucleoside, nucleotide and nucleic acid metabolism -> Purine metabolism;Coenzyme and prosthetic group metabolism -> Coenzyme metabolism;Coenzyme and prosthetic group metabolism -> Pterin metabolism;Other metabolism -> Other carbon metabolism Homo sapiens RefSeq ILMN_2599 ILMN_175043 GCH1 NM_000161.2 NM_000161.2 2643 66932966 NM_000161.2 GCH1 NP_000152.1 ILMN_1788802 1740382 I 1159 TGCACAAAACCACTGCCAGATAACCAGAGGGGCCTGGGAAGGGAGAAGAA 14 - 54380190-54380239 14q22.2b-q22.3a "Homo sapiens GTP cyclohydrolase 1 (dopa-responsive dystonia) (GCH1), transcript variant 1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 16778797] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10907721] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 3318829] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 2463916] [evidence IDA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [pmid 3318829] [evidence IDA]; Any macromolecular complex composed of two or more polypeptide subunits, which may or may not be identical. Protein complexes may have other associated non-protein prosthetic groups, such as nucleotides, metal ions or carbohydrate groups [goid 43234] [pmid 11087823] [evidence IDA]" "The chemical reactions and pathways resulting in the breakdown of GTP, guanosine triphosphate [goid 6184] [pmid 2463916] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of phenylalanine, 2-amino-3-phenylpropanoic acid [goid 6559] [evidence IEA]; The chemical reactions and pathways resulting in the formation of tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine [goid 6729] [pmid 17101830] [evidence IMP]; The chemical reactions and pathways resulting in the formation of tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine [goid 6729] [pmid 9445252] [evidence IDA]; The chemical reactions and pathways resulting in the formation of tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine [goid 6729] [pmid 7678411] [evidence IDA]; The chemical reactions and pathways resulting in the formation of nitric oxide, nitrogen monoxide (NO), a colorless gas only slightly soluble in water [goid 6809] [pmid 9445252] [evidence NAS]; The process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure [goid 8217] [evidence IEA]; The process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure [goid 8217] [pmid 17717598] [evidence IMP]; The process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure [goid 8217] [evidence IEA]; A change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a of lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria [goid 32496] [pmid 7678411] [evidence IDA]; A change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a of lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria [goid 32496] [pmid 9445252] [evidence IDA]; A change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a of lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria [goid 32496] [pmid 15604419] [evidence IEP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon-gamma is also known as type II interferon [goid 34341] [pmid 7678411] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon-gamma is also known as type II interferon [goid 34341] [pmid 12607127] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon-gamma is also known as type II interferon [goid 34341] [pmid 9445252] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon-gamma is also known as type II interferon [goid 34341] [pmid 15604419] [evidence IEP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus [goid 34612] [pmid 9445252] [evidence IDA]; The chemical reactions and pathways resulting in the formation of dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline [goid 42416] [pmid 16338639] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pain stimulus. Pain stimuli cause activation of nociceptors, peripheral receptors for pain, include receptors which are sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli [goid 48265] [evidence ISS]; Any process by which an organism voluntarily modulates its posture, the alignment of its anatomical parts [goid 50884] [pmid 7874165] [evidence IMP]; Any process that activates or increases the activity of the enzyme nitric-oxide synthase [goid 51000] [pmid 17717598] [evidence IMP]; Any process that activates or increases the activity of the enzyme nitric-oxide synthase [goid 51000] [pmid 12176133] [evidence IDA]; Any process that activates or increases the activity of the enzyme nitric-oxide synthase [goid 51000] [pmid 15721862] [evidence IDA]; The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer [goid 51260] [pmid 11087823] [evidence IDA]" "Catalysis of the reaction: GTP + 2 H2O = formate + 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate [goid 3934] [pmid 3753653] [evidence IDA]; Catalysis of the reaction: GTP + 2 H2O = formate + 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate [goid 3934] [pmid 11284739] [evidence IDA]; Catalysis of the reaction: GTP + 2 H2O = formate + 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate [goid 3934] [pmid 8068008] [evidence IDA]; Catalysis of the reaction: GTP + 2 H2O = formate + 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate [goid 3934] [pmid 16778797] [evidence IDA]; Catalysis of the reaction: GTP + 2 H2O = formate + 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate [goid 3934] [pmid 8068008] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9092499] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16696853] [evidence IPI]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [pmid 3753653] [evidence IDA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [pmid 14717702] [evidence IDA]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 11087823] [evidence IDA]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 14717702] [evidence IDA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 1669853] [evidence IPI]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" DYT5; GTP-CH-1; GTPCH1; GCH DYT5; GTP-CH-1; GTPCH1; GCH Kinase -> Carbohydrate kinase Carbohydrate metabolism -> Glycolysis Homo sapiens RefSeq ILMN_25769 ILMN_25769 GCK NM_000162.2 NM_000162.2 2645 15967157 NM_000162.2 GCK NP_000153.1 ILMN_1706775 270554 I 415 GGATATTTCCACTTCAGAAGCCTACTGGGGAAGGCTGAGGGGTCCCAGCT 7 - 44195099-44195148 7p13d "Homo sapiens glucokinase (hexokinase 4, maturity onset diabetes of the young 2) (GCK), transcript variant 1, mRNA." That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10601273] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 14627435] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 10601273] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8325892] [evidence EXP] "The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides [goid 6006] [pmid 8132752] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of the regulated release of insulin [goid 32024] [pmid 8878425] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of the regulated release of insulin [goid 32024] [pmid 8132752] [evidence IMP]; Any process involved in the maintenance of an internal equilibrium of glucose within an organism or cell [goid 42593] [pmid 8132752] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of gluconeogenesis [goid 45721] [pmid 8878425] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen [goid 45725] [pmid 8878425] [evidence IMP]; The series of events in which a glucose stimulus is received by a cell and converted into a molecular signal [goid 51594] [pmid 12941786] [evidence IMP]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + D-hexose = ADP + D-hexose 6-phosphate [goid 4396] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + D-glucose = ADP + D-glucose 6-phosphate [goid 4340] [pmid 16173921] [evidence IDA]; Catalysis of the reaction: ATP + D-glucose = ADP + D-glucose 6-phosphate [goid 4340] [pmid 8325892] [evidence EXP]; Catalysis of the reaction: ATP + D-glucose = ADP + D-glucose 6-phosphate [goid 4340] [pmid 8446612] [evidence IDA]; Catalysis of the reaction: ATP + D-glucose = ADP + D-glucose 6-phosphate [goid 4340] [pmid 12941786] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16173921] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 16173921] [evidence IDA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 12941786] [evidence IDA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 8446612] [evidence IDA]; Interacting selectively with the D- or L-enantiomer of glucose [goid 5536] [pmid 16173921] [evidence IDA]; Interacting selectively with the D- or L-enantiomer of glucose [goid 5536] [pmid 8446612] [evidence IDA]; Interacting selectively with the D- or L-enantiomer of glucose [goid 5536] [pmid 12941786] [evidence IDA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" GK; HXKP; HHF3; GLK; MODY2; HK4; HKIV GK; HXKP; HHF3; GLK; MODY2; HK4; HKIV Receptor -> Other receptor Signal transduction -> Cell surface receptor mediated signal transduction;Signal transduction -> Intracellular signaling cascade;Developmental processes Homo sapiens RefSeq ILMN_12966 ILMN_12966 GHR NM_000163.2 NM_000163.2 2690 58530854 NM_000163.2 GHR NP_000154.1 ILMN_1775814 5050470 S 4243 GGTGGCCACATAAGCCATTATTCACTAGTATGACTAGTTGTGTCTGGCAG 5 + 42757566-42757615 5p12c "Homo sapiens growth hormone receptor (GHR), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2825030] [evidence TAS] "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 9140387] [evidence TAS]; A type of vesicle-mediated transport in which cells take up external materials or membrane constituents by the invagination of small region of the plasma membrane to form a new membrane-bounded vesicle [goid 6897] [evidence IEA]; The increase in size or mass of an entire organism, a part of an organism or a cell [goid 40007] [pmid 9140387] [evidence TAS]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with growth hormone to initiate a change in cell activity [goid 4903] [pmid 9140387] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12907755] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10866662] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12907755] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 8943276] [evidence IPI] GHBP GHBP Receptor -> G-protein coupled receptor Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling Homo sapiens RefSeq ILMN_29333 ILMN_29333 GIPR NM_000164.2 NM_000164.2 2696 45545425 NM_000164.2 GIPR NP_000155.1 ILMN_2082005 1850382 S 1802 GAGCTGGAGAACAGGATTCTAGGCGGAAGCGATAGCATAGGCAAAGGCCC 19 + 50877335-50877384 19q13.32a "Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA." "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 7556958] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 7556958] [evidence TAS]" "The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 7556958] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; Any process that initiates the activity of the inactive enzyme adenylate cyclase [goid 7190] [pmid 7589426] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus [goid 7584] [pmid 7556958] [evidence TAS]" A receptor that binds an extracellular ligand and transmits the signal to a heterotrimeric G-protein complex. These receptors are characteristically seven-transmembrane receptors and are made up of hetero- or homodimers [goid 4930] [evidence IEA]; Combining with gastric inhibitory peptide to initiate a change in cell activity [goid 16519] [evidence IEA] MGC126722 MGC126722 Cell junction protein -> Gap junction Signal transduction Homo sapiens RefSeq ILMN_5665 ILMN_167653 GJA1 NM_000165.3 NM_000165.3 2697 122939163 NM_000165.3 GJA1 NP_000156.1 ILMN_1727087 6940017 S 2737 GAGTTTAGCAGTCTTTTGGAGTGACCAGCAACTTTGATGTTTGCACTAAG 6 + 121812179-121812228 6q22.31c "Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA." "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 12907686] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 12506110] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 11124251] [evidence EXP]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 15709751] [evidence TAS]; An assembly of six molecules of connexin, made in the Golgi apparatus and subsequently transported to the plasma membrane, where docking of two connexons on apposed plasma membranes across the extracellular space forms a gap junction [goid 5922] [pmid 1850831] [evidence TAS]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The lipid bilayer surrounding a vesicle associated with the Golgi apparatus [goid 30660] [pmid 12149451] [evidence EXP]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [pmid 1696265] [evidence TAS]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 7715640] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 7715640] [evidence TAS]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [pmid 7715640] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; Assembly of gap junctions, which are found in most animal tissues, and serve as direct connections between the cytoplasms of adjacent cells. They provide open channels through the plasma membrane, allowing ions and small molecules (less than approximately a thousand daltons) to diffuse freely between neighboring cells, but preventing the passage of proteins and nucleic acids [goid 16264] [pmid 15709751] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of an I-kappaB kinase/NF-kappaB induced cascade [goid 43123] [pmid 12761501] [evidence IMP]" Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [pmid 12761501] [evidence IMP]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence ISS]; Catalysis of the transfer of an ion from one side of a membrane to the other [goid 15075] [pmid 1696265] [evidence TAS] GJAL; DFNB38; CX43; ODDD GJAL; DFNB38; CX43; ODDD Cell junction protein -> Gap junction Signal transduction Homo sapiens RefSeq ILMN_8143 ILMN_8143 GJB1 NM_000166.4 NM_000166.4 2705 148223887 NM_000166.4 GJB1 NP_000157.1 ILMN_1799535 1410152 S 1477 GGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGA X + 70361613-70361662 Xq13.1c "Homo sapiens gap junction protein, beta 1, 32kDa (GJB1), transcript variant 2, mRNA." "The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [pmid 9184217] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; An assembly of six molecules of connexin, made in the Golgi apparatus and subsequently transported to the plasma membrane, where docking of two connexons on apposed plasma membranes across the extracellular space forms a gap junction [goid 5922] [pmid 2875078] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [pmid 2875078] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 8266101] [evidence TAS]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 8266101] [evidence TAS]" "A wide pore channel activity that enables a direct cytoplasmic connection from one cell to an adjacent cell. The gap junction can pass large solutes as well as electrical signals between cells. Gap junctions consist of two gap junction hemi-channels, or connexons, one contributed by each membrane through which the gap junction passes [goid 5243] [pmid 9184217] [evidence EXP]" CX32; CMTX; CMTX1 CX32; CMTX; CMTX1 Transcription factor -> Zinc finger transcription factor Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Ectoderm development -> Neurogenesis;Developmental processes -> Mesoderm development Homo sapiens RefSeq ILMN_27780 ILMN_27780 GLI3 NM_000168.2 NM_000168.2 2737 13518031 NM_000168.2 GLI3 NP_000159.2 ILMN_1771962 110424 S 4511 AGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTA 7 - 41970689-41970738 7p14.1b-p14.1a "Homo sapiens GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) (GLI3), mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10077605] [evidence TAS]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10077605] [evidence TAS]; A protein complex that possesses activity that prevents or downregulates transcription [goid 17053] [evidence IEA]" "The vectorial transfer of a protein from the cytoplasm into the nucleus, through the nuclear pore and across the nuclear envelope [goid 60] [pmid 10077605] [evidence TAS]; The process whose specific outcome is the progression of the metanephros over time, from its formation to the mature structure. The metanephros is the excretory organ of the fetus which develops into the kidney and is formed from the rear portion of the nephrogenic cord [goid 1656] [evidence IEA]; Branching of the ureteric bud [goid 1658] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10077605] [evidence TAS]; The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened [goid 7224] [evidence IEA]; Any developmental process that results in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate [goid 7389] [evidence IEA]; The process by which the anatomical structures of the hindgut are generated and organized. Morphogenesis pertains to the creation of form [goid 7442] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; The regionalization process by which specific areas of cell differentiation are determined along the anterior-posterior axis [goid 9952] [evidence IEA]; The regionalization process by which specific areas of cell differentiation are determined along a proximal/distal axis [goid 9954] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription [goid 16481] [evidence IEA]; The process that regulates the coordinated growth and differentiation that establishes the non-random dorsal-ventral spatial arrangement of the spinal cord [goid 21513] [evidence IEA]; The process by which the anatomical structure of the optic nerve is generated and organized. Morphogenesis pertains to the creation of form. The sensory optic nerve originates from the bipolar cells of the retina and conducts visual information to the brainstem. The optic nerve exits the back of the eye in the orbit, enters the optic canal, and enters the central nervous system at the optic chiasm (crossing) where the nerve fibers become the optic tract just prior to entering the hindbrain [goid 21631] [evidence IEA]; The series of molecular signals initiated by binding of a ligand to the transmembrane receptor smoothened in a precursor cell in the ventral spinal cord that contributes to the commitment of the precursor cell to an interneuron fate [goid 21775] [evidence IEA]; The series of molecular signals initiated by binding of a ligand to the transmembrane receptor smoothened in a precursor cell in the spinal cord that contributes to the process of a precursor cell becoming capable of differentiating autonomously into a motor neuron in an environment that is neutral with respect to the developmental pathway [goid 21776] [evidence IEA]; The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium [goid 21915] [evidence IEA]; The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the oesophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax [goid 30324] [evidence IEA]; The process, occurring in the embryo, by which the anatomical structures of the limb are generated and organized. Morphogenesis pertains to the creation of form. A limb is an appendage of an animal used for locomotion or grasping [goid 30326] [evidence IEA]; The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk [goid 30879] [evidence IEA]; The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) [goid 30900] [evidence IEA]; The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts [goid 35295] [evidence IEA]; The process whose specific outcome is the progression of a dentine-containing tooth over time, from its formation to the mature structure. A dentine-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and are composed mainly of dentine, a dense calcified substance, covered by a layer of enamel [goid 42475] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell differentiation [goid 45596] [evidence IEA]; The process by which the anatomical structures of the gut are generated and organized during embryonic development. The gut is the region of the digestive tract extending from the beginning of the intestines to the anus [goid 48558] [evidence IEA]; The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another [goid 48589] [evidence IEA]; The process by which the anatomical structures of the eye are generated and organized. Morphogenesis pertains to the creation of form. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field [goid 48593] [evidence IEA]; The process by which anatomical structures are generated and organized during the embryonic phase. Morphogenesis pertains to the creation of form. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants [goid 48598] [evidence IEA]; The process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome [goid 48646] [evidence IEA]; The process whereby the developmental fate of a cell becomes restricted such that it will develop into a neuron [goid 48663] [evidence IEA]" "Interacting selectively with chromatin, the network of fibers of DNA and protein that make up the chromosomes of the eukaryotic nucleus during interphase [goid 3682] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9054938] [evidence TAS]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 10077605] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11238441] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10806483] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10564661] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11238441] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" PHS; PAP-A; PAPA1; GCPS; PAPB; PAPA; ACLS; PPDIV PHS; PAP-A; PAPA1; GCPS; PAPB; PAPA; ACLS; PPDIV Hydrolase -> Galactosidase Carbohydrate metabolism -> Other polysaccharide metabolism;Protein metabolism and modification -> Protein modification;Coenzyme and prosthetic group metabolism -> Porphyrin metabolism;Signal transduction Homo sapiens RefSeq ILMN_22410 ILMN_165737 GLA NM_000169.2 NM_000169.2 2717 125661058 NM_000169.2 GLA NP_000160.1 ILMN_1766637 60630 S 1207 CCATCGCAGTTGCTTCCCTGGGTAAAGGAGTGGCCTGTAATCCTGCCTGC X - 100539596-100539645 Xq22.1c "Homo sapiens galactosidase, alpha (GLA), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 1332979] [evidence IMP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3029062] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 1332979] [evidence IMP]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 1332979] [evidence IMP]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 3029062] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 1332979] [evidence IMP]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages [goid 9311] [pmid 39940] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide [goid 45019] [evidence ISS]; The chemical reactions and pathways resulting in the breakdown of glycosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of a monosaccharide (or derivative) by a ceramide group [goid 46477] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of glycosphingolipid, a compound with residues of sphingoid and at least one monosaccharide [goid 46479] [pmid 2160973] [evidence TAS]; Any process that stops or reduces the activity of the enzyme nitric-oxide synthase [goid 51001] [evidence ISS]" "Catalysis of the hydrolysis of any O-glycosyl bond [goid 4553] [evidence IEA]; Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase [goid 4557] [pmid 16372133] [evidence IMP]; Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase [goid 4557] [pmid 39940] [evidence IDA]; Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [pmid 1332979] [evidence IDA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 6256390] [evidence IDA]; Interacting selectively with cations, charged atoms or groups of atoms with a net positive charge [goid 43169] [evidence IEA]" GALA GALA Oxidoreductase -> Dehydrogenase Amino acid metabolism -> Amino acid catabolism Homo sapiens RefSeq ILMN_23395 ILMN_169859 GLDC NM_000170.2 NM_000170.2 2731 108773800 NM_000170.2 GLDC NP_000161.2 ILMN_1806754 4210397 S 3451 GCTTTGGTATTCTGCTTCCACATGTGCCAGTTGCCTGGATTGGGAGCCAT 9 - 6522772-6522821 9p24.1b "Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]" "The chemical reactions and pathways resulting in the breakdown of glycine, aminoethanoic acid [goid 6546] [pmid 1996985] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: glycine + lipoylprotein = S-aminomethyldihydrolipoylprotein + CO2 [goid 4375] [pmid 1996985] [evidence TAS]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [pmid 2268343] [evidence TAS]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]" MGC138198; GCSP; NKH; GCE; MGC138200; HYGN1 MGC138198; GCSP; NKH; GCE; MGC138200; HYGN1 Receptor -> Ligand-gated ion channel -> Other ligand-gated ion channel;Ion channel -> Ligand-gated ion channel -> Other ligand-gated ion channel Signal transduction -> Cell communication -> Ligand-mediated signaling;Transport -> Ion transport -> Anion transport;Neuronal activities -> Synaptic transmission -> Nerve-nerve synaptic transmission;Developmental processes -> Ectoderm development -> Neurogenesis Homo sapiens RefSeq ILMN_24115 ILMN_24115 GLRA1 NM_000171.1 NM_000171.1 2741 4504018 NM_000171.1 GLRA1 NP_000162.1 ILMN_1764797 3520653 S 1447 GCGCCAACAACAGTAACACCACCAACCCCCCTCCTGCACCATCTAAGTCC 5 - 151182573-151182622 5q33.1e "Homo sapiens glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome) (GLRA1), mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 11973623] [evidence IMP]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2155780] [evidence NAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7506679] [evidence IDA]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane [goid 43231] [pmid 7506679] [evidence IDA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]" "Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. An action potential is a spike of membrane depolarization and repolarization that travels along the membrane of a cell [goid 1508] [evidence IEA]; An action or movement due to the application of a sudden unexpected stimulus [goid 1964] [evidence IEA]; An action or movement due to the application of a sudden unexpected stimulus [goid 1964] [pmid 11973623] [evidence IMP]; An action or movement due to the application of a sudden unexpected stimulus [goid 1964] [pmid 8298642] [evidence IMP]; A process carried out by the nervous system that is required for the proper control of respiratory gaseous exchange. This process occurs in the respiratory center of the brain in vertebrates [goid 2087] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [pmid 2155780] [evidence IDA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [pmid 8137830] [evidence IDA]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 11973623] [evidence IMP]; The series of molecular signals generated as a consequence of a peptide neurotransmitter binding to a cell surface receptor [goid 7218] [pmid 2155780] [evidence IDA]; The process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse [goid 7268] [evidence IEA]; The discharge, by sperm, of a single, anterior secretory granule following their attachment to the zona pellucida surrounding the oocyte. The process begins with the fusion of the outer acrosomal membrane with the sperm plasma membrane and ends with the disperasl of the acrosomal contents into the egg [goid 7340] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [evidence IEA]; The actions or reactions of an adult relating to the progression of that organism along the ground by the process of lifting and setting down each leg [goid 7628] [evidence IEA]; Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment [goid 43576] [evidence IEA]; Any process by which an organism voluntarily modulates its posture, the alignment of its anatomical parts [goid 50884] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation [goid 51970] [pmid 11973623] [evidence IMP]; The process of communication from a neuron to another neuron across a synapse using the neurotransmitter glycine [goid 60012] [evidence IEA]; A reflex process in which an animal immediately tries to turn over after being placed in a supine position [goid 60013] [evidence IEA]; Any process that modulates the establishment or extent of the inhibitory postsynaptic potential (IPSP) which is a temporay decrease in postsynaptic potential due to the flow of negatively charged ions into the postsynaptic cell. The flow of ions that causes an IPSP is an inhibitory postsynaptic current (IPSC) and makes it more difficult for the neuron to fire an action potential [goid 60080] [evidence IEA]" "Combining with the amino acid gamma-aminobutyric acid (GABA, 4-aminobutyrate) to initiate a change in cell activity. GABA-A receptors function as chloride channels [goid 4890] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts [goid 5230] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11929858] [evidence IPI]; Interacting selectively with glycine, aminoethanoic acid [goid 16594] [evidence IEA]; Interacting selectively with glycine, aminoethanoic acid [goid 16594] [pmid 2155780] [evidence IDA]; Interacting selectively with glycine, aminoethanoic acid [goid 16594] [pmid 15748848] [evidence IDA]; Catalysis of the transmembrane transfer of a chloride ion by a channel that opens when extracellular glycine has been bound by the channel complex or one of its constituent parts [goid 16934] [pmid 8137830] [evidence IDA]; Catalysis of the transmembrane transfer of a chloride ion by a channel that opens when extracellular glycine has been bound by the channel complex or one of its constituent parts [goid 16934] [pmid 2155780] [evidence IDA]; Combining with a neurotransmitter to initiate a change in cell activity [goid 30594] [evidence IEA]; Interacting selectively with taurine [goid 30977] [pmid 15748848] [evidence IDA]; Interacting selectively with chloride ions (Cl-) [goid 31404] [evidence IEA]" STHE STHE Select regulatory molecule -> G-protein -> Large G-protein Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling Homo sapiens RefSeq ILMN_15782 ILMN_15782 GNAT1 NM_000172.2 NM_000172.2 2779 22027519 NM_000172.2 GNAT1 NP_000163.2 ILMN_1697315 6130450 A 1218 GCCGGGGCACAATTTGCACTCCCCTCAGCTAGACGCACAGACTCAGCAAT 3 + 50208887-50208936 3p21.31b "Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 (GNAT1), transcript variant 2, mRNA." "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8673138] [evidence NAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 8673138] [evidence TAS]; The sequence of reactions within a cell required to convert absorbed photons into a molecular signal [goid 7602] [evidence IEA]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]; Interacting selectively with guanyl nucleotides, any compound consisting of guanosine esterified with (ortho)phosphate [goid 19001] [evidence IEA]" GBT1; GNATR GBT1; GNATR Receptor;Extracellular matrix Signal transduction -> Cell surface receptor mediated signal transduction -> Other receptor mediated signaling pathway;Developmental processes Homo sapiens RefSeq ILMN_27584 ILMN_27584 GP1BA NM_000173.4 NM_000173.4 2811 150417977 NM_000173.4 GP1BA NP_000164.4 ILMN_1753575 4260767 S 2130 GTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGG 17 + 4778734-4778783 17p13.2b "Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 15297306] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8608228] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 15297306] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 1939645] [evidence EXP]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 3353370] [evidence TAS]; The lipid bilayer surrounding the platelet alpha granule [goid 31092] [pmid 8608228] [evidence EXP]" "The developmental process by which the size or shape of a cell is generated and organized. Morphogenesis pertains to the creation of form [goid 902] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 9410473] [evidence IDA]; Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [pmid 3353370] [evidence TAS]; A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug [goid 30168] [pmid 12855810] [evidence TAS]; Any process that modulates the frequency, rate or extent of blood coagulation [goid 30193] [pmid 12855810] [evidence TAS]; An ongoing process that solubilizes fibrin, chiefly by the proteolytic action of plasmin, resulting in the removal of small blood clots [goid 42730] [pmid 12855810] [evidence IDA]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 7721887] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12855810] [evidence IPI]; Combining with thrombin to initiate a change in cell activity [goid 15057] [pmid 12855810] [evidence TAS] MGC34595; CD42B; GP1B; BSS; CD42b-alpha BSS; CD42b-alpha; MGC34595; CD42B; GP1B Extracellular matrix -> Extracellular matrix glycoprotein Biological process unclassified Homo sapiens RefSeq ILMN_17159 ILMN_17159 GP9 NM_000174.2 NM_000174.2 2815 56676367 NM_000174.2 GP9 NP_000165.1 ILMN_1743290 1050292 S 789 CCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCT 3 + 130263874-130263923 3q21.3c "Homo sapiens glycoprotein IX (platelet) (GP9), mRNA." The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8608228] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10429193] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 1939645] [evidence EXP]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2771955] [evidence TAS]; The lipid bilayer surrounding the platelet alpha granule [goid 31092] [pmid 8608228] [evidence EXP] "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 2771955] [evidence NAS]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 9432024] [evidence TAS]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] CD42a; GPIX CD42a; GPIX Isomerase Carbohydrate metabolism -> Glycolysis;Carbohydrate metabolism -> Gluconeogenesis Homo sapiens RefSeq ILMN_7872 ILMN_7872 GPI NM_000175.2 NM_000175.2 2821 18201904 NM_000175.2 GPI NP_000166.2 ILMN_2173451 4220064 S 1755 AGCAGCGCGAGGCCAGAGTCCAATAAACTCGTGCTCATCTGCAGCCTCCT 19 + 39582756-39582781:39582782-39582805 19q13.11c "Homo sapiens glucose phosphate isomerase (GPI), mRNA." "That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [pmid 8575767] [evidence NAS]; The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol [goid 6094] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; An immune response mediated through a body fluid [goid 6959] [pmid 3020690] [evidence TAS]; The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part [goid 7599] [pmid 7435496] [evidence TAS]" "Catalysis of the reaction: D-glucose 6-phosphate = D-fructose 6-phosphate [goid 4347] [evidence IEA]; Functions to control the survival, growth, differentiation and effector function of tissues and cells [goid 5125] [evidence IEA]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [evidence IEA]; Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5 [goid 16853] [evidence IEA]" NLK; GNPI; AMF; PHI; PGI; SA-36 NLK; GNPI; AMF; PHI; PGI; SA-36 Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein;Select calcium binding protein -> Other select calcium binding proteins Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_139222 ILMN_139222 GSN NM_000177.3 NM_000177.3 2934 38016941 NM_000177.3 GSN NP_000168.1 ILMN_1787518 3940204 I 16 TGCCGACTGGGTCCCCTGCCGCTGTCGCCACCATGGCTCCGCACCGCCCC 9 + 123101929-123101960:123101961-123101978 9q33.2a "Homo sapiens gelsolin (amyloidosis, Finnish type) (GSN), transcript variant 1, mRNA." "A thin sheetlike process extended by the leading edge of a crawling fibroblast; contains a dense meshwork of actin filaments [goid 30027] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3020431] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 3020431] [evidence IDA]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [pmid 1321812] [evidence TAS]; A thin sheetlike process extended by the leading edge of a crawling fibroblast; contains a dense meshwork of actin filaments [goid 30027] [evidence IEA]" "The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]; Assembly of actin filaments by the addition of actin monomers to a filament [goid 30041] [pmid 3020431] [evidence IDA]; The process by which an actin filament is broken down into smaller filaments [goid 51014] [pmid 3020431] [evidence IDA]; The binding of a protein or protein complex to the barbed (or plus) end of an actin filament, thus preventing the addition, exchange or removal of further actin subunits [goid 51016] [pmid 1321812] [evidence TAS]" "Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10793131] [evidence IPI]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 1321812] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17373842] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17620599] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12732734] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17620599] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]" DKFZp313L0718 DKFZp313L0718 Synthase and synthetase -> Synthetase;Ligase -> Other ligase Sulfur metabolism -> Sulfur redox metabolism Homo sapiens RefSeq ILMN_23541 ILMN_23541 GSS NM_000178.2 NM_000178.2 2937 30581166 NM_000178.2 GSS NP_000169.1 ILMN_1683462 110474 S 1497 CCTGTGTGAGGGCACAACCAGGCCACGGGACCTTCTATCCTCTGTATTTG 20 - 32980250-32980291:32980292-32980299 20q11.22b "Homo sapiens glutathione synthetase (GSS), mRNA." "The chemical reactions and pathways involving amino acids, organic acids containing one or more amino substituents [goid 6520] [pmid 8896573] [evidence TAS]; The chemical reactions and pathways resulting in the formation of glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins [goid 6750] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [pmid 465367] [evidence TAS]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 8896573] [evidence TAS]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + gamma-L-glutamyl-L-cysteine + glycine = ADP + phosphate + glutathione [goid 4363] [pmid 7646467] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]" MGC14098; GSHS MGC14098; GSHS Nucleic acid binding -> Damaged DNA-binding protein Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair;Developmental processes -> Meiosis Homo sapiens RefSeq ILMN_25768 ILMN_25768 MSH6 NM_000179.1 NM_000179.1 2956 4504190 NM_000179.1 MSH6 NP_000170.1 ILMN_1729051 870148 S 4086 TCGGGAAGTTTGCCTGGCTAGTGAAAGGTCAACTGTAGATGCTGAAGCTG 2 + 47887292-47887294:47887422-47887468 2p16.3d "Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA." "The ordered and organized complex of DNA and protein that forms the chromosome in the nucleus [goid 790] [evidence IEA]; A heterodimer involved in the recognition and repair of base-base and small insertion/deletion mismatches. In human the complex consists of two subunits, MSH2 and MSH6 [goid 32301] [evidence IEA]; The ordered and organized complex of DNA and protein that forms the chromosome in the nucleus [goid 790] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A heterodimer involved in the recognition and repair of base-base and small insertion/deletion mismatches. In human the complex consists of two subunits, MSH2 and MSH6 [goid 32301] [evidence IEA]; A heterodimer involved in the recognition and repair of base-base and small insertion/deletion mismatches. In human the complex consists of two subunits, MSH2 and MSH6 [goid 32301] [pmid 8942985] [evidence IDA]" "A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [evidence IEA]; The control of viability and duration in the adult phase of the life-cycle [goid 8340] [evidence IEA]; A cascade of processes initiated by the detection of DNA damage and resulting in the induction of apoptosis (programmed cell death) [goid 8630] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers [goid 9411] [evidence IEA]; Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins [goid 16446] [evidence IEA]; The process by which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus [goid 16447] [evidence IEA]; The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus [goid 45190] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of DNA recombination [goid 45910] [evidence IEA]; In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase [goid 6284] [pmid 8942985] [evidence IDA]; A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [evidence IEA]; A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [pmid 11005803] [evidence IDA]; A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [pmid 8782829] [evidence IMP]; A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [pmid 10871409] [evidence IDA]; The control of viability and duration in the adult phase of the life-cycle [goid 8340] [evidence IEA]; A cascade of processes initiated by the detection of DNA damage and resulting in the induction of apoptosis (programmed cell death) [goid 8630] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers [goid 9411] [evidence IEA]; Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins [goid 16446] [evidence IEA]; The process by which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus [goid 16447] [evidence IEA]; The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus [goid 45190] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of DNA recombination [goid 45910] [evidence IEA]" "Interacting selectively with chromatin, the network of fibers of DNA and protein that make up the chromosomes of the eukaryotic nucleus during interphase [goid 3682] [evidence IEA]; Interacting selectively with damaged DNA [goid 3684] [evidence IEA]; Interacting selectively with double-stranded DNA containing a G/T mispair [goid 32137] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [pmid 16403449] [evidence IDA]; Interacting selectively with DNA containing four-way junctions, also known as Holliday junctions, a structure where two DNA double strands are held together by reciprocal exchange of two of the four strands, one strand each from the two original helices [goid 400] [pmid 12034830] [evidence IDA]; Catalysis of the removal of purines present in mismatches, especially opposite oxidized purines, by cleaving the N-C1' glycosidic bond between the target damaged DNA base and the deoxyribose sugar. The reaction releases a free base and leaves an apurinic (AP) site [goid 701] [pmid 11005803] [evidence IMP]; Interacting selectively with chromatin, the network of fibers of DNA and protein that make up the chromosomes of the eukaryotic nucleus during interphase [goid 3682] [evidence IEA]; Interacting selectively with damaged DNA [goid 3684] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 14657349] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 15105434] [evidence IDA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [pmid 16403449] [evidence IDA]; Interacting selectively with double-stranded DNA containing a G/T mispair [goid 32137] [evidence IEA]; Interacting selectively with double-stranded DNA containing a G/T mispair [goid 32137] [pmid 11809883] [evidence IDA]; Interacting selectively with double-stranded DNA containing a G/T mispair [goid 32137] [pmid 8942985] [evidence IDA]; Interacting selectively with double-stranded DNA containing a dinucleotide insertion or deletion [goid 32139] [pmid 11005803] [evidence IMP]; Interacting selectively with double-stranded DNA containing a single guanine insertion or a deletion that results in an unpaired guanine [goid 32142] [pmid 8942985] [evidence IDA]; Interacting selectively with double-stranded DNA containing a single thymine insertion or a deletion that results in an unpaired thymine [goid 32143] [pmid 8942985] [evidence IDA]; Interacting selectively with oxidized purine residues in DNA [goid 32357] [pmid 11801590] [evidence IDA]; Interacting selectively with oxidized purine residues in DNA [goid 32357] [pmid 11756455] [evidence IDA]; Interacting selectively with the mismatch repair complex MutLalpha [goid 32405] [pmid 16403449] [evidence IDA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 8942985] [evidence IDA]; Interacting selectively with ADP, adenosine 5'-diphosphate [goid 43531] [pmid 15105434] [evidence IDA]" HSAP; GTBP; HNPCC5 HSAP; HNPCC5; GTBP Lyase -> Cyclase -> Guanylate cyclase Nucleoside, nucleotide and nucleic acid metabolism -> Metabolism of cyclic nucleotides Homo sapiens RefSeq ILMN_24829 ILMN_24829 GUCY2D NM_000180.1 NM_000180.1 3000 4504216 NM_000180.1 GUCY2D NP_000171.1 ILMN_1795842 2370687 S 3343 GCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGA 17 + 7860530-7860573:7860574-7860579 17p13.1d "Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA." "The outer, i.e. cytoplasm-facing, lipid bilayer of the nuclear envelope; continuous with the endoplasmic reticulum of the cell and sometimes studded with ribosomes [goid 5640] [pmid 7777544] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 1356371] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The chemical reactions and pathways resulting in the formation of cyclic GMP, guanosine 3',5'-phosphate [goid 6182] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell, where the receptor possesses guanylyl cyclase activity [goid 7168] [pmid 1356371] [evidence TAS]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 9888789] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" "Catalysis of the reaction: GTP = 3',5'-cyclic GMP + diphosphate [goid 4383] [pmid 9888789] [evidence TAS]; Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP [goid 4672] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [pmid 1356371] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]" LCA1; CYGD; CORD6; ROS-GC1; GUC1A4; GUC2D; retGC; LCA; RETGC-1 LCA1; CYGD; CORD6; ROS-GC1; GUC1A4; GUC2D; retGC; LCA; RETGC-1 Hydrolase -> Galactosidase Carbohydrate metabolism Homo sapiens RefSeq ILMN_2474 ILMN_2474 GUSB NM_000181.2 NM_000181.2 2990 119372313 NM_000181.2 GUSB NP_000172.1 ILMN_1669878 3610553 S 2027 ACTTGAGCAAGACTGATACCACCTGCGTGTCCCTTCCTCCCCGAGTCAGG 7 - 65063274-65063318:65063319-65063323 7q11.21d "Homo sapiens glucuronidase, beta (GUSB), mRNA." "A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [pmid 3468507] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars [goid 6027] [pmid 1465145] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate [goid 4566] [pmid 3468507] [evidence TAS]; Interacting selectively with cations, charged atoms or groups of atoms with a net positive charge [goid 43169] [evidence IEA]" MPS7; FLJ39445 MPS7; FLJ39445 Oxidoreductase -> Dehydrogenase;Lyase -> Hydratase;Isomerase -> Epimerase/racemase Carbohydrate metabolism;Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Fatty acid beta-oxidation;Protein metabolism and modification -> Amino acid activation Homo sapiens RefSeq ILMN_19990 ILMN_172930 HADHA NM_000182.4 NM_000182.4 3030 105990523 NM_000182.4 HADHA NP_000173.2 ILMN_1712751 5690553 S 2971 GCAGATGCTTTGCCCAGGCTTCTCACCACGGTGTACCGGGATATTAAACC 2 - 26267024-26267073 2p23.3b "Homo sapiens hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; A complex that includes the long-chain 3-hydroxyacyl-CoA dehydrogenase and long-chain enoyl-CoA hydratase activities in two subunits (alpha and beta), catalyzing two steps of the fatty acid beta-oxidation cycle within the mitochondrial matrix [goid 16507] [evidence IEA]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis [goid 6631] [evidence IEA]; The metabolic oxidation of a long-chain fatty acid by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A [goid 6635] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: (S)-3-hydroxyacyl-CoA + NAD+ = 3-oxoacyl-CoA + NADH + H+ [goid 3857] [pmid 8135828] [evidence TAS]; Catalysis of the reaction: 2 acetyl-CoA = CoA + acetoacetyl-CoA [goid 3985] [pmid 8135828] [evidence TAS]; Catalysis of the reaction: (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H2O [goid 4300] [pmid 8135828] [evidence TAS]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the reaction: (S)-3-hydroxyacyl-CoA + NAD+ = 3-oxoacyl-CoA + NADH + H+. Acts most rapidly on derivatives with chain length 8 or 10 [goid 16509] [evidence IEA]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]; Interacting selectively with a coenzyme, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed [goid 50662] [evidence IEA]" LCHAD; MGC1728; HADH; TP-ALPHA; MTPA; GBP LCHAD; MGC1728; HADH; TP-ALPHA; MTPA; GBP Transferase -> Acetyltransferase Protein metabolism and modification -> Protein modification -> Protein acetylation Homo sapiens RefSeq ILMN_14786 ILMN_14786 HADHB NM_000183.2 NM_000183.2 3032 105990524 NM_000183.2 HADHB NP_000174.1 ILMN_2197846 6620152 S 1568 GGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGG 2 + 26361871-26361920 2p23.3b "Homo sapiens hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space [goid 5740] [pmid 1550553] [evidence TAS]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 1550553] [evidence EXP]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis [goid 6631] [evidence IEA]; The metabolic oxidation of a long-chain fatty acid by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A [goid 6635] [pmid 1550553] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the reaction: (S)-3-hydroxyacyl-CoA + NAD+ = 3-oxoacyl-CoA + NADH + H+ [goid 3857] [pmid 1550553] [evidence TAS]; Catalysis of the reaction: acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA [goid 3988] [pmid 8135828] [evidence TAS]; Catalysis of the reaction: (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H2O [goid 4300] [pmid 1550553] [evidence TAS]; Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" MGC87480; TP-BETA; MSTP029 MGC87480; MSTP029; TP-BETA Transfer/carrier protein -> Other transfer/carrier protein Transport;Blood circulation and gas exchange Homo sapiens RefSeq ILMN_28292 ILMN_28292 HBG2 NM_000184.2 NM_000184.2 3048 28302132 NM_000184.2 HBG2 NP_000175.1 ILMN_2084825 4010040 S 416 AGAATTCACCCCTGAGGTGCAGGCTTCCTGGCAGAAGATGGTGACTGGAG 11 - 5231114-5231163 11p15.4c "Homo sapiens hemoglobin, gamma G (HBG2), mRNA." "An iron-containing, oxygen carrying complex. In vertebrates it is made up of two pairs of associated globin polypeptide chains, each chain carrying a noncovalently bound heme prosthetic group [goid 5833] [evidence IEA]; An iron-containing, oxygen carrying complex. In vertebrates it is made up of two pairs of associated globin polypeptide chains, each chain carrying a noncovalently bound heme prosthetic group [goid 5833] [evidence IEA]; An iron-containing, oxygen carrying complex. In vertebrates it is made up of two pairs of associated globin polypeptide chains, each chain carrying a noncovalently bound heme prosthetic group [goid 5833] [evidence IEA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of oxygen (O2) into, out of, within or between cells [goid 15671] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of oxygen (O2) into, out of, within or between cells [goid 15671] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of oxygen (O2) into, out of, within or between cells [goid 15671] [evidence IEA]" "Enables the directed movement of oxygen into, out of, within or between cells [goid 5344] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Interacting selectively with oxygen (O2) [goid 19825] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Enables the directed movement of oxygen into, out of, within or between cells [goid 5344] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Interacting selectively with oxygen (O2) [goid 19825] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Enables the directed movement of oxygen into, out of, within or between cells [goid 5344] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Interacting selectively with oxygen (O2) [goid 19825] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" Select regulatory molecule -> Protease inhibitor -> Serine protease inhibitor Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_14456 ILMN_14456 SERPIND1 NM_000185.3 NM_000185.3 3053 73858565 NM_000185.3 SERPIND1 NP_000176.2 ILMN_1707975 1440270 S 1888 TCCTTGCACACCTGACTCTGTCACTCAAGCCTTTCTCCACCAGGCCCCTC 22 + 19471675-19471724 22q11.21e "Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS] "The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) [goid 6935] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [evidence IEA]" "Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [evidence IEA]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [evidence IEA]; Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [evidence IEA]" D22S673; HC2; HCII; HLS2; LS2; HCF2 D22S673; HC2; HCII; HLS2; LS2; HCF2 Defense/immunity protein -> Complement component Immunity and defense -> Complement-mediated immunity Homo sapiens RefSeq ILMN_8337 ILMN_181086 CFH NM_000186.2 NM_000186.2 3075 62739185 NM_000186.2 CFH NP_000177.2 ILMN_1698144 1470743 I 3183 GGAGCCAGTAATGTAACATGCATTAATAGCAGATGGACAGGAAGGCCAAC 1 + 194977747-194977796 1q31.3c "Homo sapiens complement factor H (CFH), transcript variant 1, mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 9312129] [evidence TAS]" Any process involved in the activation of any of the steps of the alternative pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes [goid 6957] [evidence IEA] HUS; MGC88246; HF1; FH; ARMD4; ARMS1; HF; CFHL3; FHL1; HF2 HUS; MGC88246; HF1; FH; ARMD4; ARMS1; HF; CFHL3; FHL1; HF2 Oxidoreductase -> Oxygenase Amino acid metabolism -> Amino acid catabolism Homo sapiens RefSeq ILMN_7177 ILMN_7177 HGD NM_000187.2 NM_000187.2 3081 115527116 NM_000187.2 HGD NP_000178.2 ILMN_2198239 2100358 S 1650 GGGAGCCACTCAAGAGCCACTTCACTCCCAACTCCAGGAACCCAGCAGAA 3 - 121829925-121829974 3q13.33b "Homo sapiens homogentisate 1,2-dioxygenase (homogentisate oxidase) (HGD), mRNA. XM_930683" "The chemical reactions and pathways resulting in the breakdown of phenylalanine, 2-amino-3-phenylpropanoic acid [goid 6559] [pmid 8782815] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid [goid 6572] [pmid 8782815] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of phenylalanine, 2-amino-3-phenylpropanoic acid [goid 6559] [evidence IEA]; The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid [goid 6570] [evidence IEA]" "Catalysis of the reaction: homogentisate + O2 = 4-maleylacetoacetate [goid 4411] [pmid 8782815] [evidence TAS]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the reaction: homogentisate + O2 = 4-maleylacetoacetate [goid 4411] [evidence IEA]" AKU; HGO AKU; HGO Kinase -> Carbohydrate kinase Carbohydrate metabolism -> Glycolysis Homo sapiens RefSeq ILMN_26711 ILMN_26711 HK1 NM_000188.1 NM_000188.1 3098 4504390 NM_000188.1 HK1 NP_000179.1 ILMN_1761829 2350678 I 67 ACCCCGACCGCCAGCATGATCGCCGCGCAGCTCCTGGCCTATTACTTCAC 10 + 70748695-70748709:70748710-70748744 10q21.3e "Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope [goid 5741] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9493266] [evidence EXP]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [pmid 3207429] [evidence TAS]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + D-hexose = ADP + D-hexose 6-phosphate [goid 4396] [evidence IEA]; Catalysis of the reaction: ATP + D-hexose = ADP + D-hexose 6-phosphate [goid 4396] [pmid 3207429] [evidence TAS]; Catalysis of the reaction: ATP + D-hexose = ADP + D-hexose 6-phosphate [goid 4396] [pmid 9493266] [evidence EXP]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" HK1-tc; HKI; HK1-tb; HK1-ta; HXK1 HKI; HK1-tb; HK1-tc; HK1-ta; HXK1 Kinase -> Carbohydrate kinase Carbohydrate metabolism -> Glycolysis Homo sapiens RefSeq ILMN_164962 ILMN_164962 HK2 NM_000189.4 NM_000189.4 3099 40806188 NM_000189.4 HK2 NP_000180.2 ILMN_2156172 6060730 S 6919 GCTTTGTGTAAATACAGTGGATCTCAATCTTCGGGGTGTGATGAATAGCG 2 + 74973815-74973864 2p13.1a "Homo sapiens hexokinase 2 (HK2), mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope [goid 5741] [pmid 7622509] [evidence NAS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8786021] [evidence EXP]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides [goid 6006] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The process of introducing a phosphate group into a carbohydrate, any organic compound based on the general formula Cx(H2O)y [goid 46835] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + D-hexose = ADP + D-hexose 6-phosphate [goid 4396] [pmid 8786021] [evidence EXP]; Catalysis of the reaction: ATP + D-hexose = ADP + D-hexose 6-phosphate [goid 4396] [pmid 9278438] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" HKII; HXK2; DKFZp686M1669 HKII; HXK2; DKFZp686M1669 Hydrolase -> Deaminase Coenzyme and prosthetic group metabolism -> Porphyrin metabolism Homo sapiens RefSeq ILMN_16358 ILMN_16358 HMBS NM_000190.3 NM_000190.3 3145 66933007 NM_000190.3 HMBS NP_000181.2 ILMN_1685954 6060278 I 140 TACTTTCCAAGCGGAGCCATGTCTGGTAACGGCAATGCGGCTGCAACGGC 11 + 118460936-118460953:118460954-118460985 11q23.3e "Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant 1, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]" "The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors [goid 6783] [evidence IEA]" "Catalysis of the reaction: 4 porphobilinogen + H2O = hydroxymethylbilane + 4 NH3 [goid 4418] [pmid 2025226] [evidence TAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" PBG-D; UPS; PBGD PBG-D; UPS; PBGD Hydrolase -> Deaminase Coenzyme and prosthetic group metabolism -> Porphyrin metabolism Homo sapiens RefSeq ILMN_15879 ILMN_16358 HMBS NM_000190.3 NM_000190.3 3145 66933007 NM_000190.3 HMBS NP_000181.2 ILMN_1726306 7320021 A 1345 GGAGACTGAACTGCAGGGTTCAAGCCTTCCAGGGATTTGCCTCACCTTGG 11 + 118469305-118469354 11q23.3e "Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant 1, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]" "The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors [goid 6783] [evidence IEA]" "Catalysis of the reaction: 4 porphobilinogen + H2O = hydroxymethylbilane + 4 NH3 [goid 4418] [pmid 2025226] [evidence TAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" PBG-D; UPS; PBGD PBG-D; UPS; PBGD Lyase -> Other lyase Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Acyl-CoA metabolism Homo sapiens RefSeq ILMN_18301 ILMN_18301 HMGCL NM_000191.2 NM_000191.2 3155 62198231 NM_000191.2 HMGCL NP_000182.2 ILMN_2122420 7380608 S 1460 CAAGCTGGCAGAGGCCATTTGTGGAAAGTGGAGAGCTACGTGGTGGCCGT 1 - 24001052-24001101 1p36.11d "Homo sapiens 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (HMGCL), mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 8102917] [evidence NAS]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 8440722] [evidence EXP]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: (S)-3-hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate [goid 4419] [evidence IEA]; Catalysis of the reaction: (S)-3-hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate [goid 4419] [pmid 8440722] [evidence EXP]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]" HL HL Transcription factor -> Other transcription factor;Nucleic acid binding Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Mesoderm development Homo sapiens RefSeq ILMN_165240 ILMN_165240 TBX5 NM_000192.3 NM_000192.3 6910 31652233 NM_000192.3 TBX5 NP_000183.2 ILMN_2376958 6200209 A 1442 CCCAGGAGCACCGTGAGGCAAAAAGTGGCCTCCAACCACAGTCCTTTCAG 12 - 113288510-113288559 12q24.21a "Homo sapiens T-box 5 (TBX5), transcript variant 1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 14519429] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 12237100] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 12499378] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 14519429] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]" "A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [pmid 12237100] [evidence IDA]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 11161571] [evidence IDA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [pmid 12845333] [evidence NAS]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [pmid 15138308] [evidence IDA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [pmid 8988165] [evidence IMP]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [pmid 16183809] [evidence IMP]; The process, occurring in the embryo, by which the anatomical structures of the limb are generated and organized. Morphogenesis pertains to the creation of form. A limb is an appendage of an animal used for locomotion or grasping [goid 30326] [pmid 8988164] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of cell migration [goid 30336] [pmid 15138308] [evidence IDA]; The process, occurring in the embryo, by which the anatomical structures of the arm are generated and organized. Morphogenesis pertains to the creation of form. In humans, the arms are the two upper limbs of the body from the shoulder to the hand [goid 35117] [pmid 16183809] [evidence IMP]; The process by which the anatomical structures of the forelimb are generated and organized. Morphogenesis pertains to the creation of form [goid 35136] [pmid 8988164] [evidence IMP]; The process by which the anatomical structures of the forelimb are generated and organized. Morphogenesis pertains to the creation of form [goid 35136] [pmid 8988165] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of DNA-dependent transcription [goid 45893] [pmid 12499378] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of DNA-dependent transcription [goid 45893] [pmid 12845333] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of DNA-dependent transcription [goid 45893] [pmid 11431700] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of cardioblast differentiation, the process whereby a relatively unspecialized mesodermal cell acquires the specialized structural and/or functional features of a cardioblast [goid 51891] [pmid 11431700] [evidence IDA]; The process whose specific outcome is the progression of the pericardium over time, from its formation to the mature structure. The pericardium is a double-walled sac that contains the heart and the roots of the aorta, vena cava and the pulmonary artery [goid 60039] [pmid 15138308] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell proliferation [goid 60044] [pmid 11161571] [evidence IDA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process by which the anatomical structures of epithelia are generated and organized. Morphogenesis pertains to the creation of form. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube [goid 2009] [evidence IEA]; Any developmental process that results in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate [goid 7389] [evidence IEA]; The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the oesophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax [goid 30324] [evidence IEA]; The process, occurring in the embryo, by which the anatomical structures of the forelimb are generated and organized. Morphogenesis pertains to the creation of form. The forelimbs are the front limbs of an animal [goid 35115] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]" "The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 12499378] [evidence IDA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 11431700] [evidence IDA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 16332960] [evidence IDA]; Functions to initiate or regulate RNA polymerase II transcription [goid 3702] [pmid 12845333] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12499378] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12845333] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16332960] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12845333] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11431700] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12845333] [evidence IPI]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [pmid 12499378] [evidence IDA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [pmid 11431700] [evidence IDA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Any transcription regulator activity required for initiation or upregulation of transcription [goid 16563] [evidence IEA]" HOS HOS Signaling molecule -> Other signaling molecule;Protease Protein metabolism and modification -> Proteolysis;Signal transduction -> Cell surface receptor mediated signal transduction -> Other receptor mediated signaling pathway;Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade;Signal transduction -> Cell communication -> Ligand-mediated signaling;Developmental processes -> Embryogenesis;Cell cycle;Oncogenesis -> Oncogene;Oncogenesis -> Other oncogenesis Homo sapiens RefSeq ILMN_27314 ILMN_27314 SHH NM_000193.2 NM_000193.2 6469 21071042 NM_000193.2 SHH NP_000184.1 ILMN_1652693 290386 S 1208 ACCATTCTCATCAACCGGGTGCTGGCCTCGTGCTACGCGGTCATCGAGGA 7 - 155288637-155288686 7q36.3a "Homo sapiens sonic hedgehog homolog (Drosophila) (SHH), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence ISS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; The external part of the cell wall and/or plasma membrane [goid 9986] [evidence ISS]; Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions [goid 45121] [evidence ISS]" "The process that regulates the coordinated growth and sprouting of blood vessels giving rise to the organized vascular system [goid 1569] [evidence ISS]; The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes [goid 1570] [evidence ISS]; The process whose specific outcome is the progression of the metanephros over time, from its formation to the mature structure. The metanephros is the excretory organ of the fetus which develops into the kidney and is formed from the rear portion of the nephrogenic cord [goid 1656] [evidence ISS]; Branching of the ureteric bud [goid 1658] [evidence ISS]; The process involved in the specification of cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment [goid 1708] [evidence ISS]; The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo [goid 1755] [evidence ISS]; Any process that activates or increases the rate of neuroblast proliferation [goid 2052] [evidence IEA]; The process whose specific outcome is the progression of an osteoblast over time, from its formation to the mature structure. Osteoblast development does not include the steps involved in committing a cranial neural crest cell or an osteoprogenitor cell to an osteoblast fate. An osteoblast is a cell that gives rise to bone [goid 2076] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence ISS]; Any process that increases the activity of a transcription factor that activates transcription of Hedgehog-target genes in response to Smoothened signaling. In Drosophila, Cubitus interruptus (Ci) is the only identified transcription factor so far in the Hedgehog signaling pathway. In vertebrates, members of the Gli protein family are activated in this way. Activation of the Gli/Ci transcription factor is distinct from its stabilization, when proteolytic cleavage is inhibited [goid 7228] [evidence IEA]; Any process that mediates the transfer of information from one cell to another [goid 7267] [evidence ISS]; Any developmental process that results in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate [goid 7389] [evidence ISS]; The process by which the migration of an axon growth cone is directed to a specific target site in response to a combination of attractive and repulsive cues [goid 7411] [evidence ISS]; The process whose specific outcome is the progression of the ventral midline over time, from its formation to the mature structure. In protostomes (such as insects, snails and worms) as well as deuterostomes (vertebrates), the midline is an embryonic region that functions in patterning of the adjacent nervous tissue. The ventral midline in insects is a cell population extending along the ventral surface of the embryo and is the region from which cells detach to form the ventrally located nerve cords. In vertebrates, the midline is originally located dorsally. During development, it folds inwards and becomes the ventral part of the dorsally located neural tube and is then called the ventral midline, or floor plate [goid 7418] [pmid 8896572] [evidence TAS]; The process by which the anatomical structures of the salivary gland are generated and organized. Morphogenesis pertains to the creation of form [goid 7435] [evidence ISS]; The process by which the anatomical structures of the hindgut are generated and organized. Morphogenesis pertains to the creation of form [goid 7442] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence ISS]; The chemical reactions and pathways involving androgens, C19 steroid hormones that can stimulate the development of male sexual characteristics [goid 8209] [evidence ISS]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [evidence ISS]; The regionalization process by which specific areas of cell differentiation are determined along the anterior-posterior axis [goid 9952] [evidence IEA]; The process aimed at the progression of an oligodendrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. An oligodendrocyte is a type of glial cell involved in myelinating the axons in the central nervous system [goid 14003] [evidence IEA]; The removal of an internal amino acid sequence (an intein) from a protein during protein maturation; the excision of inteins is precise and the N- and C-terminal exteins are joined by a normal peptide bond. Protein splicing involves 4 nucleophilic displacements by the 3 conserved splice junction residues [goid 16539] [evidence IEA]; The process that regulates the coordinated growth and differentiation that establishes the non-random dorsal-ventral spatial arrangement of the spinal cord [goid 21513] [evidence IEA]; The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened in granule cells that contributes to the regulation of proliferation of the cells [goid 21938] [evidence IEA]; The process that activates or increases the rate or extent of granule cell precursor proliferation [goid 21940] [evidence IEA]; The regionalization process that creates areas within the forebrain that will direct the behavior of cell migration in differentiation as the telencephalon develops [goid 21978] [evidence IEA]; Any process that modulates the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein [goid 30162] [evidence ISS]; The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the oesophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax [goid 30324] [evidence ISS]; Any process that stops, prevents or reduces the frequency, rate or extent of cell migration [goid 30336] [evidence ISS]; The process whose specific outcome is the progression of the male genitalia over time, from its formation to the mature structure [goid 30539] [evidence ISS]; The process whose specific outcome is the progression of the prostate gland over time, from its formation to the mature structure. The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid [goid 30850] [evidence ISS]; The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) [goid 30900] [evidence ISS]; The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles) [goid 30901] [evidence ISS]; The process whose specific outcome is the progression of the hindbrain over time, from its formation to the mature structure. The hindbrain is the posterior of the three primary divisions of the developing chordate brain, or the corresponding part of the adult brain (in vertebrates, includes the cerebellum, pons, and medulla oblongata and controls the autonomic functions and equilibrium) [goid 30902] [evidence ISS]; The process by which the anatomical structures of the hair follicle are generated and organized [goid 31069] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome [goid 32435] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of T cell proliferation [goid 42130] [evidence IEA]; The process whose specific outcome is the progression of a dentine-containing tooth over time, from its formation to the mature structure. A dentine-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and are composed mainly of dentine, a dense calcified substance, covered by a layer of enamel [goid 42475] [evidence IEA]; The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. Morphogenesis pertains to the creation of form. A digit is one of the terminal divisions of an appendage. For example a finger or toe [goid 42733] [evidence ISS]; The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field [goid 43010] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a myoblast. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers [goid 45445] [evidence IEA]; Any process that modulates the frequency, rate or extent of the synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 45449] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell differentiation [goid 45596] [evidence ISS]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of alpha-beta T cell differentiation [goid 46639] [evidence IEA]; Development, taking place during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 48568] [evidence IEA]; The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another [goid 48589] [evidence IEA]; The process by which anatomical structures are generated and organized during the embryonic phase. Morphogenesis pertains to the creation of form. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants [goid 48598] [evidence IEA]; The process whereby the developmental fate of a cell becomes restricted such that it will develop into a neuron [goid 48663] [evidence ISS]; The process whereby a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle [goid 51146] [evidence IEA]; The process whereby neuroepithelial cells of the neural tube give rise to Brgmann glial cells, specialized bipotential progenitors cells of the cerebellum. