{ "uniprot_canonical_ac": "A5YM72-1", "sequence": { "length": 827, "sequence": "MLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEVALAQCGLGEEAQVAAVRQRVKAAAEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK" }, "uniprot_id": "CRNS1_HUMAN", "enzyme_annotation": [ { "ec": "6.3.2.11", "activity": "ATP + L-histidine + beta-alanine = ADP + phosphate + carnosine." }, { "ec": "6.3.2.11", "activity": "" } ], "alternativenames": [ { "full": "ATP-grasp domain-containing protein 1", "short": "" } ], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Carnosine synthase 1" }, "publication": [ { "title": "Intrinsic carnosine metabolism in the human kidney.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26206726", "journal": "Amino acids", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065862.1", "id": "NP_065862.1", "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", "pmid": "26206726" }, { "title": "Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1).", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20097752", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065862.1", "id": "NP_065862.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A5YM72/publications", "id": "A5YM72", "database": "UniProtKB" } ], "authors": "Drozak J, Veiga-da-Cunha M, Vertommen D, Stroobant V, Van Schaftingen E", "date": "2010", "pmid": "20097752" } ], "glycosylation": [], "mutation": [ { "start_pos": 40, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 40, "type": "Point mutation" }, { "start_pos": 85, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "R", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "L", "subjects_tested": "50", "end_pos": 85, "type": "Point mutation" }, { "start_pos": 203, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "E", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "V", "subjects_tested": "50", "end_pos": 203, "type": "Point mutation" }, { "start_pos": 247, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 247, "type": "Point mutation" }, { "start_pos": 252, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0227", "annotation": "Somatic mutation in Head and neck cancer (DOID:11934) with frequency of 1/44 (0.0227)", "sequence_org": "G", "disease": { "doid": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "icd10": "", "name": "Head and neck cancer" }, "sequence_mut": "S", "subjects_tested": "44", "end_pos": 252, "type": "Point mutation" }, { "start_pos": 283, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0108", "annotation": "Somatic mutation in Ovarian cancer (DOID:2394) with frequency of 1/93 (0.0108)", "sequence_org": "A", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "V", "subjects_tested": "93", "end_pos": 283, "type": "Point mutation" }, { "start_pos": 405, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "I", "subjects_tested": "50", "end_pos": 405, "type": "Point mutation" }, { "start_pos": 499, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0106", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", "sequence_org": "R", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "C", "subjects_tested": "94", "end_pos": 499, "type": "Point mutation" }, { "start_pos": 521, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0106", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", "sequence_org": "A", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "V", "subjects_tested": "94", "end_pos": 521, "type": "Point mutation" }, { "start_pos": 639, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0152", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/66 (0.0152)", "sequence_org": "E", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "K", "subjects_tested": "66", "end_pos": 639, "type": "Point mutation" }, { "start_pos": 655, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0152", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/66 (0.0152)", "sequence_org": "Q", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "H", "subjects_tested": "66", "end_pos": 655, "type": "Point mutation" }, { "start_pos": 686, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0263", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/38 (0.0263)", "sequence_org": "R", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "W", "subjects_tested": "38", "end_pos": 686, "type": "Point mutation" }, { "start_pos": 710, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0263", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/38 (0.0263)", "sequence_org": "D", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "V", "subjects_tested": "38", "end_pos": 710, "type": "Point mutation" }, { "start_pos": 780, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 780, "type": "Point mutation" }, { "start_pos": 820, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YM72", "id": "A5YM72", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "D", "subjects_tested": "50", "end_pos": 820, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5YM72#A5YM72-1", "isoform_ac": "A5YM72-1", "locus": { "end_pos": 67418761, "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": { "length": 827, "sequence": "MLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEVALAQCGLGEEAQVAAVRQRVKAAAEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK" } }, { "url": "https://www.uniprot.org/uniprot/A5YM72#A5YM72-2", "isoform_ac": "A5YM72-2", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "sequence": { "length": 385, "sequence": "MTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK" } }, { "url": "https://www.uniprot.org/uniprot/A5YM72#A5YM72-3", "isoform_ac": "A5YM72-3", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "sequence": { "length": 966, "sequence": "MCPLAHPAQDLPLLPSQLSLDPSGPEWDCPLGSKDLEEEGPWGGGSGLPPTGCFPGSWRQDVGLDCKGSPEGAEARAWTVYYYSLLQSCLQQAGLPETQDRGQVPRTGCPGAEVTLCVLGSPSTFLPVLLEGGVQSPGNMLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEVALAQCGLGEEAQVAAVRQRVKAAAEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK" } }, { "url": "https://www.uniprot.org/uniprot/A5YM72#A5YM72-4", "isoform_ac": "A5YM72-4", "locus": { "end_pos": 