{ "uniprot_canonical_ac": "A5YM72-1", "ptm_annotation": [], "sequence": { "header": "sp|A5YM72-1|CRNS1_HUMAN Isoform 1 of Carnosine synthase 1 OS=Homo sapiens OX=9606 GN=CARNS1 PE=1 SV=3 CANONICAL=A5YM72-1", "length": 827, "sequence": "MLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEVALAQCGLGEEAQVAAVRQRVKAAAEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK" }, "uniprot_id": "", "enzyme_annotation": [ { "ec": "6.3.2.11", "activity": "" }, { "ec": "6.3.2.11", "activity": "ATP + L-histidine + beta-alanine = ADP + phosphate + carnosine." } ], "glycation": [], "keywords": [ "enzyme" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "pmid": "20097752", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "ATPase activity", "id": "GO:0016887" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047730", "pmid": "20097752", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "carnosine synthase activity", "id": "GO:0047730" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "ATP binding", "id": "GO:0005524" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "metal ion binding", "id": "GO:0046872" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102102", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "homocarnosine synthase activity", "id": "GO:0102102" } ], "total": 5, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035499", "pmid": "20097752", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "carnosine biosynthetic process", "id": "GO:0035499" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006548", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "histidine catabolic process", "id": "GO:0006548" } ], "total": 2, "name": "Biological Process" } ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20097752", "type": "PubMed", "id": "20097752" } ], "title": "Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1).", "journal": "J. Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159694.1", "id": "NP_001159694.1", "database": "RefSeq" } ], "authors": "Veiga-da-Cunha M., Stroobant V., Van Schaftingen E., Drozak J., Vertommen D.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24891507", "type": "PubMed", "id": "24891507" } ], "title": "Metabolite proofreading in carnosine and homocarnosine synthesis: molecular identification of PM20D2 as beta-alanyl-lysine dipeptidase.", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159694.1", "id": "NP_001159694.1", "database": "RefSeq" } ], "authors": "Veiga-da-Cunha M, Chevalier N, Stroobant V, Vertommen D, Van Schaftingen E", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26206726", "type": "PubMed", "id": "26206726" } ], "title": "Intrinsic carnosine metabolism in the human kidney.", "journal": "Amino acids", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159694.1", "id": "NP_001159694.1", "database": "RefSeq" } ], "authors": "Peters V, Klessens CQ, Baelde HJ, Singler B, Veraar KA, Zutinic A, Drozak J, Zschocke J, Schmitt CP, de Heer E", "date": "2015" } ], "uniprot_ac": "A5YM72", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A5YM72", "type": "synonym", "resource": "RefSeq", "name": "ATPGD1" }, { "url": "https://www.uniprot.org/uniprot/A5YM72", "type": "synonym", "resource": "UniProtKB", "name": "ATPGD1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A5YM72", "type": "synonym", "resource": "RefSeq", "name": "CARNS1" }, { "url": "https://www.uniprot.org/uniprot/A5YM72", "type": "recommended", "resource": "UniProtKB", "name": "CARNS1" }, { "url": "https://www.uniprot.org/uniprot/A5YM72", "type": "synonym", "resource": "UniProtKB", "name": "KIAA1394" } ], "reactions": [ { "source": "Reactome", "output_participant_list": [], "name": "CARNS1 transforms ATP, L-His, b-Ala to CARN", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6786245", "cellular_location": "extracellular