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 60020] [evidence IEA]" "Interacting selectively with the patched (ptc) protein, a receptor for hedgehog proteins [goid 5113] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence ISS]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Interacting selectively with laminin-1, a glycoprotein trimer with the subunit composition alpha1, beta1, gamma1 [goid 43237] [evidence ISS]" TPTPS; HHG1; HPE3; TPT; SMMCI; HLP3 TPTPS; HHG1; HPE3; TPT; SMMCI; HLP3 Transferase -> Glycosyltransferase Nucleoside, nucleotide and nucleic acid metabolism -> Purine metabolism Homo sapiens RefSeq ILMN_182790 ILMN_182790 HPRT1 NM_000194.1 NM_000194.1 3251 4504482 NM_000194.1 HPRT1 NP_000185.1 ILMN_2056975 6400270 S 921 TTGCACTATGAGCCTATAGACTATCAGTTCCCTTTGGGCGGATTGTTGTT X + 133461952-133462001 Xq26.2b "Homo sapiens hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome) (HPRT1), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 6300847] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 6300847] [evidence EXP]" "A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amphetamine stimulus. Amphetamines consist of a group of compounds related to alpha-methylphenethylamine [goid 1975] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate moiety at either the 3' or 5'-hydroxyl group of its glycose moiety [goid 6164] [evidence IEA]; Any process which produces a purine nucleoside from derivatives of it, without de novo synthesis [goid 6166] [evidence IEA]; Any process that generates adenine, 6-aminopurine, from derivatives of it without de novo synthesis [goid 6168] [evidence IEA]; Any process that generates guanine, 2-amino-6-hydroxypurine, from derivatives of it without de novo synthesis [goid 6178] [evidence IEA]; The specific actions or reactions of an organism relating to grooming, cleaning and brushing to remove dirt and parasites [goid 7625] [evidence IEA]; The chemical reactions and pathways involving a nucleoside, a nucleobase linked to either beta-D-ribofuranose (ribonucleoside) or 2-deoxy-beta-D-ribofuranose, (a deoxyribonucleotide), e.g. adenosine, guanosine, inosine, cytidine, uridine and deoxyadenosine, deoxyguanosine, deoxycytidine and thymidine (= deoxythymidine) [goid 9116] [evidence IEA]; The rupture of cell membranes and the loss of cytoplasm [goid 19835] [evidence IEA]; The progression of the striatum over time from its initial formation until its mature state. The striatum is a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking [goid 21756] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a neuron residing in the cerebral cortex [goid 21895] [evidence IEA]; The process whose specific outcome is the progression of a neuron whose cell body is located in the central nervous system, from initial commitment of the cell to a neuronal fate, to the fully functional differentiated neuron [goid 21954] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving dopamine [goid 45964] [evidence IEA]; The expansion of a lymphocyte population by cell division [goid 46651] [evidence IEA]; The process by which the anatomical structures of dendrite are generated and organized. Morphogenesis pertains to the creation of form. A dendrite is a freely branching protoplasmic process of a nerve cell [goid 48813] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate moiety at either the 3' or 5'-hydroxyl group of its glycose moiety [goid 6164] [pmid 9824441] [evidence IMP]; Any process which produces a purine nucleoside from derivatives of it, without de novo synthesis [goid 6166] [pmid 9824441] [evidence IMP]; The specific actions or reactions of an organism in response to external or internal stimuli. Patterned activity of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions [goid 7610] [pmid 16138897] [evidence IMP]; The chemical reactions and pathways involving a nucleoside, a nucleobase linked to either beta-D-ribofuranose (ribonucleoside) or 2-deoxy-beta-D-ribofuranose, (a deoxyribonucleotide), e.g. adenosine, guanosine, inosine, cytidine, uridine and deoxyadenosine, deoxyguanosine, deoxycytidine and thymidine (= deoxythymidine) [goid 9116] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving dopamine [goid 45964] [pmid 8643611] [evidence IMP]; The chemical reactions and pathways involving hypoxanthine, 6-hydroxy purine, an intermediate in the degradation of adenylate. Its ribonucleoside is known as inosine and its ribonucleotide as inosinate [goid 46100] [pmid 9824441] [evidence IMP]; The formation of a protein homotetramer, a macromolecular structure consisting of four noncovalently associated identical subunits [goid 51289] [pmid 9521733] [evidence IDA]" "Catalysis of the reaction: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate or GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphate [goid 4422] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [pmid 10360366] [evidence IDA]; Catalysis of the reaction: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate or GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphate [goid 4422] [pmid 9521733] [evidence IDA]; Catalysis of the reaction: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate or GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphate [goid 4422] [pmid 6300847] [evidence EXP]; Catalysis of the reaction: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate or GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphate [goid 4422] [pmid 6300847] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 8044844] [evidence IPI]" HPRT; HGPRT HPRT; HGPRT Molecular function unclassified Sensory perception -> Vision Homo sapiens RefSeq ILMN_2724 ILMN_182536 HPS1 NM_000195.2 NM_000195.2 3257 33286415 NM_000195.2 HPS1 NP_000186.2 ILMN_1741483 1570139 A 1136 CTGAGGAGTACTTCACACCAGCTCCTTCCCCTGGCGATCAGAGCTCAGGT 10 - 100177009-100177011:100179320-100179366 10q24.2a "Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 8896559] [evidence TAS]; That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [pmid 10625677] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10625677] [evidence TAS]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 10625677] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8896559] [evidence TAS]; A membrane-bounded vesicle found in the cytoplasm of the cell [goid 16023] [pmid 11836498] [evidence IDA]" "A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane [goid 6996] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases [goid 7040] [pmid 10625677] [evidence TAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a melanocyte [goid 30318] [evidence IEA]; The deposition or aggregation of coloring matter in an organism, tissue or cell [goid 43473] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" "The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits [goid 46983] [pmid 12663659] [evidence IPI]" HPS; MGC5277 HPS; MGC5277 Oxidoreductase -> Dehydrogenase;Oxidoreductase -> Reductase Other metabolism Homo sapiens RefSeq ILMN_6288 ILMN_6288 HSD11B2 NM_000196.3 NM_000196.3 3291 119392082 NM_000196.3 HSD11B2 NP_000187.3 ILMN_1813350 840176 S 1653 GCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCC 16 + 66028726-66028775 16q22.1b "Homo sapiens hydroxysteroid (11-beta) dehydrogenase 2 (HSD11B2), mRNA." "The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]" "The chemical reactions and pathways resulting in the formation of glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol [goid 6704] [pmid 7859916] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]" AME1; HSD2; AME; HSD11K AME1; HSD2; AME; HSD11K Oxidoreductase -> Dehydrogenase;Oxidoreductase -> Reductase Lipid, fatty acid and steroid metabolism -> Steroid metabolism Homo sapiens RefSeq ILMN_810 ILMN_810 HSD17B3 NM_000197.1 NM_000197.1 3293 4557648 NM_000197.1 HSD17B3 NP_000188.1 ILMN_1765954 3890768 S 956 TGAAGCTCAACACCAAGGTCAGGTAGCCAGGCGGTGAGGAGTCCAGCACA 9 - 98037538-98037562:98037563-98037587 9q22.32b "Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA." "Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [pmid 8075637] [evidence TAS]" "The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification [goid 6694] [evidence IEA]; The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification [goid 6694] [pmid 15583024] [evidence EXP]; Any process that establishes and transmits the specification of sexual status of an individual organism [goid 7530] [evidence IEA]; The process whose specific outcome is the progression of the male genitalia over time, from its formation to the mature structure [goid 30539] [pmid 8075637] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the reaction: NADP+ + testosterone = NADPH + H+ + androst-4-ene-3,17-dione [goid 47045] [evidence IEA]" EDH17B3 EDH17B3 Lyase -> Dehydratase;Isomerase -> Epimerase/racemase Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Cholesterol metabolism Homo sapiens RefSeq ILMN_16046 ILMN_16046 HSD3B2 NM_000198.2 NM_000198.2 3284 50726973 NM_000198.2 HSD3B2 NP_000189.1 ILMN_1733462 3780575 S 1302 AATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGC 1 + 119766807-119766856 1p12a "Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence ISS]; The region between the inner and outer lipid bilayers of the mitochondrial envelope [goid 5758] [evidence ISS]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 1944309] [evidence NAS]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence ISS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 1944309] [evidence NAS]; The lipid bilayer surrounding the smooth endoplasmic reticulum [goid 30868] [evidence ISS]" "The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification [goid 6694] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the formation of C21-steroid hormones, steroid compounds containing 21 carbons which function as hormones [goid 6700] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: 3-beta-hydroxy-delta(5)-steroid + NAD+ = 3-oxo-delta(5)-steroid + NADH + H+ [goid 3854] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5 [goid 16853] [evidence IEA]; Catalysis of the reaction: 3-beta-hydroxy-delta(5)-steroid + NAD+ = 3-oxo-delta(5)-steroid + NADH + H+ [goid 3854] [pmid 1944309] [evidence IDA]; Catalysis of the reaction: a 3-oxo-delta(5)-steroid = a 3-oxo-delta(4)-steroid [goid 4769] [pmid 1944309] [evidence IDA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5 [goid 16853] [evidence IEA]" HSDB; HSDB3 HSDB; HSDB3 Hydrolase -> Other hydrolase Carbohydrate metabolism -> Other polysaccharide metabolism;Sulfur metabolism Homo sapiens RefSeq ILMN_7542 ILMN_7542 SGSH NM_000199.2 NM_000199.2 6448 31543619 NM_000199.2 SGSH NP_000190.1 ILMN_2133675 1340538 S 2392 ACTGGCGTTGCTGGGTGGCGATGCCCGTCCTCTGGCTTGGGTTAATTCTT 17 - 75797925-75797974 17q25.3d "Homo sapiens N-sulfoglucosamine sulfohydrolase (sulfamidase) (SGSH), mRNA." "A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]" "The chemical reactions and pathways involving proteoglycans, any glycoprotein in which the carbohydrate units are glycosaminoglycans [goid 6029] [pmid 7493035] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties [goid 30203] [evidence IEA]" "Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of any sulfuric ester bond, any ester formed from sulfuric acid, O=SO(OH)2 [goid 8484] [evidence IEA]; Catalysis of the reaction: N-sulfo-D-glucosamine + H2O = D-glucosamine + SO4(2-) (sulfate) [goid 16250] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" HSS; MPS3A; SFMD HSS; MPS3A; SFMD Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_29545 ILMN_29545 HTN3 NM_000200.1 NM_000200.1 3347 4557652 NM_000200.1 HTN3 NP_000191.1 ILMN_2049909 5550598 S 244 GGGGCATGATTATGGAGGTTTGACTGGCAAATTCGCTTTGGACTCGTGTA 4 + 70933543-70933559:70936573-70936605 4q13.3a "Homo sapiens histatin 3 (HTN3), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8336540] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3286634] [evidence NAS] "The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance [goid 1503] [evidence IEA]; The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to living organisms. Used of chemical compounds, e.g. a xenobiotic chemical, such as a pesticide [goid 6805] [evidence IEA]; Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism [goid 42742] [pmid 3286634] [evidence NAS]; Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism [goid 42742] [pmid 8336540] [evidence NAS]; Reactions triggered in response to the presence of a fungus that act to protect the cell or organism [goid 50832] [evidence IEA]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16203048] [evidence IPI]; Interacting selectively with any metal ion [goid 46872] [evidence IEA] HTN2; HTN5; HIS2 HTN2; HTN5; HIS2 Receptor;Cell adhesion molecule -> CAM family adhesion molecule Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Cell adhesion;Immunity and defense -> B-cell- and antibody-mediated immunity Homo sapiens RefSeq ILMN_17682 ILMN_17682 ICAM1 NM_000201.1 NM_000201.1 3383 4557877 NM_000201.1 ICAM1 NP_000192.1 ILMN_1812226 7150278 S 2645 GCAGTGATCAGGGTCCTGCAAGCAGTGGGGAAGGGGGCCAAGGTATTGGA 19 + 10257952-10258001 19p13.2c "Homo sapiens intercellular adhesion molecule 1 (CD54), human rhinovirus receptor (ICAM1), mRNA." "That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 9290466] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 11857637] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3349522] [evidence NAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2538243] [evidence TAS]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]" "The attachment of a leukocyte to another cell via adhesion molecules [goid 7159] [evidence IEA]; The initial attachment of a membrane to a target membrane, mediated by proteins protruding from the two membranes. Docking requires only that the membranes come close enough for the proteins to interact and adhere [goid 22614] [pmid 12082081] [evidence IEP]; Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix [goid 30155] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via an integrin, a heterodimeric adhesion receptor formed by the non-covalent association of particular alpha and beta subunits [goid 33627] [evidence IEA]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]; The movement of leukocytes within or between different tissues and organs of the body [goid 50900] [pmid 12082081] [evidence IEP]" "Combining with an extracellular or intracellular messenger to initiate a change in cell activity, and spanning to the membrane of either the cell or an organelle [goid 4888] [pmid 2538243] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]" P3.58; BB2; CD54 P3.58; BB2; CD54 Hydrolase -> Other hydrolase Carbohydrate metabolism -> Other polysaccharide metabolism;Sulfur metabolism Homo sapiens RefSeq ILMN_2023 ILMN_2023 IDS NM_000202.3 NM_000202.3 3423 115527099 NM_000202.3 IDS NP_000193.1 ILMN_1758626 130360 I 1809 ATGTGCTCCCTTCCAGCTGGTGAGAGGAGGAGTTAGAGCTGGTCGTTTTG X - 148372103-148372152 Xq28b "Homo sapiens iduronate 2-sulfatase (Hunter syndrome) (IDS), transcript variant 1, mRNA." "The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 11256614] [evidence IDA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties [goid 30203] [evidence IEA]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of any sulfuric ester bond, any ester formed from sulfuric acid, O=SO(OH)2 [goid 8484] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of any sulfuric ester bond, any ester formed from sulfuric acid, O=SO(OH)2 [goid 8484] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of any sulfuric ester bond, any ester formed from sulfuric acid, O=SO(OH)2 [goid 8484] [evidence IEA]; Catalysis of the hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin [goid 4423] [pmid 2122463] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" MPS2; SIDS MPS2; SIDS Hydrolase -> Glycosidase Carbohydrate metabolism -> Other polysaccharide metabolism Homo sapiens RefSeq ILMN_11556 ILMN_11556 IDUA NM_000203.3 NM_000203.3 3425 110611238 NM_000203.3 IDUA NP_000194.2 ILMN_1703041 7400259 S 1804 CGTGGGCTCCAAGTGCCTGTGGACATACGAGATCCAGTTCTCTCAGGACG 4 + 987402-987413:987800-987837 4p16.3c "Homo sapiens iduronidase, alpha-L- (IDUA), mRNA." "A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving any disaccharide, sugars composed of two monosaccharide units [goid 5984] [pmid 2470345] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties [goid 30203] [evidence IEA]" "Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in desulfated dermatan [goid 3940] [pmid 2470345] [evidence TAS]; Interacting selectively with cations, charged atoms or groups of atoms with a net positive charge [goid 43169] [evidence IEA]" MPS1; IDA MPS1; IDA Hydrolase;Protease -> Serine protease;Defense/immunity protein -> Complement component Protein metabolism and modification -> Proteolysis;Immunity and defense -> Complement-mediated immunity Homo sapiens RefSeq ILMN_12221 ILMN_12221 CFI NM_000204.2 NM_000204.2 3426 119392080 NM_000204.2 CFI NP_000195.2 ILMN_1727815 1690609 S 1783 GGAGGCCCCTTAGTCTGTATGGATGCCAACAATGTGACTTATGTCTGGGG 4 - 110881624-110881673 4q25c "Homo sapiens complement factor I (CFI), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes [goid 6958] [evidence IEA]; Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens [goid 45087] [evidence IEA]" "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 8604219] [evidence TAS]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 2956252] [evidence TAS]; Combining with acetylated low-density lipoproteins, advanced glycation end products, or other polyanionic ligands to initiate a change in cell activity [goid 5044] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" IF; KAF; FI; factor I; C3b-INA IF; KAF; FI; factor I; C3b-INA Receptor -> Cytokine receptor -> Interleukin receptor Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway Homo sapiens RefSeq ILMN_16342 ILMN_16342 IL2RG NM_000206.1 NM_000206.1 3561 4557881 NM_000206.1 IL2RG NP_000197.1 ILMN_1794386 6450390 S 1221 CCCCACTGTGGCTGATTTGGAATTTTGTGCCCCCATGTAAGCACCCCTTC X - 70244164-70244213 Xq13.1c "Homo sapiens interleukin 2 receptor, gamma (severe combined immunodeficiency) (IL2RG), mRNA." "Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8514792] [evidence TAS]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence ISS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 8266078] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8266076] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of differentiation of CD4-positive, CD25-positive, alpha-beta regulatory T cells [goid 32831] [evidence IEA]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; [goid 4896] [evidence IEA]; Combining with interleukin-2 to initiate a change in cell activity [goid 4911] [pmid 8266076] [evidence TAS]; Combining with interleukin-4 to initiate a change in cell activity [goid 4913] [pmid 8266078] [evidence TAS]; Combining with interleukin-7 to initiate a change in cell activity [goid 4917] [pmid 8266077] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12504082] [evidence IPI] CD132; SCIDX; SCIDX1; IMD4 CD132; SCIDX; SCIDX1; IMD4 Signaling molecule -> Peptide hormone Carbohydrate metabolism -> Carbohydrate transport;Transport -> Carbohydrate transport;Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Signal transduction -> Cell communication -> Ligand-mediated signaling Homo sapiens RefSeq ILMN_14900 ILMN_14900 INS NM_000207.2 NM_000207.2 3630 109148525 NM_000207.2 INS NP_000198.1 ILMN_1666966 870626 S 416 ACCCGCCGCCTCCTGCACCGAGAGAGATGGAATAAAGCCCTTGAACCAGC 11p15.5a "Homo sapiens insulin (INS), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 18029348] [evidence IDA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 7556975] [evidence IC ]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 9667398] [evidence IDA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 18029348] [evidence IDA]" "Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response [goid 2674] [pmid 11443198] [evidence IDA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides [goid 6006] [evidence IEA]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids [goid 6521] [pmid 3553851] [evidence IMP]; Process involving non-antibody proteins whose concentrations in the plasma increase in response to infection or injury of homeothermic animals [goid 6953] [pmid 14739855] [evidence IDA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 9092559] [evidence IDA]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 7556975] [evidence IC ]; The specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death [goid 8219] [pmid 15194403] [evidence NAS]; A series of reactions, mediated by the intracellular phosphoinositide 3-kinase (PI3K). PI3K cascades lie downstream of many cell surface receptor linked signaling pathways and regulate numerous cellular functions [goid 14065] [pmid 7688386] [evidence IDA]; The directed movement of the hexose monosaccharide glucose into, out of, within or between cells [goid 15758] [pmid 14615391] [evidence IDA]; The directed movement of the hexose monosaccharide glucose into, out of, within or between cells [goid 15758] [pmid 15792832] [evidence IDA]; Any process that modulates the frequency, rate or extent of transmembrane transporter activity [goid 22898] [pmid 14615391] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell [goid 32270] [pmid 3553851] [evidence IMP]; Any process that modulates the DNA-dependent transcription of a specific gene or genes [goid 32583] [pmid 12881524] [evidence NAS]; Any process that modulates the frequency, rate or extent of any process by which a protein is transported to, or maintained in, a specific location [goid 32880] [pmid 14615391] [evidence IDA]; Any process that stops or reduces the activity of the enzyme NAD(P)H oxidase [goid 33861] [pmid 11443198] [evidence IDA]; The series of events that restore integrity to a damaged tissue, following an injury [goid 42060] [pmid 9498508] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds [goid 42177] [pmid 15185208] [evidence IDA]; Any process involved in the maintenance of an internal equilibrium of glucose within an organism or cell [goid 42593] [pmid 381941] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide [goid 45429] [pmid 14615391] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of DNA replication [goid 45740] [pmid 7688386] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen [goid 45818] [pmid 381941] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of glycolysis [goid 45821] [pmid 381941] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of glycolysis [goid 45821] [pmid 7688386] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein [goid 45861] [pmid 3553851] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of vasodilation [goid 45908] [pmid 12946932] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of vasodilation [goid 45909] [pmid 14744991] [evidence NAS]; Any process that stops, prevents or reduces the frequency, rate or extent of the chemical reactions and pathways involving fatty acids [goid 45922] [pmid 1184755] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle [goid 46326] [pmid 14615391] [evidence IDA]; Any process that increases the frequency, rate or extent of insulin receptor signaling [goid 46628] [pmid 7688386] [evidence IDA]; The change in morphology and behavior of an alpha-beta T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific [goid 46631] [pmid 10604997] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of the regulated release of a protein from a cell or group of cells [goid 50709] [pmid 14739855] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of the regulated release of cytokines from a cell or group of cells [goid 50715] [pmid 15473891] [evidence IDA]; Any process that activates or increases the activity of the enzyme nitric-oxide synthase [goid 51000] [pmid 12135947] [evidence NAS]; Any process involved in the maintenance of an internal equilibrium of fatty acid within an organism or cell [goid 55089] [pmid 1184755] [evidence IMP]; Any process that decreases the rate, frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases made as a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals [goid 60266] [pmid 11443198] [evidence IDA]; Any process that increases the rate frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals [goid 60267] [pmid 9092559] [evidence NAS]" "The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [evidence IEA]; The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [evidence IEA]; Interacting selectively with the insulin receptor [goid 5158] [pmid 7556975] [evidence IDA]; Interacting selectively with the insulin-like growth factor receptor [goid 5159] [pmid 8452530] [evidence IPI]; The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [pmid 14986111] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9773776] [evidence IPI]; Interacting selectively with an insulin-like growth factor, any member of a group of polypeptides that are structurally homologous to insulin and share many of its biological activities, but are immunologically distinct from it [goid 5520] [pmid 9388210] [evidence IPI]" Receptor -> Protein kinase receptor -> Tyrosine protein kinase receptor;Kinase -> Protein kinase -> Tyrosine protein kinase receptor Carbohydrate metabolism -> Regulation of carbohydrate metabolism;Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Signal transduction -> Cell communication -> Ligand-mediated signaling;Apoptosis -> Inhibition of apoptosis;Developmental processes -> Other developmental process;Developmental processes -> Embryogenesis;Cell cycle -> Cell cycle control;Cell proliferation and differentiation Homo sapiens RefSeq ILMN_18882 ILMN_18882 INSR NM_000208.2 NM_000208.2 3643 119395735 NM_000208.2 INSR NP_000199.2 ILMN_1670918 6650440 S 4271 TGGCGGGGGCGGGCAGGGGTTCCCATTTTCGCTTTCCTCTGGTTTGAAAG 19 - 7068004-7068053 19p13.2e "Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [pmid 8452530] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2986535] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9092559] [evidence IDA]; A small pit, depression, or invagination, such as any of the minute pits or incuppings of the cell membrane formed during pinocytosis, that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Such caveolae may be pinched off to form free vesicles within the cytoplasm [goid 5901] [pmid 15182363] [evidence IDA]; The lipid bilayer surrounding an endosome [goid 10008] [pmid 2986535] [evidence EXP]" "The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The series of molecular signals generated as a consequence of a transmembrane receptor tyrosine kinase binding to its physiological ligand [goid 7169] [evidence IEA]; The initiation of the activity of the inactive enzyme MAP kinase by phosphorylation by a MAPKK [goid 187] [pmid 17001305] [evidence IMP]; The developmental process by which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 3007] [pmid 7693131] [evidence IMP]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 9092559] [evidence IDA]; The series of molecular signals generated as a consequence of the insulin receptor binding to insulin [goid 8286] [pmid 8440175] [evidence IDA]; Any virus-induced change in the morphological, biochemical, or growth parameters of a cell [goid 19087] [pmid 17001305] [evidence IMP]; The specification of male sex of an individual organism [goid 30238] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of cell migration [goid 30335] [pmid 12138094] [evidence IMP]; Any process that modulates the DNA-dependent transcription of a specific gene or genes [goid 32583] [pmid 12881524] [evidence IMP]; Any process involved in the maintenance of an internal equilibrium of glucose within an organism or cell [goid 42593] [pmid 7693131] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide [goid 45429] [pmid 10747347] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of DNA replication [goid 45740] [pmid 12138094] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of glycolysis [goid 45821] [pmid 7693131] [evidence IMP]; Any process that modulates the frequency, rate or extent of embryonic development [goid 45995] [pmid 7693131] [evidence IMP]; The phosphorylation by a protein of one or more of its own amino acid residues, or residues on an identical protein [goid 46777] [pmid 7537849] [evidence IMP]; Any process that activates, maintains or increases the rate of developmental growth [goid 48639] [pmid 7693131] [evidence IMP]; The formation of a protein tetramer, a macromolecular structure consisting of four noncovalently associated nonidentical subunits [goid 51290] [pmid 1898103] [evidence IDA]; Any process that increases the rate frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals [goid 60267] [pmid 9092559] [evidence IDA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate, to initiate a change in cell activity [goid 4714] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; [goid 4716] [pmid 6849137] [evidence IDA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with insulin to initiate a change in cell activity [goid 5009] [pmid 8440175] [evidence IDA]; Interacting selectively with the insulin-like growth factor receptor [goid 5159] [pmid 8452530] [evidence IDA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [pmid 9092559] [evidence IDA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with insulin-like growth factor I [goid 31994] [pmid 8452530] [evidence IPI]; Interacting selectively with insulin-like growth factor II [goid 31995] [pmid 12138094] [evidence IPI]; Interacting selectively with a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class [goid 42169] [pmid 8276809] [evidence IPI]; Interacting selectively with a phosphoinositide 3-kinase, any enzyme that catalyzes the addition of a phosphate group to an inositol lipid at the 3' position of the inositol ring [goid 43548] [pmid 8276809] [evidence IPI]; Interacting selectively with a phosphoinositide 3-kinase, any enzyme that catalyzes the addition of a phosphate group to an inositol lipid at the 3' position of the inositol ring [goid 43548] [pmid 7537849] [evidence IPI]; Interacting selectively with insulin, a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms [goid 43559] [pmid 8440175] [evidence IDA]; Interacting selectively with any of the insulin receptor substrate (IRS) proteins, adaptor proteins that bind to the transphosphorylated insulin and insulin-like growth factor receptors, are themselves phosphorylated and in turn recruit SH2 domain-containing signaling molecules to form a productive signaling complex [goid 43560] [pmid 7559478] [evidence IPI]; Interacting selectively with any of the insulin receptor substrate (IRS) proteins, adaptor proteins that bind to the transphosphorylated insulin and insulin-like growth factor receptors, are themselves phosphorylated and in turn recruit SH2 domain-containing signaling molecules to form a productive signaling complex [goid 43560] [pmid 7537849] [evidence IPI]; Interacting selectively with a phosphotyrosine-binding (PTB) domain of a protein [goid 51425] [pmid 7559478] [evidence IPI]" CD220; HHF5 CD220; HHF5 Transcription factor -> Homeobox transcription factor Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Mesoderm development -> Gut mesoderm development Homo sapiens RefSeq ILMN_25809 ILMN_25809 IPF1 NM_000209.1 NM_000209.1 3651 4557672 NM_000209.1 IPF1 NP_000200.1 ILMN_1742993 2360372 S 1239 CGCACATCCCTGCCCTCCTACAGCACTCCACCTTGGGACCTGTTTAGAGA 13 + 27397126-27397175 13q12.2b "Homo sapiens insulin promoter factor 1, homeodomain transcription factor (IPF1), mRNA." IDX-1; IUF1; STF-1; MODY4; PDX-1; PDX1 STF-1; MODY4; IDX-1; PDX-1; PDX1; IUF1 Cell adhesion molecule -> Other cell adhesion molecule Cell adhesion Homo sapiens RefSeq ILMN_26997 ILMN_26997 ITGA6 NM_000210.2 NM_000210.2 3655 119395741 NM_000210.2 ITGA6 NP_000201.2 ILMN_2359287 2140678 A 5334 GTCCTGAAAAGGGTGTTGGGAGGGTGGTTCAACAAAGAAACAAAGATGTT 2 + 173078951-173079000 2q31.1d "Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 2, mRNA." "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; A protein complex that is composed of one alpha subunit and one beta subunit, both of which are members of the integrin superfamily of cell adhesion receptors; the complex spans the plasma membrane and binds to extracellular matrix ligands, cell-surface ligands, and soluble ligands [goid 8305] [evidence IEA]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis [goid 16323] [evidence IEA]" "The aggregation, arrangement and bonding together of a set of components to form a junction between a cell and its substrate [goid 7044] [pmid 9185503] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [evidence IEA]; Any series of molecular signals generated as a consequence of an integrin binding to one of its physiological ligands [goid 7229] [evidence IEA]; Any process that activates or increases the rate or extent of cell adhesion to another cell [goid 22409] [evidence IEA]; The process whose specific outcome is the progression of a dentine-containing tooth over time, from its formation to the mature structure. A dentine-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and are composed mainly of dentine, a dense calcified substance, covered by a layer of enamel [goid 42475] [evidence IEA]; The assembly of a filopodium, a very long microspike extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or by the growth cone of a developing nerve cell axon [goid 46847] [evidence IEA]; The movement of leukocytes within or between different tissues and organs of the body [goid 50900] [evidence IEA]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] VLA-6; ITGA6B; CD49f VLA-6; ITGA6B; CD49f Cell adhesion molecule -> Other cell adhesion molecule Cell adhesion Homo sapiens RefSeq ILMN_26997 ILMN_26997 ITGA6 NM_000210.2 NM_000210.2 3655 119395741 NM_000210.2 ITGA6 NP_000201.2 ILMN_2267488 7570608 I 3372 GCTGAGATCCATGCTCAGCCATCTGATAAAGAGAGGCTTACTTCTGATGC 2 + 173074800-173074849 2q31.1d "Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 2, mRNA." "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; A protein complex that is composed of one alpha subunit and one beta subunit, both of which are members of the integrin superfamily of cell adhesion receptors; the complex spans the plasma membrane and binds to extracellular matrix ligands, cell-surface ligands, and soluble ligands [goid 8305] [evidence IEA]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis [goid 16323] [evidence IEA]" "The aggregation, arrangement and bonding together of a set of components to form a junction between a cell and its substrate [goid 7044] [pmid 9185503] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [evidence IEA]; Any series of molecular signals generated as a consequence of an integrin binding to one of its physiological ligands [goid 7229] [evidence IEA]; Any process that activates or increases the rate or extent of cell adhesion to another cell [goid 22409] [evidence IEA]; The process whose specific outcome is the progression of a dentine-containing tooth over time, from its formation to the mature structure. A dentine-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and are composed mainly of dentine, a dense calcified substance, covered by a layer of enamel [goid 42475] [evidence IEA]; The assembly of a filopodium, a very long microspike extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or by the growth cone of a developing nerve cell axon [goid 46847] [evidence IEA]; The movement of leukocytes within or between different tissues and organs of the body [goid 50900] [evidence IEA]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] VLA-6; ITGA6B; CD49f VLA-6; ITGA6B; CD49f Receptor -> Other receptor;Cell adhesion molecule Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Signal transduction -> Cell communication -> Extracellular matrix protein-mediated signaling;Cell adhesion Homo sapiens RefSeq ILMN_42184 ILMN_42184 ITGB2 NM_000211.2 NM_000211.2 3689 89191864 NM_000211.2 ITGB2 NP_000202.2 ILMN_2175912 3890373 S 2677 GGAGGGCTTGAGGTTGGTGAGGTTAGGTGCGTGTTTCCTGTGCAAGTCAG 21 - 45130437-45130486 21q22.3e "Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), mRNA." "A protein complex that is composed of one alpha subunit and one beta subunit, both of which are members of the integrin superfamily of cell adhesion receptors; the complex spans the plasma membrane and binds to extracellular matrix ligands, cell-surface ligands, and soluble ligands [goid 8305] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 11857637] [evidence EXP]; A protein complex that is composed of one alpha subunit and one beta subunit, both of which are members of the integrin superfamily of cell adhesion receptors; the complex spans the plasma membrane and binds to extracellular matrix ligands, cell-surface ligands, and soluble ligands [goid 8305] [pmid 12885943] [evidence NAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions [goid 45121] [evidence IEA]" "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [evidence IEA]; Any series of molecular signals generated as a consequence of an integrin binding to one of its physiological ligands [goid 7229] [evidence IEA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [pmid 12885943] [evidence NAS]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 12885943] [evidence NAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 1694220] [evidence TAS]; The attachment of a leukocyte to another cell via adhesion molecules [goid 7159] [pmid 12885943] [evidence IDA]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [evidence IEA]; Any series of molecular signals generated as a consequence of an integrin binding to one of its physiological ligands [goid 7229] [pmid 12885943] [evidence NAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 12885943] [evidence NAS]; Any process that modulates the surface configuration of a cell [goid 8360] [pmid 12885943] [evidence NAS]; The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding [goid 30593] [pmid 12885943] [evidence IDA]; The migration of leukocytes from the blood vessels into the surrounding tissue [goid 45123] [evidence IEA]; Any process that modulates the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine [goid 50730] [pmid 12885943] [evidence IDA]; The expansion of a T cell population following activation by an antigenic stimulus [goid 50798] [evidence IEA]" "Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12885943] [evidence IPI]; Interacting selectively with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate [goid 19901] [pmid 12885943] [evidence IPI]" MAC-1; LFA-1; MF17; LCAMB; MFI7; LAD; CD18 MAC-1; LFA-1; MF17; LCAMB; MFI7; LAD; CD18 Receptor;Cell adhesion molecule;Extracellular matrix -> Extracellular matrix glycoprotein Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Cell adhesion;Immunity and defense -> Blood clotting;Cell structure and motility -> Cell motility Homo sapiens RefSeq ILMN_22418 ILMN_22418 ITGB3 NM_000212.2 NM_000212.2 3690 47078291 NM_000212.2 ITGB3 NP_000203.2 ILMN_1733324 1470685 S 4613 CCAAGAAGTCCTTAGAAATAGTGGCAGGGAACAGGTGTGGAAGCTCATGC 17 + 42744795-42744844 17q21.32a "Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA." "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3607284] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10605720] [evidence EXP]; A protein complex that is composed of one alpha subunit and one beta subunit, both of which are members of the integrin superfamily of cell adhesion receptors; the complex spans the plasma membrane and binds to extracellular matrix ligands, cell-surface ligands, and soluble ligands [goid 8305] [pmid 1438206] [evidence TAS]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; The lipid bilayer surrounding the platelet alpha granule [goid 31092] [pmid 3607284] [evidence EXP]" "The aggregation, arrangement and bonding together of a set of components to form a junction between a cell and its substrate [goid 7044] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 2452834] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 10429193] [evidence TAS]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [evidence IEA]; Any series of molecular signals generated as a consequence of an integrin binding to one of its physiological ligands [goid 7229] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 1438206] [evidence TAS]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [evidence IEA]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with an integrin [goid 5178] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 11606749] [evidence IPI] GP3A; CD61; GPIIIa GP3A; CD61; GPIIIa Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_26306 ILMN_26306 ITGB4 NM_000213.3 NM_000213.3 3691 54607034 NM_000213.3 ITGB4 NP_000204.3 ILMN_1653965 6550379 I 4307 AAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGCGCGTCACGTG 17 + 71261452-71261501 17q25.1c-q25.1d "Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA." "A protein complex that is composed of one alpha subunit and one beta subunit, both of which are members of the integrin superfamily of cell adhesion receptors; the complex spans the plasma membrane and binds to extracellular matrix ligands, cell-surface ligands, and soluble ligands [goid 8305] [evidence IEA]; A protein complex that is composed of one alpha subunit and one beta subunit, both of which are members of the integrin superfamily of cell adhesion receptors; the complex spans the plasma membrane and binds to extracellular matrix ligands, cell-surface ligands, and soluble ligands [goid 8305] [pmid 7545057] [evidence TAS]; The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis [goid 9925] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment [goid 7154] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 2311577] [evidence NAS]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [evidence IEA]; Any series of molecular signals generated as a consequence of an integrin binding to one of its physiological ligands [goid 7229] [evidence IEA]; The assembly of a filopodium, a very long microspike extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or by the growth cone of a developing nerve cell axon [goid 46847] [evidence IEA]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11375975] [evidence IPI] CD104 CD104 Receptor;Signaling molecule -> Membrane-bound signaling molecule;Transcription factor;Defense/immunity protein Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Immunity and defense;Developmental processes -> Ectoderm development -> Neurogenesis;Cell proliferation and differentiation;Cell structure and motility -> Cell motility Homo sapiens RefSeq ILMN_21187 ILMN_21187 JAG1 NM_000214.1 NM_000214.1 182 4557678 NM_000214.1 JAG1 NP_000205.1 ILMN_1691376 1010376 S 5648 CTGCCACCCTGCTGAGTCTGTTCTGGTAATCGGGGTATAATAGGCTCTGC 20 - 10566517-10566566 20p12.2a "Homo sapiens jagged 1 (Alagille syndrome) (JAG1), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 11427524] [evidence NAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 11427524] [evidence NAS] "Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels [goid 1525] [pmid 8955070] [evidence NAS]; Process involved in cell fate commitment. Once determination has taken place, a cell becomes committed to differentiate down a particular pathway regardless of its environment [goid 1709] [pmid 9207788] [evidence NAS]; The process by which the anatomical structures of an epithelial sheet are generated and organized. Morphogenesis pertains to the creation of form. An epithelial sheet is a flat surface consisting of closely packed epithelial cells [goid 2011] [evidence IEA]; Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment [goid 7154] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence NAS]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 8923452] [evidence NAS]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [evidence IEA]; The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates [goid 30097] [pmid 10329626] [evidence NAS]; The process whereby a relatively unspecialized cell acquires specialized features of a keratinocyte [goid 30216] [pmid 12107827] [evidence NAS]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [pmid 11549580] [evidence NAS]; Any process that modulates the frequency, rate or extent of cell proliferation [goid 42127] [pmid 10329626] [evidence NAS]; The process whereby a relatively unspecialized cell acquires specialized features of an auditory hair cell [goid 42491] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a myoblast. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers [goid 45445] [pmid 10329626] [evidence NAS]; The process whereby a relatively unspecialized cell acquires specialized features of an endothelial cell, a thin flattened cell. A layer of such cells lines the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium [goid 45446] [pmid 10329626] [evidence NAS]; Any process that stops, prevents or reduces the frequency, rate or extent of cell differentiation [goid 45596] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of myeloid cell differentiation [goid 45639] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of the Notch signaling pathway [goid 45747] [evidence IEA]; The process whose specific outcome is the progression of the inner ear over time, from its formation to the mature structure [goid 48839] [evidence IEA]" "Interacting selectively with the Notch (N) protein, a surface receptor [goid 5112] [pmid 9268641] [evidence NAS]; The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 10679295] [evidence NAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [pmid 11067884] [evidence NAS]" CD339; AWS; HJ1; JAGL1; MGC104644; AGS; AHD CD339; AWS; HJ1; JAGL1; MGC104644; AGS; AHD Kinase -> Protein kinase -> Non-receptor tyrosine protein kinase Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Signal transduction -> Intracellular signaling cascade -> JAK-STAT cascade;Apoptosis;Developmental processes -> Mesoderm development;Cell cycle -> Cell cycle control;Cell proliferation and differentiation;Cell structure and motility -> Cell motility Homo sapiens RefSeq ILMN_16475 ILMN_16475 JAK3 NM_000215.2 NM_000215.2 3718 47157314 NM_000215.2 JAK3 NP_000206.2 ILMN_1739667 460632 S 3687 ACCAAATTTAAGACTCTCGCATCTTCCCAACCCCTTAAGCCCTGGCCCCC 19 - 17798249-17798298 19p13.11d "Homo sapiens Janus kinase 3 (a protein tyrosine kinase, leukocyte) (JAK3), mRNA." "Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles [goid 12505] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [pmid 8022790] [evidence TAS] "Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate [goid 4713] [evidence IEA]; [goid 4718] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate [goid 4715] [evidence IEA]; [goid 4718] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9045636] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" JAKL; LJAK; JAK3_HUMAN; L-JAK; JAK-3 JAKL; LJAK; JAK3_HUMAN; L-JAK; JAK-3 Cell adhesion molecule Cell adhesion;Neuronal activities -> Other neuronal activity Homo sapiens RefSeq ILMN_3550 ILMN_178537 KAL1 NM_000216.2 NM_000216.2 3730 119395745 NM_000216.2 KAL1 NP_000207.2 ILMN_1750373 6620008 S 5906 GTGTCAGGTACGGAGAGGATTCTCATGACTGTCTTACCTCTACTGAATAT X - 8457273-8457322 Xp22.31b "Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [pmid 8832397] [evidence TAS]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 8842728] [evidence TAS]; The external part of the cell wall and/or plasma membrane [goid 9986] [evidence IEA]" "Any process involved in the controlled movement of a cell [goid 6928] [pmid 1922361] [evidence TAS]; The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) [goid 6935] [pmid 8842728] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 1922361] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 1913827] [evidence TAS]; The process by which the migration of an axon growth cone is directed to a specific target site in response to a combination of attractive and repulsive cues [goid 7411] [pmid 1922361] [evidence TAS]" "Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [evidence IEA]; The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [pmid 8842728] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]" KAL; KMS; HHA; ADMLX; KALIG-1 KAL; KMS; HHA; ADMLX; KALIG-1 Ion channel -> Voltage-gated ion channel -> Voltage-gated potassium channel Transport -> Ion transport -> Cation transport;Neuronal activities -> Action potential propagation Homo sapiens RefSeq ILMN_10845 ILMN_10845 KCNA1 NM_000217.1 NM_000217.1 3736 4557684 NM_000217.1 KCNA1 NP_000208.1 ILMN_1670954 1690309 S 1139 CTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGT 12 + 4891944-4891993 12p13.32a "Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA." "A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential [goid 8076] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential [goid 8076] [pmid 8845167] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [pmid 8845167] [evidence TAS]; The process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse [goid 7268] [pmid 7842011] [evidence TAS]" Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of the transmembrane transfer of a potassium ion by a voltage-gated channel [goid 5249] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; [goid 5251] [pmid 8845167] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the transfer of potassium ions (K+) from one side of a membrane to the other [goid 15079] [pmid 8845167] [evidence TAS]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA] HUK1; MGC126782; MBK1; RBK1; AEMK; EA1; KV1.1; MK1 HUK1; RBK1; MGC126782; AEMK; MBK1; EA1; KV1.1; MK1 Ion channel -> Voltage-gated ion channel -> Voltage-gated potassium channel Transport -> Ion transport -> Cation transport Homo sapiens RefSeq ILMN_22163 ILMN_22163 KCNQ1 NM_000218.2 NM_000218.2 3784 32479526 NM_000218.2 KCNQ1 NP_000209.2 ILMN_2409520 3890437 A 3197 TGCAGTTCCCCTGGAAGCAGTGCCCAGGTGGCTGTGGAATAGGAACGCTA 11 + 2826867-2826916 11p15.5a-p15.4d "Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA." "A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential [goid 8076] [pmid 8900283] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [pmid 8900283] [evidence TAS]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 8528244] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 9020846] [evidence TAS]; The flow of blood through the body of an animal, enabling the transport of O2 and nutrients to the tissues and the removal of waste products [goid 8015] [pmid 8528244] [evidence NAS]; Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process by which the heart decreases in volume in a characteristic way to propel blood through the body [goid 8016] [pmid 9020846] [evidence TAS]" Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; [goid 5251] [pmid 8900283] [evidence TAS]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA] JLNS1; ATFB1; WRS; LQT; Kv1.9; RWS; Kv7.1; FLJ26167; SQT2; KCNA8; KVLQT1; KCNA9; LQT1 JLNS1; ATFB1; WRS; LQT; Kv1.9; RWS; Kv7.1; FLJ26167; SQT2; KCNA8; KVLQT1; KCNA9; LQT1 Ion channel -> Voltage-gated ion channel -> Voltage-gated potassium channel Transport -> Ion transport -> Cation transport Homo sapiens RefSeq ILMN_22163 ILMN_22163 KCNQ1 NM_000218.2 NM_000218.2 3784 32479526 NM_000218.2 KCNQ1 NP_000209.2 ILMN_1656079 4780022 I 10 CTGGCAGCAGTGGCTGCCCGCACTGCGCCCGGGCGCTCGCCTTCGCTGCA 11 + 2422806-2422855 11p15.5a-p15.4d "Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA." "A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential [goid 8076] [pmid 8900283] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [pmid 8900283] [evidence TAS]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 8528244] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 9020846] [evidence TAS]; The flow of blood through the body of an animal, enabling the transport of O2 and nutrients to the tissues and the removal of waste products [goid 8015] [pmid 8528244] [evidence NAS]; Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process by which the heart decreases in volume in a characteristic way to propel blood through the body [goid 8016] [pmid 9020846] [evidence TAS]" Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; [goid 5251] [pmid 8900283] [evidence TAS]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA] JLNS1; ATFB1; WRS; LQT; Kv1.9; RWS; Kv7.1; FLJ26167; SQT2; KCNA8; KVLQT1; KCNA9; LQT1 JLNS1; ATFB1; WRS; LQT; Kv1.9; RWS; Kv7.1; FLJ26167; SQT2; KCNA8; KVLQT1; KCNA9; LQT1 Ion channel -> Voltage-gated ion channel -> Voltage-gated potassium channel Transport -> Ion transport -> Cation transport;Muscle contraction;Blood circulation and gas exchange Homo sapiens RefSeq ILMN_164689 ILMN_164689 KCNE1 NM_000219.2 NM_000219.2 3753 60218914 NM_000219.2 KCNE1 NP_000210.2 ILMN_2047618 2470554 S 3220 AGGCAGAGGGAGATCCCTATGGCGTTAGTCTTCCCAGGCCTTAAAGGGCC 21 - 34741158-34741207 21q22.12a "Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), mRNA." "A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 16780588] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 16780588] [evidence IDA]; A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential [goid 8076] [pmid 8900283] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The region of the plasma membrane located at the apical end of the cell [goid 16324] [evidence IEA]" "The developmental process, independent of morphogenetic (shape) change, that is required for an epithelial cell to attain its fully functional state. An epithelial cell is a cell usually found in a two-dimensional sheet with a free surface [goid 2070] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [pmid 8900283] [evidence TAS]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 9020846] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 9020846] [evidence TAS]; The flow of blood through the body of an animal, enabling the transport of O2 and nutrients to the tissues and the removal of waste products [goid 8015] [pmid 9020846] [evidence NAS]; Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process by which the heart decreases in volume in a characteristic way to propel blood through the body [goid 8016] [pmid 9445165] [evidence TAS]" Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; [goid 5251] [pmid 9354802] [evidence TAS]; [goid 15459] [pmid 9230439] [evidence TAS]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA] JLNS2; MGC33114; ISK; MinK; LQT5; JLNS MinK; LQT5; JLNS2; MGC33114; JLNS; ISK Ion channel -> Voltage-gated ion channel -> Voltage-gated potassium channel Transport -> Ion transport -> Cation transport Homo sapiens RefSeq ILMN_14820 ILMN_14820 KCNJ1 NM_000220.2 NM_000220.2 3758 24497465 NM_000220.2 KCNJ1 NP_000211.1 ILMN_2270802 5820609 I 20 CAACCAGCACCACTTCCTTGCTTTTTCCAGCCATGAATGCTTCCAGTCGG 11 - 128217504-128217522:128217523-128217553 11q24.3a "Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA." "A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential [goid 8076] [pmid 9015377] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [pmid 9015377] [evidence TAS]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 9015377] [evidence TAS]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; [goid 5242] [pmid 9015377] [evidence TAS]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; [goid 15272] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]" KIR1.1; ROMK1; ROMK KIR1.1; ROMK1; ROMK Kinase -> Carbohydrate kinase Carbohydrate metabolism -> Monosaccharide metabolism Homo sapiens RefSeq ILMN_8355 ILMN_8355 KHK NM_000221.2 NM_000221.2 3795 153218446 NM_000221.2 KHK NP_000212.1 ILMN_1678173 5050022 I 762 ACCTACGCTACACAGTCTTTCAGACCACAGGCTCCGTCCCCATCGCCACG 2 + 27170884-27170933 2p23.3a "Homo sapiens ketohexokinase (fructokinase) (KHK), transcript variant a, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11256614] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]" "Catalysis of the reaction: ATP + D-fructose = ADP + D-fructose 1-phosphate [goid 4454] [pmid 7833921] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" Kinase -> Carbohydrate kinase Carbohydrate metabolism -> Monosaccharide metabolism Homo sapiens RefSeq ILMN_8355 ILMN_8355 KHK NM_000221.2 NM_000221.2 3795 153218446 NM_000221.2 KHK NP_000212.1 ILMN_1706690 540164 A 2110 ATGTGACCCAGGATACAGAGTGTTGCTGTCCTCAGGGAGGTCCGATCTGG 2 + 27176818-27176867 2p23.3a "Homo sapiens ketohexokinase (fructokinase) (KHK), transcript variant a, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11256614] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]" "Catalysis of the reaction: ATP + D-fructose = ADP + D-fructose 1-phosphate [goid 4454] [pmid 7833921] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" Receptor -> Protein kinase receptor -> Tyrosine protein kinase receptor;Kinase -> Protein kinase -> Tyrosine protein kinase receptor Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Immunity and defense -> Stress response;Developmental processes -> Gametogenesis;Developmental processes -> Embryogenesis;Cell proliferation and differentiation;Oncogenesis;Cell structure and motility -> Cell motility Homo sapiens RefSeq ILMN_8258 ILMN_8258 KIT NM_000222.1 NM_000222.1 3815 4557694 NM_000222.1 KIT NP_000213.1 ILMN_2229379 5080576 S 4756 ATAGATGTCTAGGTACTTCAGGGGCACTTCATTGAGAGTTTTGTCTTGCC 4 + 55301284-55301333 4q12c "Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), mRNA." "The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 18029348] [evidence IDA]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The series of molecular signals generated as a consequence of a transmembrane receptor tyrosine kinase binding to its physiological ligand [goid 7169] [evidence IEA]; A series of reactions, mediated by protein kinases, which occurs as a result of a single trigger reaction or compound [goid 7243] [evidence IEA]; Any process that activates or increases the rate or extent of cell proliferation [goid 8284] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation [goid 9314] [evidence IEA]; The posttranslational phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine [goid 18108] [evidence IEA]; Any series of molecular signals generated as a consequence of a cytokine or chemokine binding to a cell surface receptor [goid 19221] [evidence IEA]; The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates [goid 30097] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of MAP kinase activity [goid 43406] [evidence IEA]; The deposition of coloring matter in an organism, tissue or cell, occurring during development [goid 48066] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 9990072] [evidence TAS]; The series of molecular signals generated as a consequence of a transmembrane receptor tyrosine kinase binding to its physiological ligand [goid 7169] [evidence IEA]; A series of reactions, mediated by protein kinases, which occurs as a result of a single trigger reaction or compound [goid 7243] [evidence IEA]; Any process that activates or increases the rate or extent of cell proliferation [goid 8284] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation [goid 9314] [evidence IEA]; The posttranslational phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine [goid 18108] [evidence IEA]; Any series of molecular signals generated as a consequence of a cytokine or chemokine binding to a cell surface receptor [goid 19221] [evidence IEA]; The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates [goid 30097] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of MAP kinase activity [goid 43406] [evidence IEA]; The deposition of coloring matter in an organism, tissue or cell, occurring during development [goid 48066] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with stem cell factor, a cytokine that stimulates mast cell growth and differentiation, to initiate a change in cell activity [goid 5020] [evidence IEA]; Combining with vascular endothelial growth factor to initiate a change in cell activity [goid 5021] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; [goid 4716] [pmid 9438854] [evidence TAS]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with stem cell factor, a cytokine that stimulates mast cell growth and differentiation, to initiate a change in cell activity [goid 5020] [evidence IEA]; Combining with vascular endothelial growth factor to initiate a change in cell activity [goid 5021] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17662946] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" CD117; SCFR; C-Kit CD117; SCFR; C-Kit Cytoskeletal protein -> Intermediate filament;Miscellaneous function -> Structural protein Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_22735 ILMN_22735 KRT12 NM_000223.2 NM_000223.2 3859 47132618 NM_000223.2 KRT12 NP_000214.1 ILMN_1781884 870433 S 1424 CCCGAAAAATCAAGACAGTTGTGCAGGAGATGGTGAATGGTGAGGTGGTC 17 - 36271474-36271523 17q21.2a "Homo sapiens keratin 12 (Meesmann corneal dystrophy) (KRT12), mRNA." "A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins [goid 5882] [evidence IEA]" "The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 9171831] [evidence TAS]" The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 9171831] [evidence NAS] K12 K12 Cytoskeletal protein -> Intermediate filament;Miscellaneous function -> Structural protein Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_22543 ILMN_22543 KRT18 NM_000224.2 NM_000224.2 3875 40354193 NM_000224.2 KRT18 NP_000215.1 ILMN_1803408 110431 I 31 ATATAACTCGGGTCGCGCGGCTCGCGCAGGCCGCCACCGTCGTCCGCAAA 12 + 51629140-51629189 12q13.13e "Homo sapiens keratin 18 (KRT18), transcript variant 1, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16424149] [evidence IDA]; A region in a eukaryotic cell, such as a centrosome or basal body, from which microtubules grow [goid 5815] [pmid 18000879] [evidence IDA]; A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; cetriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome [goid 34451] [pmid 18000879] [evidence IDA]; A filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. The keratins are the most diverse classes of IF proteins, with a large number of keratin isoforms being expressed. Each type of epithelium always expresses a characteristic combination of type I and type II keratins [goid 45095] [pmid 16424149] [evidence IDA]" "The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; The process by which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form [goid 9653] [pmid 2434380] [evidence TAS]; A series of molecular signals generated as a consequence of tumor necrosis factor binding to a cell surface receptor [goid 33209] [evidence IEA]; The directed movement of Cystic Fibrosis Transmembrane conductance Regulator (CFTR) protein from the Golgi to the plasma membrane [goid 43000] [pmid 15529338] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [pmid 11684708] [evidence IDA]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]" The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10954706] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11684708] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10954706] [evidence IPI] K18; CYK18 K18; CYK18 Cytoskeletal protein -> Intermediate filament;Miscellaneous function -> Structural protein Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_15527 ILMN_15527 KRT9 NM_000226.2 NM_000226.2 3857 55956898 NM_000226.2 KRT9 NP_000217.2 ILMN_1792568 5820291 S 2213 ACCTCTTTCCTCTCTCTGGCCTGGGGTGCTCTCACACCCTGCACGATCTT 17 - 36975646-36975695 17q21.2b "Homo sapiens keratin 9 (epidermolytic palmoplantar keratoderma) (KRT9), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 18029348] [evidence IDA]; A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins [goid 5882] [evidence IEA]" "The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [evidence IEA]; The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue [goid 43588] [pmid 7507869] [evidence IDA]; Control of the spatial distribution of intermediate filaments; includes organizing filaments into meshworks, bundles, or other structures, as by cross-linking [goid 45109] [pmid 10218578] [evidence IMP]" The action of a molecule that contributes to the structural integrity of a cytoskeletal structure [goid 5200] [pmid 8647270] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17373842] [evidence IPI] EPPK; K9 K9; EPPK Extracellular matrix -> Extracellular matrix linker protein Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Signal transduction -> Cell communication -> Extracellular matrix protein-mediated signaling;Cell adhesion Homo sapiens RefSeq ILMN_6010 ILMN_6010 LAMA3 NM_000227.2 NM_000227.2 3909 38045907 NM_000227.2 LAMA3 NP_000218.2 ILMN_1704247 4670553 I 78 TCTGGGCTACAGTTCACAGCAGCAAAGGGTGCCATTTCTTCAGCCTCCCG 18 + 19707081-19707130 18q11.2b-q11.2c "Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 2, mRNA." "A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [evidence IEA]; A laminin complex composed of alpha1, beta1 and gamma1 polypeptide chains [goid 5606] [evidence IEA]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [evidence IEA]; A laminin complex composed of alpha1, beta1 and gamma1 polypeptide chains [goid 5606] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [pmid 8586427] [evidence TAS]; A laminin complex composed of alpha1, beta1 and gamma1 polypeptide chains [goid 5606] [evidence IEA]" "Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix [goid 30155] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [evidence IEA]; Any process that modulates the frequency, rate or extent of embryonic development [goid 45995] [evidence IEA]; Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix [goid 30155] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [evidence IEA]; Any process that modulates the frequency, rate or extent of embryonic development [goid 45995] [evidence IEA]; The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 8586427] [evidence TAS]; Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix [goid 30155] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [evidence IEA]; Any process that modulates the frequency, rate or extent of embryonic development [goid 45995] [evidence IEA]" "Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [evidence IEA]; Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [evidence IEA]; Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 8586427] [evidence NAS]" LOCS; E170; lama3a; LAMNA LOCS; E170; lama3a; LAMNA Extracellular matrix -> Extracellular matrix linker protein Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Signal transduction -> Cell communication -> Extracellular matrix protein-mediated signaling;Cell adhesion Homo sapiens RefSeq ILMN_1092 ILMN_1092 LAMB3 NM_000228.2 NM_000228.2 3914 62868214 NM_000228.2 LAMB3 NP_000219.2 ILMN_1715684 730040 A 3668 ACAGCTTCCAGCCCGTTGCCCCACTCATCTGCCGCCTTTGCTTTTGGTTG 1 - 207855184-207855233 1q32.2b "Homo sapiens laminin, beta 3 (LAMB3), transcript variant 1, mRNA." A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [evidence IEA] "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 7774918] [evidence TAS]" The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 7550320] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] LAMNB1 LAMNB1 Extracellular matrix -> Extracellular matrix linker protein Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Signal transduction -> Cell communication -> Extracellular matrix protein-mediated signaling;Cell adhesion Homo sapiens RefSeq ILMN_1092 ILMN_1092 LAMB3 NM_000228.2 NM_000228.2 3914 62868214 NM_000228.2 LAMB3 NP_000219.2 ILMN_1680054 6350243 I 40 GGGAGACCCCCACATTCAAGAGGAGCTTTCAGGCGATCTGGAGAAAGAAC 1 - 207892354-207892403 1q32.2b "Homo sapiens laminin, beta 3 (LAMB3), transcript variant 1, mRNA." A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [evidence IEA] "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 7774918] [evidence TAS]" The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 7550320] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] LAMNB1 LAMNB1 Transferase -> Acyltransferase Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Cholesterol metabolism Homo sapiens RefSeq ILMN_29730 ILMN_29730 LCAT NM_000229.1 NM_000229.1 3931 4557891 NM_000229.1 LCAT NP_000220.1 ILMN_1815102 1170112 S 1301 GACTGCCAGCCCAGAGCCCCCGCCTCCTGAATAAAGACCTTCCTTTGCTA 16 - 66531291-66531307:66531308-66531340 16q22.1b "Homo sapiens lecithin-cholesterol acyltransferase (LCAT), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 10559507] [evidence IDA]; A lipoprotein particle with a high density (typically 1.063-1.21 g/ml) and a diameter of 5-10 nm that contains APOAs and may contain APOCs and APOE; found in blood and carries lipids from body tissues to the liver as part of the reverse cholesterol transport process [goid 34364] [pmid 3104518] [evidence IDA]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways resulting in the formation of phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline [goid 6656] [pmid 11966470] [evidence IDA]; The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus [goid 8202] [evidence IEA]; The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues [goid 8203] [pmid 14651331] [evidence NAS]; The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 42158] [evidence IEA]; Any process involved in the maintenance of an internal equilibrium of cholesterol within an organism or cell [goid 42632] [pmid 4335615] [evidence IDA]; The directed movement of periperal cell cholesterol, cholest-5-en-3-beta-ol, towards the liver for catabolism [goid 43691] [pmid 4335615] [evidence IDA]" "Catalysis of the reaction: phosphatidylcholine + a sterol = a sterol ester + 1-acylglycerophosphocholine [goid 4607] [pmid 11966470] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11435418] [evidence IPI]; Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with apolipoprotein A-I [goid 34186] [pmid 1587806] [evidence IPI]" Signaling molecule -> Peptide hormone Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway Homo sapiens RefSeq ILMN_10827 ILMN_10827 LEP NM_000230.1 NM_000230.1 3952 4557714 NM_000230.1 LEP NP_000221.1 ILMN_2207505 840309 S 3258 CGGGAGGCTGAGACAGGAGAATCGCTTAAACCTGGGAGGCGGAGAGTACA 7 + 127684749-127684798 7q32.1a "Homo sapiens leptin (obesity homolog, mouse) (LEP), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence ISS]" "The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides [goid 6006] [evidence IEA]; [goid 6112] [pmid 9537324] [evidence TAS]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues [goid 8203] [evidence IEA]; The chemical reactions and pathways involving bile acids, any of a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine [goid 8206] [evidence IEA]; Feeding behavior in a fully developed and mature organism [goid 8343] [evidence ISS]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism [goid 19222] [evidence IEA]; Any process that modulates the frequency, rate or extent of absorption of cholesterol into the blood, and the exclusion of other sterols from absorption [goid 30300] [evidence IEA]; Any process that reduces appetite [goid 32099] [evidence ISS]; The specific actions or reactions of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue [goid 42755] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of myeloid cell differentiation [goid 45639] [evidence IEA]" "The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [evidence IEA]" OB; OBS OB; OBS Cytoskeletal protein Biological process unclassified Homo sapiens RefSeq ILMN_28150 ILMN_28150 SGCG NM_000231.1 NM_000231.1 6445 4557846 NM_000231.1 SGCG NP_000222.1 ILMN_1659649 5670082 S 1302 GTGGGCACACACTGAGTGTTGAGTTGCCGTGTGGAGTTAATGTATGACGC 13 + 22796982-22797031 13q12.12a "Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8641426] [evidence TAS]; A protein complex formed of four sarcoglycans plus sarcospan; there are six known sarcoglycans: alpha-, beta-, gamma-, delta-, epsilon- and zeta-sarcoglycan; all are N-glycosylated single-pass transmembrane proteins. The sarcoglycan-sarcospan complex is a subcomplex of the dystrophin glycoprotein complex, and is fixed to the dystrophin axis by a lateral association with the dystroglycan complex [goid 16012] [pmid 8641426] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 8641426] [evidence TAS]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] SCG3; DMDA1; DMDA; SCARMD2; DAGA4; TYPE; A4; LGMD2C; MGC130048; MAM DAGA4; SCG3; TYPE; DMDA1; A4; DMDA; SCARMD2; LGMD2C; MGC130048; MAM Miscellaneous function -> Structural protein Muscle contraction;Developmental processes -> Mesoderm development -> Muscle development Homo sapiens RefSeq ILMN_162593 ILMN_162593 SGCB NM_000232.3 NM_000232.3 6443 51173146 NM_000232.3 SGCB NP_000223.1 ILMN_2194467 1190162 S 3766 CCACAGTATTCTAGAGACGGGTTGCAATGACAAGGGGGGCAAATGAAATC 4 - 52582042-52582091 4q12a "Homo sapiens sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7581448] [evidence TAS]; A protein complex formed of four sarcoglycans plus sarcospan; there are six known sarcoglycans: alpha-, beta-, gamma-, delta-, epsilon- and zeta-sarcoglycan; all are N-glycosylated single-pass transmembrane proteins. The sarcoglycan-sarcospan complex is a subcomplex of the dystrophin glycoprotein complex, and is fixed to the dystrophin axis by a lateral association with the dystroglycan complex [goid 16012] [pmid 7581448] [evidence TAS]" "A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 8968749] [evidence TAS]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 7581448] [evidence TAS]" LGMD2E; SGC; A3b LGMD2E; SGC; A3b Receptor;Extracellular matrix Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Developmental processes -> Other developmental process Homo sapiens RefSeq ILMN_29890 ILMN_29890 LHCGR NM_000233.2 NM_000233.2 3973 106067656 NM_000233.2 LHCGR NP_000224.2 ILMN_1788098 1470168 S 2883 CTCCTCGTGAGTAGGAACCCTGTCTCAGTGCATTTTGTTTTCCTGCTTCC 2 - 48767560-48767609 2p16.3d "Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA." A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [pmid 10617611] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10617611] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7719343] [evidence TAS] "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by modulation of a nucleotide cyclase activity and a subsequent change in the concentration of a cyclic nucleotide [goid 7187] [pmid 7719343] [evidence TAS]; The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure [goid 8584] [pmid 7719343] [evidence TAS]; The process whose specific outcome is the progression of the male genitalia over time, from its formation to the mature structure [goid 30539] [pmid 9626653] [evidence TAS]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with lutropin-choriogonadotropic hormone to initiate a change in cell activity [goid 4964] [evidence IEA] LHR; LGR2; hLHR; LCGR LHR; LGR2; hLHR; LCGR Nucleic acid binding -> DNA ligase;Ligase -> DNA ligase Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA recombination;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication Homo sapiens RefSeq ILMN_8009 ILMN_8009 LIG1 NM_000234.1 NM_000234.1 3978 4557718 NM_000234.1 LIG1 NP_000225.1 ILMN_1706779 5050113 S 2733 CTTCCCTCGGTTTATTCGAGTCCGTGAAGACAAGCAGCCGGAGCAGGCCA 19 - 53310955-53311004 19q13.32c "Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 8696349] [evidence TAS]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10559261] [evidence EXP]" "The process whereby new strands of DNA are synthesized. The template for replication can either be an existing DNA molecule or RNA [goid 6260] [evidence IEA]; The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [pmid 8696349] [evidence TAS]; Repair of the gap in the DNA helix by DNA polymerase and DNA ligase after the portion of the strand containing the lesion has been removed by pyrimidine-dimer repair enzymes [goid 6297] [pmid 9111189] [evidence EXP]; Any process by which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Intrachromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction [goid 6310] [evidence IEA]; The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; The process by which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form [goid 9653] [pmid 8696349] [evidence TAS]; The process by which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS) [goid 33151] [pmid 9809069] [evidence IDA]; The process resulting in the physical partitioning and separation of a cell into daughter cells [goid 51301] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 8696349] [evidence TAS]; Catalysis of the reaction: ATP + deoxyribonucleotide(n) + deoxyribonucleotide(m) = AMP + diphosphate + deoxyribonucleotide(n+m) [goid 3910] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]" MGC130025; MGC117397 MGC130025; MGC117397 Hydrolase -> Lipase Lipid, fatty acid and steroid metabolism -> Lipid metabolism Homo sapiens RefSeq ILMN_17379 ILMN_17379 LIPA NM_000235.2 NM_000235.2 3988 51317398 NM_000235.2 LIPA NP_000226.2 ILMN_1718063 5360148 S 2207 CCCGCTACTGTCGTTATTGATCACATCTGTGTGAAGCCAAAGCCCCGTGG 10 - 90963676-90963725 10q23.31b "Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 2, mRNA." "A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 1718995] [evidence TAS]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The posttranslational glycosylation of protein via the N4 atom of peptidyl-asparagine or the N1' atom peptidyl-tryptophan [goid 6487] [pmid 1718995] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]" "Catalysis of the reaction: a steryl ester + H2O = a sterol + a fatty acid [goid 4771] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" CESD; LAL CESD; LAL Hydrolase -> Lipase Lipid, fatty acid and steroid metabolism -> Lipid metabolism Homo sapiens RefSeq ILMN_182953 ILMN_182953 LIPC NM_000236.1 NM_000236.1 3990 4557722 NM_000236.1 LIPC NP_000227.1 ILMN_2218002 2350044 S 1392 CTCAGGCCTCGTTCTGAAGACGATCAGAGTCAAAGCAGGAGAAACCCAGC 15 + 56643161-56643210 15q22.1b "Homo sapiens lipase, hepatic (LIPC), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]" "The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]; The directed movement of cholesterol, cholest-5-en-3-beta-ol, into, out of, within or between cells [goid 30301] [evidence IEA]; The posttranslational glycosylation of protein via the N4 atom of peptidyl-asparagine or the N1' atom peptidyl-tryptophan [goid 6487] [pmid 2447084] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]; The directed movement of cholesterol, cholest-5-en-3-beta-ol, into, out of, within or between cells [goid 30301] [evidence IEA]" "Catalysis of the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion [goid 4806] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion [goid 4806] [evidence IEA]; Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" LIPH; HL; HTGL LIPH; HL; HTGL Hydrolase -> Lipase Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport Homo sapiens RefSeq ILMN_2233 ILMN_178211 LPL NM_000237.2 NM_000237.2 4023 145275217 NM_000237.2 LPL NP_000228.1 ILMN_1786444 5560674 S 3409 ACTTAAAAGATTCACTAAAGCAGCACATAGCACTGGGAACTCTGGCTCCG 8 + 19868712-19868761 8p21.3c "Homo sapiens lipoprotein lipase (LPL), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 1969408] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Tethered to a membrane by a covalently attached anchor, such as a lipid moiety, that is embedded in the membrane. When used to describe a protein, indicates that none of the peptide sequence is embedded in the membrane [goid 31225] [evidence IEA]; A large lipoprotein particle (diameter 75-1200 nm) composed of a central core of triglycerides and cholesterol surrounded by a protein-phospholipid coating. The proteins include one molecule of apolipoprotein B-48 and may include a variety of apolipoproteins, including APOAs, APOCs and APOE. Chylomicrons are found in blood or lymph and carry lipids from the intestines into other body tissues [goid 42627] [evidence IEA]" "The chemical reactions and pathways involving triacylglycerol, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triacylglycerols are important components of plant oils, animal fats and animal plasma lipoproteins [goid 6641] [pmid 10727238] [evidence ISS]; The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester [goid 6644] [pmid 10727238] [evidence ISS]; The flow of blood through the body of an animal, enabling the transport of O2 and nutrients to the tissues and the removal of waste products [goid 8015] [pmid 1969408] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]" "Catalysis of the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate [goid 4465] [evidence IEA]; Catalysis of the hydrolysis of a glycerophospholipid [goid 4620] [pmid 10727238] [evidence ISS]; Catalysis of the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion [goid 4806] [pmid 10727238] [evidence ISS]; Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [pmid 10085125] [evidence IPI]; Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [pmid 1969408] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" LIPD; HDLCQ11 LIPD; HDLCQ11 Ion channel -> Voltage-gated ion channel -> Voltage-gated potassium channel Signal transduction -> Cell communication;Transport -> Ion transport -> Cation transport Homo sapiens RefSeq ILMN_169480 ILMN_169480 KCNH2 NM_000238.2 NM_000238.2 3757 26051269 NM_000238.2 KCNH2 NP_000229.1 ILMN_2338809 6900050 A 1796 AAACCCTACAACAGCAGCGGCCTGGGCGGCCCCTCCATCAAGGACAAGTA 7 - 150279581-150279630 7q36.1c "Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential [goid 8076] [pmid 7736582] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; A conserved series of molecular signals found in prokaryotes and eukaryotes; involves autophosphorylation of a histidine kinase and the transfer of the phosphate group to an aspartate that then acts as a phospho-donor to response regulator proteins [goid 160] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [pmid 7736582] [evidence TAS]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 7736582] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; The flow of blood through the body of an animal, enabling the transport of O2 and nutrients to the tissues and the removal of waste products [goid 8015] [pmid 7736582] [evidence NAS]; Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process by which the heart decreases in volume in a characteristic way to propel blood through the body [goid 8016] [pmid 7736582] [evidence TAS]" Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of a potassium ion by a voltage-gated channel [goid 5249] [evidence IEA]; Catalysis of the phosphorylation of a specific transcription regulator in response to the presence of a particular signal substance outside the cell [goid 155] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; [goid 5251] [pmid 7736582] [evidence TAS]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA] ERG1; SQT1; Kv11.1; LQT2; HERG; HERG1 ERG1; LQT2; SQT1; HERG; Kv11.1; HERG1 Hydrolase;Defense/immunity protein Carbohydrate metabolism;Immunity and defense -> Stress response Homo sapiens RefSeq ILMN_4879 ILMN_4879 LYZ NM_000239.1 NM_000239.1 4069 4557893 NM_000239.1 LYZ NP_000230.1 ILMN_2162972 4810162 S 1021 CGTGAGCCACTGCGCCCGGCCACATTCAGTTCTTATCAAAGAAATAACCC 12 + 68033815-68033864 12q15c "Homo sapiens lysozyme (renal amyloidosis) (LYZ), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 2829884] [evidence TAS]" "The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 366724] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a cell wall [goid 16998] [evidence IEA]; The rupture of cell membranes and the loss of cytoplasm [goid 19835] [evidence IEA]; Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism [goid 42742] [evidence IEA]" "Catalysis of the hydrolysis of the 1,4-beta-linkages between N-acetyl-D-glucosamine and N-acetylmuramic acid in peptidoglycan heteropolymers of the prokaryotes cell walls and between N-acetyl-D-glucosamine residues in chitodextrins [goid 3796] [pmid 2829884] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the hydrolysis of any glycosyl bond [goid 16798] [evidence IEA]" Oxidoreductase -> Oxidase Other metabolism -> Other carbon metabolism Homo sapiens RefSeq ILMN_11566 ILMN_183788 MAOA NM_000240.2 NM_000240.2 4128 33469954 NM_000240.2 MAOA NP_000231.1 ILMN_1663640 6550528 S 3931 GGTGCCTAATGTTCCATGTCTGAAGTTTGCCCCAGTGCTACACGTTGGAG X + 43490870-43490919 Xp11.3c "Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope [goid 5741] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine [goid 6584] [evidence IEA]; The specific actions or reactions of an organism in response to external or internal stimuli. Patterned activity of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions [goid 7610] [pmid 8211186] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline [goid 42420] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17220478] [evidence IPI]; Catalysis of the reaction: R-CH2-NH2 + H2O + O2 = R-CHO + NH3 + H2O2 [goid 8131] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]" Defense/immunity protein -> Other defense and immunity protein Immunity and defense -> Complement-mediated immunity Homo sapiens RefSeq ILMN_6942 ILMN_175550 MBL2 NM_000242.1 NM_000242.1 4153 4557738 NM_000242.1 MBL2 NP_000233.1 ILMN_1762464 4480538 S 3230 TGAAGTGCTCCAGTCAGGCCTATCTAAACTGGATTCACAGCTCTGTCACT 10 - 54195435-54195484 10q21.1a "Homo sapiens mannose-binding lectin (protein C) 2, soluble (opsonic defect) (MBL2), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 10925294] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 10639434] [evidence EXP]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 1304173] [evidence TAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]" "Any process involved in the activation of any of the steps of the lectin pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes [goid 1867] [pmid 11532276] [evidence EXP]; Any process involved in the activation of any of the steps of the lectin pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes [goid 1867] [pmid 11549596] [evidence IPI]; Process involving non-antibody proteins whose concentrations in the plasma increase in response to infection or injury of homeothermic animals [goid 6953] [pmid 2477488] [evidence TAS]; Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes [goid 6958] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [pmid 11549596] [evidence NAS]; The process by which a microorganism (or other particulate material) is rendered more susceptible to phagocytosis by coating with an opsonin, a blood serum protein such as a complement component or antibody [goid 8228] [pmid 2477488] [evidence TAS]" "Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [pmid 11549596] [evidence IPI]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any mono-, di- or trisaccharide carbohydrate [goid 5529] [evidence IEA]; Interacting selectively with mannose, a monosaccharide hexose, stereoisomeric with glucose, that occurs naturally only in polymerized forms called mannans [goid 5537] [pmid 11549596] [evidence NAS]; Interacting selectively with any component on the surface of a eukaryotic cell [goid 43499] [pmid 2477488] [evidence TAS]; Interacting selectively with any component on the surface of a bacterial cell [goid 51635] [pmid 2477488] [evidence TAS]" MBP; MGC116832; HSMBPC; MBL; MGC116833; COLEC1; MBP1 MBL; MGC116833; MBP; MGC116832; COLEC1; MBP1; HSMBPC Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein Cell structure and motility Homo sapiens RefSeq ILMN_164970 ILMN_164970 MEFV NM_000243.1 NM_000243.1 4210 4557742 NM_000243.1 MEFV NP_000234.1 ILMN_2115752 3390687 S 3433 GAGCCACCATGCCTGGCCATGATTCTTAAGAGAATTGACTGGGCCTCATG 16 - 3232045-3232094 16p13.3c "Homo sapiens Mediterranean fever (MEFV), mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 11115844] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; Any multimeric complex connected to a microtubule [goid 5875] [pmid 11468188] [evidence IDA]" "The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 11468188] [evidence IDA]" "Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [pmid 11468188] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 11115844] [evidence NAS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" MEF; MGC126560; TRIM20; MGC126586; FMF MEF; TRIM20; MGC126586; FMF; MGC126560 Receptor -> Protein kinase receptor -> Tyrosine protein kinase receptor;Kinase -> Protein kinase -> Tyrosine protein kinase receptor Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Signal transduction -> Cell communication -> Ligand-mediated signaling;Immunity and defense;Developmental processes -> Fertilization;Cell cycle -> Cell cycle control;Cell proliferation and differentiation;Oncogenesis -> Oncogene;Cell structure and motility -> Cell motility Homo sapiens RefSeq ILMN_12011 ILMN_12011 MET NM_000245.2 NM_000245.2 4233 42741654 NM_000245.2 MET NP_000236.2 ILMN_1715175 4200504 S 6321 GTCTCTACCAGGGTCAAGAGCATGAACGCATCAATAGAAAGAACTCGGGG 7 + 115833589-115833638 7q31.2b "Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 1846706] [evidence TAS]; The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis [goid 9925] [pmid 15314156] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The initiation of the activity of the inactive enzyme MAP kinase by phosphorylation by a MAPKK [goid 187] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [pmid 2819873] [evidence NAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [evidence IEA]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [evidence IEA]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 10871856] [evidence TAS]; Behavior in a fully developed and mature organism [goid 30534] [evidence IEA]; The phosphorylation by a protein of one or more of its own amino acid residues, or residues on an identical protein [goid 46777] [evidence IEA]; The series of molecular signals generated as a consequence of the hepatocyte growth factor receptor binding to one of its physiological ligands [goid 48012] [evidence IEA]; The multiplication or reproduction of myoblasts, resulting in the expansion of a myoblast cell population. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers [goid 51450] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate [goid 4713] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with hepatocye growth factor to initiate a change in cell activity [goid 5008] [evidence IEA]; Combining with hepatocye growth factor to initiate a change in cell activity [goid 5008] [pmid 10871856] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11571281] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" RCCP2; HGFR; AUTS9 AUTS9; RCCP2; HGFR Transcription factor -> Transcription cofactor;Nucleic acid binding Nucleoside, nucleotide and nucleic acid metabolism;Immunity and defense -> T-cell mediated immunity -> MHCII-mediated immunity Homo sapiens RefSeq ILMN_22738 ILMN_22738 CIITA NM_000246.2 NM_000246.2 4261 73747680 NM_000246.2 CIITA NP_000237.1 ILMN_1773363 4210167 S 4544 GGGTTTGAGTTCATACCCTGTTACCATTTTGGGGTACCCACTGCTCTGGT 16 + 10926233-10926282 16p13.13c "Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]" "Any process that modulates the frequency, rate or extent of the synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 45449] [evidence IEA]; Any process that modulates the frequency, rate or extent of the synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 45449] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack [goid 6952] [evidence IEA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 8402893] [evidence TAS]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Plays a role in regulating transcription; may bind a promoter or enhancer DNA sequence or interact with a DNA-binding transcription factor [goid 30528] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Plays a role in regulating transcription; may bind a promoter or enhancer DNA sequence or interact with a DNA-binding transcription factor [goid 30528] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 15771576] [evidence TAS]; Functions to initiate or regulate RNA polymerase II transcription [goid 3702] [pmid 8402893] [evidence TAS]; The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 7749984] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16600381] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively and non-covalently with ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation [goid 43130] [pmid 14528304] [evidence IPI]" CIITA IV; MHC2TA; NLRA; C2TA CIITA IV; MHC2TA; NLRA; C2TA Defense/immunity protein -> Major histocompatibility complex antigen Immunity and defense -> T-cell mediated immunity -> MHCI-mediated immunity Homo sapiens RefSeq ILMN_10987 ILMN_10987 MICA NM_000247.1 NM_000247.1 4276 4557750 NM_000247.1 MICA NP_000238.1 ILMN_1797929 7650487 S 613 CGGCGATATCTAAAATCCGGCGTAGTCCTGAGGAGAACAGTGCCCCCCAT 6 + 31511991-31512040 6p21.33a "Homo sapiens MHC class I polypeptide-related sequence A (MICA), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A transmembrane protein complex composed of a MHC class I alpha chain and an invariant beta2-microglobin chain, and with or without a bound peptide antigen. Class I here refers to classical class I molecules [goid 42612] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A transmembrane protein complex composed of a MHC class I alpha chain and an invariant beta2-microglobin chain, and with or without a bound peptide antigen. Class I here refers to classical class I molecules [goid 42612] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A transmembrane protein complex composed of a MHC class I alpha chain and an invariant beta2-microglobin chain, and with or without a bound peptide antigen. Class I here refers to classical class I molecules [goid 42612] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A transmembrane protein complex composed of a MHC class I alpha chain and an invariant beta2-microglobin chain, and with or without a bound peptide antigen. Class I here refers to classical class I molecules [goid 42612] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A transmembrane protein complex composed of a MHC class I alpha chain and an invariant beta2-microglobin chain, and with or without a bound peptide antigen. Class I here refers to classical class I molecules [goid 42612] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A transmembrane protein complex composed of a MHC class I alpha chain and an invariant beta2-microglobin chain, and with or without a bound peptide antigen. Class I here refers to classical class I molecules [goid 42612] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8901601] [evidence IDA]; A transmembrane protein complex composed of a MHC class I alpha chain and an invariant beta2-microglobin chain, and with or without a bound peptide antigen. Class I here refers to classical class I molecules [goid 42612] [evidence IEA]" "Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The process by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex [goid 19882] [evidence IEA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The process by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex [goid 19882] [evidence IEA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The process by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex [goid 19882] [evidence IEA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The process by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex [goid 19882] [evidence IEA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The process by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex [goid 19882] [evidence IEA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The process by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex [goid 19882] [evidence IEA]; Any series of molecular signals generated as a consequence of binding to a C-type lectin receptor capable of cellular activation [goid 2223] [pmid 10426994] [evidence IDA]; An immune system process that functions in the response of an organism to a tumor cell [goid 2418] [pmid 10359807] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism [goid 6974] [pmid 15995699] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism [goid 9408] [pmid 8901601] [evidence IDA]; The rupture of cell membranes and the loss of cytoplasm [goid 19835] [evidence IEA]; The process by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex [goid 19882] [evidence IEA]; Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism [goid 42742] [pmid 11830641] [evidence IDA]; Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism [goid 42742] [pmid 11485740] [evidence IDA]; The change in morphology and behavior of a gamma-delta T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific [goid 46629] [pmid 9497295] [evidence IDA]; Reactions triggered in response to the presence of a virus that act to protect the cell or organism [goid 51607] [pmid 16750166] [evidence IDA]; Reactions triggered in response to the presence of a virus that act to protect the cell or organism [goid 51607] [pmid 11224526] [evidence IDA]" Interacting selectively with beta-2-microglobulin [goid 30881] [pmid 8901601] [evidence IDA]; Interacting selectively with a lectin-like natural killer cell receptor [goid 46703] [pmid 11491531] [evidence IDA]; Interacting selectively with a lectin-like natural killer cell receptor [goid 46703] [pmid 10426993] [evidence IDA] PERB11.1; MGC111087 PERB11.1; MGC111087 Nucleic acid binding -> Other DNA-binding protein Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair;Developmental processes -> Meiosis;Oncogenesis Homo sapiens RefSeq ILMN_13596 ILMN_13596 MLH1 NM_000249.2 NM_000249.2 4292 28559089 NM_000249.2 MLH1 NP_000240.1 ILMN_1788363 4610164 S 2153 CAGGCCAGCAGAGTGAAGTGCCTGGCTCCATTCCAAACTCCTGGAAGTGG 3 + 37065502-37065512:37066981-37067019 3p22.2b "Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), mRNA." "A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure [goid 793] [evidence IEA]; A proteinaceous scaffold found between homologous chromosomes during meiosis [goid 795] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A heterodimer involved in the recognition of base-base and small insertion/deletion mismatches. In human the complex consists of two subunits, MLH1 and PMS2 [goid 32389] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure [goid 793] [evidence IEA]; A proteinaceous scaffold found between homologous chromosomes during meiosis [goid 795] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 11809883] [evidence IC ]; A heterodimer involved in the recognition of base-base and small insertion/deletion mismatches. In human the complex consists of two subunits, MLH1 and PMS2 [goid 32389] [evidence IEA]" "Progression through the third stage of prophase I in meiosis, in which crossing over occurs between a chromatid in one partner and another chromatid in the homologous chromosome [goid 239] [evidence IEA]; Shortening of the poly(A) tail of a nuclear-transcribed mRNA from full length to an oligo(A) length [goid 289] [evidence IEA]; The cleavage and rejoining of Holliday junctions formed during meiotic recombination to produce two intact molecules in which genetic material has been exchanged [goid 712] [evidence IEA]; A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [evidence IEA]; The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends [goid 6303] [evidence IEA]; The cell cycle process whereby genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a male [goid 7060] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [evidence IEA]; A cascade of processes initiated by the detection of DNA damage and resulting in the induction of apoptosis (programmed cell death) [goid 8630] [evidence IEA]; Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins [goid 16446] [evidence IEA]; The alignment of chromosomes at the metaphase plate, a plane halfway between the poles of the meiotic spindle, during meiosis I [goid 43060] [evidence IEA]; The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus [goid 45190] [evidence IEA]; Any process that inhibits or decreases the rate of DNA recombination during mitosis [goid 45950] [evidence IEA]; The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell [goid 48477] [evidence IEA]; The formation of the spindle midzone, the area in the center of the spindle where the spindle microtubules from opposite poles overlap, during the process of meiosis [goid 51257] [evidence IEA]; A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [evidence IEA]; A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [evidence IEA]; A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [evidence IEA]; A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [evidence IEA]; Progression through the third stage of prophase I in meiosis, in which crossing over occurs between a chromatid in one partner and another chromatid in the homologous chromosome [goid 239] [evidence IEA]; Shortening of the poly(A) tail of a nuclear-transcribed mRNA from full length to an oligo(A) length [goid 289] [evidence IEA]; The cleavage and rejoining of Holliday junctions formed during meiotic recombination to produce two intact molecules in which genetic material has been exchanged [goid 712] [evidence IEA]; A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [pmid 8128251] [evidence TAS]; The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends [goid 6303] [evidence IEA]; The cell cycle process whereby genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a male [goid 7060] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [evidence IEA]; A cascade of processes initiated by the detection of DNA damage and resulting in the induction of apoptosis (programmed cell death) [goid 8630] [evidence IEA]; Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins [goid 16446] [evidence IEA]; The alignment of chromosomes at the metaphase plate, a plane halfway between the poles of the meiotic spindle, during meiosis I [goid 43060] [evidence IEA]; The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus [goid 45190] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any process that inhibits or decreases the rate of DNA recombination during mitosis [goid 45950] [evidence IEA]; The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell [goid 48477] [evidence IEA]; The formation of the spindle midzone, the area in the center of the spindle where the spindle microtubules from opposite poles overlap, during the process of meiosis [goid 51257] [evidence IEA]" "Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with double-stranded DNA containing one or more mismatches [goid 30983] [evidence IEA]; Interacting selectively with double-stranded DNA containing a G/T mispair [goid 32137] [evidence IEA]; Interacting selectively with DNA of a specific structure or configuration e.g. triplex DNA binding or bent DNA binding [goid 43566] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with double-stranded DNA containing one or more mismatches [goid 30983] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with double-stranded DNA containing one or more mismatches [goid 30983] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with double-stranded DNA containing one or more mismatches [goid 30983] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with double-stranded DNA containing one or more mismatches [goid 30983] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with single-stranded DNA [goid 3697] [pmid 11809883] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11427529] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11429708] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 2414623] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 14676842] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17715146] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with double-stranded DNA containing one or more mismatches [goid 30983] [evidence IEA]; Interacting selectively with double-stranded DNA containing a G/T mispair [goid 32137] [evidence IEA]; Interacting selectively with the mismatch repair complex MutSalpha [goid 32407] [pmid 16403449] [evidence IDA]" HNPCC; COCA2; FCC2; hMLH1; MGC5172; HNPCC2 HNPCC; MGC5172; COCA2; HNPCC2; FCC2; hMLH1 Oxidoreductase -> Peroxidase Immunity and defense -> Granulocyte-mediated immunity Homo sapiens RefSeq ILMN_28129 ILMN_28129 MPO NM_000250.1 NM_000250.1 4353 4557758 NM_000250.1 MPO NP_000241.1 ILMN_1705183 3520601 S 2741 CCTGGGTTCCAATCCTGGCTCTGTGGCTTGCTAGCTATGTGACCTTGAGC 17 - 53702640-53702689 17q22d "Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 2829220] [evidence TAS]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 8621627] [evidence TAS]" "A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; A process which directly inhibits any of the steps required for cell death by apoptosis [goid 6916] [pmid 10801811] [evidence TAS]; Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack [goid 6952] [pmid 8621627] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [pmid 2903767] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of hydrogen peroxide (H2O2) [goid 42744] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: donor + H2O2 = oxidized donor + 2 H2O [goid 4601] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Catalysis of the reaction: donor + H2O2 = oxidized donor + 2 H2O [goid 4601] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with chromatin, the network of fibers of DNA and protein that make up the chromosomes of the eukaryotic nucleus during interphase [goid 3682] [pmid 2829220] [evidence TAS]; Catalysis of the reaction: donor + H2O2 = oxidized donor + 2 H2O [goid 4601] [pmid 10777476] [evidence TAS]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]" Nucleic acid binding -> Damaged DNA-binding protein Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair;Developmental processes -> Meiosis Homo sapiens RefSeq ILMN_9008 ILMN_9008 MSH2 NM_000251.1 NM_000251.1 4436 4557760 NM_000251.1 MSH2 NP_000242.1 ILMN_2203453 610377 S 2663 CATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGCAAGGTGAAA 2 + 47561475-47561514:47563422-47563431 2p21a "Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A heterodimer involved in the recognition and repair of base-base and small insertion/deletion mismatches. In human the complex consists of two subunits, MSH2 and MSH6 [goid 32301] [pmid 8942985] [evidence IDA]; A heterodimer involved in binding to and correcting insertion/deletion mutations. In human the complex consists of two subunits, MSH2 and MSH3 [goid 32302] [pmid 8942985] [evidence IDA]" "A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [evidence IEA]; A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [evidence IEA]; A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [evidence IEA]; In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase [goid 6284] [pmid 8942985] [evidence IDA]; A system for the correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination [goid 6298] [pmid 7923193] [evidence IDA]; Pathways for DNA repair which occur after DNA has replicated, e.g. mismatch repair, and which involve translesion synthesis (TLS-type) DNA polymerases [goid 6301] [pmid 7923193] [evidence IDA]; The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure [goid 8584] [evidence ISS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz) [goid 10165] [evidence ISS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a UV-B radiation stimulus. UV-B radiation (UV-B light) spans the wavelengths 290 to 320 nm [goid 10224] [evidence ISS]; The process by which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus [goid 16447] [evidence ISS]; Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells [goid 19724] [evidence ISS]; The process whereby a precursor cell type acquires the specialized features of a B cell [goid 30183] [evidence ISS]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis in neurons [goid 43524] [evidence ISS]; Any process involved in sustaining the fidelity and copy number of DNA repeat elements [goid 43570] [pmid 16388310] [evidence IMP]; The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus [goid 45190] [evidence ISS]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of DNA recombination [goid 45910] [evidence ISS]" "Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with double-stranded DNA containing one or more mismatches [goid 30983] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with double-stranded DNA containing one or more mismatches [goid 30983] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with double-stranded DNA containing one or more mismatches [goid 30983] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [pmid 16403449] [evidence IDA]; Interacting selectively with DNA containing four-way junctions, also known as Holliday junctions, a structure where two DNA double strands are held together by reciprocal exchange of two of the four strands, one strand each from the two original helices [goid 400] [pmid 12034830] [evidence IDA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 7923193] [evidence IDA]; Interacting selectively with single-stranded DNA [goid 3697] [pmid 11809883] [evidence IDA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 15105434] [evidence IDA]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 14706347] [evidence IPI]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [pmid 16403449] [evidence IDA]; Interacting selectively with double-stranded DNA containing a G/T mispair [goid 32137] [pmid 8942985] [evidence IDA]; Interacting selectively with double-stranded DNA containing a G/T mispair [goid 32137] [pmid 11809883] [evidence IDA]; Interacting selectively with double-stranded DNA containing a single guanine insertion or a deletion that results in an unpaired guanine [goid 32142] [pmid 8942985] [evidence IDA]; Interacting selectively with double-stranded DNA containing a single thymine insertion or a deletion that results in an unpaired thymine [goid 32143] [pmid 8942985] [evidence IDA]; Interacting selectively with double-stranded DNA containing a dinucleotide repeat insertion or a deletion resulting in unpaired dinucleotide repeats [goid 32181] [pmid 8942985] [evidence IDA]; Interacting selectively with oxidized purine residues in DNA [goid 32357] [pmid 11801590] [evidence IDA]; Interacting selectively with oxidized purine residues in DNA [goid 32357] [pmid 11756455] [evidence IDA]; Interacting selectively with the mismatch repair complex MutLalpha [goid 32405] [pmid 16403449] [evidence IDA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 8942985] [evidence IDA]; Interacting selectively with ADP, adenosine 5'-diphosphate [goid 43531] [pmid 15105434] [evidence IDA]" HNPCC; FCC1; COCA1; HNPCC1 HNPCC; FCC1; COCA1; HNPCC1 Phosphatase -> Other phosphatase Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism;Intracellular protein traffic -> General vesicle transport;Developmental processes -> Other developmental process Homo sapiens RefSeq ILMN_3249 ILMN_180496 MTM1 NM_000252.1 NM_000252.1 4534 4557895 NM_000252.1 MTM1 NP_000243.1 ILMN_1686985 2320537 S 2700 GTCAGTCCAGCTCATCTGCCAAAATGTAGGGCTACCGTCTTGGATGCATG X + 149591560-149591609 Xq28c "Homo sapiens myotubularin 1 (MTM1), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 18029348] [evidence IDA]; A structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as in plants) [goid 31012] [pmid 18029348] [evidence IDA]; The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 18029348] [evidence IDA]; A structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as in plants) [goid 31012] [pmid 18029348] [evidence IDA]" The process of removing one or more phosphoric (ester or anhydride) residues from a molecule [goid 16311] [evidence IEA]; The process of removing one or more phosphoric residues from a protein [goid 6470] [pmid 9828128] [evidence NAS]; The cellular homeostatic process by which a muscle fiber is preserved in a stable functional or structural state [goid 46716] [evidence IEA] "Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate [goid 16791] [evidence IEA]; Catalysis of the reaction: protein serine/threonine phosphate + H2O = protein serine/threonine + phosphate [goid 4722] [pmid 9828128] [evidence NAS]; Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [pmid 9828128] [evidence NAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" CNM; XLMTM; MTMX CNM; XLMTM; MTMX Transporter;Transfer/carrier protein -> Apolipoprotein Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport Homo sapiens RefSeq ILMN_14208 ILMN_14208 MTTP NM_000253.2 NM_000253.2 4547 153285407 NM_000253.2 MTTP NP_000244.2 ILMN_1774742 3520746 S 3319 GCTCTTGATAGGACTTCCTTAAGCATGACGGGAAAACCAAACACGTTCCC 4 + 100763406-100763455 4q23b "Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA." "The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]" "The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The covalent or non-covalent attachment of lipid moieties to an amino acid in a protein [goid 6497] [evidence IEA]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 1439810] [evidence TAS]; The chemical reactions and pathways involving triacylglycerol, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triacylglycerols are important components of plant oils, animal fats and animal plasma lipoproteins [goid 6641] [evidence IEA]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]" "Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]; Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]; Interacting selectively with a lipid [goid 8289] [evidence IEA]" MGC149819; MTP; MGC149820; ABL MGC149819; MTP; MGC149820; ABL Transferase -> Methyltransferase Amino acid metabolism Homo sapiens RefSeq ILMN_23657 ILMN_23657 MTR NM_000254.1 NM_000254.1 4548 4557764 NM_000254.1 MTR NP_000245.1 ILMN_1670801 4670711 S 6890 TACCCACAGAAGGAGGAAGTGGAAGGGACAGGAGCACATAGGTAGATGCC 1 + 235130373-235130422 1q43a "Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8968737] [evidence EXP]" "The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 8968737] [evidence TAS]; The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents [goid 8652] [evidence IEA]; The chemical reactions and pathways resulting in the formation of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins [goid 9086] [evidence IEA]; The chemical reactions and pathways resulting in the formation of folic acid and its derivatives [goid 9396] [evidence IEA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]" "Catalysis of the reaction: 2-amino-4-hydroxy-6-hydroxymethyl-7,8-dihydropteridine diphosphate + 4-aminobenzoate = diphosphate + dihydropteroate [goid 4156] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the reaction: 5-methyltetrahydrofolate + L-homocysteine = tetrahydrofolate + L-methionine [goid 8705] [evidence IEA]; Catalysis of the reaction: 5-methyltetrahydrofolate + L-homocysteine = tetrahydrofolate + L-methionine [goid 8705] [pmid 8968737] [evidence EXP]; Catalysis of the reaction: S-adenosyl-L-methionine + L-homocysteine = S-adenosyl-L-homocysteine + L-methionine [goid 8898] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom [goid 31419] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with a cobalt (Co) ion [goid 50897] [evidence IEA]" FLJ45386 FLJ45386 Isomerase -> Mutase Carbohydrate metabolism -> Tricarboxylic acid pathway Homo sapiens RefSeq ILMN_2157 ILMN_2157 MUT NM_000255.1 NM_000255.1 4594 4557766 NM_000255.1 MUT NP_000246.1 ILMN_2078074 7320020 S 2683 ACTCTGACTATTCCCATTTCTCAGTTTAGCATTACATTGTCTTGAGCACC 6 - 49506996-49507045 6p12.3b "Homo sapiens methylmalonyl Coenzyme A mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 2567699] [evidence TAS]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development [goid 9791] [evidence IEA]" "Catalysis of the reaction: (R)-2-methyl-3-oxopropanoyl-CoA = succinyl-CoA [goid 4494] [pmid 2567699] [evidence TAS]; Interacting selectively with cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom [goid 31419] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with a cobalt (Co) ion [goid 50897] [evidence IEA]" MCM MCM Molecular function unclassified Muscle contraction Homo sapiens RefSeq ILMN_15648 ILMN_15648 MYBPC3 NM_000256.2 NM_000256.2 4607 13325073 NM_000256.2 MYBPC3 NP_000247.1 ILMN_1781184 6940768 S 4015 CAGTCCTGAGTGGGTGTTGCACAGACTGGTCCACAGGGCTCCTGAAGGAA 11 - 47309662-47309711 11p11.2b "Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA." "Bipolar filaments formed of polymers of a muscle-specific myosin II isoform, found in the middle of sarcomeres in myofibrils [goid 5863] [evidence IEA]; A region of the A band in which myosin-binding protein C is located and that can be seen by electron microscopy. This is a functional zone that also includes myosin [goid 14705] [pmid 15166115] [evidence NAS]" "The developmental process by which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 3007] [pmid 7493025] [evidence IMP]; Any process that modulates the frequency, rate or extent of striated muscle contraction [goid 6942] [evidence ISS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; Any process that activates or increases the rate of ATP hydrolysis by an ATPase [goid 32781] [evidence ISS]; Any process that modulates the frequency, rate or extent of muscle filament sliding [goid 32971] [evidence ISS]; The process by which the anatomical structures of cardiac ventricle muscle is generated and organized. Morphogenesis pertains to the creation of form [goid 55010] [pmid 11815426] [evidence IMP]; Muscle contraction of cardiac muscle tissue [goid 60048] [evidence ISS]" "Functions to increase the rate of ATP hydrolysis [goid 1671] [evidence ISS]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15601779] [evidence IDA]; The action of a molecule that contributes to the structural integrity of a muscle fiber [goid 8307] [pmid 7493025] [evidence IMP]; Interacting selectively with titin, any of a family of giant proteins found in striated and smooth muscle. In striated muscle, single titin molecules span half the sarcomere, with their N- and C-termini in the Z-disc and M-line, respectively [goid 31432] [pmid 7493025] [evidence NAS]; Interacting selectively with a heavy chain of a myosin complex [goid 32036] [pmid 17192269] [evidence IPI]" FHC; CMH4; MYBP-C FHC; CMH4; MYBP-C Cytoskeletal protein -> Actin family cytoskeletal protein -> Actin binding motor protein Muscle contraction;Developmental processes -> Mesoderm development -> Muscle development;Cell cycle -> Mitosis -> Cytokinesis Homo sapiens RefSeq ILMN_4628 ILMN_180846 MYH7 NM_000257.2 NM_000257.2 4625 115496168 NM_000257.2 MYH7 NP_000248.2 ILMN_1669714 1440181 S 5919 GCCACATCTTGATCTGCTCAGCCCTGGAGGTGCCAGCAAAGCCCCATGCT 14 - 22951848-22951897 14q11.2f-q11.2g "Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Bipolar filaments formed of polymers of a muscle-specific myosin II isoform, found in the middle of sarcomeres in myofibrils [goid 5863] [evidence IEA]; Small region on the surface of a cell that anchors the cell to the extracellular matrix and that are points of termination of actin filaments [goid 5925] [pmid 18029348] [evidence IDA]; A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes [goid 16459] [pmid 12933792] [evidence TAS]" "Any process that modulates the frequency or rate of heart contraction [goid 2027] [pmid 15621050] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 6200] [pmid 15621050] [evidence IDA]; A process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope [goid 6941] [evidence IEA]; The process whose specific outcome is the progression of the adult heart over time, from its formation to the mature structure [goid 7512] [pmid 15856146] [evidence IMP]; The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated [goid 30049] [pmid 8514894] [evidence IMP]; The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated [goid 30049] [pmid 16088376] [evidence IMP]; The process by which the anatomical structures of cardiac ventricle muscle is generated and organized. Morphogenesis pertains to the creation of form [goid 55010] [pmid 15856146] [evidence IMP]" "Catalysis of movement along a microfilament, coupled to the hydrolysis of a nucleoside triphosphate (usually ATP) [goid 146] [pmid 3021460] [evidence NAS]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 16088376] [evidence IC ]; The action of a molecule that contributes to the structural integrity of a muscle fiber [goid 8307] [pmid 16088376] [evidence IDA]; The action of a molecule that contributes to the structural integrity of a muscle fiber [goid 8307] [pmid 15621050] [evidence IDA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [pmid 15621050] [evidence IDA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate, requiring the presence of an actin filament to accelerate release of ADP and phosphate [goid 30898] [pmid 16088376] [evidence IMP]" MYHCB; SPMM; DKFZp451F047; CMH1; MGC138378; CMD1S; MPD1; SPMD; MGC138376 MYHCB; MGC138378; CMD1S; SPMM; MPD1; DKFZp451F047; SPMD; MGC138376; CMH1 Cytoskeletal protein -> Actin family cytoskeletal protein -> Actin binding motor protein Intracellular protein traffic -> General vesicle transport Homo sapiens RefSeq ILMN_12618 ILMN_12618 MYO5A NM_000259.2 NM_000259.2 4644 115511013 NM_000259.2 MYO5A NP_000250.2 ILMN_1698225 1570056 S 6184 GAGCTGTTGTTAGGAAGGCACCAAAGAACCTCCTCTGCACTAAACAGGAG 15 - 50392763-50392812 15q21.2c "Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), mRNA." "Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork [goid 1726] [pmid 9852149] [evidence IDA]; The outer segment of a vertebrate photoreceptor that contains discs of photoreceptive membranes [goid 1750] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9852149] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 18029348] [evidence IDA]; A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins [goid 5882] [evidence IEA]; Small region on the surface of a cell that anchors the cell to the extracellular matrix and that are points of termination of actin filaments [goid 5925] [pmid 18029348] [evidence IDA]; A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes [goid 16459] [evidence IEA]; A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules [goid 30141] [evidence IEA]; The migrating motile tip of a growing nerve cell axon or dendrite [goid 30426] [pmid 10391919] [evidence NAS]; A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells [goid 42470] [evidence IEA]; Any complex of actin, myosin, and accessory proteins [goid 42641] [evidence IEA]; A prolongation or process extending from a nerve cell, e.g. an axon or dendrite [goid 43005] [pmid 10391919] [evidence NAS]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 18029348] [evidence IDA]; Small region on the surface of a cell that anchors the cell to the extracellular matrix and that are points of termination of actin filaments [goid 5925] [pmid 18029348] [evidence IDA]; A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes [goid 16459] [evidence IEA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [pmid 11980908] [evidence NAS]; A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle by fusion of the vesicle with the plasma membrane of a cell. This is the process whereby most molecules are secreted from eukaryotic cells [goid 6887] [evidence IEA]; The process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse [goid 7268] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [evidence IEA]; Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins [goid 30048] [evidence IEA]; Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins [goid 30048] [pmid 10448864] [evidence NAS]; The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin [goid 30073] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a melanocyte [goid 30318] [evidence IEA]; Any process that modulates the frequency, rate or extent of the activity of the IP3 receptor [goid 31585] [evidence IEA]; Self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement [goid 31987] [evidence IEA]; Any process by which a secretory granule is transported to, and/or maintained in, a specific location within the cell [goid 32252] [evidence IEA]; Any process by which a melanosome is transported to, and/or maintained in, a specific location within the cell [goid 32400] [evidence IEA]; The directed movement of melanosomes into, out of, within or between cells [goid 32402] [evidence IEA]; The chemical reactions and pathways resulting in the formation of melanins, pigments largely of animal origin. High molecular weight polymers of indole quinone, they are irregular polymeric structures and are divided into three groups: allomelanins in the plant kingdom and eumelanins and phaeomelanins in the animal kingdom [goid 42438] [evidence IEA]; The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food [goid 42476] [evidence IEA]; The process by which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier [goid 42552] [evidence IEA]; The growth phase of the hair cycle. Lasts, for example, about 3 to 6 years for human scalp hair [goid 42640] [evidence IEA]; The chemical reactions and pathways resulting in the formation of long-chain fatty acids, aliphatic compounds having a terminal carboxyl group and with a chain length of C12-18 [goid 42759] [evidence IEA]; The deposition of coloring matter in an organism, tissue or cell, occurring during development [goid 48066] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell) [goid 50808] [evidence IEA]; Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors [goid 50885] [evidence IEA]; Any process by which endoplasmic reticulum is transported to, and/or maintained in, a specific location within the cell [goid 51643] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]" "Catalysis of movement along a microfilament, coupled to the hydrolysis of a nucleoside triphosphate (usually ATP) [goid 146] [evidence IEA]; Catalysis of movement along a microfilament, coupled to the hydrolysis of a nucleoside triphosphate (usually ATP) [goid 146] [pmid 10448864] [evidence NAS]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with the plus end of a microtubule [goid 51010] [evidence IEA]; Interacting selectively with an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits [goid 51015] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of movement along a polymeric molecule such as a microfilament or microtubule, coupled to the hydrolysis of a nucleoside triphosphate [goid 3774] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits [goid 51015] [evidence IEA]" MYR12; myosin Va; MYH12; myosin V; GS1; MYO5; MYOXIN myosin V; GS1; MYR12; myosin Va; MYO5; MYOXIN; MYH12 Cytoskeletal protein -> Actin family cytoskeletal protein -> Actin binding motor protein Sensory perception -> Hearing Homo sapiens RefSeq ILMN_17593 ILMN_175045 MYO7A NM_000260.2 NM_000260.2 4647 115511015 NM_000260.2 MYO7A NP_000251.2 ILMN_1811719 6860736 S 6992 CCATCCACCCCTCTGGCACCTGGGTTGGTCTAATCCTAGTTTGCTGTGGC 11 + 76603587-76603636 11q13.5c "Homo sapiens myosin VIIA (MYO7A), mRNA." "The outer segment of a vertebrate photoreceptor that contains discs of photoreceptive membranes [goid 1750] [pmid 8842737] [evidence IDA]; The inner segment of a vertebrate photoreceptor containing mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs [goid 1917] [pmid 8842737] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm [goid 5765] [pmid 16001398] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 15300860] [evidence IDA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The region of the plasma membrane located at the apical end of the cell [goid 16324] [evidence IEA]; A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes [goid 16459] [evidence IEA]; An actin-based protrusion from the apical surface of auditory and vestibular hair cells. Bundles of stereocilia act as mechanosensory organelles [goid 32420] [evidence IEA]; A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells [goid 42470] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [pmid 8842737] [evidence IDA]" "The process by which a phagosome, a vesicle formed by phagocytosis, fuses with a lysosome [goid 1845] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases [goid 7040] [pmid 16001398] [evidence IDA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 7870171] [evidence IMP]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 7870171] [evidence IMP]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon [goid 30030] [evidence IEA]; Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins [goid 30048] [pmid 12466270] [evidence NAS]; The process by which the anatomical structures of the inner ear are generated and organized. Morphogenesis pertains to the creation of form. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively [goid 42472] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of an auditory hair cell [goid 42491] [evidence IEA]; Morphogenesis, during the post-embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Morphogenesis pertains to process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 48563] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]; The series of events required for an organism to receive an orientational stimulus, convert it to a molecular signal, and recognize and characterize the signal. Equilibrioception refers to a combination of processes by which an organism can perceive its orientation with respect to gravity. In animals, stimuli come from labyrinth system of the inner ears, monitoring the direction of motion; visual stimuli, with information on orientation and motion; pressure receptors, which tell the organism which body surfaces are in contact with the ground; and proprioceptive cues, which report which parts of the body are in motion [goid 50957] [pmid 7870171] [evidence IMP]; Any process by which a pigment granule is transported to, and/or maintained in, a specific location within the cell [goid 51875] [evidence IEA]; The directed movement of pigment granules into, out of, within or between cells [goid 51904] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a stereocilium. A stereocilium is an actin-based protrusion from the apical surface of auditory hair cells [goid 60088] [evidence IEA]" "Catalysis of movement along a microfilament, coupled to the hydrolysis of a nucleoside triphosphate (usually ATP) [goid 146] [pmid 12466270] [evidence NAS]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [pmid 15300860] [evidence IMP]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits [goid 46983] [pmid 8622919] [evidence RCA]" USH1B; DFNA11; NSRD2; MYU7A; DFNB2 USH1B; DFNA11; NSRD2; MYU7A; DFNB2 Receptor Signal transduction -> Cell surface receptor mediated signal transduction;Sensory perception -> Vision;Cell structure and motility Homo sapiens RefSeq ILMN_13249 ILMN_13249 MYOC NM_000261.1 NM_000261.1 4653 4557778 NM_000261.1 MYOC NP_000252.1 ILMN_2052331 5390576 S 1624 GGGCCCAGGCAGCTTTGACTGCTTTCCAAGTTTTCATTAATCCAGAAGGA 1 - 169871551-169871600 1q24.3b "Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 17317787] [evidence IDA]; The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae [goid 5791] [evidence IEA]; A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole [goid 5929] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" The process by which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form [goid 9653] [pmid 9169133] [evidence TAS] The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 9169133] [evidence TAS] JOAG1; JOAG; GPOA; myocilin; GLC1A; TIGR JOAG1; JOAG; GPOA; myocilin; GLC1A; TIGR Hydrolase -> Galactosidase Carbohydrate metabolism -> Other polysaccharide metabolism;Protein metabolism and modification -> Protein modification;Coenzyme and prosthetic group metabolism -> Porphyrin metabolism;Signal transduction Homo sapiens RefSeq ILMN_21273 ILMN_21273 NAGA NM_000262.1 NM_000262.1 4668 4557780 NM_000262.1 NAGA NP_000253.1 ILMN_1784651 2070523 S 3069 TCTTGAGGCTGTTGAGAAACTTAGGACAGAAGCCTACCTCATCCCAGGCC 22 - 40784818-40784867 22q13.2b "Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA." "A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the hydrolysis of any O-glycosyl bond [goid 4553] [evidence IEA]; Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides [goid 8456] [pmid 2174888] [evidence TAS]; Interacting selectively with cations, charged atoms or groups of atoms with a net positive charge [goid 43169] [evidence IEA]" D22S674; GALB D22S674; GALB Oxidoreductase;Hydrolase -> Glycosidase Carbohydrate metabolism;Protein metabolism and modification -> Protein modification -> Protein glycosylation Homo sapiens RefSeq ILMN_19157 ILMN_162236 NAGLU NM_000263.3 NM_000263.3 4669 66346697 NM_000263.3 NAGLU NP_000254.2 ILMN_1694980 540519 S 2578 TCGCCACCACTGGGCCTTGTTTTCCGCTAATTCCAGGGCAGATTCCAGGG 17 + 37949788-37949837 17q21.31a "Homo sapiens N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB) (NAGLU), mRNA." "A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 8650226] [evidence TAS]" "The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 8650226] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties [goid 30203] [evidence IEA]" Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides [goid 4561] [pmid 8650226] [evidence TAS]; Catalysis of the hydrolysis of any glycosyl bond [goid 16798] [evidence IEA] MPS IIIB; NAG; MPS3B; UFHSD MPS IIIB; NAG; MPS3B; UFHSD Molecular function unclassified Electron transport;Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade;Signal transduction -> Cell communication Homo sapiens RefSeq ILMN_136961 ILMN_33352 NCF1 NM_000265.4 NM_000265.4 653361 115298671 NM_000265.4 NCF1 NP_000256.3 ILMN_1697309 3940438 S 119 CGCTTCGTACCCAGCCAGCACTATGTGTACATGTTCCTGGTGAAATGGCA 7 + 73826363-73826386:73829549-73829574 7q11.23c "Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [pmid 2848318] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 2848318] [evidence TAS]; A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2 [goid 43020] [pmid 7938008] [evidence TAS]" "A defense response that is mediated by cells [goid 6968] [pmid 2848318] [evidence TAS]; Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment [goid 7154] [evidence IEA]; The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways [goid 42554] [pmid 7938008] [evidence TAS]; Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens [goid 45087] [pmid 7938008] [evidence TAS]; A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals [goid 45730] [pmid 7938008] [evidence TAS]" "Catalysis of the reaction: GTP + H2O = GDP + phosphate [goid 3924] [pmid 2547247] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11094157] [evidence IPI]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [pmid 2848318] [evidence TAS]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [pmid 2848318] [evidence TAS]; Interacting selectively with a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins [goid 17124] [pmid 7938008] [evidence IPI]; Interacting selectively with any inositol-containing glycerophospholipid [goid 35091] [evidence IEA]" NOXO2; SH3PXD1A; NCF1A; p47phox NOXO2; SH3PXD1A; p47phox; NCF1A Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_22946 ILMN_22946 NDP NM_000266.1 NM_000266.1 4693 4557788 NM_000266.1 NDP NP_000257.1 ILMN_1794803 2320598 S 1725 TGGTGGCCTGGCTTGTCTTCTGAACGTTTGGTTCAAATGTGTTTTGGTCC X - 43693024-43693073 Xp11.3c "Homo sapiens Norrie disease (pseudoglioma) (NDP), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 8298646] [evidence TAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]" "The process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin [goid 1890] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a vacuole [goid 7033] [pmid 10484772] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8298646] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 8298646] [evidence TAS]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 8252044] [evidence TAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 10484772] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 8298646] [evidence NAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 8298646] [evidence TAS]; The series of molecular signals initiated by binding of Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state [goid 16055] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [pmid 8298646] [evidence TAS] ND; EVR2; FEVR EVR2; ND; FEVR Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_138603 ILMN_3554 NF2 NM_000268.2 NM_000268.2 4771 32967273 NM_000268.2 NF2 NP_000259.1 ILMN_1676721 7200259 S 3763 TTTTCTCCATGGCTGATGCTGCTGTGGCCAGCCAGGGCCCTTGAGATCCT 22 + 28422343-28422392 22q12.2a "Homo sapiens neurofibromin 2 (bilateral acoustic neuroma) (NF2), transcript variant 1, mRNA." "Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork [goid 1726] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10401006] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 9537418] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9537418] [evidence IDA]; Small irregularly shaped intracellular vesicles to which endocytosed molecules are initially delivered [goid 5769] [pmid 10861283] [evidence IDA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 8379998] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10401006] [evidence IDA]; A cell junction at which the cytoplasmic face of the plasma membrane is attached to actin filaments [goid 5912] [evidence IEA]; Loosely bound to one surface of a membrane, but not integrated into the hydrophobic region [goid 19898] [evidence IEA]; A thin sheetlike process extended by the leading edge of a crawling fibroblast; contains a dense meshwork of actin filaments [goid 30027] [evidence IEA]; Thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone; usually approximately 0.1 um wide, 5-10 um long, can be up to 50 um long in axon growth cones; contains a loose bundle of about 20 actin filaments oriented with their plus ends pointing outward [goid 30175] [evidence IEA]; In animal cells, the first sign of cleavage, or cytokinesis, is the appearance of a shallow groove in the cell surface near the old metaphase plate. A contractile ring containing actin and myosin, is located just inside the plasma membrane at the location of the furrow. Ring contraction is associated with centripetal growth of the membrane that deepens the cleavage furrow and divides the cytoplasm of the two daughter cells. While the term 'cleavage furrow' was initially associated with animal cells, such a structure occurs in many other types of cells, including unicellular protists [goid 32154] [evidence IEA]; A prolongation or process extending from a cell, e.g. a flagellum or axon [goid 42995] [evidence IEA]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [pmid 17210637] [evidence IDA]" "The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts [goid 1707] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell adhesion to the extracellular matrix [goid 1953] [pmid 17210637] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of protein kinase activity [goid 6469] [evidence IEA]; The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation [goid 7398] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of DNA replication [goid 8156] [pmid 17210637] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 17210637] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 12444102] [evidence IDA]; The multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system [goid 14010] [pmid 17353411] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell [goid 22408] [pmid 17210637] [evidence IDA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins [goid 30036] [pmid 9537418] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of cell migration [goid 30336] [pmid 17210637] [evidence TAS]; The process whose specific outcome is the progression of a dentine-containing tooth over time, from its formation to the mature structure. A dentine-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and are composed mainly of dentine, a dense calcified substance, covered by a layer of enamel [goid 42475] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a Stat3 protein [goid 42518] [pmid 12444102] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a Stat5 protein [goid 42524] [pmid 12444102] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of signal transduction mediated by the MAPKKK cascade [goid 43409] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a cell-cell junction. A cell-cell junction is a specialized region of connection between two cells [goid 45216] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the JAK-STAT signaling pathway activity [goid 46426] [pmid 12444102] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts [goid 51496] [pmid 9537418] [evidence IMP]" "The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with any protein component of any cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton) [goid 8092] [evidence IEA]" ACN; SCH; Merlin; BANF SCH; ACN; Merlin; BANF Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_12601 ILMN_3554 NF2 NM_000268.2 NM_000268.2 4771 32967273 NM_000268.2 NF2 NP_000259.1 ILMN_1671267 1090605 A 812 AGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTC 22 + 28368216-28368265 22q12.2a "Homo sapiens neurofibromin 2 (bilateral acoustic neuroma) (NF2), transcript variant 1, mRNA." "Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork [goid 1726] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10401006] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 9537418] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9537418] [evidence IDA]; Small irregularly shaped intracellular vesicles to which endocytosed molecules are initially delivered [goid 5769] [pmid 10861283] [evidence IDA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 8379998] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10401006] [evidence IDA]; A cell junction at which the cytoplasmic face of the plasma membrane is attached to actin filaments [goid 5912] [evidence IEA]; Loosely bound to one surface of a membrane, but not integrated into the hydrophobic region [goid 19898] [evidence IEA]; A thin sheetlike process extended by the leading edge of a crawling fibroblast; contains a dense meshwork of actin filaments [goid 30027] [evidence IEA]; Thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone; usually approximately 0.1 um wide, 5-10 um long, can be up to 50 um long in axon growth cones; contains a loose bundle of about 20 actin filaments oriented with their plus ends pointing outward [goid 30175] [evidence IEA]; In animal cells, the first sign of cleavage, or cytokinesis, is the appearance of a shallow groove in the cell surface near the old metaphase plate. A contractile ring containing actin and myosin, is located just inside the plasma membrane at the location of the furrow. Ring contraction is associated with centripetal growth of the membrane that deepens the cleavage furrow and divides the cytoplasm of the two daughter cells. While the term 'cleavage furrow' was initially associated with animal cells, such a structure occurs in many other types of cells, including unicellular protists [goid 32154] [evidence IEA]; A prolongation or process extending from a cell, e.g. a flagellum or axon [goid 42995] [evidence IEA]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [pmid 17210637] [evidence IDA]" "The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts [goid 1707] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell adhesion to the extracellular matrix [goid 1953] [pmid 17210637] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of protein kinase activity [goid 6469] [evidence IEA]; The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation [goid 7398] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of DNA replication [goid 8156] [pmid 17210637] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 17210637] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 12444102] [evidence IDA]; The multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system [goid 14010] [pmid 17353411] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell [goid 22408] [pmid 17210637] [evidence IDA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins [goid 30036] [pmid 9537418] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of cell migration [goid 30336] [pmid 17210637] [evidence TAS]; The process whose specific outcome is the progression of a dentine-containing tooth over time, from its formation to the mature structure. A dentine-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and are composed mainly of dentine, a dense calcified substance, covered by a layer of enamel [goid 42475] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a Stat3 protein [goid 42518] [pmid 12444102] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a Stat5 protein [goid 42524] [pmid 12444102] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of signal transduction mediated by the MAPKKK cascade [goid 43409] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a cell-cell junction. A cell-cell junction is a specialized region of connection between two cells [goid 45216] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the JAK-STAT signaling pathway activity [goid 46426] [pmid 12444102] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts [goid 51496] [pmid 9537418] [evidence IMP]" "The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with any protein component of any cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton) [goid 8092] [evidence IEA]" ACN; SCH; Merlin; BANF SCH; ACN; Merlin; BANF Kinase -> Nucleotide kinase Nucleoside, nucleotide and nucleic acid metabolism -> Pyrimidine metabolism Homo sapiens RefSeq ILMN_21846 ILMN_21846 NME1 NM_000269.2 NM_000269.2 4830 38045911 NM_000269.2 NME1 NP_000260.1 ILMN_2414399 7560673 A 739 AAAATGCTTCCTCCCAGCATAGGATTCATTGAGTTGGTTACTTCATATTG 17 + 46594377-46594426 17q21.33b "Homo sapiens non-metastatic cells 1, protein (NM23A) expressed in (NME1), transcript variant 2, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 16130169] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16130169] [evidence TAS]" "The chemical reactions and pathways resulting in the formation of GTP, guanosine triphosphate [goid 6183] [evidence IEA]; The chemical reactions and pathways resulting in the formation of UTP, uridine (5'-)triphosphate [goid 6228] [evidence IEA]; The chemical reactions and pathways resulting in the formation of CTP, cytidine 5'-triphosphate [goid 6241] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 1851158] [evidence TAS]; The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates) [goid 9117] [evidence IEA]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [pmid 16130169] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of DNA binding, selective interaction with deoxyribonucleic acid [goid 43388] [pmid 17975005] [evidence IDA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any process that activates or increases the rate or extent of epithelial cell proliferation [goid 50679] [pmid 16862176] [evidence IMP]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [pmid 11555662] [evidence IDA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 11555662] [evidence IC ]; Catalysis of the hydrolysis of ester linkages within deoxyribonucleic acid [goid 4536] [pmid 11555662] [evidence IDA]; Catalysis of the reaction: ATP + nucleoside diphosphate = ADP + nucleoside triphosphate [goid 4550] [pmid 12972261] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16814409] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17975005] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 12972261] [evidence IDA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [pmid 12972261] [evidence IDA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" NDPKA; NM23-H1; NDPK-A; NM23; AWD; GAAD NDPKA; NM23-H1; NDPK-A; NM23; AWD; GAAD Kinase -> Nucleotide kinase Nucleoside, nucleotide and nucleic acid metabolism -> Pyrimidine metabolism Homo sapiens RefSeq ILMN_22180 ILMN_21846 NME1 NM_000269.2 NM_000269.2 4830 38045911 NM_000269.2 NME1 NP_000260.1 ILMN_1741133 1820504 A 477 GGAGAGTGCAGAGAAGGAGATCGGCTTGTGGTTTCACCCTGAGGAACTGG 17 + 46594115-46594164 17q21.33b "Homo sapiens non-metastatic cells 1, protein (NM23A) expressed in (NME1), transcript variant 2, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 16130169] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16130169] [evidence TAS]" "The chemical reactions and pathways resulting in the formation of GTP, guanosine triphosphate [goid 6183] [evidence IEA]; The chemical reactions and pathways resulting in the formation of UTP, uridine (5'-)triphosphate [goid 6228] [evidence IEA]; The chemical reactions and pathways resulting in the formation of CTP, cytidine 5'-triphosphate [goid 6241] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 1851158] [evidence TAS]; The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates) [goid 9117] [evidence IEA]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [pmid 16130169] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of DNA binding, selective interaction with deoxyribonucleic acid [goid 43388] [pmid 17975005] [evidence IDA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any process that activates or increases the rate or extent of epithelial cell proliferation [goid 50679] [pmid 16862176] [evidence IMP]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [pmid 11555662] [evidence IDA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 11555662] [evidence IC ]; Catalysis of the hydrolysis of ester linkages within deoxyribonucleic acid [goid 4536] [pmid 11555662] [evidence IDA]; Catalysis of the reaction: ATP + nucleoside diphosphate = ADP + nucleoside triphosphate [goid 4550] [pmid 12972261] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16814409] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17975005] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 12972261] [evidence IDA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [pmid 12972261] [evidence IDA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" NDPKA; NM23-H1; NDPK-A; NM23; AWD; GAAD NDPKA; NM23-H1; NDPK-A; NM23; AWD; GAAD Transferase -> Phosphorylase Nucleoside, nucleotide and nucleic acid metabolism -> Purine metabolism Homo sapiens RefSeq ILMN_18063 ILMN_18063 NP NM_000270.1 NM_000270.1 4860 4557800 NM_000270.1 NP NP_000261.1 ILMN_2172174 6840075 S 1270 CTGTGGAGATGCCCAGGATTTGACTCGGGCCTTAGAACTTTGCATAGCAG 14 + 20014881-20014930 14q11.2b "Homo sapiens nucleoside phosphorylase (NP), mRNA." That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 6771276] [evidence EXP] "The chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids [goid 6139] [pmid 3029074] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of inosine, hypoxanthine riboside, a nucleoside found free but not in combination in nucleic acids except in the anticodons of some tRNAs [goid 6148] [pmid 16964310] [evidence IDA]; The covalent alteration of one or more nucleotide sites in DNA, resulting in a change in its properties [goid 6304] [pmid 10884411] [evidence TAS]; The chemical reactions and pathways resulting in the formation of urate, the anion of uric acid, 2,6,8-trioxypurine [goid 34418] [pmid 16964310] [evidence IDA]; Any process that activates or increases the rate or extent of T cell proliferation [goid 42102] [pmid 16964310] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of alpha-beta T cell differentiation [goid 46638] [pmid 16964310] [evidence IDA]" Catalysis of the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate [goid 4731] [pmid 6771276] [evidence EXP]; Catalysis of the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate [goid 4731] [pmid 16964310] [evidence IDA] PNP; PUNP; MGC125916; MGC125915; MGC117396; PRO1837 PNP; PUNP; MGC125916; MGC125915; MGC117396; PRO1837 Receptor -> Other receptor Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport;Intracellular protein traffic -> Exocytosis -> Constitutive exocytosis Homo sapiens RefSeq ILMN_137989 ILMN_30618 NPC1 NM_000271.3 NM_000271.3 4864 133930789 NM_000271.3 NPC1 NP_000262.1 ILMN_1713505 7570358 S 4250 CTTTGGCAAGCAGGAGGTGACACTAGATGGCTGTGAATGTGATCCGCTCA 18 - 19365864-19365913 18q11.2b "Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA." "The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space) [goid 5635] [pmid 12554680] [evidence IDA]; The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm [goid 5765] [evidence IEA]; A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 12554680] [evidence IDA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10821832] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The lipid bilayer surrounding a late endosome [goid 31902] [evidence IEA]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [pmid 12554680] [evidence IDA]" "A type of vesicle-mediated transport in which cells take up external materials or membrane constituents by the invagination of small region of the plasma membrane to form a new membrane-bounded vesicle [goid 6897] [evidence IEA]; The directed movement of substances into, out of or within a lysosome [goid 7041] [evidence ISS]; The chemical reactions and pathways involving bile acids, any of a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine [goid 8206] [evidence ISS]; Any process that stops, prevents or reduces the frequency, rate or extent of macroautophagy [goid 16242] [evidence IEA]; The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle [goid 33344] [evidence IEA]; Any process involved in the maintenance of an internal equilibrium of cholesterol within an organism or cell [goid 42632] [pmid 12719428] [evidence IDA]; Any process involved in the maintenance of an internal equilibrium of cholesterol within an organism or cell [goid 42632] [evidence ISS]" "Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16757520] [evidence IPI]; Combining with the hedgehog protein to initiate a change in cell activity [goid 8158] [evidence IEA]; Enables the directed movement of sterols into, out of, within or between cells. Sterol are steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule [goid 15248] [pmid 9927649] [evidence TAS]" NPC NPC Cell junction protein Signal transduction;Cell adhesion;Cell structure and motility Homo sapiens RefSeq ILMN_23086 ILMN_23086 NPHP1 NM_000272.2 NM_000272.2 4867 46397397 NM_000272.2 NPHP1 NP_000263.2 ILMN_2252300 6660500 I 3395 ACTTGAGCCCCAGTCTCAGAAATTAACATGGTATGAAGGTGTTTCCAGGC 2 - 110237463-110237512 2q13b "Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 1, mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [pmid 10665934] [evidence NAS]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]" "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 12244321] [evidence NAS]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 9361039] [evidence TAS]; The actions or reactions of an organism in response to a visual stimulus [goid 7632] [pmid 12205563] [evidence NAS]; The attachment of one cell to another cell via adhesion molecules [goid 16337] [pmid 12006559] [evidence NAS]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins [goid 30036] [pmid 12006559] [evidence NAS]" The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 12006559] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12244321] [evidence IPI] NPH1; JBTS4; SLSN1 NPH1; JBTS4; SLSN1 Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_15627 ILMN_15627 GPR143 NM_000273.1 NM_000273.1 4935 4557806 NM_000273.1 GPR143 NP_000264.1 ILMN_1756261 7040619 S 1251 TCTCCCAACCCATGGAGACCTATGAAGGGGATGTGCTGGGGGTCCAGACC X - 9653760-9653785:9653786-9653809 Xp22.2 "Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 7647783] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10471510] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [pmid 10471510] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 7647783] [evidence TAS]; The lipid bilayer surrounding a melanosome [goid 33162] [evidence IEA]" "The chemical reactions and pathways resulting in the formation of eye pigments, any general or particular coloring matter in living organisms, found or utilized in the eye [goid 6726] [pmid 7647783] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10471510] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 7647783] [evidence TAS]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; A receptor that binds an extracellular ligand and transmits the signal to a heterotrimeric G-protein complex. These receptors are characteristically seven-transmembrane receptors and are made up of hetero- or homodimers [goid 4930] [pmid 10471510] [evidence TAS] OA1 OA1 Transferase -> Transaminase Amino acid metabolism;Sensory perception -> Vision Homo sapiens RefSeq ILMN_8426 ILMN_8426 OAT NM_000274.1 NM_000274.1 4942 4557808 NM_000274.1 OAT NP_000265.1 ILMN_2068747 7610561 S 1396 GGTCCCTGGGAGCCAGCTGGAGACAGGTGGTCCTGTAAAAGCTTTATTCC 10 - 126076414-126076463 10q26.13d "Homo sapiens ornithine aminotransferase (gyrate atrophy) (OAT), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 2793865] [evidence TAS]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 3456579] [evidence NAS]" "The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 2793865] [evidence TAS]" "Catalysis of the reaction: L-ornithine + a 2-oxo acid = L-glutamate 5-semialdehyde + an L-amino acid [goid 4587] [pmid 3456579] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]" HOGA; DKFZp781A11155 HOGA; DKFZp781A11155 Transporter -> Other transporter Transport -> Other transport Homo sapiens RefSeq ILMN_8155 ILMN_177862 OCA2 NM_000275.1 NM_000275.1 4948 4557810 NM_000275.1 OCA2 NP_000266.1 ILMN_1746116 4250463 S 2795 TTCAAGCGAATGTTGGAACACCATGACCTCCTCTGTGTGTCCTTTCTCCC 15 - 25673919-25673968 15q12c-q13.1a "Homo sapiens oculocutaneous albinism II (pink-eye dilution homolog, mouse) (OCA2), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 7601462] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 8421497] [evidence TAS]; The lipid bilayer surrounding a melanosome [goid 33162] [evidence IEA]" "The chemical reactions and pathways resulting in the formation of eye pigments, any general or particular coloring matter in living organisms, found or utilized in the eye [goid 6726] [pmid 8421497] [evidence TAS]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The process whose specific outcome is the progression of a male gamete over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell [goid 7286] [evidence IEA]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [evidence IEA]; The directed movement of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, into, out of, within or between cells [goid 15746] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a melanocyte [goid 30318] [evidence IEA]; The chemical reactions and pathways resulting in the formation of melanins, pigments largely of animal origin. High molecular weight polymers of indole quinone, they are irregular polymeric structures and are divided into three groups: allomelanins in the plant kingdom and eumelanins and phaeomelanins in the animal kingdom [goid 42438] [evidence IEA]; The deposition of coloring matter in an organism, tissue or cell, occurring during development [goid 48066] [evidence IEA]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [pmid 8421497] [evidence TAS]; Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [pmid 8302318] [evidence TAS]; Catalysis of the transfer of L-tyrosine from one side of a membrane to the other. L-tyrosine is 2-amino-3-(4-hydroxyphenyl)propanoic acid [goid 5302] [pmid 7601462] [evidence TAS]; Catalysis of the transfer of arsenite from one side of a membrane to the other [goid 15105] [evidence IEA]; Catalysis of the transfer of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, from one side of the membrane to the other [goid 15137] [evidence IEA]" D15S12; EYCL3; PED; P; BOCA D15S12; EYCL3; PED; P; BOCA Phosphatase -> Other phosphatase Carbohydrate metabolism -> Monosaccharide metabolism;Signal transduction -> Other signal transduction;Neuronal activities;Sensory perception -> Vision Homo sapiens RefSeq ILMN_10257 ILMN_163255 OCRL NM_000276.3 NM_000276.3 4952 21396493 NM_000276.3 OCRL NP_000267.2 ILMN_1760855 60324 A 4802 GACCCAGACAGAAGAAATCTGCTTCCCTACCATGGCTATTCCAGCACCCC X + 128553859-128553908 Xq25g "Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The set of thin, flattened membrane-bounded compartments, called cisternae, that form the central portion of the Golgi complex. The stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack [goid 5795] [pmid 1840503] [evidence TAS]; Any vesicle associated with the Golgi complex and involved in mediating transport within the Golgi or between the Golgi and other parts of the cell [goid 5798] [pmid 1840503] [evidence TAS]" "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 7761412] [evidence TAS]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 1321346] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]" "Catalysis of the removal of a phosphate group from phosphorylated myo-inositol (1,2,3,5/4,6-cyclohexanehexol) or a phosphatidylinositol [goid 4437] [evidence IEA]; Catalysis of the removal of a phosphate group from phosphorylated myo-inositol (1,2,3,5/4,6-cyclohexanehexol) or a phosphatidylinositol [goid 4437] [pmid 1321346] [evidence TAS]; Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate [goid 4439] [pmid 7761412] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" NPHL2; OCRL1; LOCR; INPP5F NPHL2; INPP5F; OCRL1; LOCR Oxidoreductase -> Oxygenase Amino acid metabolism -> Other amino acid metabolism;Signal transduction Homo sapiens RefSeq ILMN_168715 ILMN_168715 PAH NM_000277.1 NM_000277.1 5053 4557818 NM_000277.1 PAH NP_000268.1 ILMN_2218104 6580110 S 2540 GCAGCAGATGTTGACTAAAGGCTTGGTTGGTAGATATTCAGGAAATGTTC 12 - 101756325-101756374 12q23.2a "Homo sapiens phenylalanine hydroxylase (PAH), mRNA." "The chemical reactions and pathways resulting in the breakdown of phenylalanine, 2-amino-3-phenylpropanoic acid [goid 6559] [evidence IEA]; The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents [goid 8652] [pmid 3856322] [evidence TAS]; The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan) [goid 9072] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Catalysis of the reaction: L-phenylalanine + tetrahydrobiopterin + O2 = L-tyrosine + 4-alpha-hydroxytetrahydrobiopterin [goid 4505] [pmid 3856322] [evidence TAS]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Interacting selectively with an amino acid, organic acids containing one or more amino substituents [goid 16597] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" PKU; PKU1 PKU; PKU1 Transcription factor -> Homeobox transcription factor;Nucleic acid binding -> Other DNA-binding protein Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Ectoderm development -> Neurogenesis;Developmental processes -> Mesoderm development -> Gut mesoderm development Homo sapiens RefSeq ILMN_16345 ILMN_16345 PAX2 NM_000278.2 NM_000278.2 5076 34878700 NM_000278.2 PAX2 NP_000269.2 ILMN_2353490 6450767 A 3097 GGCTGCTGCTTTGTGGAAAGACGGTGTGTGTCGTGTGAAGGCGAAACCCG 10 + 102578592-102578641 10q24.31a "Homo sapiens paired box gene 2 (PAX2), transcript variant b, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A region in a eukaryotic cell, such as a centrosome or basal body, from which microtubules grow [goid 5815] [pmid 18000879] [evidence IDA]; A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; cetriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome [goid 34451] [pmid 18000879] [evidence IDA]" "Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 122] [evidence IEA]; The process whose specific outcome is the progression of the ureteric bud over time, from its formation to the mature structure [goid 1657] [evidence IEA]; Process involved in cell fate commitment. Once determination has taken place, a cell becomes committed to differentiate down a particular pathway regardless of its environment [goid 1709] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; Generation of a long process of a neuron, that carries efferent (outgoing) action potentials from the cell body towards target cells [goid 7409] [pmid 9106533] [evidence TAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 9106533] [evidence TAS]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; The process by which the anatomical structures of the inner ear are generated and organized. Morphogenesis pertains to the creation of form. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively [goid 42472] [evidence IEA]; The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field [goid 43010] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]" Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 9106533] [evidence TAS] Transcription factor -> Homeobox transcription factor;Nucleic acid binding -> Other DNA-binding protein Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Segment specification;Developmental processes -> Ectoderm development -> Neurogenesis Homo sapiens RefSeq ILMN_634 ILMN_634 PAX6 NM_000280.2 NM_000280.2 5080 71482586 NM_000280.2 PAX6 NP_000271.1 ILMN_1789905 2690575 A 1910 GTGTCCTGTATTGTACCACTGGGGAAGGAATGGACTTGAAACAAGGACCT 11 - 31767879-31767928 11p13f "Homo sapiens paired box 6 (PAX6), transcript variant 1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]" "Process involved in cell fate commitment. Once determination has taken place, a cell becomes committed to differentiate down a particular pathway regardless of its environment [goid 1709] [evidence IEA]; The characteristic movement of immature neurons from germinal zones to specific positions where they will reside as they mature [goid 1764] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process by which the migration of an axon growth cone is directed to a specific target site in response to a combination of attractive and repulsive cues [goid 7411] [evidence IEA]; The process by which the anatomical structures of the salivary gland are generated and organized. Morphogenesis pertains to the creation of form [goid 7435] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; The establishment, maintenance and elaboration of the dorsal/ventral axis [goid 9950] [evidence IEA]; The regionalization process by which specific areas of cell differentiation are determined along the anterior-posterior axis [goid 9952] [evidence IEA]; The process whose specific outcome is the progression of the pallium over time, from its formation to the mature structure. The pallium is the roof region of the telencephalon [goid 21543] [evidence IEA]; The formation of specific regional progenitor domains along the dorsal-ventral axis in the developing forebrain [goid 21798] [evidence IEA]; The commitment of neuronal precursor cells to become specialized types of neurons in the forebrain [goid 21902] [evidence IEA]; The progression of the pituitary gland over time from its initial formation until its mature state. The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [goid 21983] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [evidence IEA]; The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) [goid 30900] [evidence IEA]; Development of a photoreceptor, a sensory cell in the eye that reacts to the presence of light. They usually contain a pigment that undergoes a chemical change when light is absorbed, thus stimulating a nerve [goid 42462] [evidence IEA]; The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field [goid 43010] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of neuron differentiation [goid 45665] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]; Any process that modulates the frequency, rate or extent of neurogenesis, the origin and formation of neurons [goid 50767] [evidence IEA]; Process involved in cell fate commitment. Once determination has taken place, a cell becomes committed to differentiate down a particular pathway regardless of its environment [goid 1709] [evidence IEA]; The characteristic movement of immature neurons from germinal zones to specific positions where they will reside as they mature [goid 1764] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process by which the migration of an axon growth cone is directed to a specific target site in response to a combination of attractive and repulsive cues [goid 7411] [evidence IEA]; The process by which the anatomical structures of the salivary gland are generated and organized. Morphogenesis pertains to the creation of form [goid 7435] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; The establishment, maintenance and elaboration of the dorsal/ventral axis [goid 9950] [evidence IEA]; The regionalization process by which specific areas of cell differentiation are determined along the anterior-posterior axis [goid 9952] [evidence IEA]; The process whose specific outcome is the progression of the pallium over time, from its formation to the mature structure. The pallium is the roof region of the telencephalon [goid 21543] [evidence IEA]; The formation of specific regional progenitor domains along the dorsal-ventral axis in the developing forebrain [goid 21798] [evidence IEA]; The commitment of neuronal precursor cells to become specialized types of neurons in the forebrain [goid 21902] [evidence IEA]; The progression of the pituitary gland over time from its initial formation until its mature state. The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [goid 21983] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [evidence IEA]; The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) [goid 30900] [evidence IEA]; Development of a photoreceptor, a sensory cell in the eye that reacts to the presence of light. They usually contain a pigment that undergoes a chemical change when light is absorbed, thus stimulating a nerve [goid 42462] [evidence IEA]; The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field [goid 43010] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of neuron differentiation [goid 45665] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]; Any process that modulates the frequency, rate or extent of neurogenesis, the origin and formation of neurons [goid 50767] [evidence IEA]; Process involved in cell fate commitment. Once determination has taken place, a cell becomes committed to differentiate down a particular pathway regardless of its environment [goid 1709] [evidence IEA]; The characteristic movement of immature neurons from germinal zones to specific positions where they will reside as they mature [goid 1764] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process by which the migration of an axon growth cone is directed to a specific target site in response to a combination of attractive and repulsive cues [goid 7411] [evidence IEA]; The process by which the anatomical structures of the salivary gland are generated and organized. Morphogenesis pertains to the creation of form [goid 7435] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; The establishment, maintenance and elaboration of the dorsal/ventral axis [goid 9950] [evidence IEA]; The regionalization process by which specific areas of cell differentiation are determined along the anterior-posterior axis [goid 9952] [evidence IEA]; The process whose specific outcome is the progression of the pallium over time, from its formation to the mature structure. The pallium is the roof region of the telencephalon [goid 21543] [evidence IEA]; The formation of specific regional progenitor domains along the dorsal-ventral axis in the developing forebrain [goid 21798] [evidence IEA]; The commitment of neuronal precursor cells to become specialized types of neurons in the forebrain [goid 21902] [evidence IEA]; The progression of the pituitary gland over time from its initial formation until its mature state. The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [goid 21983] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [evidence IEA]; The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) [goid 30900] [evidence IEA]; Development of a photoreceptor, a sensory cell in the eye that reacts to the presence of light. They usually contain a pigment that undergoes a chemical change when light is absorbed, thus stimulating a nerve [goid 42462] [evidence IEA]; The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field [goid 43010] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of neuron differentiation [goid 45665] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]; Any process that modulates the frequency, rate or extent of neurogenesis, the origin and formation of neurons [goid 50767] [evidence IEA]; The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight [goid 1654] [pmid 10747901] [evidence TAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord [goid 7417] [pmid 10747901] [evidence TAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 10441571] [evidence TAS]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [pmid 10441571] [evidence TAS]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]" "Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 10747901] [evidence TAS]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 10441571] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16098226] [evidence IPI]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]" WAGR; D11S812E; AN2; MGDA; MGC17209; AN MGDA; WAGR; MGC17209; AN; D11S812E; AN2 Lyase -> Dehydratase Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription;Coenzyme and prosthetic group metabolism -> Pterin metabolism Homo sapiens RefSeq ILMN_139112 ILMN_2950 PCBD1 NM_000281.2 NM_000281.2 5092 50086629 NM_000281.2 PCBD1 NP_000272.1 ILMN_1795906 4860184 A 298 TGCTGCCAAACCTGAGGGCTGTGGGGTGGAATGAGCTGGAAGGCCGTGAT 10 - 72315599-72315648 10q22.1c "Homo sapiens pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (PCBD1), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The chemical reactions and pathways resulting in the formation of tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine [goid 6729] [evidence IEA]; Any process that modulates the frequency, rate or extent of protein homodimerization, interacting selectively with an identical protein to form a homodimer [goid 43496] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription [goid 45941] [evidence IEA]; The formation of a protein homotetramer, a macromolecular structure consisting of four noncovalently associated identical subunits [goid 51289] [evidence IEA]; The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of nonidentical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer [goid 51291] [evidence IEA]" "The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 1763325] [evidence TAS]; Catalysis of the reaction: L-phenylalanine + tetrahydrobiopterin + O2 = L-tyrosine + 4-alpha-hydroxytetrahydrobiopterin [goid 4505] [evidence IEA]; Catalysis of the reaction: (6R)-6-(L-erythro-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4-alpha-hydroxypterin = (6R)-6-(L-erythro-1,2-dihydroxypropyl)-7,8-dihydro-6H-pterin + H2O [goid 8124] [evidence IEA]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 16189514] [evidence IPI]" PHS; PCD; DCOH; PCBD PHS; PCD; DCOH; PCBD Lyase -> Dehydratase Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription;Coenzyme and prosthetic group metabolism -> Pterin metabolism Homo sapiens RefSeq ILMN_2950 ILMN_2950 PCBD1 NM_000281.2 NM_000281.2 5092 50086629 NM_000281.2 PCBD1 NP_000272.1 ILMN_1786105 3140021 I 707 GTGGGATGTGCCAGTGTCCCCACCAACACCAGGAATTTAGACCTTTTCCC 10 - 72313522-72313571 10q22.1c "Homo sapiens pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (PCBD1), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The chemical reactions and pathways resulting in the formation of tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine [goid 6729] [evidence IEA]; Any process that modulates the frequency, rate or extent of protein homodimerization, interacting selectively with an identical protein to form a homodimer [goid 43496] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription [goid 45941] [evidence IEA]; The formation of a protein homotetramer, a macromolecular structure consisting of four noncovalently associated identical subunits [goid 51289] [evidence IEA]; The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of nonidentical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer [goid 51291] [evidence IEA]" "The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 1763325] [evidence TAS]; Catalysis of the reaction: L-phenylalanine + tetrahydrobiopterin + O2 = L-tyrosine + 4-alpha-hydroxytetrahydrobiopterin [goid 4505] [evidence IEA]; Catalysis of the reaction: (6R)-6-(L-erythro-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4-alpha-hydroxypterin = (6R)-6-(L-erythro-1,2-dihydroxypropyl)-7,8-dihydro-6H-pterin + H2O [goid 8124] [evidence IEA]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 16189514] [evidence IPI]" PHS; PCD; DCOH; PCBD PHS; PCD; DCOH; PCBD Ligase -> Other ligase Carbohydrate metabolism -> Gluconeogenesis Homo sapiens RefSeq ILMN_6045 ILMN_6045 PCCA NM_000282.2 NM_000282.2 5095 65506441 NM_000282.2 PCCA NP_000273.2 ILMN_1714384 4730309 S 2175 CAAGCTGGAGACACAGTTGGAGAAGGGGATCTGCTCGTGGAGCTGGAATG 13 + 99980371-99980420 13q32.3b-q32.3c "Homo sapiens propionyl Coenzyme A carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the reaction: ATP + propanoyl-CoA + HCO3- = ADP + phosphate + (S)-methylmalonyl-CoA [goid 4658] [evidence IEA]; Interacting selectively with biotin (cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid), the (+) enantiomer of which is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions [goid 9374] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with biotin (cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid), the (+) enantiomer of which is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions [goid 9374] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of the reaction: ATP + propanoyl-CoA + HCO3- = ADP + phosphate + (S)-methylmalonyl-CoA [goid 4658] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with biotin (cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid), the (+) enantiomer of which is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions [goid 9374] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + propanoyl-CoA + HCO3- = ADP + phosphate + (S)-methylmalonyl-CoA [goid 4658] [pmid 3460076] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with biotin (cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid), the (+) enantiomer of which is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions [goid 9374] [pmid 3460076] [evidence TAS]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]" Hydrolase -> Phosphodiesterase Nucleoside, nucleotide and nucleic acid metabolism -> Metabolism of cyclic nucleotides;Signal transduction;Sensory perception -> Vision Homo sapiens RefSeq ILMN_29765 ILMN_29765 PDE6B NM_000283.1 NM_000283.1 5158 4505668 NM_000283.1 PDE6B NP_000274.1 ILMN_1655974 3850474 S 2607 CTATGGCTCCCTCAATCTTCACCCACTAGGATTTGGGTTCTGCCTGTGGC 4 + 653917-653966 4p16.3d "Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant) (PDE6B), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 8394174] [evidence TAS]; The sequence of reactions within a cell required to convert absorbed photons from visible light into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm [goid 7603] [pmid 8394174] [evidence TAS]; The series of events in which a light stimulus (in the form of photons) is received and converted into a molecular signal [goid 9583] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" "Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: guanosine 3',5'-cyclic phosphate + H2O = guanosine 5'-phosphate [goid 47555] [evidence IEA]" CSNB3; PDEB CSNB3; PDEB Oxidoreductase -> Dehydrogenase Carbohydrate metabolism Homo sapiens RefSeq ILMN_9293 ILMN_9293 PDHA1 NM_000284.1 NM_000284.1 5160 4505684 NM_000284.1 PDHA1 NP_000275.1 ILMN_1772369 6450372 S 1300 TACCTTCAGGGGGCTACCAGACAGTGTTCTCAACTTGGTTAAGGAGGAAG X + 19287714-19287763 Xp22.12b "Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 3034892] [evidence TAS]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the oxidative decarboxylation of pyruvate [goid 4738] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a disulfide [goid 16624] [evidence IEA]; Catalysis of the oxidative decarboxylation of pyruvate [goid 4738] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a disulfide [goid 16624] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a disulfide [goid 16624] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a disulfide [goid 16624] [evidence IEA]; Catalysis of the oxidative decarboxylation of pyruvate [goid 4738] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a disulfide [goid 16624] [evidence IEA]; Catalysis of the reaction: pyruvate + lipoamide = S-acetyldihydrolipoamide + CO2 [goid 4739] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the oxidative decarboxylation of pyruvate [goid 4738] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a disulfide [goid 16624] [evidence IEA]" PDHCE1A; PDHA; PHE1A PDHCE1A; PDHA; PHE1A Protease -> Metalloprotease Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_22829 ILMN_22829 PEPD NM_000285.2 NM_000285.2 5184 149589007 NM_000285.2 PEPD NP_000276.2 ILMN_1717674 5670400 S 1687 TGGTCAGCACTCCAGTAGCGAGAGACGGCACCCAGAATCAGATCCCAGCT 19 - 38569970-38570019 19q13.11b "Homo sapiens peptidase D (PEPD), mRNA." "The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 1972707] [evidence TAS]; The chemical reactions and pathways involving amino acids, organic acids containing one or more amino substituents [goid 6520] [pmid 1972707] [evidence TAS]; The proteolytic chemical reactions and pathways resulting in the breakdown of collagen in the extracellular matrix, usually carried out by proteases secreted by nearby cells [goid 30574] [evidence IEA]" "Catalysis of the hydrolysis of N-terminal amino acid residues from in a polypeptide chain [goid 4177] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 8235] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with manganese (Mn) ions [goid 30145] [evidence IEA]; Catalysis of the hydrolysis of N-terminal amino acid residues from in a polypeptide chain [goid 4177] [evidence IEA]; Catalysis of the hydrolysis of C-terminal amino acid residues from a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 4181] [pmid 1972707] [evidence TAS]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the hydrolysis of a dipeptide [goid 16805] [evidence IEA]; Interacting selectively with manganese (Mn) ions [goid 30145] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" PROLIDASE; MGC10905 PROLIDASE; MGC10905 Transfer/carrier protein -> Other transfer/carrier protein Intracellular protein traffic -> Peroxisome transport Homo sapiens RefSeq ILMN_164025 ILMN_164025 PEX12 NM_000286.1 NM_000286.1 5193 4505720 NM_000286.1 PEX12 NP_000277.1 ILMN_2200708 5130092 S 2302 AAAAGGAATAGGGGTAGAGTGTTACAGAGAGTAGTCTGAAGATTCCTGTG 17 - 30926176-30926225 17q12a "Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA." "The lipid bilayer surrounding a peroxisome [goid 5778] [evidence IEA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 9922452] [evidence IDA]; The lipid bilayer surrounding a peroxisome [goid 5778] [evidence IEA]; Penetrating at least one phospholipid bilayer of a peroxisomal membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5779] [pmid 9090384] [evidence IDA]; Penetrating at least one phospholipid bilayer of a peroxisomal membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5779] [pmid 10562279] [evidence TAS]; Penetrating at least one phospholipid bilayer of a peroxisomal membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5779] [pmid 9354782] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules [goid 7031] [evidence IEA]; The import of proteins into the peroxisomal matrix. A peroxisome targeting signal (PTS) binds to a soluble receptor protein in the cytosol, and the resulting complex then binds to a receptor protein in the peroxisome membrane and is imported [goid 16558] [pmid 9090384] [evidence IMP]; The import of proteins into the peroxisomal matrix. A peroxisome targeting signal (PTS) binds to a soluble receptor protein in the cytosol, and the resulting complex then binds to a receptor protein in the peroxisome membrane and is imported [goid 16558] [pmid 12456682] [evidence NAS]; The import of proteins into the peroxisomal matrix. A peroxisome targeting signal (PTS) binds to a soluble receptor protein in the cytosol, and the resulting complex then binds to a receptor protein in the peroxisome membrane and is imported [goid 16558] [pmid 10562279] [evidence IMP]" "Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 10562279] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 10562279] [evidence IMP]" Molecular function unclassified Intracellular protein traffic -> Peroxisome transport Homo sapiens RefSeq ILMN_3043 ILMN_3043 PEX6 NM_000287.2 NM_000287.2 5190 21361243 NM_000287.2 PEX6 NP_000278.2 ILMN_1683279 3440086 S 3067 TCCAGGAGATCCCAGGGTGCAAAGTGGCATTGAGACAGCAGCAACAGCTC 6 - 43039877-43039926 6p21.1d "Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 8670792] [evidence IDA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 11439091] [evidence IDA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 16854980] [evidence IDA]; The lipid bilayer surrounding a peroxisome [goid 5778] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 16854980] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" The process of directing proteins towards the peroxisome using signals contained within the protein [goid 6625] [pmid 16854980] [evidence IMP]; The process by which proteins are moved across the peroxisomal membrane into the matrix. It is likely that the peroxisome targeting sequence receptor remains associated with cargo proteins during translocation [goid 16561] [pmid 8670792] [evidence IMP]; Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation [goid 50821] [pmid 8670792] [evidence IMP] "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: a nucleoside triphosphate + H2O = nucleoside diphosphate + phosphate [goid 17111] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: a nucleoside triphosphate + H2O = nucleoside diphosphate + phosphate [goid 17111] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 16854980] [evidence IMP]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 16854980] [evidence IPI]; Interacting selectively with any protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 32403] [pmid 16854980] [evidence IDA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to directly drive some other reaction, for example ion transport across a membrane [goid 42623] [pmid 16854980] [evidence IMP]" PAF-2; PAF2; PXAAA1 PAF-2; PAF2; PXAAA1 Receptor -> Other receptor Intracellular protein traffic -> Peroxisome transport;Transport Homo sapiens RefSeq ILMN_25066 ILMN_25066 PEX7 NM_000288.1 NM_000288.1 5191 4505730 NM_000288.1 PEX7 NP_000279.1 ILMN_1729650 4040017 S 958 GACTTCAGTCTTCAGAGCCCCACTCAGGTGGCTGACTGTTCTTGGGATGA 6 + 137261046-137261072:137276289-137276311 6q23.3c "Homo sapiens peroxisomal biogenesis factor 7 (PEX7), mRNA." "That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 9090382] [evidence TAS]" "The characteristic movement of immature neurons from germinal zones to specific positions where they will reside as they mature [goid 1764] [evidence IEA]; The formation of bone by the replacement of cartilage tissue with mineralized bone [goid 1958] [evidence IEA]; The metabolic oxidation of a long-chain fatty acid by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A [goid 6635] [evidence IEA]; The import of proteins into the peroxisomal matrix. A peroxisome targeting signal (PTS) binds to a soluble receptor protein in the cytosol, and the resulting complex then binds to a receptor protein in the peroxisome membrane and is imported [goid 16558] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; The chemical reactions and pathways resulting in the formation of ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol [goid 8611] [pmid 12522768] [evidence IMP]; The chemical reactions and pathways resulting in the formation of ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol [goid 8611] [pmid 9090383] [evidence IMP]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The import of proteins into the peroxisomal matrix. A peroxisome targeting signal (PTS) binds to a soluble receptor protein in the cytosol, and the resulting complex then binds to a receptor protein in the peroxisome membrane and is imported [goid 16558] [pmid 12522768] [evidence IMP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" "Interacting selectively with a type 2 peroxisome targeting signal, a nonapeptide with a broad consensus sequence of (R/K)-(L/V/I)-(XXXXX)-(H/Q)-(L/A/F) [goid 5053] [pmid 9090381] [evidence IDA]" RCDP1; RD; PTS2R RCDP1; RD; PTS2R Kinase -> Carbohydrate kinase Carbohydrate metabolism -> Glycolysis Homo sapiens RefSeq ILMN_19848 ILMN_19848 PFKM NM_000289.3 NM_000289.3 5213 39725712 NM_000289.3 PFKM NP_000280.1 ILMN_2043809 7100072 S 2556 GACTTCTGCCCCAGCTTTATCTGTCACACAAGGCTGGGCACCTCTAGTGC 12 + 46825963-46826012 12q13.11c "Homo sapiens phosphofructokinase, muscle (PFKM), mRNA." "A protein complex that possesses 6-phosphofructokinase activity; homodimeric and allosteric homotetrameric forms are known [goid 5945] [evidence NAS]; A protein complex that possesses 6-phosphofructokinase activity; homodimeric and allosteric homotetrameric forms are known [goid 5945] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 18029348] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 6444721] [evidence EXP]; A protein complex that possesses 6-phosphofructokinase activity; homodimeric and allosteric homotetrameric forms are known [goid 5945] [pmid 6444721] [evidence IDA]" "The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence NAS]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha(1->4) glycosidic linkage, joined together by alpha(1->6) glycosidic linkages [goid 5977] [evidence IEA]; Any process that modulates the frequency, rate or extent of glycolysis [goid 6110] [pmid 8444874] [evidence TAS]" "Catalysis of the reaction: ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate [goid 3872] [evidence NAS]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate [goid 3872] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate [goid 3872] [pmid 6444721] [evidence IDA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 12649290] [evidence IPI]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" PFKX; PFK-1; MGC8699; PFK-M; GSD7 PFK-1; PFKX; MGC8699; PFK-M; GSD7 Isomerase -> Mutase Carbohydrate metabolism -> Glycolysis Homo sapiens RefSeq ILMN_27820 ILMN_27820 PGAM2 NM_000290.2 NM_000290.2 5224 50593009 NM_000290.2 PGAM2 NP_000281.2 ILMN_1668072 1400181 S 532 TCTGGAACGAGGAGATTGTTCCCCAGATCAAGGCCGGCAAGCGAGTGCTC 7 - 44071004-44071053 7p13d "Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA." "The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; A process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope [goid 6941] [pmid 6262916] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the transfer of a phosphate group from one position to another within a single molecule [goid 16868] [evidence IEA]; Catalysis of the reaction: 3-phospho-D-glyceroyl phosphate = 2,3-bisphospho-D-glycerate [goid 4082] [evidence IEA]; Catalysis of the reaction: 2,3-diphosphoglycerate + H2O = 3-phosphoglycerate + phosphate [goid 4083] [evidence IEA]; Catalysis of the reaction: 2-phospho-D-glycerate = 3-phospho-D-glycerate [goid 4619] [pmid 6262916] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5 [goid 16853] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [evidence NAS]" MGC88743; PGAMM MGC88743; PGAMM Kinase -> Carbohydrate kinase Carbohydrate metabolism -> Glycolysis Homo sapiens RefSeq ILMN_180949 ILMN_180949 PGK1 NM_000291.2 NM_000291.2 5230 22095338 NM_000291.2 PGK1 NP_000282.1 ILMN_2216852 360735 S 2175 CCATGGAGGAAGGCTCTGTTCCACATATATTTCCACTTCTTCATTCTCTC X + 77268835-77268884 Xq21.1a "Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide [goid 16310] [evidence ISS]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + 3-phospho-D-glycerate = ADP + 3-phospho-D-glyceroyl phosphate [goid 4618] [evidence ISS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence ISS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" MIG10; MGC142128; MGC117307; MGC8947; PGKA MGC117307; MIG10; MGC8947; PGKA; MGC142128 Select regulatory molecule -> Kinase modulator -> Kinase activator Carbohydrate metabolism -> Glycogen metabolism Homo sapiens RefSeq ILMN_20799 ILMN_20799 PHKA2 NM_000292.1 NM_000292.1 5256 4505780 NM_000292.1 PHKA2 NP_000283.1 ILMN_1814074 1050059 S 4452 CCTCTTCGTTCACCTTGGCTCATGGTCTTCCAGGGTTTTTATCCTGGCTG X - 18820856-18820905 Xp22.13a "Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA." The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; An enzyme complex that catalyzes the phosphorylation of phosphorylase b to form phosphorylase a [goid 5964] [pmid 7549948] [evidence TAS] "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [pmid 7549948] [evidence TAS]; The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha(1->4) glycosidic linkage, joined together by alpha(1->6) glycosidic linkages [goid 5977] [evidence IEA]; The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 7549948] [evidence TAS]; The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [pmid 7549948] [evidence TAS]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a [goid 4689] [pmid 7549948] [evidence TAS]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Catalysis of the hydrolysis of peptide bonds by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 8237] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]" PYKL; XLG; PYK; XLG2; PHK PYKL; XLG; PYK; XLG2; PHK Select regulatory molecule -> Kinase modulator -> Kinase activator Carbohydrate metabolism -> Glycogen metabolism Homo sapiens RefSeq ILMN_27149 ILMN_27149 PHKB NM_000293.1 NM_000293.1 5257 4505782 NM_000293.1 PHKB NP_000284.1 ILMN_2288232 150349 I 4006 AGGCTCAGCACAGTAGCTCACACCTGAAATCTTAGCACTTCGGGAGGCTG 16 + 46291478-46291527 16q12.1a "Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA." The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA] "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha(1->4) glycosidic linkage, joined together by alpha(1->6) glycosidic linkages [goid 5977] [pmid 9402963] [evidence TAS]; The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 9402963] [evidence TAS]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]" DKFZp781E15103; FLJ41698 FLJ41698; DKFZp781E15103 Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase Carbohydrate metabolism -> Glycogen metabolism;Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Muscle contraction Homo sapiens RefSeq ILMN_1809 ILMN_1809 PHKG2 NM_000294.1 NM_000294.1 5261 4505784 NM_000294.1 PHKG2 NP_000285.1 ILMN_1669607 3310358 S 1249 GGCCCTGAAGAGGAGGGAGACTCTGCTGCTATAACTGAGGATGAGGCCGT 16 + 30675854-30675903 16p11.2c "Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), mRNA." "The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; An enzyme complex that catalyzes the phosphorylation of phosphorylase b to form phosphorylase a [goid 5964] [evidence IEA]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues [goid 5978] [evidence IEA]; The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 8896567] [evidence TAS]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence NAS]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence NAS]; Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a [goid 4689] [pmid 2948189] [evidence TAS]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence NAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" Select regulatory molecule -> Protease inhibitor -> Serine protease inhibitor Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_1034 ILMN_1034 SERPINA1 NM_000295.3 NM_000295.3 5265 50363216 NM_000295.3 SERPINA1 NP_000286.3 ILMN_1764980 6770333 I 90 AGTGGACTTAGCCCCTGTTTGCTCCTCCGATAACTGGGGTGACCTTGGTT 14 - 93924765-93924814 14q32.13a "Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 1, mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 59727] [evidence EXP]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 16192646] [evidence IMP]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; The volume enclosed by the membrane of the platelet alpha granule [goid 31093] [pmid 59727] [evidence EXP]" "Process involving non-antibody proteins whose concentrations in the plasma increase in response to infection or injury of homeothermic animals [goid 6953] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [evidence IEA]" "Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [pmid 12878203] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16192646] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15845869] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12878203] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" PI1; MGC23330; PRO2275; A1AT; AAT; MGC9222; PI; A1A PI1; MGC23330; PRO2275; A1AT; AAT; MGC9222; PI; A1A Ion channel Transport -> Ion transport -> Cation transport;Developmental processes -> Endoderm development;Homeostasis -> Other homeostasis activities Homo sapiens RefSeq ILMN_167901 ILMN_167901 PKD2 NM_000297.2 NM_000297.2 5311 33286447 NM_000297.2 PKD2 NP_000288.1 ILMN_2052891 70161 S 4717 ATTTGAAGTGCAGCTATTATGTGGTATCCATGTGTATCGACCATGTGCCA 4 + 89217614-89217663 4q22.1b "Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10770959] [evidence TAS]; A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole [goid 5929] [evidence IEA]; A short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium or flagellum that is similar in structure to a centriole. The basal body serves as a nucleation site for axoneme growth [goid 5932] [pmid 15337773] [evidence IDA]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [pmid 10760273] [evidence IPI]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 8650545] [evidence TAS]" "The directed movement of cations, atoms or small molecules with a net positive charge, into, out of, within or between cells [goid 6812] [pmid 8650545] [evidence TAS]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]; The regulation of the levels, transport, and metabolism of calcium ions within a cell or between a cell and its external environment [goid 6874] [evidence IEA]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [evidence IEA]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [pmid 10760273] [evidence TAS]; Any process by which STAT proteins (Signal Transducers and Activators of Transcription) are activated by members of the JAK (janus activated kinase) family of tyrosine kinases, following the binding of cytokines to their cognate receptor. Once activated, STATs dimerize and translocate to the nucleus and modulate the expression of target genes [goid 7259] [evidence IEA]; The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry [goid 7368] [evidence IEA]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [pmid 9171830] [evidence TAS]; The series of events by which a mechanical stimulus is received by a cell and converted into a molecular signal [goid 50982] [evidence IEA]" "Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of a chloride ion by a voltage-gated channel [goid 5247] [pmid 8650545] [evidence TAS]; Catalysis of the transmembrane transfer of a sodium ion by a voltage-gated channel [goid 5248] [pmid 8650545] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 8650545] [evidence TAS]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 9171830] [evidence TAS]; Interacting selectively with any protein component of any cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton) [goid 8092] [pmid 10760273] [evidence TAS]" PKD4; PC2; APKD2; MGC138468; MGC138466 PC2; PKD4; APKD2; MGC138468; MGC138466 Kinase -> Carbohydrate kinase Carbohydrate metabolism -> Glycolysis Homo sapiens RefSeq ILMN_166011 ILMN_166011 PKLR NM_000298.4 NM_000298.4 5313 82659098 NM_000298.4 PKLR NP_000289.1 ILMN_2380561 3460463 A 2433 CCCACTCATGTTGTTCCCACACACAAACCAAGAGCCAAAAATGAGTGTGT 1 - 153526254-153526303 1q22a "Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA." "The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism [goid 51707] [evidence IEA]" "Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate [goid 4743] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate [goid 4743] [pmid 3126495] [evidence TAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]" PKL; PK1; RPK PKL; PK1; RPK Kinase -> Carbohydrate kinase Carbohydrate metabolism -> Glycolysis Homo sapiens RefSeq ILMN_166011 ILMN_166011 PKLR NM_000298.4 NM_000298.4 5313 82659098 NM_000298.4 PKLR NP_000289.1 ILMN_2279397 6330451 I 4 GCCCCAGGCCCACACTGAAAGCATGTCGATCCAGGAGAACATATCATCCC 1 - 153537782-153537810:153537811-153537831 1q22a "Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA." "The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism [goid 51707] [evidence IEA]" "Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate [goid 4743] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate [goid 4743] [pmid 3126495] [evidence TAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]" PKL; PK1; RPK PKL; PK1; RPK Cytoskeletal protein -> Intermediate filament -> Intermediate filament binding protein;Cell junction protein -> Other cell junction protein Signal transduction -> Cell communication;Cell adhesion Homo sapiens RefSeq ILMN_22719 ILMN_22719 PKP1 NM_000299.2 NM_000299.2 5317 53729345 NM_000299.2 PKP1 NP_000290.2 ILMN_1716424 1440441 I 1494 GGCATGCGGGAGCTTCTGGCTCTTGTTCCGCAAAGGGCCACTAGTAGCAG 1 + 199555577-199555626 1q32.1c "Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9369526] [evidence NAS]; A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins [goid 5882] [pmid 7527055] [evidence TAS]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; A specialised type of cell junction into which intermediate filaments of adjacent cells are inserted. This type of cell junction is characteristic of epithelia. Desmosomes are particularly conspicuous in tissues such as skin that have to withstand mechanical stress [goid 30057] [pmid 7527055] [evidence NAS]" "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 10852826] [evidence NAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 7527055] [evidence NAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]" "Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [pmid 9326952] [evidence TAS]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [pmid 7527055] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with an intermediate filament, a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of higher eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space [goid 19215] [pmid 10852826] [evidence NAS]; The action of a molecule that contributes to the structural integrity of an epidermal cutaneous structure [goid 30280] [pmid 7527055] [evidence NAS]" B6P; MGC138829 B6P; MGC138829 Hydrolase -> Lipase -> Phospholipase Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism;Signal transduction Homo sapiens RefSeq ILMN_13069 ILMN_13069 PLA2G2A NM_000300.2 NM_000300.2 5320 20149501 NM_000300.2 PLA2G2A NP_000291.1 ILMN_1740586 4860152 S 795 ATGCAGAAAGCATCCCTCACCCATCCTAGAGGCCAGGCAGGAGCCCTTCT 1 - 20174643-20174692 1p36.13a "Homo sapiens phospholipase A2, group IIA (platelets, synovial fluid) (PLA2G2A), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 9272153] [evidence TAS]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 11256614] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester [goid 6644] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]" "Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: phosphatidylcholine + H2O = 1-acylglycerophosphocholine + a carboxylate; requires Ca2+ [goid 47498] [pmid 9272153] [evidence TAS]" sPLA2; PLAS1; PLA2S; PLA2L; PLA2; MOM1; PLA2B sPLA2; PLAS1; PLA2S; PLA2; PLA2L; MOM1; PLA2B Signaling molecule -> Peptide hormone;Select regulatory molecule -> Protease inhibitor -> Other protease inhibitor;Select regulatory molecule -> Other enzyme regulator -> Other enzyme inhibitor;Protease -> Serine protease;Select calcium binding protein -> Calmodulin related protein;Select calcium binding protein -> Annexin Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport;Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting;Apoptosis;Developmental processes -> Mesoderm development -> Angiogenesis;Blood circulation and gas exchange;Cell proliferation and differentiation Homo sapiens RefSeq ILMN_22981 ILMN_22981 PLG NM_000301.1 NM_000301.1 5340 4505880 NM_000301.1 PLG NP_000292.1 ILMN_1714446 3450332 S 2262 TGGAAGAGTCCAATCCACCGAACTCTGTGCTGGGCATTTGGCCGGAGGCA 6 + 161093219-161093268 6q26a "Homo sapiens plasminogen (PLG), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2318848] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2962641] [evidence EXP]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 6216475] [evidence IDA]" "The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [pmid 11257124] [evidence TAS]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 1986355] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 8910613] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of angiogenesis [goid 16525] [pmid 11257124] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of the migration of the endothelial cells of blood vessels [goid 43537] [pmid 11257124] [evidence TAS]; The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling [goid 48771] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of fibrinolysis, an ongoing process that solubilizes fibrin, resulting in the removal of small blood clots [goid 51918] [pmid 14726399] [evidence IDA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [evidence IEA]; The regrowth of lost or destroyed tissues [goid 42246] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a myoblast. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers [goid 45445] [evidence IEA]; The cellular homeostatic process by which a muscle fiber is preserved in a stable functional or structural state [goid 46716] [evidence IEA]" "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 9242524] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Interacting selectively with an apolipoprotein, the protein component of a lipoprotein complex [goid 34185] [pmid 16480936] [evidence IPI]" DKFZp779M0222 DKFZp779M0222 Oxidoreductase -> Oxygenase Protein metabolism and modification -> Other protein metabolism Homo sapiens RefSeq ILMN_20559 ILMN_20559 PLOD1 NM_000302.2 NM_000302.2 5351 32307143 NM_000302.2 PLOD1 NP_000293.2 ILMN_1684391 60437 S 2929 CCTGTCCTGGATGCCTCTGAAGAGAGGGACAGACCGTCAGAAACTGGAGA 1 + 11958106-11958155 1p36.22a "Homo sapiens procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA." "The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The lipid bilayer surrounding the rough endoplasmic reticulum [goid 30867] [evidence IEA]" "A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level [goid 1666] [pmid 15174142] [evidence IEP]; The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [pmid 1577494] [evidence NAS]; The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 8449506] [evidence IMP]; The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 1577494] [evidence TAS]; The chemical reactions and pathways involving a specific protein, rather than of proteins in general. Includes protein modification [goid 19538] [evidence IEA]; The chemical reactions and pathways resulting in the formation of hydroxylysine (5-hydroxy-2,6-diaminohexanoic acid), a chiral alpha-amino acid [goid 46947] [pmid 1577494] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [pmid 1577494] [evidence TAS]" "Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from one donor, and two oxygen atoms is incorporated into a donor [goid 16702] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Catalysis of the reaction: procollagen L-lysine + 2-oxoglutarate + O2 = procollagen 5-hydroxy-L-lysine + succinate + CO2 [goid 8475] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from one donor, and two oxygen atoms is incorporated into a donor [goid 16702] [evidence IEA]; Interacting selectively with L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species [goid 31418] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 1577494] [evidence TAS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" LLH; PLOD; LH LLH; PLOD; LH Isomerase -> Mutase Carbohydrate metabolism -> Monosaccharide metabolism Homo sapiens RefSeq ILMN_15498 ILMN_15498 PMM2 NM_000303.1 NM_000303.1 5373 4557838 NM_000303.1 PMM2 NP_000294.1 ILMN_1785336 1260315 S 2093 ACCTGGTTCCCTCCAAACCTCCCAGCCACTCGGGCTTGTAACTGTCTGAG 16 + 8850487-8850536 16p13.2b "Homo sapiens phosphomannomutase 2 (PMM2), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The addition of a sugar unit to a protein amino acid, e.g. the addition of glycan chains to proteins [goid 6486] [pmid 9140401] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the formation of GDP-mannose, a substance composed of mannose in glycosidic linkage with guanosine diphosphate [goid 9298] [pmid 9140401] [evidence TAS]" Catalysis of the reaction: D-mannose 1-phosphate = D-mannose 6-phosphate [goid 4615] [pmid 9140401] [evidence TAS]; Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5 [goid 16853] [evidence IEA] CDGS; CDG1a; CDG1 CDGS; CDG1a; CDG1 Cytoskeletal protein -> Other cytoskeletal proteins Neuronal activities -> Other neuronal activity;Apoptosis;Developmental processes;Cell proliferation and differentiation;Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_21743 ILMN_21743 PMP22 NM_000304.2 NM_000304.2 5376 24430161 NM_000304.2 PMP22 NP_000295.1 ILMN_1659312 4280047 I 87 GCCCTGTGGGGAGGGTCTTGCCTTAACATCCCTTGCATTTGGCTGCAAAG 17 - 15109233-15109282 17p12a "Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 1, mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse [goid 7268] [pmid 8275092] [evidence TAS]; The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands [goid 7422] [pmid 8275092] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; Behavior that is dependent upon the sensation of a mechanical stimulus [goid 7638] [evidence IEA]; The process by which the wraps of cell membrane that constitute myelin are laid down around an axon in the central or peripheral nervous system [goid 32288] [evidence IEA]" CMT1A; GAS-3; DSS; CMT1E; MGC20769; HMSNIA; HNPP; Sp110 CMT1A; GAS-3; DSS; CMT1E; MGC20769; HMSNIA; HNPP; Sp110 Oxidoreductase -> Peroxidase;Hydrolase -> Esterase Phosphate metabolism;Immunity and defense -> Detoxification Homo sapiens RefSeq ILMN_27173 ILMN_27173 PON2 NM_000305.2 NM_000305.2 5445 66529293 NM_000305.2 PON2 NP_000296.2 ILMN_2354381 3140390 A 1436 GCACAAAGTAAGCCTCACCTTTGCCTTCCAACTGCCAGAACATGGATTCC 7 - 94872278-94872327 7q21.3b "Homo sapiens paraoxonase 2 (PON2), transcript variant 1, mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "Catalysis of the reaction: a phenyl acetate + H2O = a phenol + acetate [goid 4064] [evidence IEA]; Catalysis of the reaction: aryl dialkyl phosphate + H2O = dialkyl phosphate + an aryl alcohol [goid 4063] [evidence IEA]; Catalysis of the reaction: a phenyl acetate + H2O = a phenol + acetate [goid 4064] [pmid 8661009] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" Transcription factor -> Homeobox transcription factor Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes Homo sapiens RefSeq ILMN_14338 ILMN_168004 POU1F1 NM_000306.1 NM_000306.1 5449 4505954 NM_000306.1 POU1F1 NP_000297.1 ILMN_1706403 1010341 S 840 CCTTCTTCTCAAGAGATCATGAGGATGGCTGAAGAACTGAATCTGGAGAA 3 - 87391845-87391894 3p11.2a "Homo sapiens POU class 1 homeobox 1 (POU1F1), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; Any complex, distinct from RNA polymerase, including one or more polypeptides capable of binding DNA at promoters or at cis-acting regulatory sequences, and regulating transcription [goid 5667] [evidence IEA]" "The process involved in the specification of cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment [goid 1708] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 1487156] [evidence TAS]; Any process that activates or increases the rate or extent of cell proliferation [goid 8284] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 9392392] [evidence TAS]; The control of viability and duration in the adult phase of the life-cycle [goid 8340] [evidence IEA]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [pmid 9482665] [evidence TAS]; The progression of the pituitary gland over time from its initial formation until its mature state. The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [goid 21983] [evidence IEA]; The process whereby a precursor cell type acquires the specialized features of a B cell [goid 30183] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of inositol trisphosphate [goid 32962] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of growth of an organism to reach its usual body size [goid 40018] [evidence IEA]; Any process that modulates the frequency, rate or extent of insulin-like growth factor receptor signaling [goid 43567] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]; The process whose specific outcome is the progression of a somatotropin secreting cell over time, from its formation to the mature structure. A somatotropin secreting cell is an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin [goid 60133] [evidence IEA]" "Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with chromatin, the network of fibers of DNA and protein that make up the chromosomes of the eukaryotic nucleus during interphase [goid 3682] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 1487156] [evidence TAS]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9482665] [evidence TAS]; Interacting selectively with a transcription factor, any protein required to initiate or regulate transcription [goid 8134] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]" GHF-1; Pit-1 beta; PIT1; Pit-1 PIT1; GHF-1; Pit-1 beta; Pit-1 Transcription factor -> Homeobox transcription factor Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes Homo sapiens RefSeq ILMN_1623 ILMN_165590 POU3F4 NM_000307.2 NM_000307.2 5456 110624762 NM_000307.2 POU3F4 NP_000298.2 ILMN_1738003 3190639 S 1047 GAAAAGAATGACTCCGCCAGGGGATCAGCAGCCGCATGAGGTTTATTCGC X + 82650987-82651036 Xq21.1d "Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]" "Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 7839145] [evidence TAS]; The process whose specific outcome is the progression of the inner ear over time, from its formation to the mature structure [goid 48839] [evidence IEA]" "The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 7839145] [evidence TAS]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]" BRN4; OTF9; BRAIN-4; DFN3 BRN4; OTF9; BRAIN-4; DFN3 Protease -> Serine protease Protein metabolism and modification -> Proteolysis;Signal transduction -> Cell surface receptor mediated signal transduction;Intracellular protein traffic -> Lysosome transport Homo sapiens RefSeq ILMN_10174 ILMN_10174 CTSA NM_000308.2 NM_000308.2 5476 119395728 NM_000308.2 CTSA NP_000299.2 ILMN_1719286 6840246 S 1856 CAAGCAGCCATACTGATGACCACAGCAACCAGCTCCACGGCCTGATGCAG 20 + 43960481-43960496:43960497-43960530 20q13.12b "Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 3136930] [evidence NAS]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 1387645] [evidence TAS]" "The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [pmid 1387645] [evidence TAS]" Catalysis of the hydrolysis of a peptide bond not more than three residues from the C-terminus of a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4185] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond not more than three residues from the C-terminus of a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4185] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond not more than three residues from the C-terminus of a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4185] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Increases the activity of an enzyme [goid 8047] [pmid 3107551] [evidence TAS]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA] NGBE; PPCA; GSL; PPGB; GLB2 NGBE; PPCA; GSL; PPGB; GLB2 Oxidoreductase -> Oxidase Coenzyme and prosthetic group metabolism -> Porphyrin metabolism Homo sapiens RefSeq ILMN_9419 ILMN_9419 PPOX NM_000309.2 NM_000309.2 5498 45439340 NM_000309.2 PPOX NP_000300.1 ILMN_1673798 3120609 S 1512 AGCTAGGCAATTCCTGACTGCTCACAGGTTGCCCCTGACTCTGGCTGGAG 1 + 159407452-159407501 1q23.3a "Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The region between the inner and outer lipid bilayers of the mitochondrial envelope [goid 5758] [pmid 8771201] [evidence EXP]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Located in the mitochondrial inner membrane such that some covalently attached portion of the gene product, for example part of a peptide sequence or some other covalently attached moiety such as a GPI anchor, spans or is embedded in one or both leaflets of the membrane [goid 31304] [evidence ISS]" "The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors [goid 6783] [pmid 7713909] [evidence IDA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [pmid 7713909] [evidence IDA]" "Catalysis of the reaction: protoporphyrinogen-IX + O2 = protoporphyrin-IX + H2O2 [goid 4729] [pmid 7713909] [evidence IDA]; Catalysis of the reaction: protoporphyrinogen-IX + O2 = protoporphyrin-IX + H2O2 [goid 4729] [pmid 8771201] [evidence EXP]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [pmid 7713909] [evidence TAS]" MGC8485; VP; PPO; V290M VP; MGC8485; PPO; V290M Hydrolase -> Esterase Protein metabolism and modification -> Protein modification -> Protein-lipid modification Homo sapiens RefSeq ILMN_18632 ILMN_18632 PPT1 NM_000310.2 NM_000310.2 5538 50726955 NM_000310.2 PPT1 NP_000301.1 ILMN_1669273 7200041 S 2140 TTGGAGAAATGATGAGCTACGCCTTGATGAAAGAACCGTGTTGGTGCTGC 1 - 40311109-40311158 1p34.2d "Homo sapiens palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile) (PPT1), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8895569] [evidence IDA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence ISS]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence ISS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10992246] [evidence IDA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence ISS]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 11020216] [evidence IDA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 8895569] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 7637805] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence ISS]; Secretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane [goid 8021] [pmid 12483688] [evidence IDA]; The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter [goid 30424] [pmid 12483688] [evidence IDA]; A branching protoplasmic process of a neuron that receive and integrate signals coming from axons of other neurons, and convey the resulting signal to the body of the cell [goid 30425] [evidence IEA]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [evidence IEA]; Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions [goid 45121] [pmid 15929065] [evidence IDA]" "The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]; The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]; The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]; The removal of palymitoyl groups from a lipoprotein [goid 2084] [evidence ISS]; The removal of palymitoyl groups from a lipoprotein [goid 2084] [pmid 10737604] [evidence IDA]; The removal of palymitoyl groups from a lipoprotein [goid 2084] [pmid 10658183] [evidence IDA]; The cleavage of DNA during apoptosis, which usually occurs in two stages: cleavage into fragments of about 50 kbp followed by cleavage between nucleosomes to yield 200 bp fragments [goid 6309] [pmid 15929065] [evidence IDA]; Any process that reduces the pH of the lysosomal lumen, measured by the concentration of the hydrogen ion [goid 7042] [pmid 11722572] [evidence IMP]; The regulated release of neurotransmitter into the synaptic cleft. A neurotransmitter is any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. Among the many substances that have the properties of a neurotransmitter are acetylcholine, noradrenaline, adrenaline, dopamine, glycine, gamma-aminobutyrate, glutamic acid, substance P, enkephalins, endorphins and serotonin [goid 7269] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 7637805] [evidence IMP]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [pmid 10992246] [evidence IEP]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [pmid 7637805] [evidence IMP]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [evidence IEA]; The specific actions or reactions of an organism relating to grooming, cleaning and brushing to remove dirt and parasites [goid 7625] [evidence IEA]; Learning by associating a stimulus (the cause) with a particular outcome (the effect) [goid 8306] [evidence IEA]; Locomotory behavior in a fully developed and mature organism [goid 8344] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [pmid 10737604] [evidence IMP]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [pmid 8816748] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid) [goid 30149] [pmid 16542649] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of cell growth [goid 30308] [pmid 10737604] [evidence IMP]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of membrane rafts, small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes [goid 31579] [pmid 15929065] [evidence IMP]; Any process that modulates the activity of the enzyme phospholipase A2 [goid 32429] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis in neurons [goid 43524] [pmid 10737604] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis in neurons [goid 43524] [pmid 11020216] [evidence IMP]; The chemical reactions and pathways resulting in the breakdown of a protein by individual cells [goid 44257] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport [goid 48260] [pmid 16542649] [evidence IMP]; Any process that activates, maintains or increases the rate of pinocytosis. Pinocytosis is the process whereby cells take in liquid material from their external environment; literally 'cell drinking'. Liquid is enclosed in vesicles, formed by invagination of the plasma membrane. These vesicles then move into the cell and pass their contents to endosomes [goid 48549] [pmid 16542649] [evidence IMP]; The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell [goid 48666] [pmid 11136716] [evidence TAS]; Any process that modulates the physical form or the activity of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell) [goid 50803] [pmid 11136716] [evidence NAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]; The directed movement of a cofactor into, out of, within or between cells. A cofactor is a substance that is required for the activity of an enzyme or other protein [goid 51181] [pmid 16542649] [evidence IMP]; The chemical reactions and pathways involving a cofactor, a substance that is required for the activity of an enzyme or other protein. Cofactors may be inorganic, such as the metal atoms zinc, iron, and copper in certain forms, or organic, in which case they are referred to as coenzymes. Cofactors may either be bound tightly to active sites or bind loosely with the substrate [goid 51186] [pmid 16542649] [evidence IMP]" "Catalysis of the reaction: palmitoyl-protein + H2O = palmitate + protein [goid 8474] [evidence IEA]; Catalysis of the reaction: palmitoyl-protein + H2O = palmitate + protein [goid 8474] [evidence IEA]; Catalysis of the reaction: palmitoyl-protein + H2O = palmitate + protein [goid 8474] [evidence IEA]; Catalysis of the reaction: palmitoyl-protein + H2O = palmitate + protein [goid 8474] [pmid 7637805] [evidence IMP]; Catalysis of the reaction: palmitoyl-protein + H2O = palmitate + protein [goid 8474] [evidence ISS]; Catalysis of the reaction: palmitoyl-protein + H2O = palmitate + protein [goid 8474] [pmid 10737604] [evidence IDA]; Catalysis of the reaction: palmitoyl-protein + H2O = palmitate + protein [goid 8474] [pmid 10658183] [evidence IDA]; Catalysis of the reaction: palmitoyl-CoA + H2O = CoA + palmitate [goid 16290] [pmid 10658183] [evidence IDA]; Catalysis of the reaction: palmitoyl-CoA + H2O = CoA + palmitate [goid 16290] [evidence ISS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" CLN1; INCL; PPT CLN1; INCL; PPT Protease -> Serine protease;Defense/immunity protein;Select calcium binding protein -> Calmodulin related protein;Select calcium binding protein -> Annexin Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_20582 ILMN_20582 PROC NM_000312.1 NM_000312.1 5624 4506114 NM_000312.1 PROC NP_000303.1 ILMN_1687721 4810039 S 1442 ATCAGAGACAAGGAAGCCCCCCAGAAGAGCTGGGCACCTTAGCGACCCTC 2 + 127902975-127902992:127902993-127903024 2q14.3d "Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2538457] [evidence EXP]" "The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 12052963] [evidence NAS]; Any process that stops, prevents or reduces the frequency, rate or extent of blood coagulation [goid 30195] [pmid 15005336] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [pmid 12563316] [evidence IMP]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]" "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 15005336] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15248212] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]" protein C; PROC1 protein C; PROC1 Miscellaneous function -> Other miscellaneous function protein Miscellaneous Homo sapiens RefSeq ILMN_3398 ILMN_3398 PROS1 NM_000313.1 NM_000313.1 5627 4506116 NM_000313.1 PROS1 NP_000304.1 ILMN_1671928 6420008 S 3133 GGAGGTAAGATTGCCACGTGCCTGCTGGTACTGTGATGCATTTCAAGTGG 3 - 95074739-95074788 3q11.2a "Homo sapiens protein S (alpha) (PROS1), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]" "The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 9657428] [evidence TAS]" "Stops, prevents or reduces the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides [goid 4866] [pmid 8146182] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]" PROS; protein Sa; Protein S; PSA; PS23; PS25; PS24; PS 26; PS22; PS21 PROS; protein Sa; Protein S; PSA; PS23; PS25; PS24; PS 26; PS22; PS21 Phosphatase -> Protein phosphatase;Phosphatase -> Other phosphatase Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism;Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction;Cell adhesion;Immunity and defense;Apoptosis -> Induction of apoptosis;Cell cycle -> Cell cycle control;Cell proliferation and differentiation;Oncogenesis -> Tumor suppressor Homo sapiens RefSeq ILMN_25851 ILMN_181706 PTEN NM_000314.4 NM_000314.4 5728 110224474 NM_000314.4 PTEN NP_000305.3 ILMN_1701134 6840072 S 2850 TAATCTGGACATTCGAGGAATTGGCCGCTGTCACTGCTTGTTGTTTGCGC 10 + 89715815-89715864 10q23.31a "Homo sapiens phosphatase and tensin homolog (PTEN), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9367992] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9187108] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9593664] [evidence EXP]" "Any process that modulates the frequency, rate or extent of CDK activity [goid 79] [pmid 10918569] [evidence TAS]; Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels [goid 1525] [evidence IEA]; The process of removing one or more phosphoric residues from a protein [goid 6470] [pmid 9367992] [evidence TAS]; The process of removing one or more phosphoric residues from a protein [goid 6470] [pmid 9256433] [evidence IDA]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [evidence ISS]; The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord [goid 7417] [evidence ISS]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 10468583] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of cell migration [goid 30336] [pmid 9616126] [evidence IMP]; Any process that affects the structure and integrity of a protein by altering the likelihood of its degradation or aggregation [goid 31647] [pmid 10866658] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [evidence IEA]; The orderly movement of endothelial cells into the extracellular matrix to form an endothelium [goid 43542] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; The process of removing a phosphate group from any mono- or polyphosphorylated inositol [goid 46855] [pmid 9593664] [evidence IDA]; The process of removing one or more phosphate groups from a phosphoinositide, a class of substances comprising phosphatidylinositol and its derivatives [goid 46856] [pmid 9811831] [evidence IDA]; The process of removing one or more phosphate groups from a phosphoinositide, a class of substances comprising phosphatidylinositol and its derivatives [goid 46856] [pmid 9593664] [evidence IDA]; The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure [goid 48738] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions [goid 51895] [pmid 9616126] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of the protein kinase B signaling cascade, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B [goid 51898] [pmid 10760291] [evidence IMP]" "Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate [goid 4438] [pmid 9811831] [evidence IDA]; Catalysis of the reaction: protein serine/threonine phosphate + H2O = protein serine/threonine + phosphate [goid 4722] [pmid 9256433] [evidence IDA]; Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [pmid 9256433] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17274640] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15951562] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17218262] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 18064632] [evidence IPI]; Catalysis of the reaction: protein serine/threonine/tyrosine phosphate + H2O = protein serine/threonine/tyrosine + phosphate [goid 8138] [evidence IEA]; Interacting selectively with a lipid [goid 8289] [evidence IEA]; Catalysis of the reaction: phosphatidylinositol-3,4,5-trisphosphate + H2O = phosphatidyl inositol-4,5-bisphosphate + phosphate [goid 16314] [pmid 9811831] [evidence IDA]; Catalysis of the reaction: phosphatidylinositol-3,4,5-trisphosphate + H2O = phosphatidyl inositol-4,5-bisphosphate + phosphate [goid 16314] [pmid 9593664] [evidence IDA]; Catalysis of the reaction: phosphatidylinositol-3,4,5-trisphosphate + H2O = phosphatidyl inositol-4,5-bisphosphate + phosphate [goid 16314] [pmid 9593664] [evidence EXP]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with a PDZ domain of a protein, a domain found in diverse signaling proteins [goid 30165] [pmid 10646847] [evidence IPI]; Interacting selectively with a PDZ domain of a protein, a domain found in diverse signaling proteins [goid 30165] [pmid 10760291] [evidence IPI]; Interacting selectively with a PDZ domain of a protein, a domain found in diverse signaling proteins [goid 30165] [pmid 10646847] [evidence IPI]; Catalysis of the reaction: inositol-1,3,4,5-tetrakisphosphate + H2O = inositol-1,4,5-trisphosphate + phosphate [goid 51717] [pmid 9593664] [evidence IDA]; Catalysis of the reaction: phosphatidylinositol-3,4-bisphosphate + H2O = phosphatidyl inositol-4-phosphate + phosphate [goid 51800] [pmid 9811831] [evidence IDA]" MMAC1; MHAM; TEP1; BZS; PTEN1; MGC11227 MMAC1; MHAM; TEP1; BZS; PTEN1; MGC11227 Signaling molecule -> Peptide hormone Developmental processes -> Mesoderm development -> Skeletal development Homo sapiens RefSeq ILMN_182945 ILMN_182945 PTH NM_000315.2 NM_000315.2 5741 39995098 NM_000315.2 PTH NP_000306.1 ILMN_2202048 6960152 S 384 TGGTTGAGAGCCATGAAAAAAGTCTTGGAGAGGCAGACAAAGCTGATGTG 11 - 13470557-13470606 11p15.2c "Homo sapiens parathyroid hormone (PTH), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS] "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 10913913] [evidence TAS]; The regulation of the levels, transport, and metabolism of calcium ions within a cell or between a cell and its external environment [goid 6874] [evidence NAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 7797535] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 7721880] [evidence TAS]; Any process induced by hormones that directly activates any of the steps required for cell death by apoptosis [goid 8628] [pmid 10913913] [evidence TAS]; The process by which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products [goid 45453] [pmid 15080150] [evidence NAS]; The chemical reactions and pathways involving the nucleotide cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) [goid 46058] [pmid 9927325] [evidence TAS]" "The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [pmid 10499494] [evidence TAS]" Receptor -> G-protein coupled receptor Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Homeostasis Homo sapiens RefSeq ILMN_19894 ILMN_19894 PTHR1 NM_000316.2 NM_000316.2 5745 39995096 NM_000316.2 PTHR1 NP_000307.1 ILMN_1795166 6330593 S 1990 GCGCTGGGGGCTGGACCTGCTGACATAGTGGATGGACAGATGGACCAAAA 3 + 46920155-46920204 3p21.31h "Homo sapiens parathyroid hormone receptor 1 (PTHR1), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10709993] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10709993] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9745456] [evidence TAS]" "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 9745456] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by modulation of a nucleotide cyclase activity and a subsequent change in the concentration of a cyclic nucleotide [goid 7187] [pmid 9927325] [evidence TAS]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; A receptor that binds an extracellular ligand and transmits the signal to a heterotrimeric G-protein complex. These receptors are characteristically seven-transmembrane receptors and are made up of hetero- or homodimers [goid 4930] [evidence IEA]; Combining with parathyroid hormone to initiate a change in cell activity [goid 4991] [pmid 9927325] [evidence TAS] MGC138426; MGC138452; PTHR MGC138426; MGC138452; PTHR Synthase and synthetase -> Synthase Coenzyme and prosthetic group metabolism -> Pterin metabolism Homo sapiens RefSeq ILMN_22962 ILMN_22962 PTS NM_000317.1 NM_000317.1 5805 4506330 NM_000317.1 PTS NP_000308.1 ILMN_2162328 4050437 S 581 AAGAGGTCAACACGTGATTGTTGTACGTACACATTGTGCTCTGGAGTGCC 11 + 111609563-111609612 11q23.1c "Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11256614] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 11256614] [evidence IDA]" "The chemical reactions and pathways involving amino acids, organic acids containing one or more amino substituents [goid 6520] [pmid 3308682] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of phenylalanine, 2-amino-3-phenylpropanoic acid [goid 6559] [evidence IEA]; The chemical reactions and pathways resulting in the formation of tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine [goid 6729] [pmid 3308682] [evidence TAS]; The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord [goid 7417] [pmid 3308682] [evidence TAS]" "Catalysis of the reaction: 6-[(1S,2R)-1,2-dihydroxy-3-triphosphooxypropyl]-7,8-dihydropterin = 6-pyruvoyl-5,6,7,8-tetrahydropterin + triphosphate [goid 3874] [pmid 3308682] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 16169070] [evidence IPI]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" PTPS PTPS Miscellaneous function -> Other miscellaneous function protein Protein metabolism and modification -> Protein complex assembly Homo sapiens RefSeq ILMN_30287 ILMN_30287 PXMP3 NM_000318.2 NM_000318.2 5828 121114288 NM_000318.2 PXMP3 NP_000309.1 ILMN_1743299 1090288 S 1185 GAATGCGCTCTATGTGGAGAGTGGCCCACCATGCCTCACACCATAGGATG 8 - 78058193-78058242 8q21.11d "Homo sapiens peroxisomal membrane protein 3, 35kDa (PXMP3), transcript variant 1, mRNA." "A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [evidence IEA]; The lipid bilayer surrounding a peroxisome [goid 5778] [evidence IEA]; Penetrating at least one phospholipid bilayer of a peroxisomal membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5779] [pmid 12751901] [evidence IMP]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The characteristic movement of immature neurons from germinal zones to specific positions where they will reside as they mature [goid 1764] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules [goid 7031] [pmid 1546315] [evidence IMP]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [evidence IEA]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10837480] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA] PAF-1; RNF72; PAF1; PMP35; PEX2; PMP3 PAF-1; RNF72; PAF1; PMP35; PEX2; PMP3 Receptor -> Other receptor;Membrane traffic protein -> Membrane traffic regulatory protein Intracellular protein traffic -> Peroxisome transport;Protein targeting and localization -> Protein targeting;Transport Homo sapiens RefSeq ILMN_29393 ILMN_29393 PEX5 NM_000319.3 NM_000319.3 5830 37059745 NM_000319.3 PEX5 NP_000310.2 ILMN_1660232 6650189 S 2986 GGGGAGATACACTAACCCCCAGAAATGACTGCTAAGCCTCTTGCCTTGTC 12 + 7255160-7255209 12p13.31c "Homo sapiens peroxisomal biogenesis factor 5 (PEX5), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 7719337] [evidence IDA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [evidence IEA]; The lipid bilayer surrounding a peroxisome [goid 5778] [evidence IEA]; The material contained within the membrane of a peroxisome; in many cells the matrix contains a crystalloid core largely composed of urate oxidase [goid 5782] [pmid 11336669] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11336669] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 7719337] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The chemical reactions and pathways involving fatty acids with a chain length of C18 or greater [goid 38] [evidence IEA]; The characteristic movement of immature neurons from germinal zones to specific positions where they will reside as they mature [goid 1764] [evidence IEA]; The process of directing proteins towards the peroxisome using signals contained within the protein [goid 6625] [pmid 9668159] [evidence IMP]; The metabolic oxidation of a long-chain fatty acid by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A [goid 6635] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of the mitochondrial membrane, the lipid bilayer surrounding a mitochondrion [goid 7006] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of the endoplasmic reticulum [goid 7029] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules [goid 7031] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The process by which proteins are moved across the peroxisomal membrane into the matrix. It is likely that the peroxisome targeting sequence receptor remains associated with cargo proteins during translocation [goid 16561] [pmid 7719337] [evidence IDA]; The process by which proteins are moved across the peroxisomal membrane into the matrix. It is likely that the peroxisome targeting sequence receptor remains associated with cargo proteins during translocation [goid 16561] [pmid 11336669] [evidence IDA]; The orderly movement of cells from one site to another in the cerebral cortex [goid 21795] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a neuron residing in the cerebral cortex [goid 21895] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of growth of an organism to reach its usual body size [goid 40018] [evidence IEA]; The chemical reactions and pathways involving lipids, as carried out by individual cells [goid 44255] [evidence IEA]; The process whose specific outcome is the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate [goid 48468] [evidence IEA]; Any process pertaining to the functions of the nervous and muscular systems of an organism [goid 50905] [evidence IEA]; The formation of a protein tetramer, a macromolecular structure consisting of four noncovalently associated identical or nonidentical subunits [goid 51262] [pmid 12456682] [evidence IDA]" "Interacting selectively with a type 1 peroxisome targeting signal, a tripeptide with the consensus sequence (S/A/C)-(K/R/H)-L [goid 5052] [pmid 12456682] [evidence IDA]; Interacting selectively with a type 1 peroxisome targeting signal, a tripeptide with the consensus sequence (S/A/C)-(K/R/H)-L [goid 5052] [pmid 9668159] [evidence IMP]; Interacting selectively with a type 1 peroxisome targeting signal, a tripeptide with the consensus sequence (S/A/C)-(K/R/H)-L [goid 5052] [pmid 7719337] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10837480] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9653144] [evidence IPI]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 10562279] [evidence IPI]" PTS1R; PXR1 PTS1R; PXR1 Oxidoreductase -> Dehydrogenase;Oxidoreductase -> Reductase Amino acid metabolism -> Amino acid catabolism;Coenzyme and prosthetic group metabolism -> Pterin metabolism Homo sapiens RefSeq ILMN_26096 ILMN_26096 QDPR NM_000320.1 NM_000320.1 5860 4506358 NM_000320.1 QDPR NP_000311.1 ILMN_1672443 6900450 S 1085 GGTGTCATGTTGGATCGCTTTGTGACTGTTCATCTGTCCTTGACAGTGGC 4 - 17097498-17097547 4p15.32b "Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11256614] [evidence IDA]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving amino acids, organic acids containing one or more amino substituents [goid 6520] [pmid 3033643] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of phenylalanine, 2-amino-3-phenylpropanoic acid [goid 6559] [evidence IEA]; The chemical reactions and pathways resulting in the formation of tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine [goid 6729] [evidence IEA]; The chemical reactions and pathways involving dihydrobiopterin, a reduced pteridine derivative related to folic acid; it acts as an electron carrier in tyrosine biosynthesis and its quinoid form is produced by oxidation of tetrahydrobiopterin in several biological hydroxylation reactions [goid 51066] [pmid 3033643] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine [goid 4155] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine [goid 4155] [pmid 3033643] [evidence TAS]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [pmid 3033643] [evidence TAS]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]" PKU2; FLJ42391; DHPR FLJ42391; DHPR; PKU2 Transcription factor -> Other transcription factor;Nucleic acid binding Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes;Cell cycle -> Cell cycle control;Oncogenesis -> Tumor suppressor Homo sapiens RefSeq ILMN_4636 ILMN_4636 RB1 NM_000321.2 NM_000321.2 5925 108773786 NM_000321.2 RB1 NP_000312.2 ILMN_1696591 6280474 S 3249 TGGCCCTAGAGTGGGAGTCCTGATAACCCAGGCCTGTCTGACTACTTTGC 13 + 47952504-47952553 13q14.2b "Homo sapiens retinoblastoma 1 (RB1), mRNA." "The ordered and organized complex of DNA and protein that forms the chromosome [goid 785] [pmid 3657987] [evidence TAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 3657987] [evidence TAS]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9190208] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 14527418] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11931757] [evidence EXP]; Any complex, distinct from RNA polymerase, including one or more polypeptides capable of binding DNA at promoters or at cis-acting regulatory sequences, and regulating transcription [goid 5667] [evidence IEA]; The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart [goid 5819] [evidence IEA]; A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection [goid 16605] [pmid 9448006] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 3413073] [evidence NAS]" "A point in the eukaryotic cell cycle where progress through the cycle can be halted until conditions are suitable for the cell to proceed to the next stage [goid 75] [pmid 10825186] [evidence TAS]; Progression from G1 phase to S phase of the mitotic cell cycle [goid 82] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 122] [pmid 9491888] [evidence TAS]; Progression through M phase, the part of the cell cycle comprising nuclear division [goid 279] [pmid 7542657] [evidence NAS]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of protein kinase activity [goid 6469] [pmid 9858607] [evidence IPI]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; The alteration of DNA or protein in chromatin, which may result in changing the chromatin structure [goid 16568] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell growth [goid 30308] [pmid 7542657] [evidence TAS]; Any series of molecular signals generated as a consequence of an androgen binding to its receptor [goid 30521] [pmid 15572661] [evidence NAS]; The process by which a myeloid precursor cell acquires specializes features of an erythrocyte without a nucleus, as found in mammals [goid 43353] [evidence IEA]; Any process that modulates the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid [goid 43550] [pmid 16286473] [evidence IDA]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of macrophage differentiation [goid 45651] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle [goid 51146] [evidence IEA]; The process resulting in the physical partitioning and separation of a cell into daughter cells [goid 51301] [evidence IEA]; Progression through G1 phase, one of two 'gap' phases in the cell cycle; G1 is the interval between the completion of DNA segregation (usually by mitosis or meiosis) and the beginning of DNA synthesis [goid 51318] [pmid 7542657] [evidence TAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 3413073] [evidence NAS]" "The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 3657987] [evidence TAS]; The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 15572661] [evidence NAS]; Interacting selectively with a transcription factor, any protein required to initiate or regulate transcription [goid 8134] [evidence IEA]; Any transcription regulator activity that prevents or downregulates transcription [goid 16564] [evidence IEA]; Interacting selectively with a kinase, any enzyme that catalyzes the transfer of a phosphate group [goid 19900] [pmid 16286473] [evidence IDA]; Interacting selectively with an androgen receptor [goid 50681] [pmid 15572661] [evidence NAS]; Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [pmid 3413073] [evidence ND ]" RB; OSRC RB; OSRC Receptor;Cell adhesion molecule Cell adhesion;Sensory perception -> Vision Homo sapiens RefSeq ILMN_16113 ILMN_16113 PRPH2 NM_000322.3 NM_000322.3 5961 118572595 NM_000322.3 PRPH2 NP_000313.2 ILMN_1807610 4590669 S 2707 TCCCCCAAGCAGAAGACCAGATCCAAGATGTTTGGACACCCTGTCAGACG 6 - 42772532-42772581 6p21.1e "Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 1749427] [evidence TAS]" "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 1749427] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] TSPAN22; PRPH; AVMD; AOFMD; rd2; RP7; RDS TSPAN22; PRPH; AVMD; AOFMD; rd2; RP7; RDS Transporter -> Cation transporter Transport Homo sapiens RefSeq ILMN_11284 ILMN_11284 RHAG NM_000324.1 NM_000324.1 6005 4506522 NM_000324.1 RHAG NP_000315.1 ILMN_1811410 5050333 S 1296 GCTGGAACCTGAAGTCTAAACACCATTCCTGCTCTCCAGCTTCCTTTCCC 6 - 49681396-49681445 6p12.3b "Homo sapiens Rh-associated glycoprotein (RHAG), mRNA." The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9479501] [evidence NAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 1417776] [evidence TAS] "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The regulation of the levels, transport, and metabolism of ions within a cell or between a cell and its external environment [goid 6873] [pmid 15856280] [evidence IDA]; The directed movement of ammonium into, out of, within or between cells. Ammonium is the cation NH4+ which is formed from N2 by root-nodule bacteria in leguminous plants and is an excretory product in ammonotelic animals [goid 15696] [pmid 15856280] [evidence IDA]; The directed movement of ammonium into, out of, within or between cells. Ammonium is the cation NH4+ which is formed from N2 by root-nodule bacteria in leguminous plants and is an excretory product in ammonotelic animals [goid 15696] [pmid 12846905] [evidence NAS]" "Catalysis of the transfer of ammonium from one side of a membrane to the other. Ammonium is the cation NH4+ which is formed from N2 by root-nodule bacteria in leguminous plants and is an excretory product in ammonotelic animals [goid 8519] [pmid 15856280] [evidence IDA]; Catalysis of the transfer of ammonium from one side of a membrane to the other. Ammonium is the cation NH4+ which is formed from N2 by root-nodule bacteria in leguminous plants and is an excretory product in ammonotelic animals [goid 8519] [pmid 12846905] [evidence NAS]; Interacting selectively with ankyrin, a 200 kDa cytoskeletal protein that attaches other cytoskeletal proteins to integral membrane proteins [goid 30506] [pmid 12719424] [evidence IPI]; Interacting selectizely with phosphopantetheine, the vitamin pantetheine 4'-(dihydrogen phosphate) [goid 31177] [evidence IEA]" Rh50 GP; RH2; RH50A; CD241; Rh50 Rh50 GP; RH2; RH50A; CD241; Rh50 Transcription factor -> Homeobox transcription factor;Nucleic acid binding -> Other DNA-binding protein Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation Homo sapiens RefSeq ILMN_13997 ILMN_13997 PITX2 NM_000325.5 NM_000325.5 5308 152963645 NM_000325.5 PITX2 NP_000316.2 ILMN_1742218 2450307 I 694 TGTCGGCCGTCTCCTCATCTTCCTGTCACCATCCCCAGCCGTTAGCCATG 4 - 111762960-111763009 4q25d "Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 3, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; Any complex, distinct from RNA polymerase, including one or more polypeptides capable of binding DNA at promoters or at cis-acting regulatory sequences, and regulating transcription [goid 5667] [pmid 15385555] [evidence IDA]" "Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 15385555] [evidence IDA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry [goid 7368] [pmid 9708732] [evidence TAS]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [pmid 9618168] [evidence TAS]" "The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 15385555] [evidence IDA]; Interacting selectively with a transcription factor, any protein required to initiate or regulate transcription [goid 8134] [pmid 16449236] [evidence IPI]; Interacting selectively with a transcription factor, any protein required to initiate or regulate transcription [goid 8134] [pmid 15385555] [evidence IPI]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]" MGC111022; IGDS; RS; IDG2; RIEG; PTX2; IGDS2; Brx1; ARP1; RIEG1; IHG2; IRID2; RGS; Otlx2; MGC20144 MGC111022; IGDS; RS; IDG2; RIEG; PTX2; IGDS2; Brx1; ARP1; RIEG1; IHG2; IRID2; RGS; Otlx2; MGC20144 Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_9303 ILMN_163257 RLBP1 NM_000326.3 NM_000326.3 6017 38201694 NM_000326.3 RLBP1 NP_000317.1 ILMN_1751980 5910437 S 1414 GCTGCTTGAGATGACTGTGGTCCCCCCTTAGACTCCCTAAGCCCGAGTGA 15 - 87554390-87554439 15q26.1a "Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [pmid 9326942] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene [goid 6776] [pmid 9326942] [evidence TAS]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 9326942] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [pmid 9326942] [evidence TAS]; Interacting selectively with 11-cis retinal, an isomer of retinal that plays an important role in the visual process in most vertebrates. 