67416200, "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": { "length": 924, "sequence": "MLSLDPSGPEWDCPLGSKDLEEEGPWGGGSGLPPTGCFPGSWRQDVGLDCKGSPEGAEARAWTVYYYSLLQSCLQQAGLPETQDRGQVPRTGCPGAEVTLCVLGSPSTFLPVLLEGGVQSPGNMLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK" } }, { "url": "https://www.uniprot.org/uniprot/A5YM72#A5YM72-5", "isoform_ac": "A5YM72-5", "locus": { "end_pos": 67416200, "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": { "length": 950, "sequence": "MLSLDPSGPEWDCPLGSKDLEEEGPWGGGSGLPPTGCFPGSWRQDVGLDCKGSPEGAEARAWTVYYYSLLQSCLQQAGLPETQDRGQVPRTGCPGAEVTLCVLGSPSTFLPVLLEGGVQSPGNMLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEVALAQCGLGEEAQVAAVRQRVKAAAEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:57571", "resource": "KEGG Pathway", "id": "hsa:57571", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921", "resource": "Reactome", "id": "R-HSA-70921", "name": "Histidine catabolism" } ], "function": [ { "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" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065862.1", "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_065862.1", "id": "NP_065862.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065862.1", "annotation": "Carnosine synthase is identified as ATP-grasp domain-containing protein 1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065862.1", "id": "NP_065862.1", "database": "RefSeq" } ] } ], "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" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065862.1", "ac": "NP_065862.1", "name": "carnosine synthase 1 isoform 2", "summary": "CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "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", "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:0016887", "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:0004459", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "L-lactate dehydrogenase activity", "id": "GO:0004459" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047730", "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:0102102", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "homocarnosine synthase activity", "id": "GO:0102102" } ], "total": 6, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "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", "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:0019516", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "lactate oxidation", "id": "GO:0019516" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006548", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5YM72", "id": "A5YM72", "database": "UniProtKB" } ], "name": "histidine catabolic process", "id": "GO:0006548" } ], "total": 3, "name": "Biological Process" } ] }, "site_annotation": [], "crossref": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:57571", "id": "hsa:57571", "database": "KEGG Pathway" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921", "id": "R-HSA-70921", "database": "Reactome" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29268", "id": "29268", "database": "HGNC" }, { "url": "https://omabrowser.org/oma/group/PISCFPG/", "id": "PISCFPG", "database": "OMA" }, { "url": "N/A", "id": "6.3.2.11", "database": "BRENDA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011761", "id": "IPR011761", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR031046", "id": "IPR031046", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR041472", "id": "IPR041472", "database": "InterPro" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARNS1", "id": "CARNS1", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/57571", "id": "57571", "database": "GeneID" }, { "url": "http://pfam.xfam.org/family/PF18130", "id": "PF18130", "database": "Pfam" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10578:SF57", "id": "PTHR10578:SF57", "database": "PANTHER" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A5YM72", "id": "PR_A5YM72", "database": "PRO" }, { "url": "https://www.nextprot.org/entry/NX_A5YM72", "id": "NX_A5YM72", "database": "neXtProt" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A5YM72*", "id": "A5YM72", "database": "IntAct" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5YM72", "id": "A5YM72", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5YM72", "id": "A5YM72", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5YM72", "id": "A5YM72", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5YM72", "id": "A5YM72", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5YM72", "id": "A5YM72", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5YM72", "id": "A5YM72", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5YM72", "id": "A5YM72", "database": "BioXpress" } ] } ], "uniprot_ac": "A5YM72", "disease": [], "mass": { "monoisotopic_mass": 88484.0, "chemical_mass": 88484.0 }, "expression_tissue": [ { "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" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "no", "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_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary 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_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid 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_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "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_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172508", "id": "ENSG00000172508", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29268", "name": "CARNS1", "locus": { "end_pos": 67425607, "start_pos": 67414968, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000172508", "id": "ENSG00000172508", "database": "Ensembl Gene" } ] } } ] }