region", "input_participant_list": [], "enzyme_list": [ "A5YM72-1" ], "id": "R-HSA-6786245", "summary": "Carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine) are abundant dipeptides in skeletal muscle and brain of most vertebrates. Carnosine synthase 1 (CARNS1) transforms ATP, L-histidine (L-His) and beta-alanine (b-Ala) to carnosine (CARN) with much greater efficiency than synthesis of homocarnosine (Drozak et al. 2010)." } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5YM72#A5YM72-1", "isoform_ac": "A5YM72-1", "locus": { "end_pos": 67418761, "strand": "-", "start_pos": 67424598, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000307823", "id": "ENST00000307823", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000308268", "id": "ENSP00000308268", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5YM72-1|CRNS1_HUMAN Isoform 1 of Carnosine synthase 1 OS=Homo sapiens OX=9606 GN=CARNS1 PE=1 SV=3 CANONICAL=A5YM72-1", "length": 827, "sequence": "MLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEVALAQCGLGEEAQVAAVRQRVKAAAEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK" } }, { "url": "https://www.uniprot.org/uniprot/A5YM72#A5YM72-2", "isoform_ac": "A5YM72-2", "locus": {}, "sequence": { "header": "sp|A5YM72-2|CRNS1_HUMAN Isoform 2 of Carnosine synthase 1 OS=Homo sapiens OX=9606 GN=CARNS1 PE=1 SV=3 CANONICAL=A5YM72-1", "length": 385, "sequence": "MTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK" } }, { "url": "https://www.uniprot.org/uniprot/A5YM72#A5YM72-3", "isoform_ac": "A5YM72-3", "locus": {}, "sequence": { "header": "sp|A5YM72-3|CRNS1_HUMAN Isoform 3 of Carnosine synthase 1 OS=Homo sapiens OX=9606 GN=CARNS1 PE=1 SV=3 CANONICAL=A5YM72-1", "length": 966, "sequence": "MCPLAHPAQDLPLLPSQLSLDPSGPEWDCPLGSKDLEEEGPWGGGSGLPPTGCFPGSWRQDVGLDCKGSPEGAEARAWTVYYYSLLQSCLQQAGLPETQDRGQVPRTGCPGAEVTLCVLGSPSTFLPVLLEGGVQSPGNMLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEVALAQCGLGEEAQVAAVRQRVKAAAEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK" } }, { "url": "https://www.uniprot.org/uniprot/A5YM72#A5YM72-4", "isoform_ac": "A5YM72-4", "locus": { "end_pos": 67416200, "strand": "-", "start_pos": 67424598, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000531040", "id": "ENST00000531040", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000431670", "id": "ENSP00000431670", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5YM72-4|CRNS1_HUMAN Isoform 4 of Carnosine synthase 1 OS=Homo sapiens OX=9606 GN=CARNS1 PE=1 SV=3 CANONICAL=A5YM72-1", "length": 924, "sequence": "MLSLDPSGPEWDCPLGSKDLEEEGPWGGGSGLPPTGCFPGSWRQDVGLDCKGSPEGAEARAWTVYYYSLLQSCLQQAGLPETQDRGQVPRTGCPGAEVTLCVLGSPSTFLPVLLEGGVQSPGNMLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK" } }, { "url": "https://www.uniprot.org/uniprot/A5YM72#A5YM72-5", "isoform_ac": "A5YM72-5", "locus": { "end_pos": 67416200, "strand": "-", "start_pos": 67424598, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000445895", "id": "ENST00000445895", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000389009", "id": "ENSP00000389009", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5YM72-5|CRNS1_HUMAN Isoform 5 of Carnosine synthase 1 OS=Homo sapiens OX=9606 GN=CARNS1 PE=1 SV=3 CANONICAL=A5YM72-1", "length": 950, "sequence": "MLSLDPSGPEWDCPLGSKDLEEEGPWGGGSGLPPTGCFPGSWRQDVGLDCKGSPEGAEARAWTVYYYSLLQSCLQQAGLPETQDRGQVPRTGCPGAEVTLCVLGSPSTFLPVLLEGGVQSPGNMLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEVALAQCGLGEEAQVAAVRQRVKAAAEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57571", "resource": "KEGG Pathway", "id": "hsa:57571", "name": "" }, { "reaction_list": [ "R-HSA-175993", "R-HSA-6786245", "R-HSA-70899", "R-HSA-70903", "R-HSA-70906", "R-HSA-70920", "R-HSA-8876789", "R-HSA-977301" ], "resource": "Reactome", "description": "Histidine catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921", "id": "R-HSA-70921", "name": "Histidine catabolism" } ], "reaction_participants": [], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159694.1", "annotation": "CNDP1 and CARNS are expressed in glomeruli and tubular cells; TauT is expressed in renal epithelial cells; CDNP1 may have a role in diabetic neuropathy", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159694.1", "id": "NP_001159694.