11-cis retinal combines with opsin in the rods (scotopsin) to form rhodopsin or visual purple. Retinal is one of the three compounds that makes up vitamin A [goid 5502] [evidence IEA]; Interacting selectively with retinol, vitamin A1, 2,6,6-trimethyl-1-(9'-hydroxy-3',7'-dimethylnona-1',3',5',7'-tetraenyl)cyclohex-1-ene, one of the three components that makes up vitamin A. Retinol is an intermediate in the vision cycle and it also plays a role in growth and differentiation [goid 19841] [evidence IEA]" MGC3663; CRALBP MGC3663; CRALBP Receptor;Cell adhesion molecule Cell adhesion;Sensory perception -> Vision Homo sapiens RefSeq ILMN_28308 ILMN_28308 ROM1 NM_000327.2 NM_000327.2 6094 19743809 NM_000327.2 ROM1 NP_000318.1 ILMN_1723743 1470608 S 1223 GGACAAGTCTGAAAACCTCACAACTCCTTACCAAGGCTCCAGGTTGGGGG 11 + 62138923-62138972 11q12.3a "Homo sapiens retinal outer segment membrane protein 1 (ROM1), mRNA." "Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 1610568] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 1610568] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] ROSP1; TSPAN23; ROM ROSP1; TSPAN23; ROM Select regulatory molecule -> G-protein modulator -> Guanyl-nucleotide exchange factor Intracellular protein traffic;Sensory perception -> Vision Homo sapiens RefSeq ILMN_23082 ILMN_23082 RPGR NM_000328.2 NM_000328.2 6103 66932995 NM_000328.2 RPGR NP_000319.1 ILMN_2336803 2750386 A 1372 CTGCAGAGGACTCTATCAGCACGTATGCGGCGAAGAGAGAGGGAGAGGTC X - 38041641-38041649:38043153-38043193 Xp11.4e "Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant A, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence ISS]" "The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [pmid 9990021] [evidence TAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 96241570] [evidence IMP]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" "Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9990021] [evidence TAS]" COD1; CORDX1; XLRP3; RP15; CRD; orf15; PCDX; RP3 COD1; CORDX1; PCDX; XLRP3; RP15; CRD; orf15; RP3 Oxidoreductase -> Oxygenase Coenzyme and prosthetic group metabolism -> Vitamin metabolism -> Vitamin biosynthesis;Sensory perception -> Vision Homo sapiens RefSeq ILMN_14319 ILMN_14319 RPE65 NM_000329.2 NM_000329.2 6121 67188783 NM_000329.2 RPE65 NP_000320.1 ILMN_1686770 3840528 S 1595 CCCGGGCTGAAGTGGAGATTAACATCCCTGTCACCTTTCATGGACTGTTC 1 - 68668058-68668107 1p31.3a "Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]" "Any process that modulates the frequency, rate or extent of rhodopsin gene expression. This includes transcriptional, translational, or posttranslational regulation [goid 7468] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 9326941] [evidence TAS]; The chemical reactions and pathways involving retinal, a compound that plays an important role in the visual process in most vertebrates. In the retina, retinal combines with opsins to form visual pigments. Retinal is one of the forms of vitamin A [goid 42574] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9326941] [evidence TAS] mRPE65; rd12; LCA2; RP20; sRPE65 mRPE65; rd12; LCA2; RP20; sRPE65 Signaling molecule -> Other signaling molecule Sensory perception -> Vision;Developmental processes -> Other developmental process Homo sapiens RefSeq ILMN_20123 ILMN_20123 RS1 NM_000330.2 NM_000330.2 6247 56550120 NM_000330.2 RS1 NP_000321.1 ILMN_1737563 3520673 S 2708 CAACCCATCGGCCACCCCAAGCCCTCTGCAACCACGAATCGACTGTCTCT X - 18568003-18568052 Xp22.13b "Homo sapiens retinoschisis (X-linked, juvenile) 1 (RS1), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 10915776] [evidence TAS]" "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 9326935] [evidence TAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 9326935] [evidence TAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 9326935] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] RS; XLRS1 XLRS1; RS Transporter;Transfer/carrier protein -> Apolipoprotein;Defense/immunity protein Immunity and defense Homo sapiens RefSeq ILMN_28491 ILMN_28491 SAA1 NM_000331.3 NM_000331.3 6288 133930781 NM_000331.3 SAA1 NP_000322.2 ILMN_1701017 2600424 I 166 GGGGCATACAGCCATACCATTCTGAAGGTGTCTTATCTCCTCTGATCTAG 11 + 18244513-18244562 11p15.1d "Homo sapiens serum amyloid A1 (SAA1), transcript variant 1, mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 7516407] [evidence NAS] "Process involving non-antibody proteins whose concentrations in the plasma increase in response to infection or injury of homeothermic animals [goid 6953] [pmid 9815279] [evidence NAS]; Any process that increases the concentration of calcium ions in the cytosol [goid 7204] [pmid 7561109] [evidence NAS]; Any process that increases the concentration of calcium ions in the cytosol [goid 7204] [pmid 9892621] [evidence IDA]; A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug [goid 30168] [pmid 1697614] [evidence NAS]; The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding [goid 30593] [pmid 12557751] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of cell adhesion [goid 45785] [pmid 11830469] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of cell adhesion [goid 45785] [pmid 7561109] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of cell adhesion [goid 45785] [pmid 9252455] [evidence IDA]; The movement of a macrophage in response to an external stimulus [goid 48246] [pmid 7561109] [evidence IDA]; The directed movement of a lymphocyte in response to an external stimulus [goid 48247] [pmid 7636186] [evidence IDA]; Any process that modulates the frequency, rate or extent of the regulated release of a protein from a cell or group of cells [goid 50708] [pmid 9605178] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of the regulated release of interleukin-1 from a cell or group of cells [goid 50716] [pmid 12857601] [evidence NAS]; Any process that stops, prevents or reduces the frequency, rate or extent of the inflammatory response [goid 50728] [pmid 9823935] [evidence NAS]" "Interacting selectively with a G-protein-coupled receptor [goid 1664] [pmid 9892621] [evidence IDA]; Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]" MGC111216; SAA; PIG4; TP53I4 MGC111216; SAA; PIG4; TP53I4 Transporter;Transfer/carrier protein -> Apolipoprotein;Defense/immunity protein Immunity and defense Homo sapiens RefSeq ILMN_28364 ILMN_28491 SAA1 NM_000331.3 NM_000331.3 6288 133930781 NM_000331.3 SAA1 NP_000322.2 ILMN_1808732 130338 A 653 AAGCGGGGAGAGGGTACACAATGGGTATCTAATAAATACTTAAGAGGTGG 11 + 18248039-18248088 11p15.1d "Homo sapiens serum amyloid A1 (SAA1), transcript variant 1, mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 7516407] [evidence NAS] "Process involving non-antibody proteins whose concentrations in the plasma increase in response to infection or injury of homeothermic animals [goid 6953] [pmid 9815279] [evidence NAS]; Any process that increases the concentration of calcium ions in the cytosol [goid 7204] [pmid 7561109] [evidence NAS]; Any process that increases the concentration of calcium ions in the cytosol [goid 7204] [pmid 9892621] [evidence IDA]; A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug [goid 30168] [pmid 1697614] [evidence NAS]; The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding [goid 30593] [pmid 12557751] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of cell adhesion [goid 45785] [pmid 11830469] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of cell adhesion [goid 45785] [pmid 7561109] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of cell adhesion [goid 45785] [pmid 9252455] [evidence IDA]; The movement of a macrophage in response to an external stimulus [goid 48246] [pmid 7561109] [evidence IDA]; The directed movement of a lymphocyte in response to an external stimulus [goid 48247] [pmid 7636186] [evidence IDA]; Any process that modulates the frequency, rate or extent of the regulated release of a protein from a cell or group of cells [goid 50708] [pmid 9605178] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of the regulated release of interleukin-1 from a cell or group of cells [goid 50716] [pmid 12857601] [evidence NAS]; Any process that stops, prevents or reduces the frequency, rate or extent of the inflammatory response [goid 50728] [pmid 9823935] [evidence NAS]" "Interacting selectively with a G-protein-coupled receptor [goid 1664] [pmid 9892621] [evidence IDA]; Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]" MGC111216; SAA; PIG4; TP53I4 MGC111216; SAA; PIG4; TP53I4 Nucleic acid binding -> Nuclease Nucleoside, nucleotide and nucleic acid metabolism -> RNA catabolism Homo sapiens RefSeq ILMN_173593 ILMN_173593 ATXN1 NM_000332.2 NM_000332.2 6310 51479157 NM_000332.2 ATXN1 NP_000323.2 ILMN_2153332 5080154 S 10285 GACAGGAGAACTTTTTTCCATATGCGTGCATACTCTCTGTAATTCCAGTG 6 - 16407623-16407672 6p22.3f-p22.3e "Homo sapiens ataxin 1 (ATXN1), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 7647801] [evidence IDA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12757932] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 7647801] [evidence IDA]; The dense fibrillar network lying on the inner side of the nuclear membrane [goid 16363] [pmid 17557114] [evidence IDA]; A complex of NXF1 and NXF2 required for the export of the majority of mRNAs from the nucleus to the cytoplasm; localized in the nucleoplasm and at both the nucleoplasmic and cytoplasmic faces of the nuclear pore complex; shuttles between the nucleus and the cytoplasm [goid 42272] [pmid 15615787] [evidence IDA]; Intranuclear foci at which aggregated proteins have been sequestered [goid 42405] [pmid 15615787] [evidence IDA]" "Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules [goid 6396] [pmid 15615787] [evidence NAS]; The specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death [goid 8219] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription [goid 16481] [pmid 15016912] [evidence IDA]; The directed movement of substances out of the nucleus [goid 51168] [pmid 15615787] [evidence IDA]" "Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 15016912] [evidence IPI]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 12757932] [evidence IPI]; Interacting selectively with a sequence of uracil residues in an RNA molecule [goid 8266] [pmid 11136710] [evidence IDA]; Any transcription regulator activity that prevents or downregulates transcription [goid 16564] [pmid 15016912] [evidence IDA]; Interacting selectively with a sequence of guanine residues in an RNA molecule [goid 34046] [pmid 11136710] [evidence IDA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 16713569] [evidence IPI]; Interacting selectively with a domain within the same polypeptide [goid 43621] [pmid 9097953] [evidence IDA]" SCA1; D6S504E; ATX1 SCA1; D6S504E; ATX1 Molecular function unclassified Neuronal activities Homo sapiens RefSeq ILMN_29817 ILMN_29817 ATXN7 NM_000333.2 NM_000333.2 6314 51479163 NM_000333.2 ATXN7 NP_000324.1 ILMN_1688602 4280576 S 4023 GAGAAAGGAAGGCCAAATTGGGTCGGGGGAGGGTGGGAGTGAGGAAGTTA 3 + 63960974-63961023 3p14.1d "Homo sapiens ataxin 7 (ATXN7), mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10441328] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The dense fibrillar network lying on the inner side of the nuclear membrane [goid 16363] [evidence IEA]" "The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of the nucleus [goid 6997] [pmid 10441328] [evidence TAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 9288099] [evidence TAS]; The specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death [goid 8219] [evidence IEA]" "Interacting selectively with chromatin, the network of fibers of DNA and protein that make up the chromosomes of the eukaryotic nucleus during interphase [goid 3682] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11371513] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]" OPCA3; SCA7; ADCAII OPCA3; SCA7; ADCAII Ion channel -> Voltage-gated ion channel -> Voltage-gated sodium channel Transport -> Ion transport -> Cation transport;Neuronal activities -> Action potential propagation Homo sapiens RefSeq ILMN_5200 ILMN_171686 SCN4A NM_000334.4 NM_000334.4 6329 93587341 NM_000334.4 SCN4A NP_000325.4 ILMN_1731914 3390435 S 7613 ATTCTCCTCGGACTGTGTGCAGGTTGCAGAGGAAGAGTAGATGAGCCGGG 17 - 59369788-59369837 17q23.3b "Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA." "A sodium channel in a cell membrane whose opening is governed by the membrane potential [goid 1518] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [pmid 10218481] [evidence TAS]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 1338909] [evidence TAS]" Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of the transmembrane transfer of a sodium ion by a voltage-gated channel [goid 5248] [pmid 10218481] [evidence TAS]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA] Nav1.4; SkM1; Na(V)1.4; HYKPP; HYPP; NAC1A Nav1.4; SkM1; HYKPP; HYPP; NAC1A; Na(V)1.4 Ion channel -> Other ion channel Transport -> Ion transport -> Cation transport;Sensory perception -> Chemosensory perception -> Taste;Blood circulation and gas exchange -> Regulation of vasoconstriction, dilation Homo sapiens RefSeq ILMN_28619 ILMN_28619 SCNN1B NM_000336.2 NM_000336.2 6338 124301195 NM_000336.2 SCNN1B NP_000327.2 ILMN_1740917 1660079 S 2318 TCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTG 16 + 23299842-23299891 16p12.1c "Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA." "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The region of the plasma membrane located at the apical end of the cell [goid 16324] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [pmid 8521520] [evidence TAS]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 9118951] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]; The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells [goid 50909] [evidence IEA]" Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11244092] [evidence IPI]; [goid 15280] [evidence IEA]; [goid 15280] [pmid 9118951] [evidence TAS]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA] ENaCb; ENaCbeta; SCNEB ENaCb; ENaCbeta; SCNEB Cytoskeletal protein Biological process unclassified Homo sapiens RefSeq ILMN_9850 ILMN_9850 SGCD NM_000337.4 NM_000337.4 6444 46249398 NM_000337.4 SGCD NP_000328.2 ILMN_1763457 70088 I 7732 CCTAGAAAATGGCAGAGCTGGAATGTAGGTTTAACTCCTGACCACTATGC 5 + 156125319-156125368 5q33.3a "Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8842738] [evidence TAS]; A protein complex formed of four sarcoglycans plus sarcospan; there are six known sarcoglycans: alpha-, beta-, gamma-, delta-, epsilon- and zeta-sarcoglycan; all are N-glycosylated single-pass transmembrane proteins. The sarcoglycan-sarcospan complex is a subcomplex of the dystrophin glycoprotein complex, and is fixed to the dystrophin axis by a lateral association with the dystroglycan complex [goid 16012] [pmid 8841194] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 8842738] [evidence TAS]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 8841194] [evidence TAS]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] SG-delta; SGCDP; CMD1L; MGC22567; 35DAG; SGD; DAGD SG-delta; SGCDP; CMD1L; MGC22567; 35DAG; SGD; DAGD Transporter -> Cation transporter;Transporter -> Other transporter Transport -> Ion transport -> Cation transport Homo sapiens RefSeq ILMN_1775 ILMN_1775 SLC12A1 NM_000338.2 NM_000338.2 6557 134254458 NM_000338.2 SLC12A1 NP_000329.2 ILMN_1688162 2900154 S 3280 ACAGATGCAGAACTGGAAGCAGTCAAGGAAAAGAGTTACCGCCAAGTTCG 15 + 46378732-46378764:46380804-46380820 15q21.1c-q21.1d "Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 7929272] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 7929272] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + K+(out) + Cl-(out) = Na+(in) + K+(in) + Cl-(in) [goid 8511] [pmid 8640224] [evidence TAS]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA]" MGC48843; BSC1; NKCC2 MGC48843; BSC1; NKCC2 Transporter -> Cation transporter;Transporter -> Other transporter Transport -> Ion transport -> Cation transport Homo sapiens RefSeq ILMN_27803 ILMN_27803 SLC12A3 NM_000339.1 NM_000339.1 6559 4506976 NM_000339.1 SLC12A3 NP_000330.1 ILMN_1679011 1070243 S 2877 GAACAGAGTCAAGTCCCTTCGGCAGGTGAGGCTGAATGAGATTGTGCTGG 16 + 55493909-55493921:55495808-55495844 16q13b "Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 8670281] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8670281] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: cation(out) + Cl-(out) = cation(in) + Cl-(in) [goid 15377] [evidence IEA]; Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + Cl-(out) = Na+(in) + Cl-(in) [goid 15378] [pmid 8528245] [evidence TAS]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA]" NCCT; TSC NCCT; TSC Transporter -> Carbohydrate transporter Carbohydrate metabolism -> Carbohydrate transport;Transport -> Carbohydrate transport Homo sapiens RefSeq ILMN_28285 ILMN_163773 SLC2A2 NM_000340.1 NM_000340.1 6514 4557850 NM_000340.1 SLC2A2 NP_000331.1 ILMN_1755720 6590376 S 3220 AGCAGGGTGCTAACGTATCTCTAGGCTGTTTTCTCCACCAACTGGAGCAC 3 - 172197000-172197049 3q26.2c "Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 8027028] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8027028] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [pmid 8027028] [evidence TAS]; The directed movement of carbohydrate into, out of, within or between cells. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y [goid 8643] [evidence IEA]; The directed movement of the hexose monosaccharide glucose into, out of, within or between cells [goid 15758] [pmid 8027028] [evidence TAS]; The process whereby a solute is transported from one side of a membrane to the other. This process includes the actual movement of the solute, and any regulation and preparatory steps, such as reduction of the solute [goid 55085] [evidence IEA]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: sugar(out) + H+(out) = sugar(in) + H+(in) [goid 5351] [evidence IEA]; Catalysis of the transfer of the hexose monosaccharide glucose from one side of the membrane to the other [goid 5355] [pmid 8027028] [evidence TAS]; Catalysis of the transfer of a specific substance or group of related substances from one side of a membrane to the other [goid 22891] [evidence IEA]" GLUT2 GLUT2 Hydrolase -> Amylase Carbohydrate metabolism -> Glycogen metabolism Homo sapiens RefSeq ILMN_20085 ILMN_20085 SLC3A1 NM_000341.2 NM_000341.2 6519 23308570 NM_000341.2 SLC3A1 NP_000332.1 ILMN_1754247 4480300 S 1413 GTGGACCAGACAGTTCACGGCTGACTTCGCGTTTGGGGAATCAGTATGTC 2 + 44393233-44393282 2p21d "Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 8054986] [evidence TAS]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8054986] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving amino acids, organic acids containing one or more amino substituents [goid 6520] [pmid 8054986] [evidence TAS]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of basic amino acids, amino acids with a pH above 7, into, out of, within or between cells [goid 15802] [pmid 8054986] [evidence TAS]; The directed movement of L-cystine (also known as dicysteine) into, out of, within or between cells [goid 15811] [pmid 8054986] [evidence TAS]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the transfer of basic amino acids from one side of a membrane to the other. Acidic amino acids have a pH above 7 [goid 15174] [pmid 8054986] [evidence TAS]; Catalysis of the transfer of L-cystine from one side of a membrane to the other [goid 15184] [pmid 8054986] [evidence TAS]; Interacting selectively with cations, charged atoms or groups of atoms with a net positive charge [goid 43169] [evidence IEA]" RBAT; NBAT; CSNU1; ATR1; D2H; FLJ34681 NBAT; CSNU1; ATR1; D2H; RBAT; FLJ34681 Transporter -> Other transporter Transport -> Ion transport;Homeostasis -> Other homeostasis activities;Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_10380 ILMN_182955 SLC4A1 NM_000342.2 NM_000342.2 6521 142360743 NM_000342.2 SLC4A1 NP_000333.1 ILMN_1772809 2120152 S 3450 CCAGGCCTTCTGATTTCAAGGTCCGAGCTCTGTCCTCTGTCAGTCATGCG 17 - 39682702-39682751 17q21.31c "Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA." "Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 4027230] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The portion of the cytoskeleton that lies just beneath the plasma membrane [goid 30863] [pmid 16669616] [evidence IDA]" "The directed movement of anions, atoms or small molecules with a net negative charge, into, out of, within or between cells [goid 6820] [pmid 4027230] [evidence TAS]; The regulation of the levels, transport, and metabolism of ions within a cell or between a cell and its external environment [goid 6873] [pmid 8841202] [evidence TAS]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; [goid 5452] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16669616] [evidence IPI]; Catalysis of the transfer of a negatively charged ion from one side of a membrane to the other [goid 8509] [pmid 4027230] [evidence TAS]" MGC126619; MGC116750; MGC126623; BND3; MGC116753; DI; CD233; WD; WD1; EMPB3; AE1; SW; EPB3; RTA1A; FR; WR MGC126619; MGC116750; MGC126623; BND3; MGC116753; DI; CD233; WD; WD1; EMPB3; AE1; SW; EPB3; RTA1A; FR; WR Transporter -> Cation transporter;Transporter -> Carbohydrate transporter Carbohydrate metabolism;Transport;Other metabolism Homo sapiens RefSeq ILMN_24451 ILMN_24451 SLC5A1 NM_000343.1 NM_000343.1 6523 4507030 NM_000343.1 SLC5A1 NP_000334.1 ILMN_1681526 1030286 S 2035 GCTGGACTCTTACTCACCTTCCTTTAGTCTCGTCCTGTGGTGTTGAAGGG 22 + 30836230-30836279 22q12.3a "Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), mRNA." "Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8563765] [evidence TAS]; Dense covering of microvilli on the apical surface of epithelial cells in the intestine and kidney; the microvilli aid absorption by increasing the surface area of the cell [goid 5903] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The region of the plasma membrane located at the apical end of the cell [goid 16324] [evidence IEA]" "The process whose specific outcome is the progression of the metanephros over time, from its formation to the mature structure. The metanephros is the excretory organ of the fetus which develops into the kidney and is formed from the rear portion of the nephrogenic cord [goid 1656] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]; The directed movement of carbohydrate into, out of, within or between cells. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y [goid 8643] [evidence IEA]; The directed movement of the hexose monosaccharide glucose into, out of, within or between cells [goid 15758] [pmid 8563765] [evidence IMP]; Any process by which nutrients are taken up from the contents of the intestine [goid 50892] [evidence IEA]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: sugar(out) + H+(out) = sugar(in) + H+(in) [goid 5351] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: glucose(out) + Na+(out) = glucose(in) + Na+(in) [goid 5412] [pmid 8563765] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 18455122] [evidence IPI]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA]" NAGT; SGLT1; D22S675 NAGT; SGLT1; D22S675 Chaperone -> Other chaperones;Membrane traffic protein -> Other membrane traffic protein Intracellular protein traffic -> Exocytosis -> Regulated exocytosis;Neuronal activities -> Synaptic transmission -> Neurotransmitter release Homo sapiens RefSeq ILMN_3516 ILMN_3516 SNCA NM_000345.2 NM_000345.2 6622 6806896 NM_000345.2 SNCA NP_000336.1 ILMN_1766165 7160202 I 360 AAGGAGCCCCACAGGAAGGAATTCTGGAAGATATGCCTGTGGATCCTGAC 4 - 90869394-90869443 4q22.1d "Homo sapiens synuclein, alpha (non A4 component of amyloid precursor) (SNCA), transcript variant NACP140, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 8248242] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Any of the discrete particles (nerve-ending particles) formed from the clublike presynaptic nerve endings that resist disruption and are snapped or torn off their attachments when brain tissue is homogenized in media isosmotic to plasma [goid 19717] [evidence IEA]" "Any process that activates or increases the frequency, rate or extent of the regulated release of a neurotransmitter [goid 1956] [evidence IEA]; The process of communication from a neuron to another neuron across a synapse using the neurotransmitter dopamine [goid 1963] [evidence IEA]; The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester [goid 6644] [evidence IEA]; A process which directly inhibits any of the steps required for cell death by apoptosis [goid 6916] [pmid 10818098] [evidence TAS]; The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord [goid 7417] [pmid 9197268] [evidence TAS]; Any process that modulates the frequency, rate or extent of locomotion of a cell or organism [goid 40012] [evidence IEA]; The chemical reactions and pathways resulting in the formation of dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline [goid 42416] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease [goid 42493] [evidence IEA]; A process that modulates long-term neuronal synaptic plasticity, the ability of neuronal synapses to change long-term as circumstances require. Long-term neuronal synaptic plasticity generally involves increase or decrease in actual synapse numbers [goid 48169] [evidence IEA]; The directed movement of substances in synaptic membrane-bounded vesicles within the neuron along the cytoskeleton either toward or away from the neuronal cell body [goid 48489] [evidence IEA]" Interacting selectively with an identical protein or proteins [goid 42802] [evidence IEA] PD1; NACP; PARK4; MGC110988; PARK1 PD1; NACP; PARK4; MGC110988; PARK1 Transcription factor -> HMG box transcription factor;Nucleic acid binding Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation Homo sapiens RefSeq ILMN_17599 ILMN_17599 SOX9 NM_000346.2 NM_000346.2 6662 37704387 NM_000346.2 SOX9 NP_000337.1 ILMN_1805466 4230475 S 3355 GTATCACTGAGTCATTTGCAGTGTTTTCTGCCACAGACCTTTGGGCTGCC 17 + 67633576-67633625 17q24.3c "Homo sapiens SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) (SOX9), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10805756] [evidence TAS]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]" "The condensation of mesenchymal cells that have been committed to differentiate into chondrocytes [goid 1502] [evidence IEA]; The process involved in the specification of cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment [goid 1708] [evidence IEA]; A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell [goid 1837] [evidence IEA]; The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open [goid 1942] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure [goid 8584] [evidence IEA]; The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell [goid 14032] [evidence IEA]; The determination of sex and sexual phenotype in a male organism's germ line [goid 19100] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell proliferation [goid 42127] [evidence IEA]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of DNA-dependent transcription [goid 45892] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]" "Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Functions to enable the transcription of specific, or specific sets, of genes by RNA polymerase II [goid 3704] [pmid 10805756] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Any transcription regulator activity required for initiation or upregulation of transcription [goid 16563] [evidence IEA]" CMPD1; CMD1; SRA1 CMPD1; CMD1; SRA1 Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_20717 ILMN_20717 SPTB NM_000347.4 NM_000347.4 6710 67782318 NM_000347.4 SPTB NP_000338.3 ILMN_1782845 5390747 A 6284 AAGAACGCCAGATTGCAGAGAGACCCGCAGAGGAGACTGGGCCTCAAGAG 14 - 64303262-64303272:64303774-64303812 14q23.3a "Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA." "Membrane associated dimeric protein (240 and 220 kDa) of erythrocytes. Forms a complex with ankyrin, actin and probably other components of the membrane cytoskeleton, so that there is a mesh of proteins underlying the plasma membrane, potentially restricting the lateral mobility of integral proteins [goid 8091] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 18029348] [evidence IDA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Membrane associated dimeric protein (240 and 220 kDa) of erythrocytes. Forms a complex with ankyrin, actin and probably other components of the membrane cytoskeleton, so that there is a mesh of proteins underlying the plasma membrane, potentially restricting the lateral mobility of integral proteins [goid 8091] [pmid 8226774] [evidence TAS]; The external part of the cell wall and/or plasma membrane [goid 9986] [pmid 10867799] [evidence IDA]; Any macromolecular complex composed of two or more polypeptide subunits, which may or may not be identical. Protein complexes may have other associated non-protein prosthetic groups, such as nucleotides, metal ions or carbohydrate groups [goid 43234] [pmid 16060676] [evidence IDA]" "The binding of a protein or protein complex to the barbed (or plus) end of an actin filament, thus preventing the addition, exchange or removal of further actin subunits [goid 51016] [evidence IEA]" "Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a cytoskeletal structure [goid 5200] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a cytoskeletal structure [goid 5200] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16060676] [evidence IPI]; Interacting selectively with an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits [goid 51015] [pmid 16060676] [evidence IDA]" HSpTB1 HSpTB1 Oxidoreductase -> Dehydrogenase Developmental processes -> Sex determination Homo sapiens RefSeq ILMN_23881 ILMN_166226 SRD5A2 NM_000348.3 NM_000348.3 6716 116805345 NM_000348.3 SRD5A2 NP_000339.2 ILMN_1788895 6350035 S 2136 TGCAAACTCTTGTGAAGGGGTCACCCCAGCATGAGTGCTGAGATATGGAC 2 - 31603419-31603468 2p23.1a "Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways resulting in the formation of androgens, C19 steroid hormones that can stimulate the development of male sexual characteristics [goid 6702] [evidence IEA]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 1944596] [evidence TAS]; Any process that establishes and transmits the specification of sexual status of an individual organism [goid 7530] [evidence IEA]; The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure [goid 8584] [pmid 1944596] [evidence IMP]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; The process whose specific outcome is the progression of the male genitalia over time, from its formation to the mature structure [goid 30539] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" Catalysis of the reaction: a 3-oxo-5-alpha-steroid + acceptor = a 3-oxo-delta(4)-steroid + reduced acceptor [goid 3865] [evidence IEA]; Catalysis of the removal of a C-5 double bond in the B ring of a sterol [goid 9917] [pmid 1944596] [evidence IDA] MGC138457 MGC138457 Transfer/carrier protein -> Other transfer/carrier protein;Membrane traffic protein -> Other membrane traffic protein Lipid, fatty acid and steroid metabolism -> Regulation of lipid, fatty acid and steroid metabolism;Lipid, fatty acid and steroid metabolism -> Other lipid, fatty acid and steroid metabolism;Developmental processes -> Gametogenesis -> Oogenesis Homo sapiens RefSeq ILMN_11402 ILMN_11402 STAR NM_000349.2 NM_000349.2 6770 56243550 NM_000349.2 STAR NP_000340.2 ILMN_1689702 6590615 I 751 GATACATTCATTACTCACGAGCTGGCTGCCGAGGCAGCAGGAAACCTGGT 8 - 38122751-38122800 8p12a "Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The region between the inner and outer lipid bilayers of the mitochondrial envelope [goid 5758] [pmid 16973755] [evidence EXP]; The region between the inner and outer lipid bilayers of the mitochondrial envelope [goid 5758] [pmid 15897605] [evidence EXP]" "The chemical reactions and pathways involving glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects [goid 8211] [evidence IEA]; The chemical reactions and pathways involving lipids, as carried out by individual cells [goid 44255] [evidence IEA]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus [goid 50810] [evidence IEA]; The chemical reactions and pathways resulting in the formation of C21-steroid hormones, steroid compounds containing 21 carbons which function as hormones [goid 6700] [evidence IEA]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The chemical reactions and pathways involving glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects [goid 8211] [evidence IEA]; The chemical reactions and pathways involving lipids, as carried out by individual cells [goid 44255] [evidence IEA]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus [goid 50810] [evidence IEA]" "Interacting selectively with cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 15485] [evidence IEA]; Enables the directed movement of cholesterol into, out of, within or between cells. Cholesterol is the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 17127] [evidence IEA]; Interacting selectively with a lipid [goid 8289] [evidence IEA]; Interacting selectively with cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 15485] [evidence IEA]; Enables the directed movement of cholesterol into, out of, within or between cells. Cholesterol is the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 17127] [evidence IEA]" STARD1 STARD1 Transporter -> ATP-binding cassette (ABC) transporter Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport;Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism;Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Cholesterol metabolism Homo sapiens RefSeq ILMN_28625 ILMN_28625 ABCA4 NM_000350.2 NM_000350.2 24 105990540 NM_000350.2 ABCA4 NP_000341.2 ILMN_1794965 6650504 S 7189 CCGGGCCATCCCACTAGCAGCTTTGGCCTCCATATTGCTCTCATTTCAAG 1 - 94231068-94231117 1p22.1a "Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 9054934] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The transfer of a phospholipid from its site of synthesis to the plasma membrane [goid 6649] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [pmid 9054934] [evidence TAS]; The sequence of reactions within a cell required to convert absorbed photons from visible light into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm [goid 7603] [pmid 9202155] [evidence TAS]; Any process preventing the degeneration of the photoreceptor, a specialized cell type that is sensitive to light [goid 45494] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the movement of phospholipids from one membrane face to the other ('flippase' activity), driven by the hydrolysis of ATP [goid 4012] [evidence IEA]; Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [pmid 9054934] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 9054934] [evidence TAS]; Enables the directed movement of phospholipids into, out of, within or between cells. Phospholipids are a class of lipids containing phosphoric acid as a mono- or diester [goid 5548] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to directly drive the active transport of a substance across a membrane [goid 42626] [pmid 9054934] [evidence TAS]" RMP; STGD; ARMD2; DKFZp781N1972; STGD1; FFM; RP19; CORD3; ABC10; ABCR RMP; STGD; ARMD2; DKFZp781N1972; STGD1; FFM; RP19; CORD3; ABC10; ABCR Hydrolase -> Other hydrolase Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism;Sulfur metabolism Homo sapiens RefSeq ILMN_25374 ILMN_25374 STS NM_000351.4 NM_000351.4 412 153252272 NM_000351.4 STS NP_000342.2 ILMN_1778956 1580678 S 6052 GCTGAGTCCAGTCTCTCTCCCCTACTACAAGTCCCCATTGCTGTGGTCCC X + 7282357-7282406 Xp22.31e-p22.31d "Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 2668275] [evidence TAS]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 2668275] [evidence TAS]; A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [pmid 2668275] [evidence TAS]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 2668275] [evidence TAS]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [pmid 6957717] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 2668275] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2668275] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus [goid 6706] [pmid 6957717] [evidence TAS]; The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth [goid 7565] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 9252398] [evidence TAS]" "Catalysis of the reaction: 3-beta-hydroxyandrost-5-en-17-one 3-sulfate + H2O = 3-beta-hydroxyandrost-5-en-17-one + SO4(2-) (sulfate) [goid 4773] [pmid 2668275] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" ARSC1; ASC; SSDD; ARSC; ES ARSC1; ASC; SSDD; ARSC; ES Transporter -> Other transporter Carbohydrate metabolism;Transport -> Small molecule transport;Transport -> Extracellular transport and import;Immunity and defense -> Detoxification Homo sapiens RefSeq ILMN_4012 ILMN_181441 ABCC8 NM_000352.3 NM_000352.3 6833 118582254 NM_000352.3 ABCC8 NP_000343.2 ILMN_1767129 4850086 S 4852 TTCGTCCGTGCAGACAAGTGACCTGCCAGAGCCCAAGTGCCATCCCACAT 11 - 17371084-17371113:17371114-17371133 11p15.1d "Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA." "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [pmid 7716548] [evidence NAS]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [pmid 7502040] [evidence TAS]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Combining with sulfonylurea to initiate a change in cell activity [goid 8281] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to directly drive the active transport of a substance across a membrane [goid 42626] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 7502040] [evidence TAS]; Combining with sulfonylurea to initiate a change in cell activity [goid 8281] [pmid 7502040] [evidence TAS]; Catalysis of the transfer of potassium ions (K+) from one side of a membrane to the other [goid 15079] [pmid 7502040] [evidence TAS]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to directly drive the active transport of a substance across a membrane [goid 42626] [evidence IEA]" SUR1; HHF1; MRP8; HI; TNDM2; HRINS; ABC36; SUR; PHHI HRINS; SUR1; HHF1; ABC36; MRP8; HI; TNDM2; SUR; PHHI Transferase -> Transaminase Amino acid metabolism Homo sapiens RefSeq ILMN_6875 ILMN_6875 TAT NM_000353.1 NM_000353.1 6898 4507368 NM_000353.1 TAT NP_000344.1 ILMN_1791678 50500 S 2496 AAGTGAGAGCACGCCTGTACTAGAGCAAGCAGGAATCAGAGACCTTCCAG 16 - 70158463-70158512 16q22.3a "Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA." "The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]" "The chemical reactions and pathways involving amino acids, organic acids containing one or more amino substituents, and compounds derived from amino acids, as carried out by individual cells [goid 6519] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of phenylalanine, 2-amino-3-phenylpropanoic acid [goid 6559] [evidence NAS]; The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid [goid 6572] [evidence NAS]; The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones [goid 9058] [evidence IEA]" "Catalysis of the reaction: L-tyrosine + 2-oxoglutarate = 4-hydroxyphenylpyruvate + L-glutamate [goid 4838] [pmid 1973834] [evidence NAS]; Catalysis of the reaction: S-adenosyl-L-methionine = 1-aminocyclopropane-1-carboxylate + methylthioadenosine [goid 16847] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]" Select regulatory molecule -> Protease inhibitor -> Serine protease inhibitor Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_2793 ILMN_2793 SERPINA7 NM_000354.3 NM_000354.3 6906 67010034 NM_000354.3 SERPINA7 NP_000345.1 ILMN_1705243 2190102 S 1390 CCCTGGCTGAACTTTGTTGGCTGTGGAAGAGGCCAATCCTATGGCAGAGC X - 105163972-105164021 Xq22.3a "Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 7499319] [evidence TAS]" "Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [pmid 3094014] [evidence TAS]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [pmid 3094014] [evidence TAS]" TBG TBG Transporter -> Cation transporter;Transfer/carrier protein -> Other transfer/carrier protein Coenzyme and prosthetic group metabolism -> Vitamin metabolism;Coenzyme and prosthetic group metabolism -> Vitamin/cofactor transport;Transport -> Vitamin/cofactor transport;Transport -> Ion transport -> Cation transport Homo sapiens RefSeq ILMN_6136 ILMN_6136 TCN2 NM_000355.2 NM_000355.2 6948 21071009 NM_000355.2 TCN2 NP_000346.2 ILMN_1740572 5670100 S 1685 CTGCAGGTCTCCCATGAAGGCCACCCCATGGTCTGATGGGCATGAAGCAT 22 + 29352751-29352800 22q12.2b "Homo sapiens transcobalamin II; macrocytic anemia (TCN2), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 1708393] [evidence TAS]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of cobalt (Co) ions into, out of, within or between cells [goid 6824] [evidence IEA]; The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell [goid 15889] [pmid 3782074] [evidence TAS]" "Catalysis of the transfer of cobalt (Co) ions from one side of a membrane to the other [goid 15087] [evidence IEA]; Interacting selectively with cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom [goid 31419] [evidence IEA]; Interacting selectively with a cobalt (Co) ion [goid 50897] [evidence IEA]" D22S750; TC2; D22S676 D22S750; TC2; D22S676 Transporter Apoptosis;Sensory perception -> Hearing;Developmental processes -> Ectoderm development -> Neurogenesis Homo sapiens RefSeq ILMN_18418 ILMN_18418 TCOF1 NM_000356.2 NM_000356.2 6949 57164974 NM_000356.2 TCOF1 NP_000347.2 ILMN_1744941 3130435 I 3034 AAGAAGAACCCAGCTTCCCTCCCACTGACCCAGGCTGCCCTGAAGGTCCT 5 + 149751306-149751355 5q33.1c "Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 2, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 15249688] [evidence IDA]" "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 9096354] [evidence TAS]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The synthesis of the large ribosomal RNA (rRNA) transcript which encodes several rRNAs, e.g. in mammals 28S, 18S and 5.8S, from a nuclear DNA template [goid 42790] [evidence IEA]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [pmid 9096354] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]" MFD1; treacle MFD1; treacle Cell adhesion molecule -> Other cell adhesion molecule Signal transduction -> Cell communication -> Extracellular matrix protein-mediated signaling;Cell adhesion;Sensory perception -> Vision;Developmental processes -> Mesoderm development -> Skeletal development;Cell proliferation and differentiation Homo sapiens RefSeq ILMN_24587 ILMN_24587 TGFBI NM_000358.1 NM_000358.1 7045 4507466 NM_000358.1 TGFBI NP_000349.1 ILMN_1663866 7650358 S 2456 CCAGCCTCATGGGAAGTCCTGGCACAGTTTTTGTAAAGCCCTTGCACAGC 5 + 135427171-135427220 5q31.1f-q31.2a "Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 1388724] [evidence TAS]" "Any process that stops, prevents or reduces the frequency, rate or extent of cell adhesion [goid 7162] [pmid 8024701] [evidence TAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 9463327] [evidence TAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 1388724] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" Interacting selectively with an integrin [goid 5178] [pmid 1388724] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] CSD1; CSD2; CDB1; CDGG1; EBMD; CSD3; BIGH3; LCD1; CDG2; CSD CDGG1; EBMD; CSD3; CSD1; BIGH3; LCD1; CSD2; CDG2; CDB1; CSD Transferase -> Acyltransferase;Transferase -> Other transferase Protein metabolism and modification -> Protein modification;Developmental processes -> Other developmental process Homo sapiens RefSeq ILMN_15028 ILMN_15028 TGM1 NM_000359.2 NM_000359.2 7051 110611244 NM_000359.2 TGM1 NP_000350.1 ILMN_1721134 6370615 S 2590 GAGCAATGGGACTGGAGTCAGATGAGCAAGGACATTGCCCCAAGATAGGG 14 - 23788297-23788346 14q12a "Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA." "An insoluble protein structure formed under the plasma membrane of cornifying epithelial cells [goid 1533] [pmid 8824274] [evidence TAS]; An adherens junction which connects two cells to each other [goid 5913] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Located in a membrane such that some covalently attached portion of the gene product, for example part of a peptide sequence or some other covalently attached moiety such as a GPI anchor, spans or is embedded in one or both leaflets of the membrane [goid 31224] [pmid 8824274] [evidence IDA]" "The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [pmid 1979171] [evidence NAS]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [evidence IEA]; The formation of a covalent cross-link between or within protein chains [goid 18149] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a keratinocyte [goid 30216] [pmid 8824274] [evidence IDA]; The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns [goid 31424] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of the cell envelope, everything external to, but not including, the cytoplasmic membrane of bacteria, encompassing the periplasmic space, cell wall, and outer membrane if present [goid 43163] [pmid 14645372] [evidence TAS]" "Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links [goid 3810] [pmid 7961731] [evidence IDA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10510474] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 7592852] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10066784] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9722562] [evidence IPI]; Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" TGK; ICR2; KTG; LI1; LI; TGASE TGK; ICR2; KTG; LI1; LI; TGASE Oxidoreductase -> Oxygenase Amino acid metabolism -> Other amino acid metabolism;Signal transduction Homo sapiens RefSeq ILMN_32431 ILMN_32431 TH NM_000360.3 NM_000360.3 7054 88900502 NM_000360.3 TH NP_000351.2 ILMN_2356578 5220451 A 1660 CGCAACAGCTGTGTGTGCCCGTGGTGAGGTTGTGCTGCCTGTGGTGAGGT 11 - 2141842-2141891 11p15.5a "Homo sapiens tyrosine hydroxylase (TH), transcript variant 2, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10907721] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The portion of the cell soma (cell body) that excludes the nucleus [goid 43204] [evidence IEA]" "The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan) [goid 9072] [evidence IEA]; The process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse [goid 7268] [evidence IEA]; The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan) [goid 9072] [evidence IEA]; The process by which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form [goid 9653] [pmid 7715703] [evidence TAS]; The chemical reactions and pathways resulting in the formation of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell [goid 42136] [evidence IEA]; The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine [goid 42423] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The process of communication from a neuron to another neuron across a synapse using the neurotransmitter dopamine [goid 1963] [evidence IEA]; The chemical reactions and pathways resulting in the formation of dopamine (3,4-dihydroxyphenylethylamine) from L-tyrosine, via the metabolic precursor 3,4-dihydroxy-L-phenylalanine (L-dopa). Dopamine is a catecholamine neurotransmitter and a metabolic precursor of norepinephrine and epinephrine [goid 6585] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience [goid 7612] [evidence IEA]; The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task) [goid 7613] [evidence IEA]; The behavioral interactions between organisms for the purpose of mating, or sexual reproduction resulting in the formation of zygotes [goid 7617] [evidence IEA]; The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions [goid 7626] [evidence IEA]; Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process by which the heart decreases in volume in a characteristic way to propel blood through the body [goid 8016] [evidence IEA]; The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan) [goid 9072] [evidence IEA]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [evidence IEA]; The specific actions or reactions of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue [goid 42755] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Catalysis of the reaction: L-tyrosine + tetrahydrobiopterin + O2 = 3,4-dihydroxy-L-phenylalanine + 4-alpha-hydroxytetrahydrobiopterin + H2O [goid 4511] [pmid 16338639] [evidence IDA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Catalysis of the reaction: L-tyrosine + tetrahydrobiopterin + O2 = 3,4-dihydroxy-L-phenylalanine + 4-alpha-hydroxytetrahydrobiopterin + H2O [goid 4511] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]" TYH TYH Receptor -> Other receptor Signal transduction -> Cell surface receptor mediated signal transduction;Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_10912 ILMN_177604 THBD NM_000361.2 NM_000361.2 7056 40288292 NM_000361.2 THBD NP_000352.1 ILMN_1759787 5720369 S 3746 GCAAATGCTATGAGATGCATGGAGGGCTGCCCTGTACCCCAGCACTTGTG 20 - 22974506-22974555 20p11.21c "Homo sapiens thrombomodulin (THBD), mRNA." The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2538457] [evidence EXP]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2822087] [evidence TAS] "The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth [goid 7565] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 9252393] [evidence TAS]; The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant [goid 9790] [evidence IEA]" "Combining with an extracellular or intracellular messenger to initiate a change in cell activity, and spanning to the membrane of either the cell or an organelle [goid 4888] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 10336638] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 14691232] [evidence IPI]" THRM; CD141; TM THRM; CD141; TM Select regulatory molecule -> Protease inhibitor -> Metalloprotease inhibitor Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_29313 ILMN_29313 TIMP3 NM_000362.4 NM_000362.4 7078 75905820 NM_000362.4 TIMP3 NP_000353.1 ILMN_1701461 2030577 S 4826 CCCCTCGTTCCAGACCTGCCTCATGGTGGCAACATGGTTCTTGAACAATT 22 + 31588368-31588417 22q12.3a "Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [evidence IEA] "The series of molecular signals generated as a consequence of a transmembrane receptor tyrosine kinase binding to its physiological ligand [goid 7169] [pmid 15609325] [evidence NAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" "Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Stops, prevents or reduces the activity of metalloendopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain and contain a chelated metal ion at their active sites which is essential to their catalytic activity [goid 8191] [evidence IEA]; Stops, prevents or reduces the activity of an enzyme [goid 4857] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 18344519] [evidence IPI]; Stops, prevents or reduces the activity of metalloendopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain and contain a chelated metal ion at their active sites which is essential to their catalytic activity [goid 8191] [evidence IEA]" HSMRK222; K222; K222TA2; SFD HSMRK222; K222; K222TA2; SFD Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein Muscle contraction;Developmental processes -> Mesoderm development -> Muscle development Homo sapiens RefSeq ILMN_6131 ILMN_6131 TNNI3 NM_000363.3 NM_000363.3 7137 30141909 NM_000363.3 TNNI3 NP_000354.3 ILMN_1768637 2030465 S 627 GACACCGAGAAGGAAAACCGGGAGGTGGGAGACTGGCGGAAGAACATCGA 19 - 60355059-60355097:60357210-60357220 19q13.42b "Homo sapiens troponin I type 3 (cardiac) (TNNI3), mRNA." "A complex of accessory proteins (typically troponin T, troponin I and troponin C) found associated with actin in muscle thin filaments; involved in calcium regulation of muscle contraction [goid 5861] [pmid 12093807] [evidence IDA]; A complex of accessory proteins (typically troponin T, troponin I and troponin C) found associated with actin in muscle thin filaments; involved in calcium regulation of muscle contraction [goid 5861] [pmid 10806205] [evidence IDA]; A complex of accessory proteins (typically troponin T, troponin I and troponin C) found associated with actin in muscle thin filaments; involved in calcium regulation of muscle contraction [goid 5861] [pmid 10850966] [evidence IDA]; A complex of accessory proteins (typically troponin T, troponin I and troponin C) found associated with actin in muscle thin filaments; involved in calcium regulation of muscle contraction [goid 5861] [pmid 7957210] [evidence IDA]; The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs [goid 30017] [evidence IEA]" "The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes [goid 1570] [evidence ISS]; The process that modulates blood pressure by the detection of carbon dioxide levels in the brain stem. Increased levels activate the sympathetic vasoconstrictor mechanism increasing the force with which blood flows through the circulatory system [goid 1980] [evidence ISS]; The regulation of the levels, transport, and metabolism of calcium ions within a cell or between a cell and its external environment [goid 6874] [evidence ISS]; Any process that modulates the frequency, rate or extent of muscle contraction [goid 6937] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence ISS]; Any process that stops or reduces the rate of ATP hydrolysis by an ATPase [goid 32780] [pmid 10806205] [evidence IMP]; Any process that stops or reduces the rate of ATP hydrolysis by an ATPase [goid 32780] [pmid 11735257] [evidence IDA]; Any process that stops or reduces the rate of ATP hydrolysis by an ATPase [goid 32780] [pmid 7957210] [evidence IDA]; The process by which the anatomical structures of cardiac ventricle muscle is generated and organized. Morphogenesis pertains to the creation of form [goid 55010] [pmid 11815426] [evidence IMP]; Muscle contraction of cardiac muscle tissue [goid 60048] [pmid 11735257] [evidence IMP]" "Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [pmid 10806205] [evidence IDA]; The inhibition of the passage of calcium ions through a calcium channel; the function of some venoms [goid 19855] [pmid 12809519] [evidence IPI]; Interacting selectively with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate [goid 19901] [pmid 12721663] [evidence IPI]; Interacting selectively with a specific domain of a protein [goid 19904] [pmid 11984006] [evidence IPI]; Interacting selectively with troponin C, the calcium-binding subunit of the troponin complex [goid 30172] [pmid 15542288] [evidence IPI]; Interacting selectively with troponin C, the calcium-binding subunit of the troponin complex [goid 30172] [pmid 7957210] [evidence IPI]; Interacting selectively with troponin C, the calcium-binding subunit of the troponin complex [goid 30172] [pmid 11735257] [evidence IPI]; Interacting selectively with troponin T, the tropomyosin-binding subunit of the troponin complex [goid 31014] [pmid 15542288] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules), in the presence of calcium [goid 48306] [pmid 7957210] [evidence IPI]" CMH7; cTnI; TNNC1; MGC116817 CMH7; cTnI; TNNC1; MGC116817 Cytoskeletal protein -> Actin family cytoskeletal protein -> Actin binding motor protein Muscle contraction Homo sapiens RefSeq ILMN_22685 ILMN_23932 TNNT2 NM_000364.2 NM_000364.2 7139 48255876 NM_000364.2 TNNT2 NP_000355.2 ILMN_1664071 4010039 A 1103 CCTGCCCCCACACCCACTCCACACCAGTAATAAAAAGCCACCACACACTG 1 - 199594765-199594814 1q32.1c "Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA." "A complex of accessory proteins (typically troponin T, troponin I and troponin C) found associated with actin in muscle thin filaments; involved in calcium regulation of muscle contraction [goid 5861] [pmid 12093807] [evidence IDA]; A complex of accessory proteins (typically troponin T, troponin I and troponin C) found associated with actin in muscle thin filaments; involved in calcium regulation of muscle contraction [goid 5861] [pmid 2530435] [evidence IDA]; A complex of accessory proteins (typically troponin T, troponin I and troponin C) found associated with actin in muscle thin filaments; involved in calcium regulation of muscle contraction [goid 5861] [pmid 12186860] [evidence IDA]; A complex of accessory proteins (typically troponin T, troponin I and troponin C) found associated with actin in muscle thin filaments; involved in calcium regulation of muscle contraction [goid 5861] [pmid 2530435] [evidence IDA]; A complex of accessory proteins (typically troponin T, troponin I and troponin C) found associated with actin in muscle thin filaments; involved in calcium regulation of muscle contraction [goid 5861] [pmid 12093807] [evidence IDA]" "Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process by which the heart decreases in volume in a characteristic way to propel blood through the body [goid 8016] [pmid 15542288] [evidence IMP]; The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated [goid 30049] [pmid 15923195] [evidence IDA]; The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated [goid 30049] [pmid 12186860] [evidence IDA]; Any process that stops or reduces the rate of ATP hydrolysis by an ATPase [goid 32780] [pmid 12093807] [evidence IDA]; Any process that stops or reduces the rate of ATP hydrolysis by an ATPase [goid 32780] [pmid 10850966] [evidence IDA]; Any process that stops or reduces the rate of ATP hydrolysis by an ATPase [goid 32780] [pmid 12093807] [evidence IDA]; Any process that activates or increases the rate of ATP hydrolysis by an ATPase [goid 32781] [pmid 12186860] [evidence IDA]; Any process that activates or increases the rate of ATP hydrolysis by an ATPase [goid 32781] [pmid 10850966] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus [goid 51592] [pmid 2530435] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus [goid 51592] [pmid 8205619] [evidence IMP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus [goid 51592] [pmid 2530435] [evidence IDA]; The process by which the anatomical structures of cardiac ventricle muscle is generated and organized. Morphogenesis pertains to the creation of form [goid 55010] [pmid 16754800] [evidence IMP]" "Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [pmid 8205619] [evidence IDA]; Interacting selectively with tropomyosin, a protein associated with actin filaments both in cytoplasm and, in association with troponin, in the thin filament of striated muscle [goid 5523] [pmid 10850966] [evidence IDA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [pmid 12093807] [evidence IDA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [pmid 2530435] [evidence IDA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [pmid 12093807] [evidence IDA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [pmid 2530435] [evidence IDA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [pmid 12093807] [evidence IDA]; Interacting selectively with troponin C, the calcium-binding subunit of the troponin complex [goid 30172] [pmid 15542288] [evidence IPI]; Interacting selectively with troponin C, the calcium-binding subunit of the troponin complex [goid 30172] [pmid 8205619] [evidence IPI]; Interacting selectively with troponin I, the inhibitory subunit of the troponin complex [goid 31013] [pmid 15542288] [evidence IPI]" cTnT; CMPD2; CMH2; TnTC; MGC3889 cTnT; TnTC; CMPD2; CMH2; MGC3889 Isomerase Carbohydrate metabolism -> Glycolysis;Other metabolism Homo sapiens RefSeq ILMN_14310 ILMN_14310 TPI1 NM_000365.4 NM_000365.4 7167 52851446 NM_000365.4 TPI1 NP_000356.1 ILMN_2181191 3310477 S 989 CTAAACGTCACCAAGGTGGCTTCTCCTTGGCTGAGAGATGGAAGGCGTGG 12 + 6850022-6850071 12p13.31d "Homo sapiens triosephosphate isomerase 1 (TPI1), mRNA." That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 6434534] [evidence EXP] "The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol [goid 6094] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The process by which glucose is oxidized, coupled to NADPH synthesis. Glucose 6-P is oxidized with the formation of carbon dioxide (CO2), ribulose 5-phosphate and reduced NADP; ribulose 5-P then enters a series of reactions interconverting sugar phosphates. The pentose phosphate pathway is a major source of reducing equivalents for biosynthesis reactions and is also important for the conversion of hexoses to pentoses [goid 6098] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes [goid 6633] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving glyceraldehyde-3-phosphate, an important intermediate in glycolysis [goid 19682] [evidence IEA]" Catalysis of the reaction: D-glyceraldehyde 3-phosphate = glycerone phosphate [goid 4807] [pmid 2876430] [evidence NAS]; Catalysis of the reaction: D-glyceraldehyde 3-phosphate = glycerone phosphate [goid 4807] [pmid 2579079] [evidence TAS]; Catalysis of the reaction: D-glyceraldehyde 3-phosphate = glycerone phosphate [goid 4807] [pmid 6434534] [evidence EXP]; Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5 [goid 16853] [evidence IEA] TPI; MGC88108 TPI; MGC88108 Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_24693 ILMN_24693 TPMT NM_000367.2 NM_000367.2 7172 62953142 NM_000367.2 TPMT NP_000358.1 ILMN_1740185 840014 S 3040 AAACACCCTGTGTCCATGGGATAGAGTCCTTTCCGCTTGCAGTTGTGCCC 6 - 18236681-18236730 6p22.3d "Homo sapiens thiopurine S-methyltransferase (TPMT), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids [goid 6139] [pmid 8316220] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether [goid 8119] [pmid 8316220] [evidence TAS]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" Molecular function unclassified Cell cycle;Cell proliferation and differentiation;Oncogenesis -> Tumor suppressor Homo sapiens RefSeq ILMN_182048 ILMN_182048 TSC1 NM_000368.3 NM_000368.3 7248 56699466 NM_000368.3 TSC1 NP_000359.1 ILMN_2246510 4040373 I 8415 ACTTTCCCGCCTCAATCCTAAAAGCATGTCAACAATCCACATCAGATGCC 9 - 134756707-134756756 9q34.13b "Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 16636147] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9580671] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 10585443] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 15589136] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 15314020] [evidence EXP]; A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane [goid 5884] [pmid 10806479] [evidence IDA]; The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins [goid 5938] [pmid 10806479] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A thin sheetlike process extended by the leading edge of a crawling fibroblast; contains a dense meshwork of actin filaments [goid 30027] [pmid 10806479] [evidence IDA]; A heterodimeric protein complex consisting of tumerin and hamartin; its formation may regulate hamartin homomultimer formation. The complex acts as a GTPase activating protein (GAP) for the small GTPase (Rheb), and inhibits the TOR signaling pathway [goid 33596] [pmid 9580671] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and excretes the end products of body metabolism in the form of urine [goid 1822] [evidence IEA]; The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline [goid 1843] [evidence IEA]; Any process that modulates the frequency, rate or extent of attachment of a cell to the extracellular matrix [goid 1952] [pmid 10806479] [evidence IMP]; The directed movement of rRNA from the nucleus to the cytoplasm [goid 6407] [pmid 17308101] [evidence IMP]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 10915759] [evidence IMP]; The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant [goid 9790] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA [goid 17148] [pmid 17308101] [evidence IMP]; The progression of the hippocampus over time from its initial formation until its mature state [goid 21766] [evidence IEA]; The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon [goid 21987] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon [goid 30030] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the addition of ubiquitin moieties to a protein [goid 31397] [pmid 11175345] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of the TOR signaling pathway [goid 32007] [pmid 17308101] [evidence IMP]; Any process that initiates the activity of an inactive GTPase of the Rho family through the replacement of GDP by GTP [goid 32862] [pmid 10806479] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms [goid 32868] [pmid 16996505] [evidence IDA]; The process by which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier [goid 42552] [evidence IEA]; Any process that modulates the frequency, rate or extent of phosphoprotein phosphatase activity, the catalysis of the hydrolysis of phosphate from a phosphoprotein [goid 43666] [pmid 17308101] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any process that reduces cell size [goid 45792] [evidence IEA]; Any process that modulates the frequency, rate or extent of protein kinase activity [goid 45859] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell) [goid 50808] [evidence IEA]; Any process that modulates the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts [goid 51492] [pmid 10806479] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions [goid 51894] [pmid 10806479] [evidence IDA]; The process whereby a relatively unspecialized cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction [goid 55007] [evidence IEA]; The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and excretes the end products of body metabolism in the form of urine [goid 1822] [evidence IEA]; The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline [goid 1843] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant [goid 9790] [evidence IEA]; The progression of the hippocampus over time from its initial formation until its mature state [goid 21766] [evidence IEA]; The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon [goid 21987] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon [goid 30030] [evidence IEA]; The process by which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier [goid 42552] [evidence IEA]; Any process that reduces cell size [goid 45792] [evidence IEA]; Any process that modulates the frequency, rate or extent of protein kinase activity [goid 45859] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell) [goid 50808] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction [goid 55007] [evidence IEA]" "Interacting selectively with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 47485] [pmid 10806479] [evidence IPI]; Interacting selectively with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 47485] [pmid 12226091] [evidence IPI]; Interacting selectively with a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport [goid 51087] [pmid 10585443] [evidence IPI]" TSC; LAM; KIAA0243; MGC86987 TSC; LAM; MGC86987; KIAA0243 Molecular function unclassified Cell cycle;Cell proliferation and differentiation;Oncogenesis -> Tumor suppressor Homo sapiens RefSeq ILMN_24230 ILMN_182048 TSC1 NM_000368.3 NM_000368.3 7248 56699466 NM_000368.3 TSC1 NP_000359.1 ILMN_1758378 5720605 A 1080 AGCCCGCTTTCCTCATCGTTCAGCCGATGTCACCACCAGCCCTTATGCTG 9 - 134777507-134777556 9q34.13b "Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 16636147] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9580671] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 10585443] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 15589136] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 15314020] [evidence EXP]; A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane [goid 5884] [pmid 10806479] [evidence IDA]; The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins [goid 5938] [pmid 10806479] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A thin sheetlike process extended by the leading edge of a crawling fibroblast; contains a dense meshwork of actin filaments [goid 30027] [pmid 10806479] [evidence IDA]; A heterodimeric protein complex consisting of tumerin and hamartin; its formation may regulate hamartin homomultimer formation. The complex acts as a GTPase activating protein (GAP) for the small GTPase (Rheb), and inhibits the TOR signaling pathway [goid 33596] [pmid 9580671] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and excretes the end products of body metabolism in the form of urine [goid 1822] [evidence IEA]; The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline [goid 1843] [evidence IEA]; Any process that modulates the frequency, rate or extent of attachment of a cell to the extracellular matrix [goid 1952] [pmid 10806479] [evidence IMP]; The directed movement of rRNA from the nucleus to the cytoplasm [goid 6407] [pmid 17308101] [evidence IMP]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 10915759] [evidence IMP]; The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant [goid 9790] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA [goid 17148] [pmid 17308101] [evidence IMP]; The progression of the hippocampus over time from its initial formation until its mature state [goid 21766] [evidence IEA]; The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon [goid 21987] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon [goid 30030] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the addition of ubiquitin moieties to a protein [goid 31397] [pmid 11175345] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of the TOR signaling pathway [goid 32007] [pmid 17308101] [evidence IMP]; Any process that initiates the activity of an inactive GTPase of the Rho family through the replacement of GDP by GTP [goid 32862] [pmid 10806479] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms [goid 32868] [pmid 16996505] [evidence IDA]; The process by which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier [goid 42552] [evidence IEA]; Any process that modulates the frequency, rate or extent of phosphoprotein phosphatase activity, the catalysis of the hydrolysis of phosphate from a phosphoprotein [goid 43666] [pmid 17308101] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any process that reduces cell size [goid 45792] [evidence IEA]; Any process that modulates the frequency, rate or extent of protein kinase activity [goid 45859] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell) [goid 50808] [evidence IEA]; Any process that modulates the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts [goid 51492] [pmid 10806479] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions [goid 51894] [pmid 10806479] [evidence IDA]; The process whereby a relatively unspecialized cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction [goid 55007] [evidence IEA]; The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and excretes the end products of body metabolism in the form of urine [goid 1822] [evidence IEA]; The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline [goid 1843] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant [goid 9790] [evidence IEA]; The progression of the hippocampus over time from its initial formation until its mature state [goid 21766] [evidence IEA]; The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon [goid 21987] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon [goid 30030] [evidence IEA]; The process by which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier [goid 42552] [evidence IEA]; Any process that reduces cell size [goid 45792] [evidence IEA]; Any process that modulates the frequency, rate or extent of protein kinase activity [goid 45859] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell) [goid 50808] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction [goid 55007] [evidence IEA]" "Interacting selectively with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 47485] [pmid 10806479] [evidence IPI]; Interacting selectively with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 47485] [pmid 12226091] [evidence IPI]; Interacting selectively with a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport [goid 51087] [pmid 10585443] [evidence IPI]" TSC; LAM; KIAA0243; MGC86987 TSC; LAM; MGC86987; KIAA0243 Receptor;Extracellular matrix Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling Homo sapiens RefSeq ILMN_17902 ILMN_162766 TSHR NM_000369.2 NM_000369.2 7253 64085120 NM_000369.2 TSHR NP_000360.2 ILMN_1746712 3520563 I 4060 TCCCTGCTGGACTCACCTGGAATCTCTCCACAGCCATACCCACTCATCAC 14 + 80682059-80682108 14q31.1b-q31.1c "Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA." "Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8552586] [evidence TAS]" "The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by modulation of a nucleotide cyclase activity and a subsequent change in the concentration of a cyclic nucleotide [goid 7187] [pmid 8552586] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by activation of adenylyl cyclase and a subsequent increase in the concentration of cyclic AMP [goid 7189] [evidence IEA]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 7920658] [evidence TAS]; Any process that activates or increases the rate or extent of cell proliferation [goid 8284] [pmid 7920658] [evidence TAS]; Locomotory behavior in a fully developed and mature organism [goid 8344] [evidence IEA]; The process whereby a precursor cell type acquires the specialized features of a B cell [goid 30183] [evidence IEA]; Any process that modulates the frequency, rate or extent of locomotion of a cell or organism [goid 