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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEVALAQCGLGEEAQVAAVRQRVKAAAEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK", "length": 827, "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" }, "isoforms": [ { "isoform_ac": "A5YM72-1", "url": "", "sequence": { "sequence": "MLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEVALAQCGLGEEAQVAAVRQRVKAAAEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK", "length": 827, "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" }, "locus": { "chromosome": "11", "start_pos": 67424598, "end_pos": 67418761, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000307823.7", "url": "https://www.ensembl.org/id/ENST00000307823.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000308268.3", "url": "https://www.ensembl.org/id/ENSP00000308268.3" } ] } }, { "isoform_ac": "A5YM72-2", "url": "", "sequence": { "sequence": "MTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK", "length": 385, "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" }, "locus": {} }, { "isoform_ac": "A5YM72-3", "url": "", "sequence": { "sequence": "MCPLAHPAQDLPLLPSQLSLDPSGPEWDCPLGSKDLEEEGPWGGGSGLPPTGCFPGSWRQDVGLDCKGSPEGAEARAWTVYYYSLLQSCLQQAGLPETQDRGQVPRTGCPGAEVTLCVLGSPSTFLPVLLEGGVQSPGNMLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEVALAQCGLGEEAQVAAVRQRVKAAAEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK", "length": 966, "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" }, "locus": {} }, { "isoform_ac": "A5YM72-4", "url": "", "sequence": { "sequence": "MLSLDPSGPEWDCPLGSKDLEEEGPWGGGSGLPPTGCFPGSWRQDVGLDCKGSPEGAEARAWTVYYYSLLQSCLQQAGLPETQDRGQVPRTGCPGAEVTLCVLGSPSTFLPVLLEGGVQSPGNMLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK", "length": 924, "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" }, "locus": { "chromosome": "11", "start_pos": 67424598, "end_pos": 67416200, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531040.5", "url": "https://www.ensembl.org/id/ENST00000531040.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431670.1", "url": "https://www.ensembl.org/id/ENSP00000431670.1" } ] } }, { "isoform_ac": "A5YM72-5", "url": "", "sequence": { "sequence": "MLSLDPSGPEWDCPLGSKDLEEEGPWGGGSGLPPTGCFPGSWRQDVGLDCKGSPEGAEARAWTVYYYSLLQSCLQQAGLPETQDRGQVPRTGCPGAEVTLCVLGSPSTFLPVLLEGGVQSPGNMLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGLTFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQLLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRSEALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVYPPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRTLEVALAQCGLGEEAQVAAVRQRVKAAAEAALAAVLALEAGLSAEQRGGRRAHTDFLGVDFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRRSARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDMTEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLAKQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGAVGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRARGHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVACAGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK", "length": 950, "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" }, "locus": { "chromosome": "11", "start_pos": 67424598, "end_pos": 67416200, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445895.2", "url": "https://www.ensembl.org/id/ENST00000445895.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000389009.2", "url": "https://www.ensembl.org/id/ENSP00000389009.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 681, "end_pos": 681, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A5YM72", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A5YM72" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr681" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency.", "journal": "Cytogenetics and cell genetics", "date": "2000", "authors": "Solans A, Estivill X, de la Luna S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "10773664", "url": "https://glygen.org/publication/PubMed/10773664" } ] }, { "title": "Two polymorphic forms of human histamine methyltransferase: structural, thermal, and kinetic comparisons.", "journal": "Structure (London, England : 1993)", "date": "2001", "authors": "Horton JR, Sawada K, Nishibori M, Zhang X, Cheng X", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "11566133", "url": "https://glygen.org/publication/PubMed/11566133" } ] }, { "title": "The molecular basis of glutamate formiminotransferase deficiency.", "journal": "Human mutation", "date": "2003", "authors": "Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "12815595", "url": "https://glygen.org/publication/PubMed/12815595" } ] }, { "title": "Functional analysis of alternatively spliced transcripts of the human histidine decarboxylase gene and its expression in human tissues and basophilic leukemia cells.", "journal": "European journal of biochemistry", "date": "1992", "authors": "Mamune-Sato R, Yamauchi K, Tanno Y, Ohkawara Y, Ohtsu H, Katayose D, Maeyama K, Watanabe T, Shibahara S, Takishima