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159694.1", "annotation": "Carnosine synthase is identified as ATP-grasp domain-containing protein 1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159694.1", "id": "NP_001159694.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A5YM72#function", "annotation": "Catalyzes the synthesis of carnosine and homocarnosine. Carnosine is synthesized more efficiently than homocarnosine.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72#function", "id": "A5YM72", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q6ZPS2-1", "protein_name": "Carnosine synthase 1", "sequence": { "length": 827, "sequence": "MLLCLSPAWLMKVATPGQEGEAVLLVSKAVSFYPGGLTFLDDFVPPRHATYFLAGLGPESGRGKEAAELARNLTCPTGTSSELSQLLENRLLMRWLLSQQSGVAVPATLAFTYRPPGLLRGGDASPGLRLVELSGKEGQETLVKEEVEAFVHSEALGDASQVAVRLSGCRWRGQQALPLHLRVEPSTVVNTVLGLLEKLEEEESVLVEAMCPPVRLPLPGGPAPGPELAVRICAVVCRIQGDRPLLSKVVCGVGRGDRPVRHHYTLPRTLRVALAQCGLEEEAQVALLEQGIKEAAEGALAAVLALEAGLSVEQRGGRQVHTDFLGVDLVLTVIGRTLTPVVLKLNSGLCLEACGALEGLWAVPRLRRSAEEAAAAPLVETMLRRSGRHLMDGKQLLVIGAGGVSKKFVWEAARDYGLTLHLVESDPNHFASQLVQTFIHFDVTEHRRDEENALLLAELVRARNLKLDGCFSFWDDCLVLTALLCRELGLPCSPPAAMCLAKQKSRTQLHLLRCQGPPWPSTSLHAVACCPLENEADVERAIYQVPLPGVMKLEFGSGAVGVQLVKDGPQCREHFSRILHDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVVFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQVVQAAFRCCLGCGLLDGVFNVELKMTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLASTMVACGLQPALPAHPRARGYLVGIMCLVSQHLQLLSSPSSRETLQTLHDQGQLRLNLLEEALIPGQYEEPYCNVACAGPSPAEACHRLLGICQGLGIDRPNYPVAHFLSHFK" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/26439", "id": "26439", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Carns1", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "E", "start_pos": 203, "alt_nt": "T", "chr_id": "11", "ref_nt": "A", "chr_pos": "67187082", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"name": "neoplasm of uterine cervix", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "cancer of uterine cervix", "id": "MONDO:0002974" }, { "url": "https://www.omim.org/entry/603956", "resource": "MIM", "description": "Cervical cancer", "name": "Cervical cancer", "id": "MIM:603956" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the cervix.", "name": "cervical cancer", "id": "DOID:4362" } }, { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. 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"http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "name": "CARNS1", "locus": { "end_pos": 67425607, "strand": "+", "start_pos": 67414968, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000172508", "id": "ENSG00000172508", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A5YM72#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "6.3.2.11" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A5YM72", "type": "synonym", "resource": "RefSeq", "name": "ATP-grasp domain containing 1; ATP-grasp domain-containing protein 1" }, { "url": "https://www.uniprot.org/uniprot/A5YM72#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "ATP-grasp domain-containing protein 1" }, { "url": "https://www.uniprot.org/uniprot/A5YM72#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Carnosine synthase 1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A5YM72", "type": "synonym", "resource": "RefSeq", "name": "carnosine synthase 1 isoform 1" } ] }