40012] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of growth of an organism to reach its usual body size [goid 40018] [evidence IEA]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Combining with a protein hormone to initiate a change in cell activity [goid 16500] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with thyroid-stimulating hormone to initiate a change in cell activity [goid 4996] [pmid 8552586] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] hTSHR-I; LGR3; MGC75129 hTSHR-I; LGR3; MGC75129 Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_911 ILMN_911 TTPA NM_000370.2 NM_000370.2 7274 50592999 NM_000370.2 TTPA NP_000361.1 ILMN_2160750 1690133 S 842 CAGCAGCATTTCTGAGAGCATTCAATGAGAAGTTATGTCATGTGAATGGC 8 - 64136342-64136364:64136365-64136391 8q12.3b "Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 7887897] [evidence TAS]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [pmid 7887897] [evidence TAS]; Attachment of the blastocyst to the uterine lining [goid 7566] [evidence IEA]; The chemical reactions and pathways involving vitamin E, tocopherol, which includes a series of eight structurally similar compounds. Alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant [goid 42360] [evidence IEA]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Interacting selectively with vitamin E, tocopherol, which includes a series of eight structurally similar compounds. Alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant [goid 8431] [pmid 7887897] [evidence TAS]" alphaTTP; ATTP; TTP1; AVED ATTP; TTP1; AVED; alphaTTP Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_2710 ILMN_2710 TTR NM_000371.1 NM_000371.1 7276 4507724 NM_000371.1 TTR NP_000362.1 ILMN_2198912 2030709 S 341 CCCATTCCATGAGCATGCAGAGGTGGTATTCACAGCCAACGACTCCGGCC 18 + 27429195-27429216:27432529-27432556 18q12.1d "Homo sapiens transthyretin (prealbumin, amyloidosis type I) (TTR), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS] "The formation of either of the compounds secreted by the thyroid gland, mainly thyroxine and triiodothyronine. This is achieved by the iodination and joining of tyrosine molecules to form the precursor thyroglobin, proteolysis of this precursor gives rise to the thyroid hormones [goid 6590] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [pmid 10841549] [evidence NAS]" "The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [evidence IEA]; Interacting selectively with a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene [goid 5496] [evidence IEA]; Interacting selectively with retinal, one of the forms of vitamin A. Retinal plays an important role in the visual process in most vertebrates, combining with opsins to form visual pigments in the retina [goid 16918] [evidence IEA]; Interacting selectively with retinol, vitamin A1, 2,6,6-trimethyl-1-(9'-hydroxy-3',7'-dimethylnona-1',3',5',7'-tetraenyl)cyclohex-1-ene, one of the three components that makes up vitamin A. Retinol is an intermediate in the vision cycle and it also plays a role in growth and differentiation [goid 19841] [evidence IEA]" TBPA; HsT2651; PALB HsT2651; PALB; TBPA Oxidoreductase -> Oxygenase;Oxidoreductase -> Oxidase Amino acid metabolism -> Other amino acid metabolism;Sensory perception -> Vision;Developmental processes Homo sapiens RefSeq ILMN_16044 ILMN_16044 TYR NM_000372.4 NM_000372.4 7299 113722118 NM_000372.4 TYR NP_000363.1 ILMN_1788774 5260253 S 1615 GCAGCCACTCCTCATGGAGAAAGAGGATTACCACAGCTTGTATCAGAGCC 11 + 88668125-88668174 11q14.3a "Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11092760] [evidence IDA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 11092760] [evidence TAS]; Any vesicle associated with the Golgi complex and involved in mediating transport within the Golgi or between the Golgi and other parts of the cell [goid 5798] [pmid 10823941] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The lipid bilayer surrounding a melanosome [goid 33162] [evidence IEA]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [pmid 11092760] [evidence IDA]" "The chemical reactions and pathways resulting in the formation of melanin from other compounds, including tyrosine [goid 6583] [pmid 7704033] [evidence TAS]; The chemical reactions and pathways resulting in the formation of eye pigments, any general or particular coloring matter in living organisms, found or utilized in the eye [goid 6726] [pmid 7704033] [evidence TAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 7704033] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [evidence IEA]; The deposition or aggregation of coloring matter in an organism, tissue or cell [goid 43473] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Catalysis of the reaction: L-tyrosine + L-DOPA + O2 = L-DOPA + DOPAquinone + H2O [goid 4503] [pmid 11092760] [evidence IDA]; Interacting selectively with copper (Cu) ions [goid 5507] [pmid 11092760] [evidence IMP]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence ISS]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [evidence ISS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [evidence ISS] SHEP3; OCAIA; OCA1A SHEP3; OCAIA; OCA1A Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_22317 ILMN_22317 UMPS NM_000373.1 NM_000373.1 7372 4507834 NM_000373.1 UMPS NP_000364.1 ILMN_1757437 4180465 S 1790 CAGCCACAGTCCTGTCTGGGTTAGGGTCTTCCACATTTGAGGATCCTTCC 3 + 125945862-125945911 3q21.2a "Homo sapiens uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) (UMPS), mRNA." That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9042911] [evidence EXP] "The chemical reactions and pathways resulting in the formation of pyrimidine bases, 1,3-diazine, organic nitrogenous bases, beginning with the synthesis of a pyrimidine ring from simpler precursors [goid 6207] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a pyrimidine nucleotide, a compound consisting of nucleoside (a pyrimidine base linked to a deoxyribose or ribose sugar) esterified with a phosphate moiety at either the 3' or 5'-hydroxyl group of its glycose moiety [goid 6221] [evidence IEA]; The chemical reactions and pathways resulting in the formation of UMP, uridine monophosphate [goid 6222] [pmid 6893554] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving a nucleoside, a nucleobase linked to either beta-D-ribofuranose (ribonucleoside) or 2-deoxy-beta-D-ribofuranose, (a deoxyribonucleotide), e.g. adenosine, guanosine, inosine, cytidine, uridine and deoxyadenosine, deoxyguanosine, deoxycytidine and thymidine (= deoxythymidine) [goid 9116] [evidence IEA]" "Catalysis of the reaction: orotidine 5'-phosphate + diphosphate = orotate + 5-phospho-alpha-D-ribose 1-diphosphate [goid 4588] [pmid 9042911] [evidence EXP]; Catalysis of the reaction: orotidine 5'-phosphate + diphosphate = orotate + 5-phospho-alpha-D-ribose 1-diphosphate [goid 4588] [pmid 6893554] [evidence TAS]; Catalysis of the reaction: orotidine 5'-phosphate = UMP + CO2 [goid 4590] [pmid 9042911] [evidence EXP]; Catalysis of the reaction: orotidine 5'-phosphate = UMP + CO2 [goid 4590] [pmid 6893554] [evidence TAS]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]" OPRT OPRT Lyase -> Decarboxylase Coenzyme and prosthetic group metabolism -> Porphyrin metabolism Homo sapiens RefSeq ILMN_23649 ILMN_23649 UROD NM_000374.3 NM_000374.3 7389 71051615 NM_000374.3 UROD NP_000365.3 ILMN_1740742 4760020 S 1048 GAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACC 1 + 45253263-45253265:45253596-45253642 1p34.1c "Homo sapiens uroporphyrinogen decarboxylase (UROD), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The chemical reactions and pathways resulting in the formation of any member of a large group of derivatives or analogs of porphyrin. Porphyrin consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group [goid 6779] [evidence IEA]; The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors [goid 6783] [evidence IEA]" "Catalysis of the reaction: uroporphyrinogen-III = coproporphyrinogen + 4 CO2 [goid 4853] [evidence IEA]; Catalysis of the reaction: uroporphyrinogen-III = coproporphyrinogen + 4 CO2 [goid 4853] [pmid 1634232] [evidence TAS]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]" PCT PCT Synthase and synthetase -> Synthase;Hydrolase -> Other hydrolase Coenzyme and prosthetic group metabolism -> Porphyrin metabolism Homo sapiens RefSeq ILMN_4556 ILMN_4556 UROS NM_000375.1 NM_000375.1 7390 4557872 NM_000375.1 UROS NP_000366.1 ILMN_1797384 1470632 S 1172 GTGCACGTGACTGCCCTCTGTGGAAGCCAGCTTAAACCCTAGCCCTGTGA 10 - 127467199-127467248 10q26.2a "Homo sapiens uroporphyrinogen III synthase (congenital erythropoietic porphyria) (UROS), mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]" "The chemical reactions and pathways resulting in the formation of any member of a large group of derivatives or analogs of porphyrin. Porphyrin consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group [goid 6779] [evidence IEA]; The chemical reactions and pathways leading to the formation of tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next [goid 33014] [evidence IEA]; The chemical reactions and pathways leading to the formation of tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next [goid 33014] [evidence IEA]; The chemical reactions and pathways resulting in the formation of uroporphyrinogen III [goid 6780] [pmid 2331520] [evidence TAS]; The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors [goid 6783] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the reaction: hydroxymethylbilane = uroporphyrinogen-III + H2O [goid 4852] [evidence IEA]; Catalysis of the reaction: hydroxymethylbilane = uroporphyrinogen-III + H2O [goid 4852] [evidence IEA]; Catalysis of the reaction: hydroxymethylbilane = uroporphyrinogen-III + H2O [goid 4852] [evidence IEA]; Catalysis of the reaction: hydroxymethylbilane = uroporphyrinogen-III + H2O [goid 4852] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]" Receptor -> Nuclear hormone receptor;Transcription factor -> Nuclear hormone receptor;Nucleic acid binding Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Signal transduction -> Cell communication -> Steroid hormone-mediated signaling;Developmental processes -> Mesoderm development -> Skeletal development;Homeostasis Homo sapiens RefSeq ILMN_7771 ILMN_7771 VDR NM_000376.2 NM_000376.2 7421 63054843 NM_000376.2 VDR NP_000367.1 ILMN_2319952 5960440 A 4139 CACCACCTAGGCCACTCCTCCAAAGGAAGTCTAGGAGCTGGGAGGAAAAG 12 - 46522051-46522100 12q13.11c "Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]" "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]; The regulation of the levels, transport, and metabolism of calcium ions within a cell or between a cell and its external environment [goid 6874] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 2849209] [evidence TAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription [goid 16481] [pmid 11891224] [evidence IDA]; Any process by which nutrients are taken up from the contents of the intestine [goid 50892] [evidence IEA]" "The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Combining with a steroid hormone to initiate a change in cell activity [goid 3707] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10866662] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Combining with vitamin D3, cholecalciferol, to initiate a change in cell activity [goid 8434] [pmid 9070272] [evidence TAS]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" NR1I1 NR1I1 Cytoskeletal protein -> Actin family cytoskeletal protein -> Other actin family cytoskeletal protein Immunity and defense;Cell structure and motility Homo sapiens RefSeq ILMN_1668 ILMN_1668 WAS NM_000377.1 NM_000377.1 7454 4507908 NM_000377.1 WAS NP_000368.1 ILMN_1760027 70451 S 1677 TGCTGTTATCCCTGCCTGGTCCTCACACTCACCCAACAATCCCAAGGCCC X + 48434631-48434680 Xp11.23d "Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The lipid bilayer surrounding any membrane-bounded vesicle in the cell [goid 12506] [evidence IEA]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [pmid 8625410] [evidence TAS]" "The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 8625410] [evidence TAS]; Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack [goid 6952] [pmid 8069912] [evidence TAS]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 8069912] [evidence IMP]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 8069912] [evidence TAS]; The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 8069912] [evidence TAS]; The directed movement of substances into, out of or mediated by an endosome, a membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 16197] [evidence IEA]; Assembly of actin filaments by the addition of actin monomers to a filament [goid 30041] [evidence IEA]; Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins [goid 30048] [evidence IEA]; The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific [goid 42110] [evidence IEA]" Modulates the rate of GTP hydrolysis by a small monomeric GTPase [goid 5083] [pmid 8625410] [evidence TAS]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 12769847] [evidence IPI] WASP; IMD2; THC WASP; IMD2; THC Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor;Nucleic acid binding Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes;Cell cycle -> Cell cycle control;Cell proliferation and differentiation;Oncogenesis -> Tumor suppressor Homo sapiens RefSeq ILMN_22400 ILMN_22400 WT1 NM_000378.3 NM_000378.3 7490 65507713 NM_000378.3 WT1 NP_000369.3 ILMN_2366967 4290278 A 1825 ACCGGTGCTTCTGGAAACTACCAGGTGTGCCTGGAAGAGTTGGTCTCTGC 11 - 32366995-32367044 11p13e "Homo sapiens Wilms tumor 1 (WT1), transcript variant A, mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence NAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "Any process that stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 122] [pmid 7585606] [evidence IDA]; The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes [goid 1570] [evidence IEA]; The process whose specific outcome is the progression of the metanephros over time, from its formation to the mature structure. The metanephros is the excretory organ of the fetus which develops into the kidney and is formed from the rear portion of the nephrogenic cord [goid 1656] [evidence IEA]; The process whose specific outcome is the progression of the mesonephros over time, from its formation to the mature structure. The mesonephros is a transient excretory organ of the embryo [goid 1823] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 7862533] [evidence NAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 8393820] [evidence NAS]; The process whose specific outcome is the progression of the immature germ cell over time, from its formation to the mature structure (gamete) [goid 7281] [evidence IEA]; Any process that establishes and transmits the specification of sexual status of an individual organism [goid 7530] [evidence IEA]; The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure [goid 8584] [evidence IEA]; The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure [goid 9888] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium [goid 30855] [evidence IEA]; The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field [goid 43010] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]" The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 7862533] [evidence NAS]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 8393820] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA] GUD; WT33; WAGR; WIT-2 GUD; WT33; WAGR; WIT-2 Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_17143 ILMN_181778 XDH NM_000379.3 NM_000379.3 7498 91823270 NM_000379.3 XDH NP_000370.2 ILMN_1712632 2480088 S 4351 GAATAGGGTCGGGAAGGGTTTGTGCTATTCCCCACTTACTGGACAGCCTG 2 - 31412008-31412057 2p23.1a "Homo sapiens xanthine dehydrogenase (XDH), mRNA." "A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8670112] [evidence EXP]" "The secretion of milk by the mammary gland [goid 7595] [evidence IEA]; Any process that modulates the frequency, rate or extent of epithelial cell differentiation [goid 30856] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: xanthine + NAD+ + H2O = urate + NADH + H+ [goid 4854] [pmid 8224915] [evidence TAS]; Catalysis of the reaction: xanthine + H2O + O2 = urate + H2O2 [goid 4855] [evidence IEA]; Catalysis of the reaction: xanthine + H2O + O2 = urate + H2O2 [goid 4855] [pmid 8670112] [evidence EXP]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with molybdenum (Mo) ions [goid 30151] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [evidence IEA]; Interacting selectively with a 2 iron, 2 sulfur (2Fe-2S) cluster; this cluster consists of two iron atoms, with two inorganic sulfur atoms found between the irons and acting as bridging ligands [goid 51537] [evidence IEA]" XOR; XO XOR; XO Nucleic acid binding -> Damaged DNA-binding protein Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair Homo sapiens RefSeq ILMN_28155 ILMN_28155 XPA NM_000380.2 NM_000380.2 7507 31543966 NM_000380.2 XPA NP_000371.1 ILMN_1787591 2640379 S 1178 TGAGGACAAGATACCAAGGCAAACCCTAGATTGGGGTAGAGGGAAAAGGG 9 - 99477201-99477250 9q22.33b "Homo sapiens xeroderma pigmentosum, complementation group A (XPA), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 1601884] [evidence TAS]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10214908] [evidence EXP]" "The removal of the oligonucleotide that contains the DNA damage. The oligonucleotide is formed by dual incisions that flank the site of DNA damage [goid 718] [pmid 10583946] [evidence EXP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [evidence IEA]; A cascade of processes initiated by the detection of DNA damage and resulting in the induction of apoptosis (programmed cell death) [goid 8630] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers [goid 9411] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxin stimulus [goid 9636] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with damaged DNA [goid 3684] [pmid 10946233] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with a specific domain of a protein [goid 19904] [pmid 17720715] [evidence IPI]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 8197175] [evidence IPI]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" XP1; XPAC XP1; XPAC Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Non-motor microtubule binding protein;Ligase -> Ubiquitin-protein ligase Protein metabolism and modification -> Proteolysis;Developmental processes Homo sapiens RefSeq ILMN_3719 ILMN_3719 MID1 NM_000381.1 NM_000381.1 4281 4557752 NM_000381.1 MID1 NP_000372.1 ILMN_2371433 6940392 A 2100 CCCCACCTTCACCGTGTGGAACAAGTGTCTGACGATTATCACTGGGCTCC X - 10377448-10377497 Xp22.2 "Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 1, mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; Any multimeric complex connected to a microtubule [goid 5875] [pmid 10077590] [evidence TAS]; The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins [goid 15630] [evidence IEA]" "A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins [goid 226] [pmid 10077590] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol [goid 7026] [evidence IEA]; Any developmental process that results in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate [goid 7389] [pmid 9354791] [evidence TAS]" "Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10077590] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" RNF59; OGS1; TRIM18; FXY; OS; XPRF; GBBB1; OSX; BBBG1; ZNFXY RNF59; OGS1; TRIM18; FXY; OS; XPRF; GBBB1; OSX; BBBG1; ZNFXY Transcription factor -> Zinc finger transcription factor -> Other zinc finger transcription factor Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription;Immunity and defense -> Stress response Homo sapiens RefSeq ILMN_179368 ILMN_179368 AIRE NM_000383.1 NM_000383.1 326 4557290 NM_000383.1 AIRE NP_000374.1 ILMN_2261519 5820386 I 2118 TGAGATTGCGCCACTGCACTCCAGTCTGGTCGGCAAGAGTGAGACTCCGT 21 + 44542391-44542440 21q22.3d "Homo sapiens autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) (AIRE), transcript variant AIRE-1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9398840] [evidence NAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 9398840] [evidence NAS]; An immune response mediated through a body fluid [goid 6959] [evidence IEA]; An immune response mediated through a body fluid [goid 6959] [evidence IEA]" "The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9398839] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Any substance involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome [goid 45182] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Any substance involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome [goid 45182] [evidence IEA]" PGA1; APECED; AIRE1; APSI; APS1 PGA1; APECED; AIRE1; APSI; APS1 Transfer/carrier protein -> Apolipoprotein Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport Homo sapiens RefSeq ILMN_9286 ILMN_179571 APOB NM_000384.2 NM_000384.2 338 105990531 NM_000384.2 APOB NP_000375.2 ILMN_1664024 240541 S 13948 TAAGCAGAAGCACATATGAACTGGACCTGCACCAAAGCTGGCACCAGGGC 2 - 21077929-21077978 2p24.1c "Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 12692552] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 4345202] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8300609] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 9548923] [evidence EXP]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The volume enclosed by the membranes of the endoplasmic reticulum [goid 5788] [pmid 12692552] [evidence EXP]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [pmid 7853698] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8300609] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 221835] [evidence EXP]; The lipid bilayer surrounding an endosome [goid 10008] [pmid 221835] [evidence EXP]; The lipid bilayer surrounding a clathrin-coated endocytic vesicle [goid 30669] [pmid 221835] [evidence EXP]; The volume enclosed by the membrane of an endosome [goid 31904] [pmid 221835] [evidence EXP]; A chylomicron that contains apolipoprotein C2 (APOC2), a cofactor for lipoprotein lipase (LPL) activity, and has a mean diameter of 500 nm and density of 0.95g/ml. Mature chylomicron particles transport exogenous (dietary) lipids from the intestines to other body tissues, via the blood and lymph [goid 34359] [pmid 4363408] [evidence IDA]; A lipoprotein particle that is derived from a mature chylomicron particle by the removal of triglycerides from the chylomicron core by lipoprotein lipase and the subsequent loss of surface components. It characteristically contains apolipoprotein E (APOE) and is cleared from the blood by the liver [goid 34360] [pmid 6099394] [evidence TAS]; A triglyceride-rich lipoprotein particle that is typically composed of APOB100, APOE and APOCs and has a density of about 1.006 g/ml and a diameter of between 20-80 nm. It is found in blood and transports endogenous products (newly synthesized cholesterol and triglycerides) from the liver [goid 34361] [pmid 4363408] [evidence IDA]; A lipoprotein particle, rich in cholesterol esters and low in triglycerides that is typically composed of APOB100 and APOE and has a density of 1.02-1.06 g/ml and a diameter of between 20-25 nm. LDL particles are formed from VLDL particles (via IDL) by the loss of triacylglycerol and gain of cholesterol ester. They transport endogenous cholesterol (and to some extent triglycerides) from peripheral tissues back to the liver [goid 34362] [pmid 4363408] [evidence IDA]" "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The release of triacylglycerols, any triester of glycerol, from storage within cells or tissues, making them available for metabolism [goid 6642] [evidence IEA]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus [goid 8202] [evidence IEA]; The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues [goid 8203] [evidence IEA]; The directed movement of cholesterol, cholest-5-en-3-beta-ol, into, out of, within or between cells [goid 30301] [evidence IEA]; The acquisition, loss or modification of a protein or lipid within a low-density lipoprotein particle, including the hydrolysis of triglyceride by hepatic lipase, with the subsequent loss of free fatty acid, and the transfer of cholesterol esters from LDL to a triglyceride-rich lipoprotein particle by cholesteryl ester transfer protein (CETP), with the simultaneous transfer of triglyceride to LDL [goid 34374] [pmid 15797858] [evidence IMP]; The process by which a low-density lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded [goid 34383] [pmid 2563166] [evidence IMP]; The process by which a low-density lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded [goid 34383] [pmid 15797858] [evidence IMP]; Any process involved in the maintenance of an internal equilibrium of cholesterol within an organism or cell [goid 42632] [pmid 2563166] [evidence IMP]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]" "Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]; Interacting selectively with phospholipids, a class of lipids containing phosphoric acid as a mono- or diester [goid 5543] [pmid 7126555] [evidence IDA]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [evidence IEA]; Enables the directed movement of cholesterol into, out of, within or between cells. Cholesterol is the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 17127] [pmid 15797858] [evidence IMP]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 8245722] [evidence IPI]; Interacting selectively with a low density lipoprotein receptor [goid 50750] [pmid 15797858] [evidence IMP]; Interacting selectively with a low density lipoprotein receptor [goid 50750] [pmid 2563166] [evidence IMP]; Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]" FLDB FLDB Protease -> Cysteine protease Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_3011 ILMN_3011 BLMH NM_000386.2 NM_000386.2 642 33591068 NM_000386.2 BLMH NP_000377.1 ILMN_1721921 2850577 S 2294 AGCCAAATGGTTTAACTTCTGCCTGTGGAACTGGGGATTGGGTGGGCAGG 17 - 25599422-25599471 17q11.2c "Homo sapiens bleomycin hydrolase (BLMH), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 8639621] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 8639621] [evidence TAS]" "The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 9546396] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxin stimulus [goid 9636] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease [goid 42493] [evidence IEA]" "Catalysis of the hydrolysis of N-terminal amino acid residues from in a polypeptide chain [goid 4177] [pmid 9546396] [evidence TAS]; Catalysis of the hydrolysis of the terminal or penultimate peptide bond at the C-terminal end of a peptide or polypeptide [goid 4180] [pmid 9546396] [evidence TAS]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile [goid 4197] [pmid 8639621] [evidence TAS]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" BMH; BH BMH; BH Transporter;Transfer/carrier protein -> Mitochondrial carrier protein Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport Homo sapiens RefSeq ILMN_29792 ILMN_165043 SLC25A20 NM_000387.3 NM_000387.3 788 46276890 NM_000387.3 SLC25A20 NP_000378.1 ILMN_1667429 1430286 I 521 TTCAGGCTTCTTCAGGAGAAAGCAAGTACACTGGTACCTTGGACTGTGCA 3 - 48875045-48875094 3p21.31e "Homo sapiens solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (SLC25A20), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [pmid 9399886] [evidence EXP]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The transfer of acyl groups to and from acyl-CoA molecules to form O-acylcarnitine, which can exchange across the mitochondrial inner membrane with unacylated carnitine [goid 6853] [pmid 11257506] [evidence EXP]; Any process that modulates the frequency, rate or extent of fatty acid oxidation [goid 46320] [pmid 16054041] [evidence EXP]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Enables the directed movement of acyl carnitine into, out of, within or between cells. Acyl carnitine is the condensation product of a carboxylic acid and carnitine and is the transport form for a fatty acid crossing the mitochondrial membrane [goid 15227] [pmid 9399886] [evidence EXP]" CAC; CACT CAC; CACT Receptor -> G-protein coupled receptor Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Developmental processes -> Mesoderm development -> Skeletal development;Homeostasis -> Calcium ion homeostasis Homo sapiens RefSeq ILMN_10103 ILMN_10103 CASR NM_000388.2 NM_000388.2 846 37577158 NM_000388.2 CASR NP_000379.2 ILMN_1767711 2940594 S 4710 GGCTTCGTCATTTGCAAGCTGAGTGACTGTAGGCAGGGAACCTTAACCTC 3 + 123487829-123487878 3q13.33c-q21.1a "Homo sapiens calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism) (CASR), mRNA." PCAR1; CAR; MGC138441; FIH; NSHPT; HHC1; HHC; GPRC2A; FHH PCAR1; CAR; MGC138441; FIH; NSHPT; HHC1; HHC; GPRC2A; FHH Select regulatory molecule -> Kinase modulator -> Kinase inhibitor Cell cycle -> Cell cycle control;Cell proliferation and differentiation;Oncogenesis -> Tumor suppressor Homo sapiens RefSeq ILMN_5895 ILMN_16780 CDKN1A NM_000389.2 NM_000389.2 1026 17978496 NM_000389.2 CDKN1A NP_000380.1 ILMN_1784602 4230201 A 1981 GTCCTGGTTCCCGTTTCTCCACCTAGACTGTAAACCTCTCGAGGGCAGGG 6 + 36762947-36762996 6p21.31a "Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 1, mRNA." "Cyclin-dependent protein kinases (CDKs) are heterodimeric enzymes that contain a kinase catalytic subunit associated with a regulatory cyclin partner [goid 307] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 16782892] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11931757] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9190208] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9632134] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9840943] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11231585] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10323868] [evidence EXP]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9632134] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9106657] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]" "Progression from G1 phase to S phase of the mitotic cell cycle [goid 82] [pmid 10208428] [evidence IDA]; Progression from G2 phase to M phase of the mitotic cell cycle [goid 86] [pmid 17553787] [evidence IMP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism [goid 6974] [evidence IEA]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; Any process induced by intracellular signals that directly activates any of the steps required for cell death by apoptosis [goid 8629] [pmid 9660939] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers [goid 9411] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell growth [goid 30308] [pmid 10208428] [evidence IDA]; Any process that activates or increases the rate or extent of B cell proliferation [goid 30890] [evidence IEA]; A change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus [goid 31668] [pmid 17553787] [evidence IMP]; Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule [goid 42326] [pmid 10208428] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of non-apoptotic programmed cell death, cell death resulting from activation of endogenous cellular processes, by a mechanism other than apoptosis [goid 43071] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of CDK activity [goid 45736] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells [goid 48146] [pmid 17420273] [evidence IMP]" "Stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein [goid 4860] [evidence IEA]; Stops, prevents or reduces the activity of a cyclin-dependent protein kinase [goid 4861] [pmid 10323868] [evidence EXP]; Stops, prevents or reduces the activity of a cyclin-dependent protein kinase [goid 4861] [pmid 8242751] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with cyclins, proteins whose levels in a cell varies markedly during the cell cycle, rising steadily until mitosis, then falling abruptly to zero. As cyclins reach a threshold level, they are thought to drive cells into G2 phase and thus to mitosis [goid 30332] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" P21; MDA-6; SDI1; p21CIP1; CIP1; CDKN1; WAF1; CAP20 P21; MDA-6; SDI1; p21CIP1; CIP1; CDKN1; WAF1; CAP20 Select regulatory molecule -> G-protein modulator;Transferase -> Acyltransferase Signal transduction -> Intracellular signaling cascade;Signal transduction -> Cell communication -> Ligand-mediated signaling;Intracellular protein traffic -> General vesicle transport;Transport;Neuronal activities -> Synaptic transmission -> Neurotransmitter release Homo sapiens RefSeq ILMN_137827 ILMN_15865 CHM NM_000390.2 NM_000390.2 1121 82617643 NM_000390.2 CHM NP_000381.1 ILMN_1709112 2060048 S 1894 CAGCCAGAGGCTTCAGAATCCAGTGCCATACCAGAGGCTAACTCGGAGAC X - 85006339-85006388 Xq21.2a "Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA." "A heterodimeric enzyme complex, which in mammals is composed of an alpha and a beta subunit, and which associates with an accessory protein Rep (Rab escort protein). Catalyzes of the transfer of a geranyl-geranyl moiety from geranylgeranyl pyrophosphate to a Rab protein [goid 5968] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 18029348] [evidence IDA]; A heterodimeric enzyme complex, which in mammals is composed of an alpha and a beta subunit, and which associates with an accessory protein Rep (Rab escort protein). Catalyzes of the transfer of a geranyl-geranyl moiety from geranylgeranyl pyrophosphate to a Rab protein [goid 5968] [pmid 8380507] [evidence TAS]" "The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [evidence IEA]; Any process that modulates the rate of GTP hydrolysis by a GTPase [goid 43087] [evidence IEA]; The process whose specific outcome is the progression of the blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood [goid 1568] [evidence IEA]; The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 7981670] [evidence TAS]; The covalent attachment of a geranylgeranyl moiety to a protein amino acid [goid 18348] [pmid 8380507] [evidence TAS]; Any process that modulates the rate of GTP hydrolysis by a GTPase [goid 43087] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" "Catalysis of the reaction: 2 geranylgeranyl diphosphate + protein-cysteine = 2 S-geranylgeranyl-protein + 2 diphosphate. This reaction is the formation of two thioether linkages between the C-1 atom of the geranylgeranyl groups and two cysteine residues within the terminal sequence motifs XXCC, XCXC or CCXX. Known substrates include Ras-related GTPases of a single family and the Rab family [goid 4663] [evidence IEA]; Catalysis of the reaction: 2 geranylgeranyl diphosphate + protein-cysteine = 2 S-geranylgeranyl-protein + 2 diphosphate. This reaction is the formation of two thioether linkages between the C-1 atom of the geranylgeranyl groups and two cysteine residues within the terminal sequence motifs XXCC, XCXC or CCXX. Known substrates include Ras-related GTPases of a single family and the Rab family [goid 4663] [pmid 8380507] [evidence TAS]; Increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP [goid 5096] [evidence IEA]" TCD; REP-1; FLJ38564; DXS540; MGC102710; GGTA; HSD-32 FLJ38564; DXS540; TCD; REP-1; MGC102710; GGTA; HSD-32 Select regulatory molecule -> G-protein modulator;Transferase -> Acyltransferase Signal transduction -> Intracellular signaling cascade;Signal transduction -> Cell communication -> Ligand-mediated signaling;Intracellular protein traffic -> General vesicle transport;Transport;Neuronal activities -> Synaptic transmission -> Neurotransmitter release Homo sapiens RefSeq ILMN_34681 ILMN_15865 CHM NM_000390.2 NM_000390.2 1121 82617643 NM_000390.2 CHM NP_000381.1 ILMN_1771238 780376 S 5159 CTGCCATAGTTACCTGGATTGTCAGCCTTGGTAGCCTTTGTCTAAAGTCC X - 85003074-85003123 Xq21.2a "Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA." "A heterodimeric enzyme complex, which in mammals is composed of an alpha and a beta subunit, and which associates with an accessory protein Rep (Rab escort protein). Catalyzes of the transfer of a geranyl-geranyl moiety from geranylgeranyl pyrophosphate to a Rab protein [goid 5968] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 18029348] [evidence IDA]; A heterodimeric enzyme complex, which in mammals is composed of an alpha and a beta subunit, and which associates with an accessory protein Rep (Rab escort protein). Catalyzes of the transfer of a geranyl-geranyl moiety from geranylgeranyl pyrophosphate to a Rab protein [goid 5968] [pmid 8380507] [evidence TAS]" "The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [evidence IEA]; Any process that modulates the rate of GTP hydrolysis by a GTPase [goid 43087] [evidence IEA]; The process whose specific outcome is the progression of the blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood [goid 1568] [evidence IEA]; The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 7981670] [evidence TAS]; The covalent attachment of a geranylgeranyl moiety to a protein amino acid [goid 18348] [pmid 8380507] [evidence TAS]; Any process that modulates the rate of GTP hydrolysis by a GTPase [goid 43087] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" "Catalysis of the reaction: 2 geranylgeranyl diphosphate + protein-cysteine = 2 S-geranylgeranyl-protein + 2 diphosphate. This reaction is the formation of two thioether linkages between the C-1 atom of the geranylgeranyl groups and two cysteine residues within the terminal sequence motifs XXCC, XCXC or CCXX. Known substrates include Ras-related GTPases of a single family and the Rab family [goid 4663] [evidence IEA]; Catalysis of the reaction: 2 geranylgeranyl diphosphate + protein-cysteine = 2 S-geranylgeranyl-protein + 2 diphosphate. This reaction is the formation of two thioether linkages between the C-1 atom of the geranylgeranyl groups and two cysteine residues within the terminal sequence motifs XXCC, XCXC or CCXX. Known substrates include Ras-related GTPases of a single family and the Rab family [goid 4663] [pmid 8380507] [evidence TAS]; Increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP [goid 5096] [evidence IEA]" TCD; REP-1; FLJ38564; DXS540; MGC102710; GGTA; HSD-32 FLJ38564; DXS540; TCD; REP-1; MGC102710; GGTA; HSD-32 Protease -> Serine protease Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_19883 ILMN_19883 TPP1 NM_000391.3 NM_000391.3 1200 118582287 NM_000391.3 TPP1 NP_000382.3 ILMN_1729234 670113 S 3286 CAGTGCTTGGCACCTGGAAGTAGGTGGCAGATGTTAACGCCCTTCCTCCC 11 - 6590770-6590819 11p15.4c "Homo sapiens tripeptidyl peptidase I (TPP1), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [pmid 12134079] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 15317752] [evidence IDA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 9295267] [evidence IMP]; A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells [goid 42470] [evidence IEA]" "The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 10965052] [evidence IMP]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 9295267] [evidence IMP]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 9295267] [evidence TAS]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases [goid 7040] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 9295267] [evidence IMP]; The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds [goid 30163] [pmid 10740217] [evidence NAS]; The chemical reactions and pathways resulting in the breakdown of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another [goid 43171] [pmid 15158442] [evidence IMP]; The chemical reactions and pathways resulting in the breakdown of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another [goid 43171] [pmid 9989590] [evidence IMP]; The process by which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products [goid 45453] [pmid 8215436] [evidence IMP]; Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors [goid 50885] [evidence IEA]" "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12134079] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [pmid 9295267] [evidence IMP]; Catalysis of the release of an N-terminal tripeptide from a polypeptide [goid 8240] [pmid 11054422] [evidence IDA]; Catalysis of the release of an N-terminal tripeptide from a polypeptide [goid 8240] [pmid 10679303] [evidence IMP]; Catalysis of the release of an N-terminal tripeptide from a polypeptide [goid 8240] [pmid 10617131] [evidence IMP]; Catalysis of the release of an N-terminal tripeptide from a polypeptide [goid 8240] [pmid 12134079] [evidence IDA]; Catalysis of the release of an N-terminal tripeptide from a polypeptide [goid 8240] [pmid 14609438] [evidence ISS]; Catalysis of the release of an N-terminal tripeptide from a polypeptide [goid 8240] [pmid 10965052] [evidence IDA]" MGC21297; LPIC; TPP I; GIG1; CLN2 MGC21297; LPIC; TPP I; GIG1; CLN2 Transporter -> ATP-binding cassette (ABC) transporter Transport -> Small molecule transport;Transport -> Extracellular transport and import;Immunity and defense -> Detoxification Homo sapiens RefSeq ILMN_9691 ILMN_9691 ABCC2 NM_000392.1 NM_000392.1 1244 4557480 NM_000392.1 ABCC2 NP_000383.1 ILMN_1676278 2230746 S 4582 CGGCAGCCCTGAAGAACTGCTACAAATCCCTGGACCCTTTTACTTTATGG 10 + 101601291-101601340 10q24.2c "Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7559771] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The region of the plasma membrane located at the apical end of the cell [goid 16324] [evidence IEA]; An extremely narrow tubular channel located between adjacent cells. An instance of this is the secretory canaliculi occurring between adjacent parietal cells in the gastric mucosa of vertebrates [goid 46581] [evidence IEA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [pmid 7559771] [evidence TAS]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of organic anions from one side of a membrane to the other. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage [goid 8514] [pmid 7559771] [evidence TAS]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to directly drive the active transport of a substance across a membrane [goid 42626] [pmid 7559771] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]" MRP2; CMOAT; ABC30; DJS; KIAA1010; cMRP DJS; MRP2; KIAA1010; CMOAT; ABC30; cMRP Extracellular matrix -> Extracellular matrix structural protein Cell adhesion;Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_137533 ILMN_42782 COL5A2 NM_000393.3 NM_000393.3 1290 89363016 NM_000393.3 COL5A2 NP_000384.2 ILMN_1729117 4490292 S 6066 GAGCATCGTTCCAATGCTTGTTCACTGTTCCTCTGTCATACTGTATCTGG 2 - 189605700-189605749 2q32.2a "Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA." Any of the various assemblies in which collagen chains form a left-handed triple helix; may assemble into higher order structures [goid 5581] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; Any of the various assemblies in which collagen chains form a left-handed triple helix; may assemble into higher order structures [goid 5581] [evidence IEA]; A collagen heterotrimer containing type V alpha chains; [alpha1(V)]2alpha2(V) and alpha1(V)alpha2(V)alpha3(V) trimers have been observed; type V collagen triple helices associate to form fibrils [goid 5588] [pmid 9425231] [evidence TAS] "Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix [goid 30199] [evidence ISS]; The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue [goid 43588] [evidence ISS]" The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [evidence IEA]; The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [evidence IEA] MGC105115 MGC105115 Miscellaneous function -> Structural protein Muscle contraction;Sensory perception -> Vision Homo sapiens RefSeq ILMN_22197 ILMN_22197 CRYAA NM_000394.2 NM_000394.2 1409 14043059 NM_000394.2 CRYAA NP_000385.1 ILMN_1711015 6510068 S 1013 ACCGTCTTCCTCCAACCCCTCTATGTAGTGCCGCTCTTGGGGACATGGGT 21 + 43465881-43465930 21q22.3c "Homo sapiens crystallin, alpha A (CRYAA), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 14752512] [evidence IDA]" "The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure [goid 6457] [pmid 10217480] [evidence NAS]; A process which directly inhibits any of the steps required for cell death by apoptosis [goid 6916] [pmid 14752512] [evidence IDA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 14512969] [evidence IMP]; Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances within cells [goid 32387] [pmid 14752512] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" The action of a molecule that contributes to the structural integrity of the lens of an eye [goid 5212] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 14752512] [evidence IPI]; The action of a molecule that contributes to the structural integrity of the lens of an eye [goid 5212] [evidence IEA] HSPB4; CRYA1 HSPB4; CRYA1 Receptor -> Cytokine receptor -> Interleukin receptor Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway Homo sapiens RefSeq ILMN_5898 ILMN_5898 CSF2RB NM_000395.1 NM_000395.1 1439 4559407 NM_000395.1 CSF2RB NP_000386.1 ILMN_1798475 3450349 S 2756 AGGGCTTGCCTTCCCTCCCGCCTGACCTTCCTCAGTCATTTCTGCAAAGC 22 + 35664524-35664573 22q12.3d "Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The heterodimeric receptor for granulocyte macrophage colony-stimulating factor [goid 30526] [pmid 9410898] [evidence TAS]" "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 1702217] [evidence NAS]; The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms [goid 7585] [pmid 9410898] [evidence TAS]; Any series of molecular signals generated as a consequence of a cytokine or chemokine binding to a cell surface receptor [goid 19221] [evidence IEA]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [pmid 9410898] [evidence TAS]; Combining with interleukin-3 to initiate a change in cell activity [goid 4912] [pmid 9410898] [evidence TAS]; Combining with interleukin-5 to initiate a change in cell activity [goid 4914] [pmid 9410898] [evidence TAS] IL3RB; CDw131; CD131; IL5RB IL3RB; CDw131; CD131; IL5RB Protease -> Cysteine protease Protein metabolism and modification -> Proteolysis;Homeostasis -> Other homeostasis activities Homo sapiens RefSeq ILMN_16923 ILMN_16923 CTSK NM_000396.2 NM_000396.2 1513 23110958 NM_000396.2 CTSK NP_000387.1 ILMN_1758895 1430278 S 1352 AGGCTAAGAGATGTGACTACAGCCTGCCCCTGACTGTGTTGTCCCAGGGC 1 - 149035611-149035660 1q21.2c "Homo sapiens cathepsin K (CTSK), mRNA." "A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]" The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 7818555] [evidence TAS] "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile [goid 4197] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile [goid 4197] [pmid 9143502] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17889653] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" CTSO2; CTSO; CTSO1; PKND; CTS02; PYCD; MGC23107 CTSO2; CTSO; CTSO1; PKND; CTS02; PYCD; MGC23107 Oxidoreductase Biological process unclassified Homo sapiens RefSeq ILMN_13274 ILMN_13274 CYBB NM_000397.2 NM_000397.2 1536 6996020 NM_000397.2 CYBB NP_000388.2 ILMN_1682312 840168 S 3955 GTTTCCTTTTTATCTCTCAAGCCACCAGCTGCCAGCCACCACGAGCCAGC X + 37557345-37557394 Xp11.4e "Homo sapiens cytochrome b-245, beta polypeptide (chronic granulomatous disease) (CYBB), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2 [goid 43020] [pmid 3305576] [evidence IDA]; A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2 [goid 43020] [pmid 12716910] [evidence TAS]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 7719350] [evidence TAS]; A process whereby a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient [goid 22900] [evidence IEA]; The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways [goid 42554] [pmid 12042318] [evidence IDA]; The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways [goid 42554] [pmid 12716910] [evidence TAS]; Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens [goid 45087] [pmid 12716910] [evidence TAS]; Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens [goid 45087] [pmid 9774399] [evidence IMP]; A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals [goid 45730] [pmid 9774399] [evidence IMP]; A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals [goid 45730] [pmid 12716910] [evidence TAS]" "Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 3305576] [evidence IPI]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2- [goid 16175] [pmid 12042318] [evidence IDA]; Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2- [goid 16175] [pmid 12716910] [evidence TAS]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [pmid 9774399] [evidence IMP]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 12042318] [evidence IPI]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [evidence IEA]" GP91PHOX; NOX2; CGD; GP91-PHOX; GP91-1 CGD; GP91-PHOX; GP91PHOX; NOX2; GP91-1 Oxidoreductase -> Reductase Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Fatty acid desaturation;Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Cholesterol metabolism;Electron transport -> Other pathways of electron transport Homo sapiens RefSeq ILMN_15776 ILMN_16364 CYB5R3 NM_000398.4 NM_000398.4 1727 70908370 NM_000398.4 CYB5R3 NP_000389.1 ILMN_1740441 4260010 A 1585 GGGCCCTCCCAGAACCTCAGCATTTCCTTCCAGCCCATCCAAACACTGAG 22 - 41345078-41345127 22q13.2b "Homo sapiens cytochrome b5 reductase 3 (CYB5R3), transcript variant M, mRNA." "The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9207238] [evidence TAS]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope [goid 5741] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; An iron-containing, oxygen carrying complex. In vertebrates it is made up of two pairs of associated globin polypeptide chains, each chain carrying a noncovalently bound heme prosthetic group [goid 5833] [pmid 1400360] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [pmid 9207238] [evidence TAS]" "The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 6695] [evidence IEA]; The flow of blood through the body of an animal, enabling the transport of O2 and nutrients to the tissues and the removal of waste products [goid 8015] [pmid 1400360] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the reaction: NADH + H+ + 2 ferricytochrome b(5) = NAD+ + 2 ferrocytochrome b(5) [goid 4128] [pmid 1400360] [evidence TAS]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]" DIA1; B5R DIA1; B5R Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor;Nucleic acid binding Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Ectoderm development -> Neurogenesis Homo sapiens RefSeq ILMN_10721 ILMN_10721 EGR2 NM_000399.2 NM_000399.2 1959 9845523 NM_000399.2 EGR2 NP_000390.2 ILMN_1743199 6020255 S 2602 GCATGCAATTGTGTTGGAAGTGTCCTTGGTCGCCTTGTGTGATGTAGACA 10 - 64242090-64242139 10q21.2b "Homo sapiens early growth response 2 (Krox-20 homolog, Drosophila) (EGR2), mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]" "The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [pmid 9537424] [evidence TAS]; The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands [goid 7422] [pmid 9537424] [evidence TAS]; Behavior that is dependent upon the sensation of a mechanical stimulus [goid 7638] [evidence IEA]" The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 14532282] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 14532282] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA] KROX20; FLJ14547; DKFZp686J1957; CMT4E; CMT1D KROX20; FLJ14547; DKFZp686J1957; CMT4E; CMT1D Nucleic acid binding -> Helicase -> DNA helicase Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair;Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription;Oncogenesis Homo sapiens RefSeq ILMN_21902 ILMN_21902 ERCC2 NM_000400.2 NM_000400.2 2068 40068510 NM_000400.2 ERCC2 NP_000391.1 ILMN_1815859 4260435 S 2183 AAGTACTTCCTGCGGCAGATGGCACAGCCCTTCCACCGGGAGGATCAGCT 19 - 50546808-50546819:50547307-50547344 19q13.32a "Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) (ERCC2), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9512541] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10214908] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12393749] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12646563] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 1939271] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 2449431] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 8946909] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9582279] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9790902] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11313499] [evidence EXP]; A complex that contains kinase activity directed towards the C-terminal Domain (CTD) of the largest subunit of RNA polymerase II and is essential for initiation at RNA polymerase II promoters in vitro. In S. cerevisiae, it is composed of the 5-subunit core (Rad3p, Tfb1p, Tfb2p, Ssl1p and Tfb4p), Ssl2p, and TFIIK (Kin28p, Ccl1p, and Tfb3p). All of the subunits have equivalents in humans: the 5 subunit core is composed of XPD, p62, p55, p44, p34; the equivalent of the TFIIK subcomplex is composed of MO15, Mat1, and a cyclin; the human equivalent of Ssl2p is XPB [goid 5675] [pmid 7663514] [evidence TAS]; A protein complex that phosphorylates cyclin-dependent kinases such as Cdc2 on Thr161 (or an equivalent residue); contains a catalytic subunit and a regulatory subunit, and some examples also include an assembly factor [goid 19907] [pmid 8692842] [evidence IDA]; A protein complex that phosphorylates cyclin-dependent kinases such as Cdc2 on Thr161 (or an equivalent residue); contains a catalytic subunit and a regulatory subunit, and some examples also include an assembly factor [goid 19907] [pmid 11445587] [evidence IDA]" "The chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids [goid 6139] [evidence IEA]; In nucleotide excision repair a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts) [goid 6289] [evidence IEA]; The chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids [goid 6139] [evidence IEA]; In nucleotide excision repair a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts) [goid 6289] [evidence IEA]; The chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids [goid 6139] [evidence IEA]; In nucleotide excision repair a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts) [goid 6289] [evidence IEA]; A point in the eukaryotic cell cycle where progress through the cycle can be halted until conditions are suitable for the cell to proceed to the next stage [goid 75] [pmid 17088560] [evidence IMP]; The removal of the oligonucleotide that contains the DNA damage. The oligonucleotide is formed by dual incisions that flank the site of DNA damage [goid 718] [pmid 10583946] [evidence EXP]; The preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the general nucleotide excision repair pathway [goid 6283] [pmid 8663148] [evidence IDA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process involved in starting transcription from the RNA polymerase II promoter [goid 6367] [pmid 8946909] [evidence EXP]; The extension of an RNA molecule after transcription initiation at an RNA polymerase II-specific promoter by the addition of ribonucleotides catalyzed by RNA polymerase II [goid 6368] [pmid 9405375] [evidence EXP]; A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [pmid 8675009] [evidence IMP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [pmid 17614221] [evidence IMP]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; Any process by which an organism or cell protects itself from ultraviolet radiation (UV), which may also result in resistance to repeated exposure to UV [goid 9650] [pmid 2835663] [evidence IGI]; A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound [goid 33683] [pmid 8692841] [evidence IMP]; The process whereby a relatively unspecialized cell acquires specialized features of a hair cell [goid 35315] [pmid 11335038] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [pmid 8692841] [evidence IDA]" "Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate, driving the unwinding of the DNA helix [goid 4003] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the hydrolysis of any acid anhydride which contains phosphorus [goid 16818] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate, driving the unwinding of the DNA helix [goid 4003] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the hydrolysis of any acid anhydride which contains phosphorus [goid 16818] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate, driving the unwinding of the DNA helix [goid 4003] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the hydrolysis of any acid anhydride which contains phosphorus [goid 16818] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate, driving the unwinding of the DNA helix [goid 4003] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 10801852] [evidence IPI]; Any transcription regulator activity required for initiation or upregulation of transcription [goid 16563] [pmid 8692842] [evidence IDA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of any acid anhydride which contains phosphorus [goid 16818] [evidence IEA]; Catalysis of the unwinding of the DNA helix in the direction 5' to 3' [goid 43139] [pmid 11445587] [evidence IDA]; Catalysis of the unwinding of the DNA helix in the direction 5' to 3' [goid 43139] [pmid 8663148] [evidence IDA]; Interacting selectively with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 47485] [pmid 8652557] [evidence IPI]" COFS2; EM9; TTD; MGC126218; MGC126219; XPD; MGC102762 COFS2; XPD; MGC102762; EM9; TTD; MGC126218; MGC126219 Transferase -> Glycosyltransferase Carbohydrate metabolism -> Other polysaccharide metabolism;Protein metabolism and modification -> Protein modification -> Protein glycosylation Homo sapiens RefSeq ILMN_16578 ILMN_16578 EXT2 NM_000401.2 NM_000401.2 2132 46370067 NM_000401.2 EXT2 NP_000392.2 ILMN_1679698 1980168 I 362 CCTGCGGCATCCCTTGCGGTGCCAGAAGCCGTGGGACGAGTGTCTTTAAT 11 + 44074408-44074447:44081816-44081825 11p11.2e "Homo sapiens exostoses (multiple) 2 (EXT2), transcript variant 1, mRNA." "The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [pmid 10639137] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance [goid 1503] [pmid 9326317] [evidence IMP]; The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars [goid 6024] [pmid 12907669] [evidence IDA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10878610] [evidence TAS]; The chemical reactions and pathways resulting in the formation of polysaccharide chain component of heparan sulfate proteoglycan [goid 15014] [pmid 17761672] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]" "Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]; Catalysis of the reaction: UDP-N-acetyl-D-glucosamine + heparan sulfate = UDP + (N-acetyl-D-glucosaminyl)-heparan sulfate [goid 42328] [pmid 12907669] [evidence NAS]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 12907669] [evidence IDA]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 12907669] [evidence IPI]; Catalysis of the reaction: beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan + UDP-N-acetyl-D-glucosamine = N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan + UDP [goid 50508] [evidence IEA]; Catalysis of the reaction: N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-proteoglycan + UDP-alpha-D-glucuronate = beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-proteoglycan + UDP [goid 50509] [evidence IEA]" SOTV SOTV Transferase -> Glycosyltransferase Carbohydrate metabolism -> Other polysaccharide metabolism;Protein metabolism and modification -> Protein modification -> Protein glycosylation Homo sapiens RefSeq ILMN_16578 ILMN_16578 EXT2 NM_000401.2 NM_000401.2 2132 46370067 NM_000401.2 EXT2 NP_000392.2 ILMN_1761259 6620682 A 3582 AGGAGTCGCTCTAGCTGGTACCCGTAAAAGTTGTGGGAATTGTGACCCCC 11 + 44223351-44223400 11p11.2e "Homo sapiens exostoses (multiple) 2 (EXT2), transcript variant 1, mRNA." "The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [pmid 10639137] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance [goid 1503] [pmid 9326317] [evidence IMP]; The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars [goid 6024] [pmid 12907669] [evidence IDA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10878610] [evidence TAS]; The chemical reactions and pathways resulting in the formation of polysaccharide chain component of heparan sulfate proteoglycan [goid 15014] [pmid 17761672] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]" "Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]; Catalysis of the reaction: UDP-N-acetyl-D-glucosamine + heparan sulfate = UDP + (N-acetyl-D-glucosaminyl)-heparan sulfate [goid 42328] [pmid 12907669] [evidence NAS]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 12907669] [evidence IDA]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 12907669] [evidence IPI]; Catalysis of the reaction: beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan + UDP-N-acetyl-D-glucosamine = N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan + UDP [goid 50508] [evidence IEA]; Catalysis of the reaction: N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-proteoglycan + UDP-alpha-D-glucuronate = beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-proteoglycan + UDP [goid 50509] [evidence IEA]" SOTV SOTV Oxidoreductase -> Dehydrogenase Carbohydrate metabolism -> Monosaccharide metabolism Homo sapiens RefSeq ILMN_1761 ILMN_162326 G6PD NM_000402.3 NM_000402.3 2539 108773794 NM_000402.3 G6PD NP_000393.4 ILMN_1697559 430465 S 2069 CCCATTCGTCTGTCCCAGAGCTTATTGGCCACTGGGTCTCACTCCTGAGT X - 153413076-153413125 Xq28g "Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 1, mRNA." "The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11256614] [evidence IDA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 18029348] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 5666113] [evidence EXP]; Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane [goid 43231] [pmid 18029348] [evidence IDA]" "The decrease in blood vessel diameter as a result of the release of angiotensin into the blood stream [goid 1998] [evidence IEA]; The process that increases the size of a blood vessel via the renin-angiotensin system [goid 2033] [evidence IEA]; The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides [goid 6006] [evidence IEA]; The chemical reactions and pathways resulting in the formation of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; biosynthesis may be of either the oxidized form, NADP, or the reduced form, NADPH [goid 6741] [evidence IEA]; The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle [goid 6749] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a pentose, any monosaccharide with a chain of five carbon atoms in the molecule [goid 19322] [evidence IEA]; The appearance of interleukin-10 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels [goid 32613] [evidence IEA]; The appearance of interleukin-12 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels [goid 32615] [evidence IEA]; Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size [goid 40014] [evidence IEA]; The process aimed at the progression of an erythrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell [goid 48821] [evidence IEA]; The decrease in blood vessel diameter as a result of the release of angiotensin into the blood stream [goid 1998] [evidence IEA]; The process that increases the size of a blood vessel via the renin-angiotensin system [goid 2033] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides [goid 6006] [evidence IEA]; [goid 6010] [pmid 2836867] [evidence TAS]; The process by which glucose is oxidized, coupled to NADPH synthesis. Glucose 6-P is oxidized with the formation of carbon dioxide (CO2), ribulose 5-phosphate and reduced NADP; ribulose 5-P then enters a series of reactions interconverting sugar phosphates. The pentose phosphate pathway is a major source of reducing equivalents for biosynthesis reactions and is also important for the conversion of hexoses to pentoses [goid 6098] [evidence NAS]; The chemical reactions and pathways resulting in the formation of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; biosynthesis may be of either the oxidized form, NADP, or the reduced form, NADPH [goid 6741] [evidence IEA]; The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle [goid 6749] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a pentose, any monosaccharide with a chain of five carbon atoms in the molecule [goid 19322] [evidence IEA]; The appearance of interleukin-10 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels [goid 32613] [evidence IEA]; The appearance of interleukin-12 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels [goid 32615] [evidence IEA]; Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size [goid 40014] [evidence IEA]; The process aimed at the progression of an erythrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell [goid 48821] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ [goid 4345] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [evidence IEA]; Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ [goid 4345] [pmid 8466644] [evidence NAS]; Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ [goid 4345] [pmid 5666113] [evidence EXP]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [evidence IEA]" G6PD1 G6PD1 Oxidoreductase -> Dehydrogenase Carbohydrate metabolism -> Monosaccharide metabolism Homo sapiens RefSeq ILMN_162326 ILMN_162326 G6PD NM_000402.3 NM_000402.3 2539 108773794 NM_000402.3 G6PD NP_000393.4 ILMN_2261122 6520095 I 144 ATTAAATGGGCCGGCGGGGCTCAGCCCCCGGAAACGGTCGTACACTTCGG X - 153428234-153428279:153428280-153428283 Xq28g "Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 1, mRNA." "The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11256614] [evidence IDA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 18029348] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 5666113] [evidence EXP]; Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane [goid 43231] [pmid 18029348] [evidence IDA]" "The decrease in blood vessel diameter as a result of the release of angiotensin into the blood stream [goid 1998] [evidence IEA]; The process that increases the size of a blood vessel via the renin-angiotensin system [goid 2033] [evidence IEA]; The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides [goid 6006] [evidence IEA]; The chemical reactions and pathways resulting in the formation of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; biosynthesis may be of either the oxidized form, NADP, or the reduced form, NADPH [goid 6741] [evidence IEA]; The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle [goid 6749] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a pentose, any monosaccharide with a chain of five carbon atoms in the molecule [goid 19322] [evidence IEA]; The appearance of interleukin-10 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels [goid 32613] [evidence IEA]; The appearance of interleukin-12 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels [goid 32615] [evidence IEA]; Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size [goid 40014] [evidence IEA]; The process aimed at the progression of an erythrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell [goid 48821] [evidence IEA]; The decrease in blood vessel diameter as a result of the release of angiotensin into the blood stream [goid 1998] [evidence IEA]; The process that increases the size of a blood vessel via the renin-angiotensin system [goid 2033] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides [goid 6006] [evidence IEA]; [goid 6010] [pmid 2836867] [evidence TAS]; The process by which glucose is oxidized, coupled to NADPH synthesis. Glucose 6-P is oxidized with the formation of carbon dioxide (CO2), ribulose 5-phosphate and reduced NADP; ribulose 5-P then enters a series of reactions interconverting sugar phosphates. The pentose phosphate pathway is a major source of reducing equivalents for biosynthesis reactions and is also important for the conversion of hexoses to pentoses [goid 6098] [evidence NAS]; The chemical reactions and pathways resulting in the formation of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; biosynthesis may be of either the oxidized form, NADP, or the reduced form, NADPH [goid 6741] [evidence IEA]; The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle [goid 6749] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a pentose, any monosaccharide with a chain of five carbon atoms in the molecule [goid 19322] [evidence IEA]; The appearance of interleukin-10 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels [goid 32613] [evidence IEA]; The appearance of interleukin-12 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels [goid 32615] [evidence IEA]; Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size [goid 40014] [evidence IEA]; The process aimed at the progression of an erythrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell [goid 48821] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ [goid 4345] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [evidence IEA]; Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ [goid 4345] [pmid 8466644] [evidence NAS]; Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ [goid 4345] [pmid 5666113] [evidence EXP]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [evidence IEA]" G6PD1 G6PD1 Oxidoreductase -> Dehydrogenase Carbohydrate metabolism -> Monosaccharide metabolism Homo sapiens RefSeq ILMN_162326 ILMN_162326 G6PD NM_000402.3 NM_000402.3 2539 108773794 NM_000402.3 G6PD NP_000393.4 ILMN_2347949 4200450 A 2342 GCAGCTGGGACCCCTCCCAACCTCAATGCCCTGCCATTAAATCCGCAAAC X - 153412803-153412852 Xq28g "Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 1, mRNA." "The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11256614] [evidence IDA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 18029348] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 5666113] [evidence EXP]; Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane [goid 43231] [pmid 18029348] [evidence IDA]" "The decrease in blood vessel diameter as a result of the release of angiotensin into the blood stream [goid 1998] [evidence IEA]; The process that increases the size of a blood vessel via the renin-angiotensin system [goid 2033] [evidence IEA]; The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides [goid 6006] [evidence IEA]; The chemical reactions and pathways resulting in the formation of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; biosynthesis may be of either the oxidized form, NADP, or the reduced form, NADPH [goid 6741] [evidence IEA]; The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle [goid 6749] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a pentose, any monosaccharide with a chain of five carbon atoms in the molecule [goid 19322] [evidence IEA]; The appearance of interleukin-10 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels [goid 32613] [evidence IEA]; The appearance of interleukin-12 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels [goid 32615] [evidence IEA]; Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size [goid 40014] [evidence IEA]; The process aimed at the progression of an erythrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell [goid 48821] [evidence IEA]; The decrease in blood vessel diameter as a result of the release of angiotensin into the blood stream [goid 1998] [evidence IEA]; The process that increases the size of a blood vessel via the renin-angiotensin system [goid 2033] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides [goid 6006] [evidence IEA]; [goid 6010] [pmid 2836867] [evidence TAS]; The process by which glucose is oxidized, coupled to NADPH synthesis. Glucose 6-P is oxidized with the formation of carbon dioxide (CO2), ribulose 5-phosphate and reduced NADP; ribulose 5-P then enters a series of reactions interconverting sugar phosphates. The pentose phosphate pathway is a major source of reducing equivalents for biosynthesis reactions and is also important for the conversion of hexoses to pentoses [goid 6098] [evidence NAS]; The chemical reactions and pathways resulting in the formation of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; biosynthesis may be of either the oxidized form, NADP, or the reduced form, NADPH [goid 6741] [evidence IEA]; The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle [goid 6749] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a pentose, any monosaccharide with a chain of five carbon atoms in the molecule [goid 19322] [evidence IEA]; The appearance of interleukin-10 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels [goid 32613] [evidence IEA]; The appearance of interleukin-12 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels [goid 32615] [evidence IEA]; Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size [goid 40014] [evidence IEA]; The process aimed at the progression of an erythrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell [goid 48821] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ [goid 4345] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [evidence IEA]; Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ [goid 4345] [pmid 8466644] [evidence NAS]; Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+ [goid 4345] [pmid 5666113] [evidence EXP]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [evidence IEA]" G6PD1 G6PD1 Lyase -> Dehydratase;Isomerase -> Epimerase/racemase Carbohydrate metabolism Homo sapiens RefSeq ILMN_24324 ILMN_24324 GALE NM_000403.3 NM_000403.3 2582 56237022 NM_000403.3 GALE NP_000394.2 ILMN_1792168 6980162 A 1431 GGCCAAGGGCTCCACTGACCAGGAGGCCGAGGTCTCTAACTCTTATCTTC 1 - 23994826-23994875 1p36.11d "Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 15175331] [evidence EXP]" "The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]; The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]; The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]; The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]; The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with a coenzyme, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed [goid 50662] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with a coenzyme, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed [goid 50662] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with a coenzyme, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed [goid 50662] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with a coenzyme, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed [goid 50662] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with a coenzyme, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed [goid 50662] [evidence IEA]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [pmid 15175331] [evidence TAS]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [pmid 15175331] [evidence EXP]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5 [goid 16853] [evidence IEA]; Interacting selectively with a coenzyme, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed [goid 50662] [evidence IEA]" Lyase -> Dehydratase;Isomerase -> Epimerase/racemase Carbohydrate metabolism Homo sapiens RefSeq ILMN_24324 ILMN_24324 GALE NM_000403.3 NM_000403.3 2582 56237022 NM_000403.3 GALE NP_000394.2 ILMN_1777523 7160368 I 70 GACCCAGCCGCCCTCGTATGCCCACGGCCTAGCTCCCCTTCCCTCCAACA 1 - 23999502-23999551 1p36.11d "Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 15175331] [evidence EXP]" "The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]; The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]; The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]; The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]; The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose [goid 6012] [evidence IEA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with a coenzyme, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed [goid 50662] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with a coenzyme, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed [goid 50662] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with a coenzyme, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed [goid 50662] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with a coenzyme, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed [goid 50662] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with a coenzyme, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed [goid 50662] [evidence IEA]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [pmid 15175331] [evidence TAS]; Catalysis of the reaction: UDP-glucose = UDP-galactose [goid 3978] [pmid 15175331] [evidence EXP]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5 [goid 16853] [evidence IEA]; Interacting selectively with a coenzyme, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed [goid 50662] [evidence IEA]" Hydrolase -> Galactosidase Carbohydrate metabolism -> Disaccharide metabolism Homo sapiens RefSeq ILMN_23626 ILMN_23626 GLB1 NM_000404.1 NM_000404.1 2720 10834965 NM_000404.1 GLB1 NP_000395.1 ILMN_1735155 4560064 S 2206 TGTGCATTTTCACCTGAGGTTTCCCTGCATCCCTGCAGTGCCAAAGCCCC 3 - 33013372-33013421 3p22.3c "Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 179423, mRNA." "A multimeric enzyme complex that in E. coli is a heterooctamer made up of four alpha subunits and four beta subunits. Catalyzes the hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides [goid 9341] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]; A multimeric enzyme complex that in E. coli is a heterooctamer made up of four alpha subunits and four beta subunits. Catalyzes the hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides [goid 9341] [evidence IEA]" "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides [goid 4565] [evidence IEA]; Catalysis of the hydrolysis of any glycosyl bond [goid 16798] [evidence IEA]; Interacting selectively with cations, charged atoms or groups of atoms with a net positive charge [goid 43169] [evidence IEA]; Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides [goid 4565] [pmid 3143362] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the hydrolysis of any glycosyl bond [goid 16798] [evidence IEA]; Interacting selectively with cations, charged atoms or groups of atoms with a net positive charge [goid 43169] [evidence IEA]" Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_8836 ILMN_8836 GM2A NM_000405.3 NM_000405.3 2760 39995108 NM_000405.3 GM2A NP_000396.2 ILMN_2221046 4280273 S 1841 GGGTGGCAAGGACTGGAGTCAGTTGGAGAGTGCATAGCCAGTCTGTGAAG 5 + 150628330-150628379 5q33.1d "Homo sapiens GM2 ganglioside activator (GM2A), mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence NAS]" "The chemical reactions and pathways resulting in the breakdown of ganglioside, a ceramide oligosaccharide carrying, in addition to other sugar residues, one or more sialic residues [goid 6689] [evidence IEA]; The acquisition and processing of information and/or the storage and retrieval of this information over time [goid 7611] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages [goid 9313] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of glycolipid, a compound containing (usually) 1-4 linked monosaccharide residues joined by a glycosyl linkage to a lipid [goid 19377] [evidence NAS]; The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development [goid 19915] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid) [goid 30149] [evidence NAS]; A organ system process carried out by any of the organs or tissues of neurological system [goid 50877] [evidence IEA]; Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors [goid 50885] [evidence IEA]" "Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides [goid 4563] [evidence IEA]; Any of a group of peptide cofactors of enzymes for the lysosomal degradation of sphingolipids. They stimulate various enzymes, including glucosylceramidase, galactosylceramidase, cerebroside-sulfatase, alpha-galactosidase, beta-galactosidase, and sphingomyelin phosphodiesterase [goid 30290] [evidence NAS]" SAP-3 SAP-3 Oxidoreductase -> Dehydrogenase Carbohydrate metabolism -> Monosaccharide metabolism;Lipid, fatty acid and steroid metabolism -> Lipid metabolism;Electron transport;Coenzyme and prosthetic group metabolism -> Coenzyme metabolism;Coenzyme and prosthetic group metabolism -> Vitamin metabolism Homo sapiens RefSeq ILMN_9672 ILMN_9672 GPD2 NM_000408.2 NM_000408.2 2820 50811881 NM_000408.2 GPD2 NP_000399.1 ILMN_2105643 5700433 S 2366 CCAGAGATGACTGAAACCACTCTGAAATAATGAATGTGGATAGCTGCCTT 2 + 157147737-157147786 2q24.1c "Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; An enzyme complex that catalyzes the dehydrogenation of sn-glycerol 3-phosphate to form glycerone phosphate [goid 9331] [evidence IEA]" "The chemical reactions and pathways involving glycerol-3-phosphate, a phosphoric monoester of glycerol [goid 6072] [evidence IEA]; The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol [goid 6094] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: sn-glycerol 3-phosphate + acceptor = glycerone phosphate + reduced acceptor [goid 4368] [pmid 9070847] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 9070847] [evidence TAS]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]" mGPDH; GDH2 mGPDH; GDH2 Select regulatory molecule -> G-protein modulator -> Other G-protein modulator;Select calcium binding protein -> Other select calcium binding proteins Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling Homo sapiens RefSeq ILMN_20254 ILMN_20254 GUCA1A NM_000409.2 NM_000409.2 2978 40254414 NM_000409.2 GUCA1A NP_000400.2 ILMN_1662086 4230139 S 1646 AGTGCTGCAATCACACATCCATTCTGCCCTGGGGGACCCTGGAGCCTACT 6 + 42255544-42255593 6p21.1f "Homo sapiens guanylate cyclase activator 1A (retina) (GUCA1A), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 7983048] [evidence NAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 9425234] [evidence TAS]; The sequence of reactions within a cell required to convert absorbed photons into a molecular signal [goid 7602] [evidence IEA]; Any process that modulates the frequency, rate or extent of guanylate cyclase activity [goid 31282] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; [goid 8048] [pmid 9425234] [evidence TAS]; Modulates the activity of guanylate cyclase [goid 30249] [evidence IEA] GUCA; GCAP1; GUCA1; GCAP; COD3 GUCA; GCAP1; GUCA1; GCAP; COD3 Defense/immunity protein -> Major histocompatibility complex antigen Immunity and defense -> T-cell mediated immunity -> MHCI-mediated immunity Homo sapiens RefSeq ILMN_175310 ILMN_175310 HFE NM_000410.3 NM_000410.3 3077 91718876 NM_000410.3 HFE NP_000401.1 ILMN_2302632 7400367 A 117 AAGAAGCGGAGATTTAACGGGGACGTGCGGCCAGAGCTGGGGAAATGGGC 6 + 26195604-26195647:26195648-26195653 6p22.1d "Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A transmembrane protein complex composed of a MHC class I alpha chain and an invariant beta2-microglobin chain, and with or without a bound peptide antigen. Class I here refers to classical class I molecules [goid 42612] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A transmembrane protein complex composed of a MHC class I alpha chain and an invariant beta2-microglobin chain, and with or without a bound peptide antigen. Class I here refers to classical class I molecules [goid 42612] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A transmembrane protein complex composed of a MHC class I alpha chain and an invariant beta2-microglobin chain, and with or without a bound peptide antigen. Class I here refers to classical class I molecules [goid 42612] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A transmembrane protein complex composed of a MHC class I alpha chain and an invariant beta2-microglobin chain, and with or without a bound peptide antigen. Class I here refers to classical class I molecules [goid 42612] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10085150] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10638746] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10638746] [evidence TAS]; A transmembrane protein complex composed of a MHC class I alpha chain and an invariant beta2-microglobin chain, and with or without a bound peptide antigen. Class I here refers to classical class I molecules [goid 42612] [evidence IEA]" "Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The process by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex [goid 19882] [evidence IEA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The process by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex [goid 19882] [evidence IEA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The process by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex [goid 19882] [evidence IEA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The process by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex [goid 19882] [evidence IEA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The process by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex [goid 19882] [evidence IEA]; The process by which an antigen-presenting cell expresses a peptide antigen on its cell surface in association with an MHC class I protein complex. Class I here refers to classical class I molecules [goid 2474] [evidence IEA]; The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 10638746] [evidence TAS]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of iron (Fe) ions into, out of, within or between cells [goid 6826] [pmid 10085150] [evidence TAS]; The regulation of the levels, transport, and metabolism of iron ions within a cell or between a cell and its external environment [goid 6879] [pmid 10638746] [evidence TAS]; The uptake of external materials by cells, utilizing receptors to ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles [goid 6898] [pmid 10085150] [evidence TAS]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The process by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex [goid 19882] [evidence IEA]" Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA] MGC103790; HFE1; HLA-H; HH; dJ221C16.10.1 MGC103790; HFE1; HLA-H; HH; dJ221C16.10.1 Ligase -> Other ligase Protein metabolism and modification -> Protein modification Homo sapiens RefSeq ILMN_2816 ILMN_2816 HLCS NM_000411.4 NM_000411.4 3141 46255044 NM_000411.4 HLCS NP_000402.3 ILMN_2191402 1850114 S 5638 GCAAGTCTACCAAAATAAACTAAGACTTTCTATGTGGTTTGGGCTCCCTC 21 - 37045348-37045397 21q22.13a "Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) (HLCS), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16780588] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]" "The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]" "Catalysis of the reaction: ATP + biotin + apo-(acetyl-CoA:carbon-dioxide ligase (ADP forming)) = AMP + diphosphate + (acetyl-CoA:carbon-dioxide ligase (ADP forming)) [goid 4077] [evidence IEA]; Catalysis of the reaction: ATP + biotin + apo-(3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)) = AMP + diphosphate + (3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)) [goid 4078] [evidence IEA]; Catalysis of the reaction: ATP + biotin + apo-(methylmalonyl-CoA:pyruvate carboxytransferase) = AMP + diphosphate + (methylmalonyl-CoA:pyruvate carboxytransferase) [goid 4079] [evidence IEA]; Catalysis of the reaction: ATP + biotin + apo-(propanoyl-CoA:carbon-dioxide ligase (ADP-forming)) = AMP + diphosphate + (propanoyl-CoA:carbon-dioxide ligase (ADP-forming)) [goid 4080] [pmid 7842009] [evidence TAS]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]" HCS HCS Miscellaneous function -> Other miscellaneous function protein Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_17942 ILMN_17942 HRG NM_000412.2 NM_000412.2 3273 13518024 NM_000412.2 HRG NP_000403.1 ILMN_2193936 940538 S 1744 GGCCTGAGAAGAGAGATCAAATGGAAAGGAGAGGAAAGAACTCAGTGCTG 3 + 187878509-187878558 3q27.3a "Homo sapiens histidine-rich glycoprotein (HRG), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 6414553] [evidence EXP]; The volume enclosed by the membrane of the platelet alpha granule [goid 31093] [pmid 6414553] [evidence EXP] " [goid 4869] [evidence IEA]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [evidence IEA]" HRGP; DKFZp779H1622; HPRG HRGP; DKFZp779H1622; HPRG Oxidoreductase -> Dehydrogenase;Oxidoreductase -> Reductase Lipid, fatty acid and steroid metabolism -> Steroid metabolism Homo sapiens RefSeq ILMN_21269 ILMN_21269 HSD17B1 NM_000413.1 NM_000413.1 3292 4504500 NM_000413.1 HSD17B1 NP_000404.1 ILMN_1773623 3610129 S 2037 GCTGTGGGTGGCTAATTAAGATAGATCGCGTTAGCCAGTTTTACCAGCGC 17 + 37960564-37960613 17q21.31a "Homo sapiens hydroxysteroid (17-beta) dehydrogenase 1 (HSD17B1), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 8547176] [evidence TAS]" "The chemical reactions and pathways resulting in the formation of estrogens, C18 steroid hormones that can stimulate the development of female sexual characteristics. Also found in plants [goid 6703] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: estradiol-17-beta + NADP+ = estrone + NADPH + H+ [goid 4303] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]" EDHB17; HSD17; EDH17B2; MGC138140 MGC138140; EDHB17; HSD17; EDH17B2 Oxidoreductase -> Dehydrogenase;Oxidoreductase -> Reductase Lipid, fatty acid and steroid metabolism -> Steroid metabolism Homo sapiens RefSeq ILMN_23623 ILMN_23623 HSD17B4 NM_000414.1 NM_000414.1 3295 4504504 NM_000414.1 HSD17B4 NP_000405.1 ILMN_1673795 4220088 S 2169 GGCATTCTTTAGTGGCAGGCTGAAGGCCAGAGGGAACATCATGCTGAGCC 5 + 118900144-118900144:118905499-118905547 5q23.1c "Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 9880674] [evidence TAS]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 7487879] [evidence TAS]; The material contained within the membrane of a peroxisome; in many cells the matrix contains a crystalloid core largely composed of urate oxidase [goid 5782] [pmid 8902629] [evidence EXP]" "The chemical reactions and pathways involving fatty acids with a chain length of C18 or greater [goid 38] [evidence IEA]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The metabolic oxidation of a long-chain fatty acid by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A [goid 6635] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The process whose specific outcome is the progression of a Sertoli cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a Sertoli cell fate [goid 60009] [evidence IEA]" "Catalysis of the reaction: (S)-3-hydroxyacyl-CoA + NAD+ = 3-oxoacyl-CoA + NADH + H+ [goid 3857] [evidence IEA]; Catalysis of the reaction: (S)-3-hydroxyacyl-CoA + NAD+ = 3-oxoacyl-CoA + NADH + H+ [goid 3857] [pmid 8902629] [evidence EXP]; Catalysis of the reaction: estradiol-17-beta + NADP+ = estrone + NADPH + H+ [goid 4303] [pmid 9880674] [evidence TAS]; [goid 5498] [pmid 9880674] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17220478] [evidence IPI]; Enables the directed movement of sterols into, out of, within or between cells. Sterol are steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule [goid 15248] [pmid 7487879] [evidence TAS]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]; Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5 [goid 16853] [evidence IEA]; Catalysis of the reaction: (24R,25R)-3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestanoyl-CoA = (24E)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA + H2O [goid 33989] [evidence IEA]" MFE-2 MFE-2 Signaling molecule -> Peptide hormone Signal transduction -> Cell surface receptor mediated signal transduction;Apoptosis Homo sapiens RefSeq ILMN_30144 ILMN_30144 IAPP NM_000415.1 NM_000415.1 3375 4557654 NM_000415.1 IAPP NP_000406.1 ILMN_1679527 290717 S 1280 CTGCTTTGTATCCATGAGGGTTTCATTGTGTGTTAGCAGCAGTGAGCTTC 12 + 21423501-21423550 12p12.1e "Homo sapiens islet amyloid polypeptide (IAPP), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [pmid 2608057] [evidence TAS]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [evidence IEA]" "A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [pmid 8152488] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10342886] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 2608057] [evidence TAS]; The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances [goid 19233] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell differentiation [goid 45596] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of bone resorption [goid 45779] [evidence IEA]" "The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [evidence IEA]" IAP; DAP; AMYLIN IAP; DAP; AMYLIN Receptor -> Cytokine receptor -> Interferon receptor Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Signal transduction -> Intracellular signaling cascade -> MAPKKK cascade;Signal transduction -> Intracellular signaling cascade -> JAK-STAT cascade;Signal transduction -> Cell communication -> Ligand-mediated signaling;Immunity and defense -> T-cell mediated immunity;Immunity and defense -> Macrophage-mediated immunity;Immunity and defense -> Interferon-mediated immunity Homo sapiens RefSeq ILMN_546 ILMN_546 IFNGR1 NM_000416.1 NM_000416.1 3459 4557879 NM_000416.1 IFNGR1 NP_000407.1 ILMN_1675939 2470358 S 1771 CGGAACATATCCAGTACTCCTGGTTCCTAGGTGAGCAGGTGATGCCCCAG 6 - 137560553-137560602 6q23.3c "Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2971451] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 2971451] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus [goid 9615] [pmid 2954953] [evidence TAS]" "Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity [goid 19955] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity [goid 19955] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity [goid 19955] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with interferon-gamma to initiate a change in cell activity. Interferon-gamma is also known as type II interferon [goid 4906] [pmid 2971451] [evidence TAS]; Interacting selectively with a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity [goid 19955] [evidence IEA]" CD119; IFNGR; FLJ45734 CD119; IFNGR; FLJ45734 Receptor -> Cytokine receptor -> Interleukin receptor Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Signal transduction -> Intracellular signaling cascade -> JAK-STAT cascade;Signal transduction -> Cell communication -> Ligand-mediated signaling;Immunity and defense -> T-cell mediated immunity Homo sapiens RefSeq ILMN_24627 ILMN_24627 IL2RA NM_000417.1 NM_000417.1 3559 4557666 NM_000417.1 IL2RA NP_000408.1 ILMN_2108699 4060221 S 2026 TCAGGCCTATAACCCCAGCTCCCTAGGAGACCAAGGCGGGAGCATCTCTT 10 - 6093742-6093791 10p15.1b-p15.1a "Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA." "The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2983318] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2467293] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The process of apoptosis in activated T cells [goid 6924] [evidence IEA]; Any process that activates or increases the rate or extent of activated T cell proliferation [goid 42104] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of T cell proliferation [goid 42130] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of cell death by apoptosis [goid 43065] [evidence IEA]; Any process that modulates the frequency, rate or extent of resting T cell proliferation [goid 46013] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the inflammatory response [goid 50728] [evidence IEA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [pmid 9096364] [evidence TAS]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 9096364] [evidence TAS]; Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [pmid 2983318] [evidence TAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 2983318] [evidence TAS]" Combining with interleukin-2 to initiate a change in cell activity [goid 4911] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with interleukin-2 to initiate a change in cell activity [goid 4911] [pmid 9096364] [evidence TAS]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA] CD25; IL2R; IDDM10; TCGFR IL2R; IDDM10; CD25; TCGFR Receptor -> Cytokine receptor -> Interleukin receptor Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Signal transduction -> Intracellular signaling cascade -> MAPKKK cascade;Signal transduction -> Intracellular signaling cascade -> JAK-STAT cascade;Signal transduction -> Cell communication -> Ligand-mediated signaling;Immunity and defense Homo sapiens RefSeq ILMN_17789 ILMN_17789 IL4R NM_000418.2 NM_000418.2 3566 56788409 NM_000418.2 IL4R NP_000409.1 ILMN_1652185 5910609 I 3461 TGTGGGCCGGGCAATCCAGACAGCAGGCATAAGGCACCAGTTACCCTGCA 16 + 27283393-27283442 16p12.1a "Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2307934] [evidence TAS] "Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 2307934] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 2307934] [evidence TAS]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; [goid 4896] [evidence IEA]; Combining with interleukin-4 to initiate a change in cell activity [goid 4913] [pmid 2307934] [evidence TAS]; [goid 5057] [pmid 2307934] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 8266078] [evidence IPI] IL4RA; CD124 IL4RA; CD124 Cell adhesion molecule -> Other cell adhesion molecule Cell adhesion Homo sapiens RefSeq ILMN_137597 ILMN_137597 ITGA2B NM_000419.2 NM_000419.2 3674 6006009 NM_000419.2 ITGA2B NP_000410.1 ILMN_1721888 5340468 S 2879 TCTGGATCAGTTTGTGCTGCAGTCGCACGCATGGTTCAACGTGTCCTCCC 17 - 39807599-39807648 17q21.31c "Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) (ITGA2B), mRNA." "A protein complex that is composed of one alpha subunit and one beta subunit, both of which are members of the integrin superfamily of cell adhesion receptors; the complex spans the plasma membrane and binds to extracellular matrix ligands, cell-surface ligands, and soluble ligands [goid 8305] [pmid 2444974] [evidence ISS]; Small region on the surface of a cell that anchors the cell to the extracellular matrix and that are points of termination of actin filaments [goid 5925] [evidence IEA]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3607284] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10605720] [evidence EXP]; Small region on the surface of a cell that anchors the cell to the extracellular matrix and that are points of termination of actin filaments [goid 5925] [evidence IEA]; A protein complex that is composed of one alpha subunit and one beta subunit, both of which are members of the integrin superfamily of cell adhesion receptors; the complex spans the plasma membrane and binds to extracellular matrix ligands, cell-surface ligands, and soluble ligands [goid 8305] [evidence IEA]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; The lipid bilayer surrounding the platelet alpha granule [goid 31092] [pmid 3607284] [evidence EXP]" "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 2444974] [evidence NAS]; A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug [goid 30168] [pmid 2444974] [evidence ISS]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 2439501] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 10429193] [evidence TAS]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [evidence IEA]; Any series of molecular signals generated as a consequence of an integrin binding to one of its physiological ligands [goid 7229] [evidence IEA]" Interacting selectively with a component of the extracellular matrix [goid 50840] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 15067009] [evidence IPI]; Interacting selectively with a component of the extracellular matrix [goid 50840] [evidence IEA] CD41B; HPA3; GP2B; CD41; GPIIb; GTA CD41B; HPA3; CD41; GPIIb; GP2B; GTA Protease -> Metalloprotease Protein metabolism and modification -> Proteolysis;Signal transduction -> Cell surface receptor mediated signal transduction;Signal transduction -> Cell communication;Blood circulation and gas exchange -> Regulation of vasoconstriction, dilation Homo sapiens RefSeq ILMN_15849 ILMN_15849 KEL NM_000420.2 NM_000420.2 3792 17025233 NM_000420.2 KEL NP_000411.1 ILMN_1738468 6040468 S 2329 AGCACCCCAGCCTTTGCCAGGTATTTCCGCTGTGCACGTGGTGCTCTCTT 7 - 142348491-142348540 7q34f "Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA." The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 1712490] [evidence TAS] "The posttranslational glycosylation of protein via the N4 atom of peptidyl-asparagine or the N1' atom peptidyl-tryptophan [goid 6487] [pmid 1712490] [evidence TAS]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; A decrease in the diameter of blood vessels, especially arteries, usually causing an increase in blood pressure [goid 42310] [pmid 15769748] [evidence TAS]" "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 4222] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 7737196] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" ECE3; CD238 ECE3; CD238 Cytoskeletal protein -> Intermediate filament;Miscellaneous function -> Structural protein Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_1890 ILMN_179036 KRT10 NM_000421.2 NM_000421.2 3858 40354191 NM_000421.2 KRT10 NP_000412.2 ILMN_1716093 5560682 S 1714 CTCCTCTTCCGGGTCCGTGGGCGAGTCTTCATCTAAGGGACCAAGATACT 17 - 36228255-36228260:36228565-36228608 17q21.2a "Homo sapiens keratin 10 (epidermolytic hyperkeratosis; keratosis palmaris et plantaris) (KRT10), mRNA." "A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins [goid 5882] [pmid 2459124] [evidence NAS]" "The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 1380725] [evidence TAS]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17373842] [evidence IPI]; The action of a molecule that contributes to the structural integrity of an epidermal cutaneous structure [goid 30280] [pmid 2459124] [evidence NAS] K10; KPP; CK10 K10; KPP; CK10 Cytoskeletal protein -> Intermediate filament;Miscellaneous function -> Structural protein Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_5566 ILMN_5566 KRT17 NM_000422.1 NM_000422.1 3872 4557700 NM_000422.1 KRT17 NP_000413.1 ILMN_1666845 3840445 S 1434 CCCCTGCTTCAGTCCCTTCCCCATGCTTCCTTGCCTGATGACAATAAAGC 17 - 37029235-37029284 17q21.2b "Homo sapiens keratin 17 (KRT17), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 18029348] [evidence IDA]; A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins [goid 5882] [pmid 1281771] [evidence TAS]" "The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 7539673] [evidence TAS]" The action of a molecule that contributes to the structural integrity of a cytoskeletal structure [goid 5200] [pmid 1281771] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16189514] [evidence IPI] PCHC1; K17; PC2; PC PCHC1; K17; PC2; PC Cytoskeletal protein -> Intermediate filament;Miscellaneous function -> Structural protein Developmental processes -> Ectoderm development;Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_10585 ILMN_10585 KRT2 NM_000423.2 NM_000423.2 3849 47132619 NM_000423.2 KRT2 NP_000414.2 ILMN_1669299 1240315 S 2176 GTGCTGTCTAGGTTTGTGCTTCTAGCCATGCCCATTCCCGCCCCCACCAT 12 - 51324797-51324846 12q13.13d "Homo sapiens keratin 2 (epidermal ichthyosis bullosa of Siemens) (KRT2), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 18029348] [evidence IDA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 18029348] [evidence IDA]; A filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. The keratins are the most diverse classes of IF proteins, with a large number of keratin isoforms being expressed. Each type of epithelium always expresses a characteristic combination of type I and type II keratins [goid 45095] [evidence IEA]" "The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 7524919] [evidence TAS]; The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns [goid 31424] [pmid 12598329] [evidence IDA]; A change in the morphology or behavior of a keratinocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. Upon activation, keratinocytes become migratory and hyperproliferative, and produce growth factors and cytokines [goid 32980] [pmid 12598329] [evidence IDA]; The multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. Keratinocytes are epidermal cells which synthesize keratin and undergo a characteristic change as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin [goid 43616] [pmid 12598329] [evidence IDA]; The directed movement of keratinocytes, epidermal cells which synthesize keratin, from one site to another [goid 51546] [pmid 15737202] [evidence IDA]" The action of a molecule that contributes to the structural integrity of a cytoskeletal structure [goid 5200] [pmid 1380918] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17373842] [evidence IPI] MGC116967; KRT2E; KRTE; MGC116968; KRT2A MGC116967; KRT2E; KRTE; MGC116968; KRT2A Cytoskeletal protein -> Intermediate filament;Miscellaneous function -> Structural protein Developmental processes -> Ectoderm development;Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_7654 ILMN_7654 KRT5 NM_000424.3 NM_000424.3 3852 119395753 NM_000424.3 KRT5 NP_000415.2 ILMN_1801632 5860289 S 2065 ACCACATTCTTTGGTTCCCAGGAGAGCCCCATTCCCAGCCCCTGGTCTCC 12 - 51194814-51194863 12q13.13d "Homo sapiens keratin 5 (KRT5), mRNA." "A filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. The keratins are the most diverse classes of IF proteins, with a large number of keratin isoforms being expressed. Each type of epithelium always expresses a characteristic combination of type I and type II keratins [goid 45095] [pmid 7679677] [evidence IDA]" "The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 7520042] [evidence TAS]" The action of a molecule that contributes to the structural integrity of a cytoskeletal structure [goid 5200] [pmid 7520042] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10727209] [evidence IPI] DDD; CK5; K5; EBS2; KRT5A K5; EBS2; DDD; KRT5A; CK5 Cell adhesion molecule -> CAM family adhesion molecule Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Cell adhesion;Developmental processes -> Ectoderm development -> Neurogenesis Homo sapiens RefSeq ILMN_8466 ILMN_181890 L1CAM NM_000425.2 NM_000425.2 3897 13435354 NM_000425.2 L1CAM NP_000416.1 ILMN_1739238 1230735 A 4418 GCTCCATACACACGCTGCCTTCGGTACCCACCACACAACATCCAAGTGGC X - 152780638-152780687 Xq28f "Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA." "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 7920659] [evidence NAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 1769655] [evidence TAS]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA] CAML1; S10; CD171; MIC5; HSAS1; SPG1; HSAS; MASA; N-CAML1 CAML1; S10; CD171; MIC5; HSAS1; SPG1; HSAS; MASA; N-CAML1 Extracellular matrix -> Extracellular matrix linker protein Signal transduction -> Cell communication -> Extracellular matrix protein-mediated signaling;Cell adhesion;Developmental processes Homo sapiens RefSeq ILMN_176689 ILMN_176689 LAMA2 NM_000426.3 NM_000426.3 3908 119466530 NM_000426.3 LAMA2 NP_000417.2 ILMN_2339266 1470296 A 9118 GCGGGCAGATTCACTGCTGTCTATGATGCTGGGGTTCCAGGGCATTTGTG 6 + 129877235-129877284 6q22.33d-q22.33e "Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA." "A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [evidence IEA]; A laminin complex composed of alpha1, beta1 and gamma1 polypeptide chains [goid 5606] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; A laminin complex composed of alpha1, beta1 and gamma1 polypeptide chains [goid 5606] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A thin sheet of proteoglycans and glycoproteins, especially laminin, secreted by cells as an extracellular matrix [goid 5605] [evidence IEA]; A laminin complex composed of alpha1, beta1 and gamma1 polypeptide chains [goid 5606] [evidence IEA]; The outer membrane of a muscle fiber, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers [goid 42383] [evidence IEA]" "Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix [goid 30155] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [evidence IEA]; Any process that modulates the frequency, rate or extent of embryonic development [goid 45995] [evidence IEA]; Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix [goid 30155] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [evidence IEA]; Any process that modulates the frequency, rate or extent of embryonic development [goid 45995] [evidence IEA]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 7550355] [evidence TAS]; Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix [goid 30155] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [evidence IEA]; Any process that activates, maintains or increases the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine [goid 32224] [evidence IEA]; Any process that modulates the frequency, rate or extent of embryonic development [goid 45995] [evidence IEA]" "Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [evidence IEA]; Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [evidence IEA]; Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 2185464] [evidence TAS]" LAMM LAMM Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_6861 ILMN_6861 LOR NM_000427.1 NM_000427.1 4014 4557724 NM_000427.1 LOR NP_000418.1 ILMN_1718387 4570239 S 1110 GCCATTGAGCTCTCCGGCTGCATCTAGTTCTGCTGTTTAGCCTCTTTGGT 1 + 151501126-151501175 1q21.3c "Homo sapiens loricrin (LOR), mRNA." "An insoluble protein structure formed under the plasma membrane of cornifying epithelial cells [goid 1533] [pmid 10908733] [evidence IDA]; That fraction of cells, prepared by disruptive biochemical methods, that is not soluble in water [goid 5626] [pmid 2007607] [evidence TAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The side of the plasma membrane that faces the cytoplasm [goid 9898] [evidence IEA]" "The formation of a covalent cross-link between or within protein chains [goid 18149] [pmid 10908733] [evidence IDA]; The process whereby a relatively unspecialized cell acquires specialized features of a keratinocyte [goid 30216] [pmid 10908733] [evidence IDA]; The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns [goid 31424] [evidence IEA]" "The action of a molecule that contributes to the structural integrity of a cytoskeletal structure [goid 5200] [pmid 2007607] [evidence TAS]; The action of a molecule that contributes to the structural integrity of an epidermal cutaneous structure [goid 30280] [evidence IEA]; Interacting selectively with two or more protein molecules, or a protein and another macromolecule or complex, simultaneously, thereby physically linking the bound proteins or complexes to each other [goid 30674] [pmid 10908733] [evidence IDA]" MGC111513 MGC111513 Transferase -> Nucleotidyltransferase Amino acid metabolism -> Other amino acid metabolism Homo sapiens RefSeq ILMN_15458 ILMN_183783 MAT1A NM_000429.2 NM_000429.2 4143 67906818 NM_000429.2 MAT1A NP_000420.1 ILMN_1767657 4050112 S 3081 GCCAGCATCTGGGCCTTGGCCTGGAGCACAAAGACCCTGGCTTTCATTTT 10 - 82021829-82021878 10q23.1a "Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA." "The chemical reactions and pathways involving compounds containing a single carbon atom [goid 6730] [evidence IEA]; The chemical reactions and pathways involving amino acids, organic acids containing one or more amino substituents [goid 6520] [pmid 1772450] [evidence TAS]; The chemical reactions and pathways involving compounds containing a single carbon atom [goid 6730] [evidence IEA]" "Catalysis of the reaction: ATP + L-methionine + H2O = phosphate + diphosphate + S-adenosyl-L-methionine [goid 4478] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + L-methionine + H2O = phosphate + diphosphate + S-adenosyl-L-methionine [goid 4478] [pmid 8314764] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]; Interacting selectively with a cobalt (Co) ion [goid 50897] [evidence IEA]" SAMS1; SAMS; MAT; MATA1 SAMS1; SAMS; MAT; MATA1 Hydrolase -> Esterase Developmental processes -> Ectoderm development -> Neurogenesis;Cell structure and motility Homo sapiens RefSeq ILMN_18064 ILMN_162675 PAFAH1B1 NM_000430.2 NM_000430.2 5048 6031206 NM_000430.2 PAFAH1B1 NP_000421.1 ILMN_1722276 5670075 S 5161 GGGAGGGCAAGCTGGATTTACAGGTCACGGCTGGACTGAATGGGCCTTTT 17 + 2535219-2535268 17p13.3c "Homo sapiens platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa (PAFAH1B1), mRNA." "Any of the spindle microtubules that radiate in all directions from the spindle poles and are thought to contribute to the forces that separate the poles and position them in relation to the rest of the cell [goid 235] [pmid 11940666] [evidence IDA]; A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules [goid 776] [pmid 11940666] [evidence IDA]; A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules [goid 776] [pmid 11889140] [evidence IDA]; A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules [goid 776] [pmid 11056532] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [evidence IEA]; The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart [goid 5819] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8028668] [evidence ISS]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; Any multimeric complex connected to a microtubule [goid 5875] [pmid 11889140] [evidence IDA]; The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins [goid 5938] [pmid 11940666] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The area of a motile cell closest to the direction of movement [goid 31252] [evidence IEA]; A specialized primary cilium that contains a 9 + 0 arrangement of microtubules, radial spokes, and a dynein apparatus, but no inner doublet microtubules. Motile primary cilia display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface [goid 31512] [evidence IEA]; An immotile primary cilium that may be missing the central pair of microtubules, or the central pair of microtubules and outer dynein arms. Some primary cilia also have altered arrangements of outer microtubules (fewer than nine and/or not always present as doublets). Nonmotile primary cilia typically function as sensory organelles that concentrate and organize sensory signaling molecules [goid 31513] [evidence ISS]; Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space [goid 31965] [evidence IEA]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [evidence ISS]" "A cell cycle process that sets the alignment of mitotic spindle relative to other cellular structures [goid 132] [pmid 11056532] [evidence IMP]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins [goid 226] [evidence IEA]; The formation of the acrosome from the spermatid Golgi [goid 1675] [evidence IEA]; The characteristic movement of immature neurons from germinal zones to specific positions where they will reside as they mature [goid 1764] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; Progression through mitosis, the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother [goid 7067] [evidence IEA]; The process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse [goid 7268] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [evidence IEA]; The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron [goid 7405] [evidence IEA]; The acquisition and processing of information and/or the storage and retrieval of this information over time [goid 7611] [evidence IEA]; The directed movement of organelles or molecules along microtubules from the cell periphery toward the cell body in nerve cell axons [goid 8090] [evidence IEA]; Locomotory behavior in a fully developed and mature organism [goid 8344] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]; The process by which the anatomical structures of the corpus callosum are generated and organized. Morphogenesis pertains to the creation of form. The corpus callosum is a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres. It consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres [goid 21540] [pmid 9063735] [evidence IMP]; The progression of the hippocampus over time from its initial formation until its mature state [goid 21766] [evidence IEA]; The detachment of cells from radial glial fibers at the appropriate time when they cease to migrate and form distinct layer in the cerebral cortex [goid 21819] [evidence ISS]; The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon [goid 21987] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins [goid 30036] [pmid 10729324] [evidence ISS]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; Any process that modulates the activity of a GTPase of the Rho family [goid 32319] [pmid 10729324] [evidence ISS]; The chemical reactions and pathways involving platelet activating factor, 1-O-alkyl-2-acetyl-sn-glycerol 3-phosphocholine, where alkyl = hexadecyl or octadecyl. Platelet activating factor is an inflammatory mediator released from a variety of cells in response to various stimuli [goid 46469] [pmid 8028668] [evidence ISS]; The directed movement of a vesicle along a microtubule, mediated by motor proteins [goid 47496] [evidence IEA]; The process by which the anatomical structures of brain are generated and organized. Morphogenesis pertains to the creation of form. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 48854] [pmid 9063735] [evidence IMP]; Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors [goid 50885] [evidence IEA]; The process resulting in the physical partitioning and separation of a cell into daughter cells [goid 51301] [evidence IEA]" "Interacting selectively with microtubules, filaments composed of tubulin monomers [goid 8017] [evidence IEA]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [pmid 8028668] [evidence ISS]; Interacting selectively with any part of a dynactin complex; dynactin is a large protein complex that activates dynein-based motor activity [goid 34452] [pmid 11056532] [evidence ISS]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [evidence IEA]; Interacting selectively with any phospholipase, enzymes that catalyze of the hydrolysis of a glycerophospholipid [goid 43274] [pmid 8028668] [evidence ISS]; Interacting selectively with dynein, the multisubunit protein complex that is associated with microtubules [goid 45502] [pmid 11889140] [evidence IDA]; Interacting selectively with a phosphorylated protein [goid 51219] [evidence ISS]" LIS2; PAFAH; MDS; LIS1; MDCR LIS2; PAFAH; MDS; MDCR; LIS1 Kinase -> Other kinase Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Cholesterol metabolism;Protein metabolism and modification -> Protein modification -> Protein phosphorylation Homo sapiens RefSeq ILMN_13751 ILMN_13751 MVK NM_000431.1 NM_000431.1 4598 4557768 NM_000431.1 MVK NP_000422.1 ILMN_1786310 6620768 S 1603 TGGGTCCAATGCTCAGGTGCTGGGGCCTGGTTCCCGGAGAAGTGTGCCTT 12 + 108519101-108519150 12q24.11b "Homo sapiens mevalonate kinase (mevalonic aciduria) (MVK), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [evidence IEA]" "The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 6695] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the formation of any isoprenoid compound, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues [goid 8299] [pmid 1377680] [evidence TAS]; The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide [goid 16310] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + (R)-mevalonate = ADP + (R)-5-phosphomevalonate [goid 4496] [pmid 10369261] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 16189514] [evidence IPI]" LRBP; MVLK MVLK; LRBP Cytoskeletal protein -> Actin family cytoskeletal protein -> Other actin family cytoskeletal protein;Select calcium binding protein -> Calmodulin related protein Muscle contraction;Developmental processes -> Mesoderm development -> Muscle development;Cell structure and motility Homo sapiens RefSeq ILMN_26696 ILMN_26696 MYL2 NM_000432.2 NM_000432.2 4633 94981552 NM_000432.2 MYL2 NP_000423.2 ILMN_2113807 4290333 S 671 TCCACCTCCATCTTCTTTGCAGCCTGGGTGGCTATGGGTACTTCGTGGCC 12 - 109833092-109833141 12q24.11d "Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA." "A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes [goid 16459] [evidence IEA]; The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs [goid 30017] [pmid 16754800] [evidence TAS]" "Any process that modulates the frequency, rate or extent of striated muscle contraction [goid 6942] [pmid 8673105] [evidence TAS]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell growth [goid 30308] [pmid 15824735] [evidence IMP]; Process by which a cell becomes capable of differentiating autonomously into a muscle cell in an environment that is neutral with respect to the developmental pathway; upon specification, the cell fate can be reversed [goid 42694] [evidence IEA]; The process whose specific outcome is the progression of the cardiac myofibril over time, from its formation to the mature structure. A cardiac myofibril is a myofibril specific to cardiac muscle cells [goid 55003] [evidence IEA]; The process by which the anatomical structures of cardiac ventricle muscle is generated and organized. Morphogenesis pertains to the creation of form [goid 55010] [pmid 8673105] [evidence IMP]; The multicellular organismal process by which the heart decreases in volume in a characteristic way to propel blood through the body [goid 60047] [evidence IEA]" "Catalysis of movement along a polymeric molecule such as a microfilament or microtubule, coupled to the hydrolysis of a nucleoside triphosphate [goid 3774] [evidence IEA]; Interacting selectively with monomeric actin, also known as G-actin [goid 3785] [pmid 9180271] [evidence IDA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 11102452] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16555005] [evidence IPI]; The action of a molecule that contributes to the structural integrity of a muscle fiber [goid 8307] [pmid 8673105] [evidence TAS]; Interacting selectively with a heavy chain of a myosin complex [goid 32036] [pmid 8287067] [evidence NAS]" CMH10; MLC2; DKFZp779C0562 DKFZp779C0562; CMH10; MLC2 Oxidoreductase -> Oxidase Immunity and defense -> Granulocyte-mediated immunity Homo sapiens RefSeq ILMN_8146 ILMN_8146 NCF2 NM_000433.2 NM_000433.2 4688 67189969 NM_000433.2 NCF2 NP_000424.2 ILMN_1796642 70008 S 2056 GGGGAGAGGAAAAGTGGATGGAAGTGTCTGGAAAGGGCACGAGAGAGTCT 1 - 181791603-181791652 1q25.3e "Homo sapiens neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2) (NCF2), mRNA." "A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome [goid 1669] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome [goid 1669] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome [goid 1669] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2 [goid 43020] [pmid 7938008] [evidence TAS]" "A defense response that is mediated by cells [goid 6968] [pmid 1692159] [evidence TAS]; The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways [goid 42554] [pmid 7938008] [evidence TAS]; Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens [goid 45087] [pmid 7938008] [evidence TAS]; A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals [goid 45730] [pmid 7938008] [evidence TAS]" "Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 9365277] [evidence IPI]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [pmid 1692159] [evidence TAS]" p67phox; NOXA2; P67-PHOX p67phox; NOXA2; P67-PHOX Hydrolase -> Other hydrolase Carbohydrate metabolism;Lipid, fatty acid and steroid metabolism -> Lipid metabolism;Protein metabolism and modification -> Protein modification -> Protein glycosylation Homo sapiens RefSeq ILMN_23298 ILMN_23298 NEU1 NM_000434.2 NM_000434.2 4758 40806202 NM_000434.2 NEU1 NP_000425.1 ILMN_1763144 4200692 S 1537 CTTTAGGACTGAAAGCTAGGCGTCCTCTCCCACAAAAAAGTCCTGCCCTC 6 - 31935266-31935315 6p21.32b "Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA." "The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm [goid 5765] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]; The volume enclosed within the lysosomal membrane [goid 43202] [evidence IEA]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of the hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)-glycosidic linkages of terminal sialic residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates [goid 4308] [pmid 8985184] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16314420] [evidence IPI]; Catalysis of the hydrolysis of any glycosyl bond [goid 16798] [evidence IEA]" NEU; SIAL1 NEU; SIAL1 Signaling molecule -> Membrane-bound signaling molecule;Defense/immunity protein Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Immunity and defense;Developmental processes -> Ectoderm development -> Neurogenesis;Cell proliferation and differentiation;Cell structure and motility -> Cell motility Homo sapiens RefSeq ILMN_12369 ILMN_12369 NOTCH3 NM_000435.1 NM_000435.1 4854 4557798 NM_000435.1 NOTCH3 NP_000426.1 ILMN_1658926 2340692 S 7990 TCCCTGTGTAGCTGAATTCCCAAGCCCTGCATTGTACAGCCCCCCACTCC 19 - 15131475-15131524 19p13.12b "Homo sapiens Notch homolog 3 (Drosophila) (NOTCH3), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The series of molecular signals initiated by binding of an extracellular ligand to a Notch receptor on the surface of the target cell [goid 7219] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) [goid 30900] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of neuron differentiation [goid 45665] [evidence IEA]; The process whereby the developmental fate of a cell becomes restricted such that it will develop into a neuron [goid 48663] [evidence IEA]; Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 50793] [evidence IEA]" Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17292860] [evidence IPI] CASIL; CADASIL CADASIL; CASIL Transferase -> Other transferase Carbohydrate metabolism;Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism;Coenzyme and prosthetic group metabolism -> Coenzyme metabolism Homo sapiens RefSeq ILMN_11899 ILMN_180248 OXCT1 NM_000436.3 NM_000436.3 5019 112382246 NM_000436.3 OXCT1 NP_000427.1 ILMN_1813544 1090768 S 2987 TTATTCTCAATACCTGACAGGGGCCCATGGGAATGACTTCAGAAGCATCC 5 - 41766445-41766494 5p13.1a "Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 11756565] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 10964512] [evidence NAS]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 8751852] [evidence EXP]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Ketone bodies can be used as an energy source as an alternative to glucose. Utilization of ketone bodies in peripheral tissues involves conversion of acetoacetate to acetoacetyl-CoA, which is then converted to two molecules of acetyl-CoA [goid 46952] [evidence IEA]" "Catalysis of the reaction: succinyl-CoA + a 3-oxo acid = succinate + a 3-oxo-acyl-CoA [goid 8260] [pmid 10964512] [evidence IMP]; Catalysis of the reaction: succinyl-CoA + a 3-oxo acid = succinate + a 3-oxo-acyl-CoA [goid 8260] [pmid 8751852] [evidence IMP]; Catalysis of the reaction: succinyl-CoA + a 3-oxo acid = succinate + a 3-oxo-acyl-CoA [goid 8260] [pmid 8751852] [evidence EXP]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 10964512] [evidence NAS]" OXCT; SCOT OXCT; SCOT Synthase and synthetase Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism;Immunity and defense -> Other immune and defense Homo sapiens RefSeq ILMN_3410 ILMN_3410 PAFAH2 NM_000437.3 NM_000437.3 5051 140560949 NM_000437.3 PAFAH2 NP_000428.2 ILMN_1682919 610600 S 2176 GTTTGGTCAGCTAAAACTCAGCTGCAGCCTGGACAGTAGAGCGAGACCCC 1 - 26160200-26160249 1p36.11b "Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; An enzyme complex composed of two catalytic alpha subunits, which form a catalytic dimer, and a non-catalytic, regulatory beta subunit; the catalytic dimer may be an alpha1/alpha1 or alpha2/alpha2 homodimer, or an alpha1/alpha2 heterodimer. Modulates the action of platelet-activating factor (PAF) [goid 8247] [evidence IEA]; An enzyme complex composed of two catalytic alpha subunits, which form a catalytic dimer, and a non-catalytic, regulatory beta subunit; the catalytic dimer may be an alpha1/alpha1 or alpha2/alpha2 homodimer, or an alpha1/alpha2 heterodimer. Modulates the action of platelet-activating factor (PAF) [goid 8247] [evidence IEA]; An enzyme complex composed of two catalytic alpha subunits, which form a catalytic dimer, and a non-catalytic, regulatory beta subunit; the catalytic dimer may be an alpha1/alpha1 or alpha2/alpha2 homodimer, or an alpha1/alpha2 heterodimer. Modulates the action of platelet-activating factor (PAF) [goid 8247] [evidence IEA]" "The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]" "Catalysis of the reaction: 2-acetyl-1-alkyl-sn-glycero-3-phosphocholine + H2O = 1-alkyl-sn-glycero-3-phosphocholine + acetate [goid 3847] [evidence IEA]; Interacting selectively with phospholipids, a class of lipids containing phosphoric acid as a mono- or diester [goid 5543] [pmid 8955149] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: 2-acetyl-1-alkyl-sn-glycero-3-phosphocholine + H2O = 1-alkyl-sn-glycero-3-phosphocholine + acetate [goid 3847] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: 2-acetyl-1-alkyl-sn-glycero-3-phosphocholine + H2O = 1-alkyl-sn-glycero-3-phosphocholine + acetate [goid 3847] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" HSD-PLA2; FLJ26025 HSD-PLA2; FLJ26025 Transcription factor -> Homeobox transcription factor;Nucleic acid binding -> Other DNA-binding protein Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Segment specification;Developmental processes -> Ectoderm development -> Neurogenesis Homo sapiens RefSeq ILMN_2796 ILMN_2796 PAX3 NM_000438.3 NM_000438.3 5077 31563350 NM_000438.3 PAX3 NP_000429.2 ILMN_1707314 2370246 I 1276 GAGACTGGGCATCTCTGAGCAATTGTAGGGCCGGGGATAGAGGGTACTTG 2 - 222866756-222866805 2q36.1b "Homo sapiens paired box 3 (PAX3), transcript variant PAX3A, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]" "Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 122] [evidence IEA]; The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo [goid 1755] [evidence IEA]; The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline [goid 1843] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 9500554] [evidence TAS]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [pmid 10871843] [evidence TAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 9500554] [evidence TAS]; Any process that activates or increases the rate or extent of cell proliferation [goid 8284] [evidence IEA]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [pmid 8447316] [evidence TAS]; The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium [goid 21915] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]; The deposition of coloring matter in an organism, tissue or cell, occurring during development [goid 48066] [evidence IEA]" "The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; Interacting selectively with chromatin, the network of fibers of DNA and protein that make up the chromosomes of the eukaryotic nucleus during interphase [goid 3682] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9500554] [evidence TAS]; Functions to initiate or regulate RNA polymerase II transcription by binding an enhancer region of DNA [goid 3705] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11029584] [evidence IPI]; Any transcription regulator activity required for initiation or upregulation of transcription [goid 16563] [evidence IEA]; Any activity that stops or downregulates transcription of specific genes or sets of genes [goid 16566] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]" WS1; MGC120381; HUP2; CDHS; MGC120383; MGC120384; MGC134778; MGC120382 MGC120384; WS1; MGC120381; MGC134778; MGC120382; HUP2; CDHS; MGC120383 Transcription factor -> Homeobox transcription factor;Nucleic acid binding -> Other DNA-binding protein Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Segment specification;Developmental processes -> Ectoderm development -> Neurogenesis Homo sapiens RefSeq ILMN_2472 ILMN_2796 PAX3 NM_000438.3 NM_000438.3 5077 31563350 NM_000438.3 PAX3 NP_000429.2 ILMN_1757053 1430768 A 869 AGGAGGCCGACTTGGAGAGGAAGGAGGCAGAGGAAAGCGAGAAGAAGGCC 2 - 222867163-222867212 2q36.1b "Homo sapiens paired box 3 (PAX3), transcript variant PAX3A, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]" "Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 122] [evidence IEA]; The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo [goid 1755] [evidence IEA]; The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline [goid 1843] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 9500554] [evidence TAS]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [pmid 10871843] [evidence TAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 9500554] [evidence TAS]; Any process that activates or increases the rate or extent of cell proliferation [goid 8284] [evidence IEA]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [pmid 8447316] [evidence TAS]; The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium [goid 21915] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]; The deposition of coloring matter in an organism, tissue or cell, occurring during development [goid 48066] [evidence IEA]" "The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; Interacting selectively with chromatin, the network of fibers of DNA and protein that make up the chromosomes of the eukaryotic nucleus during interphase [goid 3682] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9500554] [evidence TAS]; Functions to initiate or regulate RNA polymerase II transcription by binding an enhancer region of DNA [goid 3705] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11029584] [evidence IPI]; Any transcription regulator activity required for initiation or upregulation of transcription [goid 16563] [evidence IEA]; Any activity that stops or downregulates transcription of specific genes or sets of genes [goid 16566] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]" WS1; MGC120381; HUP2; CDHS; MGC120383; MGC120384; MGC134778; MGC120382 MGC120384; WS1; MGC120381; MGC134778; MGC120382; HUP2; CDHS; MGC120383 Protease -> Serine protease Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_178294 ILMN_178294 PCSK1 NM_000439.3 NM_000439.3 5122 20336241 NM_000439.3 PCSK1 NP_000430.3 ILMN_2081813 520176 S 4977 GTAGCTGAGTTTAACATGTGTGGTCTTGGTATTCTTAAGGGAACTTCCAC 5 - 95751902-95751951 5q15d "Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), mRNA." "That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 8397508] [evidence IDA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]" "The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 9207799] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 9207799] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [pmid 9207799] [evidence TAS]; The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide [goid 43043] [evidence ISS]" "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]" PC3; NEC1; PC1; SPC3 PC3; NEC1; PC1; SPC3 Hydrolase -> Phosphodiesterase Nucleoside, nucleotide and nucleic acid metabolism -> Metabolism of cyclic nucleotides;Signal transduction;Sensory perception -> Vision Homo sapiens RefSeq ILMN_29652 ILMN_29652 PDE6A NM_000440.1 NM_000440.1 5145 4585863 NM_000440.1 PDE6A NP_000431.1 ILMN_2195319 3130113 S 2599 AAGCAGAAACAGCAGTCGGCCAAGTCAGCAGCCGCAGGAAATCAGCCGGG 5 - 149220705-149220727:149222875-149222901 5q33.1c "Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA." The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA] "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 7493036] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" "Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: guanosine 3',5'-cyclic phosphate + H2O = guanosine 5'-phosphate [goid 47555] [evidence IEA]" PDEA; CGPR-A PDEA; CGPR-A Transporter -> Other transporter Sulfur metabolism -> Other sulfur metabolism;Transport -> Ion transport -> Anion transport;Transport -> Extracellular transport and import Homo sapiens RefSeq ILMN_23896 ILMN_23896 SLC26A4 NM_000441.1 NM_000441.1 5172 4505696 NM_000441.1 SLC26A4 NP_000432.1 ILMN_1652465 5900358 S 4638 TCTGGGTTCATTTGTGATGACATAAGTCAGCAAACTGCGGGAATACTGTC 7 + 106719080-106719129 7q22.3c "Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 10192399] [evidence TAS]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 9398842] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 10192399] [evidence TAS]; The directed movement of sulfate into, out of, within or between cells [goid 8272] [pmid 9398842] [evidence TAS]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Catalysis of the secondary active transfer of sulfate from one side of the membrane to the other. Secondary active transport is catalysis of the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy. Chemiosmotic sources of energy include uniport, symport or antiport [goid 8271] [evidence IEA]; Catalysis of the transfer of chloride ions from one side of a membrane to the other [goid 15108] [pmid 10192399] [evidence TAS]; Catalysis of the transfer of iodide ions from one side of a membrane to the other [goid 15111] [pmid 10192399] [evidence TAS]; Interacting selectively with chloride ions (Cl-) [goid 31404] [evidence IEA]" PDS; DFNB4 PDS; DFNB4 Receptor -> Immunoglobulin receptor family member;Defense/immunity protein -> Immunoglobulin receptor family member;Cell adhesion molecule -> Other cell adhesion molecule Cell adhesion;Cell structure and motility -> Cell motility Homo sapiens RefSeq ILMN_7862 ILMN_7862 PECAM1 NM_000442.3 NM_000442.3 5175 110347450 NM_000442.3 PECAM1 NP_000433.3 ILMN_1689518 430747 S 2532 CCCTGCTCCCACAGAACACAGCAATTCCTCAGGCTAAGCTGCCGGTTCTT 17 - 59754751-59754800 17q23.3b "Homo sapiens platelet/endothelial cell adhesion molecule (PECAM1), mRNA." "That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 9290466] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10858437] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10350061] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9774457] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 1690453] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8080982] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9054388] [evidence EXP]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The lipid bilayer surrounding the platelet alpha granule [goid 31092] [pmid 8080982] [evidence EXP]" "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 7994021] [evidence TAS]; The process by which a cell in a multicellular organism interprets its surroundings [goid 8037] [pmid 1690453] [evidence TAS]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10801826] [evidence IPI] CD31; PECAM-1 CD31; PECAM-1 Protease -> Metalloprotease Protein metabolism and modification -> Proteolysis;Signal transduction -> Cell communication;Developmental processes -> Mesoderm development -> Skeletal development Homo sapiens RefSeq ILMN_138225 ILMN_178214 PHEX NM_000444.3 NM_000444.3 5251 90403591 NM_000444.3 PHEX NP_000435.3 ILMN_1668242 2350612 S 2429 CATGGACTCCTGCCGACTCTGGTAGCTGGGACGCTGGTTTATGGCATCCT X + 22175967-22175991:22175992-22176016 Xp22.11b "Homo sapiens phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets) (PHEX), transcript variant 1843529, mRNA." The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9593714] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9593714] [evidence TAS] "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 9070861] [evidence TAS]; The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance [goid 1503] [evidence IEA]; The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [pmid 7550339] [evidence TAS]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 9593714] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 7550339] [evidence TAS]" "Catalysis of the hydrolysis of N-terminal amino acid residues from in a polypeptide chain [goid 4177] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 4222] [pmid 9593714] [evidence TAS]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 9070861] [evidence TAS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" HPDR; HYP; HPDR1; XLH; HYP1; PEX HPDR; HYP; HPDR1; XLH; HYP1; PEX Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_24283 ILMN_27233 PLEC1 NM_000445.2 NM_000445.2 5339 47607491 NM_000445.2 PLEC1 NP_000436.2 ILMN_1744268 1050500 A 14313 AGCCTCTGTTCCCCTAGTAAGTGCCTTCCATGTCGGCCTCTAACCCCAGG 8 - 145061701-145061750 8q24.3g "Homo sapiens plectin 1, intermediate filament binding protein 500kDa (PLEC1), transcript variant 1, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8633055] [evidence NAS]" "Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a muscle fiber [goid 8307] [pmid 8696340] [evidence TAS]" EBS1; PLTN; EBSO; PCN; PLEC1b; HD1 EBS1; PLTN; EBSO; PCN; PLEC1b; HD1 Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_27233 ILMN_27233 PLEC1 NM_000445.2 NM_000445.2 5339 47607491 NM_000445.2 PLEC1 NP_000436.2 ILMN_1757378 7570014 I 75 CAGCCCTGGGGACACACTGCCCTGGAACCTTGGGAAAACGCAGCGGAGCC 8 - 145121407-145121456 8q24.3g "Homo sapiens plectin 1, intermediate filament binding protein 500kDa (PLEC1), transcript variant 1, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8633055] [evidence NAS]" "Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a muscle fiber [goid 8307] [pmid 8696340] [evidence TAS]" EBS1; PLTN; EBSO; PCN; PLEC1b; HD1 EBS1; PLTN; EBSO; PCN; PLEC1b; HD1 Oxidoreductase -> Peroxidase;Hydrolase -> Esterase Phosphate metabolism;Immunity and defense -> Detoxification Homo sapiens RefSeq ILMN_24208 ILMN_24208 PON1 NM_000446.3 NM_000446.3 5444 31880793 NM_000446.3 PON1 NP_000437.3 ILMN_1662944 3710180 S 1931 GTGTCCCCAAAGACTACACTGTTGTTGAGGTGGTGGTAGTGCTGGTGGGT 7 - 94765336-94765385 7q21.3b "Homo sapiens paraoxonase 1 (PON1), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 18029348] [evidence IDA]" "The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues [goid 8203] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus [goid 9605] [pmid 1657140] [evidence NAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxin stimulus [goid 9636] [evidence IEA]" "Catalysis of the reaction: aryl dialkyl phosphate + H2O = dialkyl phosphate + an aryl alcohol [goid 4063] [evidence IEA]; Catalysis of the reaction: a phenyl acetate + H2O = a phenol + acetate [goid 4064] [pmid 1673382] [evidence NAS]; Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" ESA; PON ESA; PON Protease -> Aspartic protease;Select calcium binding protein -> Other select calcium binding proteins Protein metabolism and modification -> Proteolysis;Signal transduction -> Cell surface receptor mediated signal transduction -> Other receptor mediated signaling pathway;Apoptosis -> Other apoptosis Homo sapiens RefSeq ILMN_21140 ILMN_21140 PSEN2 NM_000447.1 NM_000447.1 5664 4506164 NM_000447.1 PSEN2 NP_000438.1 ILMN_2404512 20040 A 1721 TGGTGTGCCACAGGCTGCAAGCTGCAGGGAATTTTCATTGGATGCAGTTG 1 + 225149928-225149977 1q42.13a "Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules [goid 776] [pmid 9298903] [evidence TAS]; Located such that some or all of the gene product itself penetrates at least one phospholipid bilayer of the nuclear inner membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5639] [pmid 9298903] [evidence TAS]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 15274632] [evidence IDA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 15274632] [evidence IDA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 15274632] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; The proteolytic cleavage of transmembrane proteins and release of their ectodomain (extracellular domain) [goid 6509] [pmid 15274632] [evidence IDA]; The process by which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets [goid 7059] [pmid 9298903] [evidence TAS]; The series of successive proteolytic cleavage events that take place after a Notch receptor binds a ligand, and which lead to the release of the Notch Intracellular Domain (NICD), which is the active form of the receptor [goid 7220] [pmid 15274632] [evidence TAS]; The intracellular signaling cascade that results when a cell is triggered to undergo apoptosis [goid 8632] [pmid 8939861] [evidence TAS]; The posttranslational modification of a protein, particularly secretory proteins and proteins targeted for membranes or specific cellular locations [goid 16485] [pmid 15274632] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of amyloid precursor protein (APP), the precursor of beta-amyloid, a glycoprotein associated with Alzheimer's disease [goid 42987] [pmid 15274632] [evidence TAS]; Any process that activates or increases the activity of an enzyme [goid 43085] [pmid 15274632] [evidence IDA]" Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12297508] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA] AD3L; STM2; PS2; AD4 AD3L; STM2; PS2; AD4 Nucleic acid binding -> Nuclease -> Endodeoxyribonuclease;Hydrolase Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA recombination;Immunity and defense -> B-cell- and antibody-mediated immunity Homo sapiens RefSeq ILMN_22490 ILMN_166325 RAG1 NM_000448.1 NM_000448.1 5896 4557840 NM_000448.1 RAG1 NP_000439.1 ILMN_1738818 6280739 S 6376 GAGAAAATTCAGGTACCAGGATGCAATGGATTTATTTGATTCAGGGGACC 11 + 36557682-36557731 11p12d "Homo sapiens recombination activating gene 1 (RAG1), mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]" "Any process by which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Intrachromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction [goid 6310] [pmid 9630231] [evidence TAS]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 9630231] [evidence TAS]; The process whereby a precursor cell type acquires the specialized features of a B cell [goid 30183] [evidence IEA]; The process by which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS) [goid 33151] [evidence IEA]" "Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 9630231] [evidence TAS]; Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks [goid 4519] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" MGC43321; RNF74 MGC43321; RNF74 Transcription factor -> Transcription cofactor;Nucleic acid binding -> Nuclease Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription;Other metabolism Homo sapiens RefSeq ILMN_171814 ILMN_171814 RFX5 NM_000449.3 NM_000449.3 5993 71040087 NM_000449.3 RFX5 NP_000440.1 ILMN_2363843 2490427 A 2756 CTATATCATGGACAACACCTTTGGGGAAAAGGGTGGGGGTCAGCCTCCCC 1 - 149580552-149580601 1q21.2d "Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9806546] [evidence TAS]" "Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]" Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9806546] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16464847] [evidence IPI] Receptor;Cell adhesion molecule -> Other cell adhesion molecule Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Cell adhesion Homo sapiens RefSeq ILMN_7997 ILMN_7997 SELE NM_000450.1 NM_000450.1 6401 4506870 NM_000450.1 SELE NP_000441.1 ILMN_2193892 2480497 S 3546 GGGGCAGAAAAACTCTGGGAAATAAGAGAGAACAACTACTGTGATCAGGC 1 - 167958643-167958692 1q24.2c "Homo sapiens selectin E (endothelial adhesion molecule 1) (SELE), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 9290466] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2466335] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]" "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 2466335] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]" "The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with any mono-, di- or trisaccharide carbohydrate [goid 5529] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with any mono-, di- or trisaccharide carbohydrate [goid 5529] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with any mono-, di- or trisaccharide carbohydrate [goid 5529] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with any mono-, di- or trisaccharide carbohydrate [goid 5529] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any mono-, di- or trisaccharide carbohydrate [goid 5529] [evidence IEA]" LECAM2; ESEL; ELAM; CD62E; ELAM1 LECAM2; ESEL; CD62E; ELAM1; ELAM Transporter -> Cation transporter;Transporter -> Other transporter Transport -> Ion transport -> Cation transport Homo sapiens RefSeq ILMN_28775 ILMN_28775 SLC10A2 NM_000452.1 NM_000452.1 6555 4506972 NM_000452.1 SLC10A2 NP_000443.1 ILMN_1683670 2810170 S 3498 GGATGCCAGCAGCTGCAGCAAGCAGGTTTTTCCTCCCTGTTGAGCAAGAC 13 - 102494580-102494629 13q33.1b "Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA." The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9109432] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7592981] [evidence TAS] "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]; The directed movement of organic anions into, out of, within or between cells. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage [goid 15711] [evidence IEA]" Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: bile acid(out) + Na+(out) = bile acid(in) + Na+(in) [goid 8508] [pmid 9109432] [evidence TAS]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA] NTCP2; ISBT; ASBT NTCP2; ISBT; ASBT Transporter Transport Homo sapiens RefSeq ILMN_18879 ILMN_18879 SLC5A5 NM_000453.1 NM_000453.1 6528 4507034 NM_000453.1 SLC5A5 NP_000444.1 ILMN_1711275 2350224 S 2294 GCGGGACTGACACCCTGGGATGGAACCTCAGGATGGGCCAAACCCAGACA 19 + 17865701-17865750 19p13.11d "Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 9388506] [evidence TAS]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: iodide(out) + Na+(out) = iodide(in) + Na+(in) [goid 8507] [evidence IEA]; Catalysis of the transfer of iodide ions from one side of a membrane to the other [goid 15111] [pmid 9388506] [evidence TAS]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA]" NIS NIS Oxidoreductase -> Other oxidoreductase Immunity and defense Homo sapiens RefSeq ILMN_14302 ILMN_14302 SOD1 NM_000454.4 NM_000454.4 6647 48762945 NM_000454.4 SOD1 NP_000445.1 ILMN_1662438 5420367 S 491 GGCCGCACACTGGTGGTCCATGAAAAAGCAGATGACTTGGGCAAAGGTGG 21 + 31961545-31961559:31962655-31962689 21q22.11b "Homo sapiens superoxide dismutase 1, soluble (SOD1), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 9453566] [evidence IDA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 7172448] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9726962] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 17504823] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11527942] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9726962] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 17077646] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 17504823] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 16790527] [evidence IDA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 17008312] [evidence NAS]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 15766328] [evidence NAS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 16790527] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 17077646] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 17324120] [evidence IDA]; A structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as in plants) [goid 31012] [pmid 9699963] [evidence IDA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [pmid 17077646] [evidence IDA]; All of the contents of a dendrite, excluding the surrounding plasma membrane [goid 32839] [pmid 17324120] [evidence IDA]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [pmid 17324120] [evidence IDA]; Any macromolecular complex composed of two or more polypeptide subunits, which may or may not be identical. Protein complexes may have other associated non-protein prosthetic groups, such as nucleotides, metal ions or carbohydrate groups [goid 43234] [pmid 17324120] [evidence IDA]" "The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species [goid 6801] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The initiation of the activity of the inactive enzyme MAP kinase by phosphorylation by a MAPKK [goid 187] [evidence ISS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a superoxide stimulus. Superoxide is the anion, oxygen-, formed by addition of one electron to dioxygen (O2) or any compound containing the superoxide anion [goid 303] [pmid 16790527] [evidence IDA]; The process whose specific outcome is the progression of the ovarian follicle over time, from its formation to the mature structure [goid 1541] [evidence ISS]; Any process that activates or increases the frequency, rate or extent of production of a cytokine [goid 1819] [pmid 15544046] [evidence IDA]; The process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin [goid 1890] [pmid 12485882] [evidence NAS]; A tissue homeostatic process involved in the maintenance of an internal equilibrium within the retina of the eye, including control of cellular proliferation and death and control of metabolic function [goid 1895] [evidence ISS]; The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus [goid 2262] [evidence ISS]; The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix [goid 6302] [evidence ISS]; The cleavage of DNA during apoptosis, which usually occurs in two stages: cleavage into fragments of about 50 kbp followed by cleavage between nucleosomes to yield 200 bp fragments [goid 6309] [evidence ISS]; The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle [goid 6749] [evidence ISS]; The regulation of the levels, transport, and metabolism of iron ions within a cell or between a cell and its external environment [goid 6879] [evidence ISS]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [evidence ISS]; Attachment of the blastocyst to the uterine lining [goid 7566] [evidence ISS]; Attachment of the blastocyst to the uterine lining [goid 7566] [pmid 10920331] [evidence NAS]; Progression of the cell from its inception to the end of its lifespan [goid 7569] [pmid 15377661] [evidence IEP]; Progression of the cell from its inception to the end of its lifespan [goid 7569] [pmid 12871978] [evidence IMP]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence ISS]; The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions [goid 7626] [evidence ISS]; The process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure [goid 8217] [evidence ISS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism [goid 9408] [evidence ISS]; The sequential electrochemical polarization and depolarization that travels across the membrane of a nerve cell (neuron) in response to stimulation [goid 19226] [evidence ISS]; Any process involved in removing superoxide radicals (O2-) from a cell or organism, e.g. by conversion to dioxygen (O2) and hydrogen peroxide (H2O2) [goid 19430] [evidence ISS]; The process by which the structure and material content of mature peripheral nervous system myelin is kept in a functional state [goid 32287] [evidence ISS]; Any process that modulates the frequency, rate or extent of T cell differentiation in the thymus [goid 33081] [pmid 16716898] [evidence NAS]; Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size [goid 40014] [evidence ISS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease [goid 42493] [evidence ISS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrogen peroxide (H2O2) stimulus [goid 42542] [evidence ISS]; The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways [goid 42554] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of cell death by apoptosis [goid 43065] [pmid 16790527] [evidence IC ]; Any process that activates or increases the activity of an enzyme [goid 43085] [pmid 17324120] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis in neurons [goid 43524] [evidence ISS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ethanol stimulus [goid 45471] [evidence ISS]; Any process that stops, prevents or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol [goid 45541] [pmid 15473258] [evidence IDA]; Any process that modulates the frequency, rate or extent of protein kinase activity [goid 45859] [pmid 16254550] [evidence IDA]; Any process that modulates the frequency, rate or extent of growth of an organ of an organism [goid 46620] [pmid 16716898] [evidence NAS]; The cellular homeostatic process by which a muscle fiber is preserved in a stable functional or structural state [goid 46716] [evidence ISS]; The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components [goid 48538] [pmid 16716898] [evidence NAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an axon injury stimulus [goid 48678] [evidence ISS]; The chemical reactions and pathways resulting in the formation of hydrogen peroxide (H2O2), a potentially harmful byproduct of aerobic cellular respiration which can cause damage to DNA [goid 50665] [pmid 15544046] [evidence IDA]; The chemical reactions and pathways resulting in the formation of hydrogen peroxide (H2O2), a potentially harmful byproduct of aerobic cellular respiration which can cause damage to DNA [goid 50665] [evidence ISS]; Any process that modulates the establishment or extent of the mitochondrial membrane potential, the electric potential existing across the mitochondrial membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane [goid 51881] [pmid 16790527] [evidence IMP]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The multicellular organismal process by which the heart decreases in volume in a characteristic way to propel blood through the body [goid 60047] [pmid 9539776] [evidence IDA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising neurofilaments and their associated proteins [goid 60052] [evidence ISS]; Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle contraction [goid 60087] [evidence ISS]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a stereocilium. A stereocilium is an actin-based protrusion from the apical surface of auditory hair cells [goid 60088] [evidence ISS]" "Catalysis of the reaction: 2 peroxide radical + 2 H+ = O2 + H2O2 [goid 4784] [evidence IEA]; Interacting selectively with copper (Cu) ions [goid 5507] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage [goid 16209] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the reaction: 2 peroxide radical + 2 H+ = O2 + H2O2 [goid 4784] [pmid 15544046] [evidence IDA]; Catalysis of the reaction: 2 peroxide radical + 2 H+ = O2 + H2O2 [goid 4784] [pmid 17324120] [evidence IDA]; Interacting selectively with copper (Cu) ions [goid 5507] [pmid 17008312] [evidence IDA]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 17381088] [evidence IDA]; Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage [goid 16209] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with the enzyme protein phosphatase 2B [goid 30346] [pmid 17324120] [evidence IDA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 10837872] [evidence NAS]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 9726962] [evidence NAS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport [goid 51087] [pmid 9726962] [evidence IPI]" ALS1; IPOA; SOD; homodimer; ALS ALS1; IPOA; SOD; homodimer; ALS Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction;Developmental processes;Cell cycle -> Mitosis -> Cytokinesis;Cell proliferation and differentiation;Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_15023 ILMN_15023 STK11 NM_000455.4 NM_000455.4 6794 58530881 NM_000455.4 STK11 NP_000446.1 ILMN_1751871 4150414 S 2924 AAGGTGGATTTGAGCTGTGGCTGTGAGGGGTGTTTGGGAGCTGCTGGGTG 19 + 1179082-1179131 19p13.3i "Homo sapiens serine/threonine kinase 11 (STK11), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 12805220] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 17216128] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 12805220] [evidence IDA]" "The process of introducing a phosphate group on to a protein [goid 6468] [pmid 12805220] [evidence IDA]; The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [pmid 17216128] [evidence IDA]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [pmid 12805220] [evidence IDA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 17216128] [evidence IMP]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [pmid 12805220] [evidence IDA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [pmid 12805220] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17216128] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 12805220] [evidence IDA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with manganese (Mn) ions [goid 30145] [evidence IEA]" PJS; LKB1 LKB1; PJS Oxidoreductase -> Oxidase Electron transport;Sulfur metabolism -> Sulfur redox metabolism;Other metabolism Homo sapiens RefSeq ILMN_25326 ILMN_25551 SUOX NM_000456.2 NM_000456.2 6821 74099693 NM_000456.2 SUOX NP_000447.2 ILMN_1803745 630110 A 2366 TCTCCAGGTTGCCAGAGAGTTGCGAGGAGAGCAAGGGGCACAACCGTCTC 12 + 54685480-54685529 12q13.2c "Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The region between the inner and outer lipid bilayers of the mitochondrial envelope [goid 5758] [evidence IEA]" The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA] "Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Catalysis of the reaction: SO3(2-) (sulfite) + O2 + H2O = SO4(2-) (sulfate) + H2O2 [goid 8482] [pmid 9428520] [evidence TAS]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with molybdenum (Mo) ions [goid 30151] [evidence IEA]" Oxidoreductase -> Oxidase Electron transport;Sulfur metabolism -> Sulfur redox metabolism;Other metabolism Homo sapiens RefSeq ILMN_25551 ILMN_25551 SUOX NM_000456.2 NM_000456.2 6821 74099693 NM_000456.2 SUOX NP_000447.2 ILMN_1710682 1300288 I 196 GAGTCTCCAACTCCTGGCCTCTAGCAGTCCTCCTGTGTAGGTCTCCCAAA 12 + 54679389-54679438 12q13.2c "Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The region between the inner and outer lipid bilayers of the mitochondrial envelope [goid 5758] [evidence IEA]" The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA] "Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Catalysis of the reaction: SO3(2-) (sulfite) + O2 + H2O = SO4(2-) (sulfate) + H2O2 [goid 8482] [pmid 9428520] [evidence TAS]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with molybdenum (Mo) ions [goid 30151] [evidence IEA]" Transcription factor -> Other transcription factor;Nucleic acid binding Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation Homo sapiens RefSeq ILMN_10099 ILMN_10099 TCF2 NM_000458.1 NM_000458.1 6928 4507396 NM_000458.1 TCF2 NP_000449.1 ILMN_1663561 2630491 A 837 GGGCCTGGGCAGTCCGATGATGCCTGCTCTGAGCCCACCAACAAGAAGAT 17 - 33167779-33167828 17q12b "Homo sapiens transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor (TCF2), transcript variant a, mRNA." VHNF1; MODY5; HNF2; HNF1B; FJHN; HNF1beta; LFB3 VHNF1; MODY5; HNF2; HNF1B; FJHN; HNF1beta; LFB3 Transcription factor -> Other transcription factor;Nucleic acid binding Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation Homo sapiens RefSeq ILMN_10099 ILMN_10099 TCF2 NM_000458.1 NM_000458.1 6928 4507396 NM_000458.1 TCF2 NP_000449.1 ILMN_1778337 3520632 I 2552 GGCCTGGACACTTATGGGGACAGCATACCTTGGACTGACTACCAGCTAAC 17 - 33120754-33120803 17q12b "Homo sapiens transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor (TCF2), transcript variant a, mRNA." VHNF1; MODY5; HNF2; HNF1B; FJHN; HNF1beta; LFB3 VHNF1; MODY5; HNF2; HNF1B; FJHN; HNF1beta; LFB3 Receptor -> Protein kinase receptor -> Tyrosine protein kinase receptor;Kinase -> Protein kinase -> Tyrosine protein kinase receptor Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Developmental processes;Cell structure and motility -> Cell motility Homo sapiens RefSeq ILMN_38866 ILMN_38866 TEK NM_000459.2 NM_000459.2 7010 88758595 NM_000459.2 TEK NP_000450.2 ILMN_2066151 7570176 S 4249 GTGACCACTCTGTCTTGTGTTTCCACAGCCTGCAAGTCAGTCCAGGATGC 9 + 27219801-27219850 9p21.2a "Homo sapiens TEK tyrosine kinase, endothelial (venous malformations, multiple cutaneous and mucosal) (TEK), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 14749497] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 14665640] [evidence EXP]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8382358] [evidence TAS]" "The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [evidence IEA]; The attachment of one cell to another cell via adhesion molecules [goid 16337] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [evidence IEA]; Any process that modulates the frequency, rate or extent of angiogenesis [goid 45765] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8382358] [evidence TAS]; The series of molecular signals generated as a consequence of a transmembrane receptor tyrosine kinase binding to its physiological ligand [goid 7169] [pmid 8980225] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 8980225] [evidence TAS]; The attachment of one cell to another cell via adhesion molecules [goid 16337] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [evidence IEA]; Any process that modulates the frequency, rate or extent of angiogenesis [goid 45765] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate [goid 4713] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate, to initiate a change in cell activity [goid 4714] [pmid 8382358] [evidence TAS]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [pmid 10766762] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" TIE2; TIE-2; CD202B; VMCM1; VMCM TIE2; TIE-2; CD202B; VMCM1; VMCM Signaling molecule -> Cytokine -> Other cytokine Signal transduction -> Cell communication -> Ligand-mediated signaling;Immunity and defense -> Other immune and defense Homo sapiens RefSeq ILMN_2370 ILMN_172693 THPO NM_000460.2 NM_000460.2 7066 40805871 NM_000460.2 THPO NP_000451.1 ILMN_1737943 5290204 A 1671 GCCTTCCAACGCCCCCATCCCCTTTACTATCATTCTCAGTGGGACTCTGA 3 - 185572551-185572600 3q27.1b "Homo sapiens thrombopoietin (myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor) (THPO), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]" "The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 8202159] [evidence TAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 8202159] [evidence TAS]; The process whereby a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages [goid 30099] [evidence IEA]" "Functions to control the survival, growth, differentiation and effector function of tissues and cells [goid 5125] [evidence IEA]; The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [evidence IEA]; Functions to control the survival, growth, differentiation and effector function of tissues and cells [goid 5125] [evidence IEA]; The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [evidence IEA]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [pmid 8202159] [evidence TAS]" TPO; MPLLG; MGC163194; MGDF; ML; MKCSF TPO; MPLLG; MGC163194; MGDF; ML; MKCSF Receptor -> Nuclear hormone receptor;Transcription factor -> Nuclear hormone receptor Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Signal transduction -> Cell communication -> Steroid hormone-mediated signaling;Sensory perception;Developmental processes Homo sapiens RefSeq ILMN_138702 ILMN_3670 THRB NM_000461.3 NM_000461.3 7068 82546876 NM_000461.3 THRB NP_000452.2 ILMN_1696683 4180458 S 1434 CCCGGGGCTTGCCTGTGTTGAGAGAATAGAAAAGTACCAAGATAGTTTCC 3 - 24139566-24139615 3p24.2b "Homo sapiens thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) (THRB), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 1618799] [evidence TAS]" "Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process by which the heart decreases in volume in a characteristic way to propel blood through the body [goid 8016] [evidence IEA]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription [goid 16481] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]" "The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 1618799] [evidence NAS]; Combining with a steroid hormone to initiate a change in cell activity [goid 3707] [evidence IEA]; The function of a transcription cofactor that represses transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3714] [pmid 1618799] [evidence TAS]; Combining with thyroid hormone to initiate a change in cell activity [goid 4887] [pmid 1618799] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 7870181] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15100213] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15625236] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" MGC126110; THR1; THRB1; GRTH; ERBA-BETA; MGC126109; ERBA2; THRB2; NR1A2 THR1; MGC126109; MGC126110; THRB1; GRTH; ERBA-BETA; ERBA2; THRB2; NR1A2 Ligase -> Ubiquitin-protein ligase Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_26586 ILMN_26586 UBE3A NM_000462.2 NM_000462.2 7337 19718765 NM_000462.2 UBE3A NP_000453.2 ILMN_2391141 2360379 A 4332 CATGGGGTTTTTCTGGGCCAGCCTTTAGAACACTGTTAGGGTACATACGC 15 - 23133623-23133672 15q11.2e "Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]; Any macromolecular complex composed of two or more polypeptide subunits, which may or may not be identical. Protein complexes may have other associated non-protein prosthetic groups, such as nucleotides, metal ions or carbohydrate groups [goid 43234] [evidence IEA]" "The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 8221889] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [pmid 8221889] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [pmid 8988171] [evidence TAS]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]" "Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond with concomitant breakage of a diphosphate linkage, usually in a nucleoside triphosphate [goid 16881] [evidence IEA]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16493710] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond with concomitant breakage of a diphosphate linkage, usually in a nucleoside triphosphate [goid 16881] [evidence IEA]" EPVE6AP; AS; FLJ26981; ANCR; HPVE6A; E6-AP FLJ26981; ANCR; HPVE6A; EPVE6AP; E6-AP; AS Ligase -> Ubiquitin-protein ligase Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_1885 ILMN_26586 UBE3A NM_000462.2 NM_000462.2 7337 19718765 NM_000462.2 UBE3A NP_000453.2 ILMN_1764549 1990307 A 4395 GGGACCTTCGTGCAACTGTAGTCATCTTAAAGGCTTCTCATCCACTGTGC 15 - 23133560-23133609 15q11.2e "Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA." "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]; Any macromolecular complex composed of two or more polypeptide subunits, which may or may not be identical. Protein complexes may have other associated non-protein prosthetic groups, such as nucleotides, metal ions or carbohydrate groups [goid 43234] [evidence IEA]" "The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 8221889] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [pmid 8221889] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [pmid 8988171] [evidence TAS]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]" "Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond with concomitant breakage of a diphosphate linkage, usually in a nucleoside triphosphate [goid 16881] [evidence IEA]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16493710] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond with concomitant breakage of a diphosphate linkage, usually in a nucleoside triphosphate [goid 16881] [evidence IEA]" EPVE6AP; AS; FLJ26981; ANCR; HPVE6A; E6-AP FLJ26981; ANCR; HPVE6A; EPVE6AP; E6-AP; AS Transferase -> Glycosyltransferase Carbohydrate metabolism -> Other polysaccharide metabolism;Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Steroid hormone metabolism Homo sapiens RefSeq ILMN_28374 ILMN_28374 UGT1A1 NM_000463.2 NM_000463.2 54658 45827762 NM_000463.2 UGT1A1 NP_000454.1 ILMN_1744817 2630332 S 698 CCCCGTATGCAACCCTTGCCTCAGAATTCCTTCAGAGAGAGGTGACTGTC 2 + 234334355-234334404 2q37.1d "Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1), mRNA." "The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" " [goid 6789] [pmid 1339448] [evidence TAS]; The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism [goid 7586] [pmid 1898728] [evidence NAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving estrogens, C18 steroid hormones that can stimulate the development of female sexual characteristics. Also found in plants [goid 8210] [pmid 8780690] [evidence TAS]" Catalysis of the reaction: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside [goid 15020] [evidence IEA] GNT1; UGT1; UDPGT; UGT1*1; UGT1A; HUG-BR1 GNT1; UGT1; UDPGT; UGT1*1; UGT1A; HUG-BR1 Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_1301 ILMN_1301 BARD1 NM_000465.1 NM_000465.1 580 4557348 NM_000465.1 BARD1 NP_000456.1 ILMN_2074258 5080561 S 2300 TGTAATTATCACCCAGAGAGGGTTCGGCAGGGCAAAGTCTGGAAGGCTCC 2 - 215301702-215301751 2q35a "Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA." "A protein complex that includes a ubiquitin-protein ligase (E3) and other proteins that may confer substrate specificity on the complex [goid 151] [pmid 14976165] [evidence NAS]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 15265711] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 15632137] [evidence IMP]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 15265711] [evidence IDA]; A heterodimeric complex comprising BRCA1 and BARD1, which possesses ubiquitin ligase activity and is involved in genome maintenance, possibly by functioning in surveillance for DNA damage [goid 31436] [pmid 15265711] [evidence IDA]" "A homeostatic process involved in the maintenance of an internal equilibrium within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function [goid 1894] [pmid 15782130] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism [goid 6974] [pmid 15905410] [evidence NAS]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [pmid 15632137] [evidence NAS]; The process by which one or more ubiquitin moieties are added to a protein [goid 16567] [pmid 15905410] [evidence NAS]; Any process that stops, prevents or reduces the frequency, rate or extent of mRNA 3'-end processing [goid 31441] [pmid 15905410] [evidence NAS]; Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule [goid 42325] [pmid 15782130] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of cell death by apoptosis [goid 43065] [pmid 15782130] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [pmid 15265711] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds [goid 45732] [pmid 15905410] [evidence NAS]; Any process that stops, prevents or reduces the frequency, rate or extent of the directed movement of proteins from the nucleus into the cytoplasm [goid 46826] [pmid 15265711] [evidence IDA]" "Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 12419249] [evidence IDA]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [pmid 15905410] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15782130] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 8944023] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15265711] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10026184] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10477523] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15184379] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with a kinase, any enzyme that catalyzes the transfer of a phosphate group [goid 19900] [pmid 15782130] [evidence NAS]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 15265711] [evidence IPI]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 15265711] [evidence IPI]" Molecular function unclassified Intracellular protein traffic -> Peroxisome transport Homo sapiens RefSeq ILMN_5904 ILMN_5904 PEX1 NM_000466.1 NM_000466.1 5189 4505724 NM_000466.1 PEX1 NP_000457.1 ILMN_1748109 130647 S 3579 GCCTCCAGTGTTAAGGACAGCTTCACAAGAGGGTTGCCAAGAACTTACAC 7 - 91957031-91957080 7q21.2b "Homo sapiens peroxisome biogenesis factor 1 (PEX1), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9588209] [evidence IDA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 16854980] [evidence IDA]; The lipid bilayer surrounding a peroxisome [goid 5778] [pmid 11439091] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 16854980] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The import of proteins into the peroxisomal matrix. A peroxisome targeting signal (PTS) binds to a soluble receptor protein in the cytosol, and the resulting complex then binds to a receptor protein in the peroxisome membrane and is imported [goid 16558] [pmid 9398847] [evidence IMP]; The microtubule-based process by which a peroxisome is transported to, and/or maintained in, a specific location. A peroxisome is a small membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules [goid 60152] [pmid 16449325] [evidence IMP]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 16854980] [evidence IMP]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 16854980] [evidence IPI]; Catalysis of the reaction: a nucleoside triphosphate + H2O = nucleoside diphosphate + phosphate [goid 17111] [evidence IEA]; Interacting selectively with any protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 32403] [pmid 16854980] [evidence IDA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to directly drive some other reaction, for example ion transport across a membrane [goid 42623] [pmid 16854980] [evidence IMP]" ZWS1 ZWS1 Transcription factor -> Basic helix-loop-helix transcription factor;Nucleic acid binding Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes;Cell proliferation and differentiation Homo sapiens RefSeq ILMN_9324 ILMN_165750 TWIST1 NM_000474.3 NM_000474.3 7291 68160957 NM_000474.3 TWIST1 NP_000465.1 ILMN_1672908 4490673 S 1190 AGACGGGCAGCGGCACCATCCTCACACCTCTGCATTCTGATAGAAGTCTG 7 - 19206969-19207018 7p21.1a "Homo sapiens twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila) (TWIST1), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]" "Any process that modulates the frequency, rate or extent of the synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 45449] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 122] [pmid 10025406] [evidence TAS]; The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 8988166] [evidence TAS]; The characteristic movement of immature neurons from germinal zones to specific positions where they will reside as they mature [goid 1764] [evidence IEA]; The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline [goid 1843] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process by which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form [goid 9653] [pmid 8988166] [evidence TAS]; The process, occurring in the embryo, by which the anatomical structures of the forelimb are generated and organized. Morphogenesis pertains to the creation of form. The forelimbs are the front limbs of an animal [goid 35115] [evidence IEA]; The process by which the anatomical structures of the hindlimb are generated and organized. Morphogenesis pertains to the creation of form [goid 35137] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell differentiation [goid 45596] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of striated muscle development [goid 45843] [evidence IEA]" "Plays a role in regulating transcription; may bind a promoter or enhancer DNA sequence or interact with a DNA-binding transcription factor [goid 30528] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Stops, prevents or reduces the activity of an enzyme [goid 4857] [pmid 10025406] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 18598946] [evidence IPI]; Plays a role in regulating transcription; may bind a promoter or enhancer DNA sequence or interact with a DNA-binding transcription factor [goid 30528] [evidence IEA]" TWIST; ACS3; BPES2; SCS; BPES3 TWIST; ACS3; BPES2; SCS; BPES3 Receptor -> Nuclear hormone receptor;Transcription factor -> Nuclear hormone receptor;Nucleic acid binding Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Sex determination Homo sapiens RefSeq ILMN_9051 ILMN_9051 NR0B1 NM_000475.3 NM_000475.3 190 49574584 NM_000475.3 NR0B1 NP_000466.2 ILMN_1800160 940731 S 1221 CCAGTGGGGAACTCAGCAAATACTCAGTGAACACACCAGGATGACGCACC X - 30232771-30232820 Xp21.2a "Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 10848616] [evidence IDA]; That fraction of cells, prepared by disruptive biochemical methods, that is not soluble in water [goid 5626] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 17686645] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 16709599] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 17686645] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 17686645] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16709599] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 17686645] [evidence IDA]; A ribosome bound to mRNA that forms part of a polysome [goid 42788] [evidence IEA]; A ribosome bound to mRNA that forms part of a polysome [goid 42788] [pmid 10848616] [evidence IDA]" "Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 122] [evidence IEA]; The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification [goid 6694] [pmid 9384387] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation) [goid 6950] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [evidence IEA]; Any process by which a protein is transported to, or maintained in, a specific location [goid 8104] [pmid 11875111] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription [goid 16481] [evidence IEA]; The progression of the hypothalamus region of the forebrain, from its initial formation to its mature state [goid 21854] [pmid 15464421] [evidence NAS]; The progression of the pituitary gland over time from its initial formation until its mature state. The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [goid 21983] [pmid 15464421] [evidence NAS]; The specification of male sex of an individual organism [goid 30238] [evidence IEA]; The process whose specific outcome is the progression of the adrenal gland over time, from its formation to the mature structure. This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells [goid 30325] [evidence IEA]; The process whose specific outcome is the progression of the adrenal gland over time, from its formation to the mature structure. This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells [goid 30325] [pmid 7990953] [evidence IMP]; Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of any steroid hormone receptor signaling pathway [goid 33144] [pmid 11875111] [evidence IDA]; The process whereby a relatively unspecialized cell acquires specialized structural and/or functional features of a Leydig cell. A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis [goid 33327] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell differentiation [goid 45596] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized structural and/or functional features of a Sertoli cell. A Sertoli cell is a supporting cell projecting inward from the basement membrane of seminiferous tubules [goid 60008] [evidence IEA]" "The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Combining with a steroid hormone to initiate a change in cell activity [goid 3707] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; [goid 3706] [pmid 7990953] [evidence IDA]; Combining with a steroid hormone to initiate a change in cell activity [goid 3707] [evidence IEA]; The function of a transcription cofactor that represses transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3714] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 10848616] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; [goid 17163] [pmid 9384387] [evidence IDA]; Interacting selectively with a specific domain of a protein [goid 19904] [pmid 17686645] [evidence IPI]; Interacting selectively with a specific domain of a protein [goid 19904] [pmid 15100213] [evidence IPI]; Interacting selectively with DNA containing a hairpin. A hairpin structure forms when a DNA strand folds back on itself and intrachain base pairing occurs between inverted repeat sequences [goid 32448] [pmid 9384387] [evidence IDA]; Interacting selectively with a steroid hormone receptor [goid 35258] [pmid 11875111] [evidence IPI]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 16709599] [evidence IPI]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [pmid 9384387] [evidence IDA]; Interacting selectively with the AF-2 domain of a protein, a highly conserved ligand-dependent transactivation domain which is essential for receptor-mediated transcriptional activation [goid 50682] [pmid 17686645] [evidence IPI]" AHC; NROB1; AHX; DSS; AHCH; GTD; DAX-1; DAX1; HHG AHC; NROB1; AHX; DSS; AHCH; GTD; DAX-1; DAX1; HHG Kinase -> Nucleotide kinase Nucleoside, nucleotide and nucleic acid metabolism Homo sapiens RefSeq ILMN_16785 ILMN_16785 AK1 NM_000476.1 NM_000476.1 203 4502010 NM_000476.1 AK1 NP_000467.1 ILMN_1779965 5130162 S 1992 CACGTGTCCTTAACACCTGATCTGGCCCAAGCTGCGTGCCCTTTAAGCCA 9 - 129668725-129668774 9q34.11a "Homo sapiens adenylate kinase 1 (AK1), mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 2542324] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 211388] [evidence EXP]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]" "The chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids [goid 6139] [evidence IEA]; The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator [goid 46034] [evidence IEA]; The chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids [goid 6139] [evidence IEA]; The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator [goid 46034] [evidence IEA]; The chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids [goid 6139] [evidence IEA]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + AMP = 2 ADP [goid 4017] [pmid 2542324] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: ATP + nucleoside = ADP + nucleoside monophosphate [goid 19206] [pmid 2542324] [evidence EXP]; Catalysis of the reaction: ATP + nucleoside = ADP + nucleoside monophosphate [goid 19206] [pmid 211388] [evidence EXP]; Catalysis of the reaction: ATP + AMP = 2 ADP [goid 4017] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP or GTP, to a nucleobase, nucleoside, nucleotide or polynucleotide substrate [goid 19205] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP or GTP, to a nucleobase, nucleoside, nucleotide or polynucleotide substrate [goid 19205] [evidence IEA]" Transfer/carrier protein -> Other transfer/carrier protein Transport Homo sapiens RefSeq ILMN_28973 ILMN_28973 ALB NM_000477.3 NM_000477.3 213 8392890 NM_000477.3 ALB NP_000468.1 ILMN_1782939 650431 S 1779 GAAGTGCTGCAAGGCTGACGATAAGGAGACCTGCTTTGCCGAGGAGGGTA 4 + 74504175-74504220:74504835-74504838 4q13.3d "Homo sapiens albumin (ALB), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 11159893] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8132774] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 6457647] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 7557095] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]; The volume enclosed by the membrane of the platelet alpha granule [goid 31093] [pmid 6457647] [evidence EXP]; Any macromolecular complex composed of two or more polypeptide subunits, which may or may not be identical. Protein complexes may have other associated non-protein prosthetic groups, such as nucleotides, metal ions or carbohydrate groups [goid 43234] [pmid 16283771] [evidence IDA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [pmid 12617161] [evidence TAS]; A change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of nourishment [goid 9267] [pmid 16245148] [evidence IDA]; The cytolytic destruction of red blood cells, with the release of intracellular hemoglobin, in the host organism by a symbiont. The host is defined as the larger of the organisms involved in a symbiotic interaction [goid 19836] [pmid 16394536] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [pmid 16153637] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of non-apoptotic programmed cell death, cell death resulting from activation of endogenous cellular processes, by a mechanism other than apoptosis [goid 43072] [pmid 14726550] [evidence NAS]; Any process by which a mitochondrion is maintained in a specific location within a cell and prevented from moving elsewhere [goid 51659] [pmid 16153637] [evidence IDA]" "Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 16405401] [evidence IDA]; Interacting selectively with fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis [goid 5504] [pmid 16289007] [evidence IDA]; Interacting selectively with fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis [goid 5504] [pmid 9731778] [evidence NAS]; Interacting selectively with fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis [goid 5504] [pmid 16413837] [evidence IDA]; Interacting selectively with copper (Cu) ions [goid 5507] [pmid 14726550] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16099937] [evidence IPI]; Interacting selectively with a drug, any naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism; in particular, any such substance used in the diagnosis, prevention, or treatment of disease [goid 8144] [pmid 10940303] [evidence NAS]; Interacting selectively with a drug, any naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism; in particular, any such substance used in the diagnosis, prevention, or treatment of disease [goid 8144] [pmid 16169013] [evidence IDA]; Interacting selectively with a drug, any naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism; in particular, any such substance used in the diagnosis, prevention, or treatment of disease [goid 8144] [pmid 16307046] [evidence IDA]; Interacting selectively with a drug, any naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism; in particular, any such substance used in the diagnosis, prevention, or treatment of disease [goid 8144] [pmid 16413740] [evidence IDA]; Interacting selectively with a drug, any naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism; in particular, any such substance used in the diagnosis, prevention, or treatment of disease [goid 8144] [pmid 16413734] [evidence IDA]; Interacting selectively with a toxin, a poisonous substance that causes damage to biological systems. Toxins are differentiated from simple chemical poisons and vegetable alkaloids by their high molecular weight and antigenicity (they elicit an antibody response) [goid 15643] [pmid 16169013] [evidence IDA]; Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage [goid 16209] [pmid 14726550] [evidence NAS]; Interacting selectively with oxygen (O2) [goid 19825] [pmid 16283771] [evidence IDA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [pmid 16201370] [evidence IDA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" PRO1341; DKFZp779N1935; PRO0903; PRO0883 PRO1341; DKFZp779N1935; PRO0903; PRO0883 Phosphatase -> Other phosphatase Developmental processes -> Mesoderm development -> Skeletal development Homo sapiens RefSeq ILMN_4097 ILMN_169862 ALPL NM_000478.3 NM_000478.3 249 116734716 NM_000478.3 ALPL NP_000469.3 ILMN_1701603 5700070 S 2442 TCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACT 1 + 21777338-21777387 1p36.12b "Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA." "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Tethered to a membrane by a covalently attached anchor, such as a lipid moiety, that is embedded in the membrane. When used to describe a protein, indicates that none of the peptide sequence is embedded in the membrane [goid 31225] [evidence IEA]" "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 9781036] [evidence TAS]; The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance [goid 1503] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum [goid 4035] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum [goid 4035] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" AP-TNAP; TNAP; MGC161443; TNSALP; HOPS; FLJ40094 TNSALP; HOPS; FLJ40094; AP-TNAP; TNAP; MGC161443 Signaling molecule -> Growth factor Developmental processes -> Mesoderm development Homo sapiens RefSeq ILMN_11643 ILMN_171371 AMH NM_000479.2 NM_000479.2 268 6138973 NM_000479.2 AMH NP_000470.1 ILMN_1660995 3780156 S 1816 CTCATCAGCCTGTCGGAGGAACGCATCAGCGCGCACCACGTGCCCAACAT 19 + 2202879-2202928 19p13.3g "Homo sapiens anti-Mullerian hormone (AMH), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14750901] [evidence NAS]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 3754790] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The process by which the Mullerian ducts, primordia of the oviducts, uterus and upper vagina, undergo regression in male embryos [goid 1880] [pmid 14750901] [evidence NAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 3754790] [evidence TAS]; The process whose specific outcome is the progression of the gonadal mesoderm over time, from its formation to the mature structure. The gonadal mesoderm is the middle layer of the three primary germ layers of the embryo which will go on to form the gonads of the organism [goid 7506] [evidence IEA]; Any process that establishes and transmits the specification of sexual status of an individual organism [goid 7530] [pmid 3754790] [evidence TAS]; The establishment of the sex of an organism by physical differentiation [goid 7548] [pmid 12834017] [evidence TAS]" "The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [pmid 3754790] [evidence TAS]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [evidence IEA]" MIF; MIS MIF; MIS Hydrolase -> Deaminase Nucleoside, nucleotide and nucleic acid metabolism -> Purine metabolism Homo sapiens RefSeq ILMN_13998 ILMN_13998 AMPD3 NM_000480.2 NM_000480.2 272 70906424 NM_000480.2 AMPD3 NP_000471.1 ILMN_1660854 990576 I 288 CTCTGCCCAGCGCGTCCCCTTTGCTCCAGCCCTGCGGCCGTCCCTTTCGG 11 + 10429087-10429136 11p15.4a "Homo sapiens adenosine monophosphate deaminase (isoform E) (AMPD3), transcript variant 1, mRNA." "The chemical reactions and pathways resulting in the breakdown of AMP, adenosine monophosphate [goid 6196] [pmid 9291127] [evidence TAS]; The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates) [goid 9117] [evidence IEA]; The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a glycosamine consisting of a purine base linked to a ribose sugar esterified with phosphate on its glycose moiety [goid 9168] [evidence IEA]" "Catalysis of the reaction: AMP + H2O = IMP + NH3 [goid 3876] [pmid 9291127] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" Hydrolase -> Deaminase Nucleoside, nucleotide and nucleic acid metabolism -> Purine metabolism Homo sapiens RefSeq ILMN_13634 ILMN_13998 AMPD3 NM_000480.2 NM_000480.2 272 70906424 NM_000480.2 AMPD3 NP_000471.1 ILMN_1774447 150504 A 4116 GCCTGTCCCCTCCACTGGTCAATTCAGCATATGGAAGTATAAATGCAGTC 11 + 10485447-10485496 11p15.4a "Homo sapiens adenosine monophosphate deaminase (isoform E) (AMPD3), transcript variant 1, mRNA." "The chemical reactions and pathways resulting in the breakdown of AMP, adenosine monophosphate [goid 6196] [pmid 9291127] [evidence TAS]; The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates) [goid 9117] [evidence IEA]; The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a glycosamine consisting of a purine base linked to a ribose sugar esterified with phosphate on its glycose moiety [goid 9168] [evidence IEA]" "Catalysis of the reaction: AMP + H2O = IMP + NH3 [goid 3876] [pmid 9291127] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" Oxidoreductase -> Dehydrogenase Amino acid metabolism -> Amino acid catabolism;Other metabolism Homo sapiens RefSeq ILMN_11202 ILMN_11202 AMT NM_000481.2 NM_000481.2 275 44662837 NM_000481.2 AMT NP_000472.2 ILMN_1665331 940450 S 1942 CCATGGCAGACTCACCACCTATTCTGAGTTCCAGGGCTGCTGTAGGGCAG 3 - 49429326-49429375 3p21.31d "Homo sapiens aminomethyltransferase (AMT), mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 8188235] [evidence TAS]" "The chemical reactions and pathways resulting in the breakdown of glycine, aminoethanoic acid [goid 6546] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of glycine, aminoethanoic acid [goid 6546] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of glycine, aminoethanoic acid [goid 6546] [pmid 9600239] [evidence TAS]" "Catalysis of the reaction: (6S)-tetrahydrofolate + S-aminomethyldihydrolipoylprotein = (6R)-5,10-methylenetetrahydrofolate + NH3 + dihydrolipoylprotein [goid 4047] [evidence IEA]; Catalysis of the reaction: (6S)-tetrahydrofolate + S-aminomethyldihydrolipoylprotein = (6R)-5,10-methylenetetrahydrofolate + NH3 + dihydrolipoylprotein [goid 4047] [evidence IEA]; Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid [goid 8483] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: (6S)-tetrahydrofolate + S-aminomethyldihydrolipoylprotein = (6R)-5,10-methylenetetrahydrofolate + NH3 + dihydrolipoylprotein [goid 4047] [evidence IEA]; Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid [goid 8483] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]" NKH; GCE; GCST GCST; NKH; GCE Transporter;Transfer/carrier protein -> Apolipoprotein Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport;Blood circulation and gas exchange Homo sapiens RefSeq ILMN_13361 ILMN_165411 APOA4 NM_000482.3 NM_000482.3 337 71773109 NM_000482.3 APOA4 NP_000473.2 ILMN_1675706 3780468 S 1113 GAAGGCCACTTGAGCTTCCTGGAGAAGGACCTGAGGGACAAGGTCAACTC 11 - 116196925-116196974 11q23.3b "Homo sapiens apolipoprotein A-IV (APOA4), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 4345202] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 12692552] [evidence EXP]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 1935934] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The volume enclosed by the membranes of the endoplasmic reticulum [goid 5788] [pmid 12692552] [evidence EXP]; A triglyceride-rich lipoprotein particle that is typically composed of APOB100, APOE and APOCs and has a density of about 1.006 g/ml and a diameter of between 20-80 nm. It is found in blood and transports endogenous products (newly synthesized cholesterol and triglycerides) from the liver [goid 34361] [pmid 3095477] [evidence IDA]; A lipoprotein particle with a high density (typically 1.063-1.21 g/ml) and a diameter of 5-10 nm that contains APOAs and may contain APOCs and APOE; found in blood and carries lipids from body tissues to the liver as part of the reverse cholesterol transport process [goid 34364] [pmid 3095477] [evidence IDA]; A large lipoprotein particle (diameter 75-1200 nm) composed of a central core of triglycerides and cholesterol surrounded by a protein-phospholipid coating. The proteins include one molecule of apolipoprotein B-48 and may include a variety of apolipoproteins, including APOAs, APOCs and APOE. Chylomicrons are found in blood or lymph and carry lipids from the intestines into other body tissues [goid 42627] [evidence IEA]" "The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The chemical reactions and pathways involving any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 42157] [evidence IEA]; Any process of the innate immune response that takes place in the mucosal tissues [goid 2227] [pmid 15254593] [evidence IDA]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid hydroperoxide stimulus. Lipid hydroperoxide is the highly reactive primary oxygenated products of polyunsaturated fatty acids [goid 6982] [pmid 16945374] [evidence IDA]; The attachment of a leukocyte to another cell via adhesion molecules [goid 7159] [pmid 15254593] [evidence IDA]; The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues [goid 8203] [pmid 1935934] [evidence IDA]; Any process involved in removing superoxide radicals (O2-) from a cell or organism, e.g. by conversion to dioxygen (O2) and hydrogen peroxide (H2O2) [goid 19430] [pmid 16945374] [evidence IDA]; Any process that modulates the frequency, rate or extent of the directed movement of cholesterol into, out of, within or between cells [goid 32374] [pmid 11940599] [evidence IDA]; The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle [goid 33344] [pmid 11162594] [evidence IDA]; The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle [goid 33344] [pmid 1935934] [evidence IDA]; The directed movement of a phospholipid out of a cell or organelle [goid 33700] [pmid 11162594] [evidence IDA]; Any process that stops, prevents, or reduces the frequency, rate or extent of lipoprotein oxidation, occurring in the blood plasma [goid 34445] [pmid 16945374] [evidence IDA]; The chemical reactions and pathways involving any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 42157] [evidence IEA]; Any process involved in the maintenance of an internal equilibrium of cholesterol within an organism or cell [goid 42632] [pmid 1935934] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of hydrogen peroxide (H2O2) [goid 42744] [pmid 16945374] [evidence IDA]; The directed movement of periperal cell cholesterol, cholest-5-en-3-beta-ol, towards the liver for catabolism [goid 43691] [pmid 3095477] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of lipids, occurring at the tissue, organ, or organismal level of a multicellular organism [goid 44240] [pmid 3095477] [evidence IDA]; The chemical reactions and pathways involving phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline. They are important constituents of cell membranes [goid 46470] [pmid 1935934] [evidence IDA]; Any process involved in the maintenance of an internal equilibrium of lipid within an organism or cell [goid 55088] [pmid 3095477] [evidence IDA]; The aggregation, arrangement and bonding together of proteins and lipids to form a protein-lipid complex [goid 65005] [pmid 16159879] [evidence IMP]" "Interacting selectively with a lipid [goid 8289] [evidence IEA]; Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [pmid 3080432] [evidence TAS]; Interacting selectively with copper (Cu) ions [goid 5507] [pmid 16945374] [evidence IDA]; Interacting selectively with a lipid [goid 8289] [evidence IEA]; Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage [goid 16209] [pmid 16945374] [evidence IDA]; Enables the directed movement of cholesterol into, out of, within or between cells. Cholesterol is the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 17127] [pmid 1935934] [evidence IDA]; Interacting selectively with phosphatidylcholine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of choline [goid 31210] [pmid 11940599] [evidence IDA]; Interacting selectively with phosphatidylcholine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of choline [goid 31210] [pmid 1935934] [evidence IDA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 1935934] [evidence IDA]; Interacting selectively with any component on the surface of a eukaryotic cell [goid 43499] [pmid 1935934] [evidence IDA]; Increases the activity of phosphatidylcholine-sterol O-acyltransferase, an enzyme that converts cholesterol and phosphatidylcholine (lecithins) to cholesteryl esters and lyso-phosphatidylcholines [goid 60228] [pmid 1935934] [evidence IDA]" MGC142154; MGC142156 MGC142154; MGC142156 Transporter;Transfer/carrier protein -> Apolipoprotein;Hydrolase -> Lipase Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport;Lipid, fatty acid and steroid metabolism -> Lipid metabolism Homo sapiens RefSeq ILMN_26723 ILMN_26723 APOC2 NM_000483.3 NM_000483.3 344 32130517 NM_000483.3 APOC2 NP_000474.2 ILMN_1802923 3800403 S 395 AAGGGAGAGGAGTAACAGCCAGACCCCCCATCAGTGGACAAGGGGAGAGT 19 + 50144332-50144346:50144347-50144381 19q13.32a "Homo sapiens apolipoprotein C-II (APOC2), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 4345202] [evidence EXP]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 10727238] [evidence IDA]; A triglyceride-rich lipoprotein particle that is typically composed of APOB100, APOE and APOCs and has a density of about 1.006 g/ml and a diameter of between 20-80 nm. It is found in blood and transports endogenous products (newly synthesized cholesterol and triglycerides) from the liver [goid 34361] [pmid 8245722] [evidence IDA]; A lipoprotein particle, rich in cholesterol esters and low in triglycerides that is typically composed of APOB100 and APOE and has a density of 1.02-1.06 g/ml and a diameter of between 20-25 nm. LDL particles are formed from VLDL particles (via IDL) by the loss of triacylglycerol and gain of cholesterol ester. They transport endogenous cholesterol (and to some extent triglycerides) from peripheral tissues back to the liver [goid 34362] [pmid 8245722] [evidence IDA]; A triglyceride-rich lipoprotein particle that typically contains APOB100, APOE and APOCs and has a density of 1.006-1.019 g/ml and a diameter of between 25-30 nm. IDL particles are found in blood and are formed by the delipidation of very-low-density lipoprotein particles (VLDL). IDL particles are removed from blood by the liver, following binding to the APOE receptor, or are converted to low-density lipoprotein (LDL) [goid 34363] [pmid 17336988] [evidence IDA]; A large lipoprotein particle (diameter 75-1200 nm) composed of a central core of triglycerides and cholesterol surrounded by a protein-phospholipid coating. The proteins include one molecule of apolipoprotein B-48 and may include a variety of apolipoproteins, including APOAs, APOCs and APOE. Chylomicrons are found in blood or lymph and carry lipids from the intestines into other body tissues [goid 42627] [evidence IEA]" "The chemical reactions and pathways involving triacylglycerol, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triacylglycerols are important components of plant oils, animal fats and animal plasma lipoproteins [goid 6641] [pmid 10727238] [evidence IDA]; The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester [goid 6644] [pmid 10727238] [evidence IDA]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]; The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle [goid 33344] [pmid 11162594] [evidence IDA]; The directed movement of a phospholipid out of a cell or organelle [goid 33700] [pmid 11162594] [evidence IDA]; Any process that activates or increases the activity of the enzyme lipoprotein lipase [goid 51006] [pmid 15878877] [evidence IDA]; Any process that activates or increases the activity of the enzyme lipoprotein lipase [goid 51006] [pmid 10727238] [evidence IDA]" "Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]; Increases the activity of an enzyme [goid 8047] [evidence IEA]; Interacting selectively with a lipid [goid 8289] [pmid 10727238] [evidence IDA]; Increases the activity of a phospholipase, an enzyme that catalyzes of the hydrolysis of a glycerophospholipid [goid 16004] [pmid 10727238] [evidence IDA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 8245722] [evidence IMP]; Interacting selectively with any phospholipase, enzymes that catalyze of the hydrolysis of a glycerophospholipid [goid 43274] [pmid 10727238] [evidence IPI]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 8245722] [evidence IMP]; Increases the activity of a lipoprotein lipase, an enzyme that catalyzes of the hydrolysis of a lipid within a lipoprotein [goid 60230] [pmid 10727238] [evidence IDA]" MGC75082 MGC75082 Signaling molecule -> Other signaling molecule Signal transduction -> Other signal transduction;Signal transduction -> Cell communication;Intracellular protein traffic -> Other intracellular protein traffic Homo sapiens RefSeq ILMN_30235 ILMN_30235 APP NM_000484.2 NM_000484.2 351 41406053 NM_000484.2 APP NP_000475.1 ILMN_1653283 1190735 I 1229 GTCCCAAAGTTTACTCAAGACTACCCAGGAACCTCTTGCCCGAGATCCTG 21 - 26291551-26291600 21q21.3a "Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2110384] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 10806211] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 18029348] [evidence IDA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10806211] [evidence TAS]; An invagination of the cell membrane of many eukaryotic cells, concerned in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane. During endocytosis it is converted into a coated vesicle. The coat is of clathrin [goid 5905] [evidence IEA]; The external part of the cell wall and/or plasma membrane [goid 9986] [pmid 7593229] [evidence IDA]; The volume enclosed by the membrane of the platelet alpha granule [goid 31093] [pmid 2110384] [evidence EXP]" "The regulation of the levels, transport, and metabolism of copper ions within a cell or between a cell and its external environment [goid 6878] [pmid 15910549] [evidence TAS]; A type of vesicle-mediated transport in which cells take up external materials or membrane constituents by the invagination of small region of the plasma membrane to form a new membrane-bounded vesicle [goid 6897] [evidence IEA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The series of molecular signals initiated by binding of an extracellular ligand to a Notch receptor on the surface of the target cell [goid 7219] [evidence IEA]; Any process pertaining to the functions of the nervous and muscular systems of an organism [goid 50905] [pmid 7593229] [evidence NAS]" "Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [pmid 10652580] [evidence IDA]; Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [pmid 11279603] [evidence NAS]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Interacting selectively with copper (Cu) ions [goid 5507] [evidence IEA]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with an acetylcholine receptor [goid 33130] [pmid 10681545] [evidence IPI]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 16286452] [evidence IPI]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" AD1; ABETA; CTFgamma; APPI; ABPP; CVAP; PN2; AAA AD1; ABETA; CTFgamma; APPI; ABPP; CVAP; PN2; AAA Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_4221 ILMN_4221 APRT NM_000485.2 NM_000485.2 353 71773149 NM_000485.2 APRT NP_000476.1 ILMN_1722491 160746 I 479 TGAGGTCCTGGAGTGCGTGAGCCTGGTGGAGCTGACCTCGCTTAAGGGCA 16 - 87403656-87403705 16q24.3a "Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16130169] [evidence TAS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 457664] [evidence EXP]" "Any process which produces a purine nucleoside from derivatives of it, without de novo synthesis [goid 6166] [evidence IEA]; Any process that generates adenine, 6-aminopurine, from derivatives of it without de novo synthesis [goid 6168] [evidence IEA]; The specific actions or reactions of an organism relating to grooming, cleaning and brushing to remove dirt and parasites [goid 7625] [evidence IEA]; Any process which produces a purine nucleoside from derivatives of it, without de novo synthesis [goid 6166] [evidence IEA]; Any process that generates adenine, 6-aminopurine, from derivatives of it without de novo synthesis [goid 6168] [evidence IEA]; The specific actions or reactions of an organism relating to grooming, cleaning and brushing to remove dirt and parasites [goid 7625] [evidence IEA]; The chemical reactions and pathways involving a nucleoside, a nucleobase linked to either beta-D-ribofuranose (ribonucleoside) or 2-deoxy-beta-D-ribofuranose, (a deoxyribonucleotide), e.g. adenosine, guanosine, inosine, cytidine, uridine and deoxyadenosine, deoxyguanosine, deoxycytidine and thymidine (= deoxythymidine) [goid 9116] [evidence IEA]" "Interacting selectively with adenine, a purine base [goid 2055] [evidence IEA]; Catalysis of the reaction: AMP + diphosphate = adenine + 5-phospho-alpha-D-ribose 1-diphosphate [goid 3999] [evidence IEA]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]; Interacting selectively with adenine, a purine base [goid 2055] [evidence IEA]; Catalysis of the reaction: AMP + diphosphate = adenine + 5-phospho-alpha-D-ribose 1-diphosphate [goid 3999] [pmid 457664] [evidence EXP]; Catalysis of the reaction: AMP + diphosphate = adenine + 5-phospho-alpha-D-ribose 1-diphosphate [goid 3999] [pmid 3531209] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with AMP, adenosine monophosphate [goid 16208] [pmid 15196008] [evidence IDA]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]" MGC125857; AMP; MGC125856; DKFZp686D13177; MGC129961 MGC125857; AMP; MGC125856; DKFZp686D13177; MGC129961 Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_4540 ILMN_4221 APRT NM_000485.2 NM_000485.2 353 71773149 NM_000485.2 APRT NP_000476.1 ILMN_1726410 6510603 A 339 TCCCTGGAGTACGGGAAGGCTGAGCTGGAGATTCAGAAAGACGCCCTGGA 16 - 87404025-87404057:87404332-87404348 16q24.3a "Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA." "All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16130169] [evidence TAS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 457664] [evidence EXP]" "Any process which produces a purine nucleoside from derivatives of it, without de novo synthesis [goid 6166] [evidence IEA]; Any process that generates adenine, 6-aminopurine, from derivatives of it without de novo synthesis [goid 6168] [evidence IEA]; The specific actions or reactions of an organism relating to grooming, cleaning and brushing to remove dirt and parasites [goid 7625] [evidence IEA]; Any process which produces a purine nucleoside from derivatives of it, without de novo synthesis [goid 6166] [evidence IEA]; Any process that generates adenine, 6-aminopurine, from derivatives of it without de novo synthesis [goid 6168] [evidence IEA]; The specific actions or reactions of an organism relating to grooming, cleaning and brushing to remove dirt and parasites [goid 7625] [evidence IEA]; The chemical reactions and pathways involving a nucleoside, a nucleobase linked to either beta-D-ribofuranose (ribonucleoside) or 2-deoxy-beta-D-ribofuranose, (a deoxyribonucleotide), e.g. adenosine, guanosine, inosine, cytidine, uridine and deoxyadenosine, deoxyguanosine, deoxycytidine and thymidine (= deoxythymidine) [goid 9116] [evidence IEA]" "Interacting selectively with adenine, a purine base [goid 2055] [evidence IEA]; Catalysis of the reaction: AMP + diphosphate = adenine + 5-phospho-alpha-D-ribose 1-diphosphate [goid 3999] [evidence IEA]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]; Interacting selectively with adenine, a purine base [goid 2055] [evidence IEA]; Catalysis of the reaction: AMP + diphosphate = adenine + 5-phospho-alpha-D-ribose 1-diphosphate [goid 3999] [pmid 457664] [evidence EXP]; Catalysis of the reaction: AMP + diphosphate = adenine + 5-phospho-alpha-D-ribose 1-diphosphate [goid 3999] [pmid 3531209] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with AMP, adenosine monophosphate [goid 16208] [pmid 15196008] [evidence IDA]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]" MGC125857; AMP; MGC125856; DKFZp686D13177; MGC129961 MGC125857; AMP; MGC125856; DKFZp686D13177; MGC129961 Transporter -> Other transporter Transport -> Other transport;Homeostasis -> Other homeostasis activities Homo sapiens RefSeq ILMN_10224 ILMN_10224 AQP2 NM_000486.3 NM_000486.3 359 33624912 NM_000486.3 AQP2 NP_000477.1 ILMN_1732149 4480079 S 4070 TGGGGACAAGGGCTGCTTCCAGTTCTTGGATGGCGTTCTCCTATCTACCT 12 + 48638827-48638876 12q13.13a "Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA." "That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 7532304] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The region of the plasma membrane located at the apical end of the cell [goid 16324] [evidence ISS]; The lipid bilayer surrounding a cytoplasmic vesicle [goid 30659] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]" "The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of water (H2O) into, out of, within or between cells [goid 6833] [pmid 8140421] [evidence TAS]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 7532304] [evidence TAS]" "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Transport systems of this type catalyze facilitated diffusion of water (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 15250] [pmid 7532304] [evidence TAS]" AQP-CD; MGC34501; WCH-CD AQP-CD; MGC34501; WCH-CD Hydrolase -> Other hydrolase Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism;Sulfur metabolism Homo sapiens RefSeq ILMN_17279 ILMN_17279 ARSA NM_000487.3 NM_000487.3 410 7262293 NM_000487.3 ARSA NP_000478.2 ILMN_2047240 4150168 S 1946 CTGTGGGGGAGGCTCAGGTGTCTGGAGGGGGTTTGTGCCTGATAACGTAA 22 - 49410342-49410391 22q13.33b "Homo sapiens arylsulfatase A (ARSA), mRNA." "Integral to that fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes; require detergents, such as Triton X-100, to be released from membranes [goid 299] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [pmid 2562955] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]" "The process by which the sperm binds to the zona pellucida glycoprotein layer of the egg. The process begins with the attachment of the sperm plasma membrane to the zona pellucida and includes attachment of the acrosome inner membrane to the zona pellucida after the acrosomal reaction takes place [goid 7339] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: a phenol sulfate + H2O = a phenol + SO4(2-) (sulfate) [goid 4065] [pmid 2562955] [evidence TAS]; Catalysis of the reaction: a cerebroside 3-sulfate + H2O = a cerebroside + SO4(2-) (sulfate) [goid 4098] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]" MLD MLD Select regulatory molecule -> Protease inhibitor -> Serine protease inhibitor Protein metabolism and modification -> Proteolysis Homo sapiens RefSeq ILMN_18442 ILMN_18442 SERPINC1 NM_000488.2 NM_000488.2 462 50541941 NM_000488.2 SERPINC1 NP_000479.1 ILMN_1762605 1050563 S 1342 TGCTGGCCGTTCGCTAAACCCCAACAGGGTGACTTTCAAGGCCAACAGGC 1 - 172139729-172139778 1q25.1a "Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 12907439] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 12907439] [evidence EXP] "The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [evidence IEA]" "Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [pmid 12878203] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12878203] [evidence IPI]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [evidence IEA]" ATIII; MGC22579; AT3 ATIII; AT3; MGC22579 Nucleic acid binding -> Helicase -> DNA helicase Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation Homo sapiens RefSeq ILMN_9682 ILMN_9682 ATRX NM_000489.2 NM_000489.2 546 20336208 NM_000489.2 ATRX NP_000480.2 ILMN_2334256 3420156 A 9667 TTAAAGATAATACTTAGAAGGGTTAATTGGAAATCAGAGTTTGAAATAAA X - 76648462-76648511 Xq21.1a "Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) (ATRX), transcript variant 1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 7874112] [evidence TAS]; A condensed form of chromatin, occurring in the nucleus during interphase, that stains strongly with basophilic dyes. The DNA of heterochromatin is typically replicated at a later stage in the cell-division cycle than euchromatin [goid 5720] [pmid 10570185] [evidence TAS]" "The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [pmid 7697714] [evidence TAS]; The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine [goid 6306] [pmid 10742099] [evidence TAS]; Any process by which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Intrachromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction [goid 6310] [pmid 7697714] [evidence TAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 7697714] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]" "Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the reaction: NTP + H2O = NDP + phosphate to drive the unwinding of a DNA helix [goid 3678] [pmid 7697714] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12953102] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" XNP; ZNF-HX; MRXHF1; XH2; ATR2; SFM1; SHS; MRXS3; RAD54L; RAD54; MGC2094 XNP; ZNF-HX; MRXHF1; XH2; ATR2; SFM1; SHS; MRXS3; RAD54L; RAD54; MGC2094 Nucleic acid binding -> Helicase -> DNA helicase Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation Homo sapiens RefSeq ILMN_16109 ILMN_9682 ATRX NM_000489.3 NM_000489.3 546 130979463 NM_000489.3 ATRX NP_000480.2 ILMN_1666885 2340600 A 203 CAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAG X - 76859376-76859376:76928124-76928143:76928144-76928172 Xq21.1a "Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) (ATRX), transcript variant 1, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 7874112] [evidence TAS]; A condensed form of chromatin, occurring in the nucleus during interphase, that stains strongly with basophilic dyes. The DNA of heterochromatin is typically replicated at a later stage in the cell-division cycle than euchromatin [goid 5720] [pmid 10570185] [evidence TAS]" "The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [pmid 7697714] [evidence TAS]; The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine [goid 6306] [pmid 10742099] [evidence TAS]; Any process by which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Intrachromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction [goid 6310] [pmid 7697714] [evidence TAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 7697714] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]" "Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the reaction: NTP + H2O = NDP + phosphate to drive the unwinding of a DNA helix [goid 3678] [pmid 7697714] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12953102] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" XNP; ZNF-HX; MRXHF1; XH2; ATR2; SFM1; SHS; MRXS3; RAD54L; RAD54; MGC2094 XNP; ZNF-HX; MRXHF1; XH2; ATR2; SFM1; SHS; MRXS3; RAD54L; RAD54; MGC2094 Signaling molecule -> Peptide hormone -> Neuropeptide Signal transduction -> Cell communication -> Steroid hormone-mediated signaling;Muscle contraction Homo sapiens RefSeq ILMN_20332 ILMN_20332 AVP NM_000490.3 NM_000490.3 551 50959227 NM_000490.3 AVP NP_000481.2 ILMN_2230117 580397 S 572 TCTTCGCGCCCGCCCCTGCAGCACGGACAATAAACCTCCGCCAATGCAAA 20p13c "Homo sapiens arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) (AVP), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [pmid 1740104] [evidence TAS]" "The process of renal water excretion [goid 30146] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of the nucleotide cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) [goid 30819] [evidence IEA]; The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 1740104] [evidence TAS]; The directed movement of water (H2O) into, out of, within or between cells [goid 6833] [pmid 1740104] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8794883] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 1740104] [evidence TAS]; A decrease in the diameter of blood vessels, especially arteries, usually causing an increase in blood pressure [goid 42310] [evidence IEA]" [goid 5185] [evidence IEA]; [goid 5185] [evidence IEA] AVRP; ADH; AVP-NPII; VP; ARVP AVRP; ADH; AVP-NPII; VP; ARVP Defense/immunity protein -> Complement component Immunity and defense -> Complement-mediated immunity Homo sapiens RefSeq ILMN_138070 ILMN_36274 C1QB NM_000491.3 NM_000491.3 713 87298827 NM_000491.3 C1QB NP_000482.3 ILMN_1796409 5910019 S 805 CAGGCCACCGACAAGAACTCACTACTGGGCATGGAGGGTGCCAACAGCAT 1 + 22860377-22860426 1p36.12a "Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 1249422] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 814163] [evidence EXP]; A protein complex composed of six subunits of C1q, each formed of the three homologous polypeptide chains C1QA, C1QB, and C1QB, and tetramer of two C1QR and two C1QS polypeptide chains [goid 5602] [pmid 1706597] [evidence TAS]" "Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes [goid 6958] [evidence IEA]; Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens [goid 45087] [evidence IEA]" Ion channel -> Anion channel Transport -> Ion transport Homo sapiens RefSeq ILMN_138636 ILMN_180588 CFTR NM_000492.3 NM_000492.3 1080 90421312 NM_000492.3 CFTR NP_000483.3 ILMN_1705813 5870131 S 5877 AACCAGGGGCCATGAATCACCTTTTGGTCTGGAGGGAAGCCTTGGGGCTG 7 + 116703899-116703948 7q31.2c "Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA." "Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis [goid 16323] [pmid 11707463] [evidence NAS]; The region of the plasma membrane located at the apical end of the cell [goid 16324] [pmid 15247260] [evidence IDA]" "The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms [goid 7585] [pmid 9875854] [evidence TAS]" "Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5254] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to directly drive the active transport of a substance across a membrane [goid 42626] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5254] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; [goid 5224] [pmid 10581360] [evidence TAS]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O = ADP + phosphate. An animal enzyme that is active in forming a chloride channel, the absence of which brings about cystic fibrosis. It is also involved in the functioning of other transmembrane channels [goid 5260] [pmid 11707463] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11707463] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15247260] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 2475911] [evidence TAS]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [evidence IEA]; Interacting selectively with a PDZ domain of a protein, a domain found in diverse signaling proteins [goid 30165] [pmid 11707463] [evidence IDA]; Interacting selectively with chloride ions (Cl-) [goid 31404] [evidence IEA]" ABCC7; MRP7; TNR-CFTR; CFTR/MRP; dJ760C5.1; CF; ABC35 ABCC7; MRP7; TNR-CFTR; CFTR/MRP; dJ760C5.1; CF; ABC35 Extracellular matrix -> Extracellular matrix structural protein Signal transduction -> Cell communication;Cell adhesion;Developmental processes -> Mesoderm development -> Skeletal development;Cell structure and motility -> Cell structure Homo sapiens RefSeq ILMN_12987 ILMN_165502 COL10A1 NM_000493.3 NM_000493.3 1300 98985802 NM_000493.3 COL10A1 NP_000484.2 ILMN_1672776 4730324 S 2641 CCCCTAAAATATTTCTGATGGTGCACTACTCTGAGGCCTGTATGGCCCCT 6 - 116547377-116547426 6q22.1d "Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; Any of the various assemblies in which collagen chains form a left-handed triple helix; may assemble into higher order structures [goid 5581] [pmid 8554571] [evidence TAS] "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 8554571] [evidence TAS]" The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA] Extracellular matrix -> Extracellular matrix structural protein Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Developmental processes -> Ectoderm development Homo sapiens RefSeq ILMN_5067 ILMN_166420 COL17A1 NM_000494.3 NM_000494.3 1308 119829186 NM_000494.3 COL17A1 NP_000485.3 ILMN_1651282 990372 A 5426 GCTGGGGACACAGCATCAGCTCAAGACGTCACCCTCCATTCTGCACTCAG 10 - 105781170-105781219 10q25.1a "Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9012408] [evidence TAS]; A specialized region of connection between two cells including but not limited to gap junctions, desmosomes, and tight junctions, but excluding direct cytoplasmic junctions such as ring canals [goid 5911] [pmid 9012408] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [pmid 9012408] [evidence TAS]; The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 9012408] [evidence TAS]" The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA] KIAA0204; BA16H23.2; BPAG2; BP180; LAD-1 KIAA0204; BA16H23.2; BP180; LAD-1; BPAG2 Extracellular matrix -> Extracellular matrix structural protein Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Developmental processes -> Ectoderm development Homo sapiens RefSeq ILMN_20087 ILMN_166420 COL17A1 NM_000494.3 NM_000494.3 1308 119829186 NM_000494.3 COL17A1 NP_000485.3 ILMN_1799105 2120270 I 5056 GCGCCTTCCTGGAGGTGACACTTGATGGGGGTGTGTTCTGGTTACTGTTC 10 - 105781540-105781589 10q25.1a "Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9012408] [evidence TAS]; A specialized region of connection between two cells including but not limited to gap junctions, desmosomes, and tight junctions, but excluding direct cytoplasmic junctions such as ring canals [goid 5911] [pmid 9012408] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [pmid 9012408] [evidence TAS]; The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [pmid 9012408] [evidence TAS]" The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA] KIAA0204; BA16H23.2; BPAG2; BP180; LAD-1 KIAA0204; BA16H23.2; BP180; LAD-1; BPAG2 Molecular function unclassified Biological process unclassified Homo sapiens RefSeq ILMN_13514 ILMN_27815 COL4A5 NM_000495.3 NM_000495.3 1287 15890084 NM_000495.3 COL4A5 NP_000486.1 ILMN_1742534 270706 A 6205 AGAATCCTCCTGTGGCCTCTGCTTGTACAGAACTGGGAAACAACACTTGG X + 107827209-107827258 Xq22.3c "Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 1, mRNA." "The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; Any of the various assemblies in which collagen chains form a left-handed triple helix; may assemble into higher order structures [goid 5581] [evidence IEA]; A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form nets within basement membranes [goid 5587] [evidence IEA]; A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form nets within basement membranes [goid 5587] [pmid 2349482] [evidence TAS]" "The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]" MGC42377; ATS; MGC167109; CA54; ASLN MGC42377; ATS; MGC167109; CA54; ASLN Miscellaneous function -> Structural protein Sensory perception -> Vision;Developmental processes Homo sapiens RefSeq ILMN_26818 ILMN_26818 CRYBB2 NM_000496.2 NM_000496.2 1415 98986448 NM_000496.2 CRYBB2 NP_000487.1 ILMN_1760708 1780369 S 424 GATGACGATGTACCCAGCTTCCACGCCCATGGCTACCAGGAGAAGGTGTC 22 + 23955472-23955521 22q11.23c "Homo sapiens crystallin, beta B2 (CRYBB2), mRNA." "The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 9158139] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]" The action of a molecule that contributes to the structural integrity of the lens of an eye [goid 5212] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [evidence IEA] CCA2; D22S665; CRYB2; CRYB2A CCA2; CRYB2A; D22S665; CRYB2 Oxidoreductase -> Oxygenase Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Steroid hormone metabolism;Electron transport Homo sapiens RefSeq ILMN_3676 ILMN_171822 CYP11B2 NM_000498.3 NM_000498.3 1585 119829182 NM_000498.3 CYP11B2 NP_000489.3 ILMN_1752099 2060114 S 2792 GTGCAGCATGGGAAAGGAATAAGGGGGCAACAAGGTGCACAGACCTCAGA 8 - 143989071-143989120 8q24.3f "Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA." "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [pmid 2256920] [evidence IC ]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The process by which the hormone aldosterone decreases the rate of diuresis and natriuresis resulting in increased blood volume [goid 2017] [pmid 14614232] [evidence IMP]; Renal process involved in the maintenance of internal equilibrium of water in the body [goid 3091] [pmid 2256920] [evidence IC ]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways resulting in the formation of C21-steroid hormones, steroid compounds containing 21 carbons which function as hormones [goid 6700] [evidence IEA]; The chemical reactions and pathways resulting in the formation of glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol [goid 6704] [pmid 9703385] [evidence IMP]; The chemical reactions and pathways resulting in the formation of aldosterone, a corticosteroid hormone that is produced by the zona glomerulosa of the adrenal cortex and regulates salt (sodium and potassium) and water balance [goid 32342] [pmid 2256920] [evidence IDA]; The chemical reactions and pathways resulting in the formation of aldosterone, a corticosteroid hormone that is produced by the zona glomerulosa of the adrenal cortex and regulates salt (sodium and potassium) and water balance [goid 32342] [pmid 1741400] [evidence IDA]; The regulation of the levels, transport, and metabolism of potassium ions [goid 55075] [pmid 9838244] [evidence IMP]; The regulation of the levels, transport, and metabolism of sodium ions [goid 55078] [pmid 9838244] [evidence IMP]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Catalysis of the reaction: a steroid + reduced adrenal ferredoxin + O2 = an 11-beta-hydroxysteroid + oxidized adrenal ferredoxin + H2O [goid 4507] [evidence IEA]; Interacting selectively with a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene [goid 5496] [pmid 2256920] [evidence IC ]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the reaction: corticosterone + reduced adrenal ferredoxin + O2 = 18-hydroxycorticosterone + oxidized adrenal ferredoxin + H2O [goid 47783] [evidence IEA]" CPN2; P450aldo; CYP11B; P-450C18; ALDOS; P450C18; CYP11BL CPN2; P450aldo; P450C18; CYP11B; P-450C18; CYP11BL; ALDOS Oxidoreductase -> Oxygenase Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism;Lipid, fatty acid and steroid metabolism -> Steroid metabolism;Electron transport Homo sapiens RefSeq ILMN_4380 ILMN_175467 CYP1A1 NM_000499.2 NM_000499.2 1543 13325053 NM_000499.2 CYP1A1 NP_000490.1 ILMN_1807291 2940332 S 2292 CTGGGGACTTGTGTCTGCGGGGATCCAGAGCGCACAGGGAGTGCACATAT 15 - 72799202-72799251 15q24.1b "Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA." "The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA] "Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor [goid 16712] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor [goid 16712] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with oxygen (O2) [goid 19825] [pmid 1691986] [evidence TAS]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the reaction: RH + reduced flavoprotein + O2 = ROH + oxidized flavoprotein + H2O [goid 50381] [evidence IEA]" CP11; P1-450; P450-C; P450DX; CYP1; AHRR; AHH CP11; P1-450; P450-C; P450DX; CYP1; AHRR; AHH Oxidoreductase -> Oxygenase;Oxidoreductase -> Hydroxylase Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism;Electron transport Homo sapiens RefSeq ILMN_4877 ILMN_4877 CYP21A2 NM_000500.5 NM_000500.5 1589 67906817 NM_000500.5 CYP21A2 NP_000491.2 ILMN_1773082 5890022 S 1922 CCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGC 6 + 32117206-32117255 6p21.32b "Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA." "The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]" "The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The chemical reactions and pathways resulting in the formation of C21-steroid hormones, steroid compounds containing 21 carbons which function as hormones [goid 6700] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the reaction: a steroid + donor-H2 + O2 = a 21-hydroxysteroid + acceptor + H2O [goid 4509] [evidence IEA]; Interacting selectively with a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene [goid 5496] [evidence IEA]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]" CYP21B; CPS1; CYP21; P450c21B; CAH1; MGC150536; CA21H; MGC150537 CYP21B; CPS1; CAH1; MGC150536; CYP21; CA21H; P450c21B; MGC150537 Oxidoreductase -> Peroxidase Immunity and defense -> Granulocyte-mediated immunity Homo sapiens RefSeq ILMN_9312 ILMN_9312 EPX NM_000502.2 NM_000502.2 8288 65301165 NM_000502.2 EPX NP_000493.1 ILMN_1772631 3170438 S 1949 CAACATTGACATCTGGATTGGGGCCATCGCTGAGCCTCTTTTGCCGGGGG 17 + 53635562-53635611 17q22d "Homo sapiens eosinophil peroxidase (EPX), mRNA." "A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of hydrogen peroxide (H2O2) [goid 42744] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]" "Catalysis of the reaction: donor + H2O2 = oxidized donor + 2 H2O [goid 4601] [pmid 10386597] [evidence TAS]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]" EPO; EPX-PEN; EPP EPO; EPX-PEN; EPP Hydrolase Sensory perception -> Vision;Developmental processes Homo sapiens RefSeq ILMN_17045 ILMN_17045 EYA1 NM_000503.3 NM_000503.3 2138 26667213 NM_000503.3 EYA1 NP_000494.2 ILMN_1747207 1260605 I 471 TGAGAGCCCCCGCGCGTACCCATCCAGGAGCAAAACTATGTCAGGAATGG 8 - 72436501-72436550 8q13.3b-q13.3c "Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA." "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]" "The process whose specific outcome is the progression of the ureteric bud over time, from its formation to the mature structure [goid 1657] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process of removing one or more phosphoric residues from a protein [goid 6470] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; Any developmental process that results in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate [goid 7389] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 9020840] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process by which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form [goid 9653] [pmid 9020840] [evidence TAS]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [evidence IEA]; The process by which the anatomical structures of the inner ear are generated and organized. Morphogenesis pertains to the creation of form. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively [goid 42472] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [evidence IEA]; The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field [goid 45165] [evidence IEA]; Any process that modulates the frequency, rate or extent of neuron differentiation [goid 45664] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process whose specific outcome is the progression of the ureteric bud over time, from its formation to the mature structure [goid 1657] [evidence IEA]; The process of removing one or more phosphoric residues from a protein [goid 6470] [evidence IEA]; Any developmental process that results in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate [goid 7389] [evidence IEA]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [evidence IEA]; The process by which the anatomical structures of the inner ear are generated and organized. Morphogenesis pertains to the creation of form. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively [goid 42472] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [evidence IEA]; The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field [goid 45165] [evidence IEA]; Any process that modulates the frequency, rate or extent of neuron differentiation [goid 45664] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]" "Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]" MGC141875; BOR; BOP BOP; MGC141875; BOR Oxidoreductase;Protease -> Serine protease;Defense/immunity protein;Select calcium binding protein -> Calmodulin related protein;Select calcium binding protein -> Annexin Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting Homo sapiens RefSeq ILMN_138620 ILMN_41934 F10 NM_000504.3 NM_000504.3 2159 89142731 NM_000504.3 F10 NP_000495.1 ILMN_1670708 5340358 S 1323 GCACGTCACCCGCTTCAAGGACACCTACTTCGTGACAGGCATCGTCAGCT 13 + 112851631-112851680 13q34c "Homo sapiens coagulation factor X (F10), mRNA." The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2110473] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2271516] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3052293] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8639673] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 14982929] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3052293] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2271516] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA] The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; A pathway of blood coagulation in which the earlier stages of the cascade are bypassed and the activation of factor X to factor Xa is effected by the combination of factor VIIa + thromboplastin; this second pathway occurs when tissue extracts are present in optimal amounts and is much more rapid than the intrinsic pathway [goid 7598] [pmid 7598447] [evidence EXP]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA] "Catalysis of the hydrolysis of internal, alpha-pept