T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "1425659", "url": "https://glygen.org/publication/PubMed/1425659" } ] }, { "title": "Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas.", "journal": "Oncogene", "date": "2004", "authors": "Yamada S, Ohira M, Horie H, Ando K, Takayasu H, Suzuki Y, Sugano S, Hirata T, Goto T, Matsunaga T, Hiyama E, Hayashi Y, Ando H, Suita S, Kaneko M, Sasaki F, Hashizume K, Ohnuma N, Nakagawara A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "15221005", "url": "https://glygen.org/publication/PubMed/15221005" } ] }, { "title": "Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.", "journal": "Human genetics", "date": "2005", "authors": "Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "15806399", "url": "https://glygen.org/publication/PubMed/15806399" } ] }, { "title": "The histamine N-methyltransferase T105I polymorphism affects active site structure and dynamics.", "journal": "Biochemistry", "date": "2008", "authors": "Rutherford K, Parson WW, Daggett V", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "18154359", "url": "https://glygen.org/publication/PubMed/18154359" } ] }, { "title": "Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.", "journal": "Journal of medical genetics", "date": "2009", "authors": "Espinos C, Pineda M, Martinez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "19304569", "url": "https://glygen.org/publication/PubMed/19304569" } ] }, { "title": "Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1).", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Drozak J, Veiga-da-Cunha M, Vertommen D, Stroobant V, Van Schaftingen E", "evidence": [ { "database": "UniProtKB", "id": "A5YM72", "url": "https://www.uniprot.org/uniprot/A5YM72" }, { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" }, { "database": "RefSeq", "id": "NP_001159694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159694" } ], "reference": [ { "type": "PubMed", "id": "20097752", "url": "https://glygen.org/publication/PubMed/20097752" } ] }, { "title": "UPF0586 Protein C9orf41 Homolog Is Anserine-producing Methyltransferase.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Drozak J, Piecuch M, Poleszak O, Kozlowski P, Chrobok L, Baelde HJ, de Heer E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "26001783", "url": "https://glygen.org/publication/PubMed/26001783" } ] }, { "title": "Intrinsic carnosine metabolism in the human kidney.", "journal": "Amino acids", "date": "2015", "authors": "Peters V, Klessens CQ, Baelde HJ, Singler B, Veraar KA, Zutinic A, Drozak J, Zschocke J, Schmitt CP, de Heer E", "evidence": [ { "database": "RefSeq", "id": "NP_001159694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159694" } ], "reference": [ { "type": "PubMed", "id": "26206726", "url": "https://glygen.org/publication/PubMed/26206726" } ] }, { "title": "Combining bioinformatics analysis and experiments to explore CARNS1 as a prognostic biomarker for breast cancer.", "journal": "Molecular genetics & genomic medicine", "date": "2021", "authors": "Zhang L, Zhang Y, Zhang X, Li X, He M, Qiao S", "evidence": [ { "database": "RefSeq", "id": "NP_001159694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159694" } ], "reference": [ { "type": "PubMed", "id": "33533160", "url": "https://glygen.org/publication/PubMed/33533160" } ] }, { "title": "The nucleotide sequence of porcine formiminotransferase cyclodeaminase. Expression and purification from Escherichia coli.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Murley LL, Mejia NR, MacKenzie RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "7901203", "url": "https://glygen.org/publication/PubMed/7901203" } ] }, { "title": "Structure and function of human histamine N-methyltransferase: critical enzyme in histamine metabolism in airway.", "journal": "The American journal of physiology", "date": "1994", "authors": "Yamauchi K, Sekizawa K, Suzuki H, Nakazawa H, Ohkawara Y, Katayose D, Ohtsu H, Tamura G, Shibahara S, Takemura M, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70921", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921" } ], "reference": [ { "type": "PubMed", "id": "7943261", "url": "https://glygen.org/publication/PubMed/7943261" } ] } ], "pathway": [ { "id": "hsa:57571", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57571", "resource": "KEGG Pathway" }, { "id": "R-HSA-70921", "name": "Histidine catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70921", "resource": "Reactome", "description": "Histidine catabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "D3Z945-1", "protein_name": "Carnosine synthase 1", "gene_name": "Carns1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDAAEQLRSQDASLFHRSGCPGAEVTLCILGSPSTFLSLLLEGGVQSPGNMLLCLSPAWLMKVASAGQEGEADLLVSKAVSFYPGGLTFLDDFVPPRHATYFLAGLGPEFGHSKEAAELARHLTCPTGGSSELARLLEDRLLMRWLLSQQSGVAVPATLAFTYRPPGLLRGGDTSPGLRLVELSGKEGQETLVKEEVEAFVHSKALGDASQVAVRLSGWRWRGQQVLPLHLQEEPSTVVNTVLGLLEKLEEEESVLVEAMCPPVRLPLPGSPAPGPELAVRICAVVCRIQGDRPLLSKVVCGVGRGDQPVRHHYTLPRSLGVALAQCGLEEEAQVALLEQGIKEAAEAALAAVLALEAGLSVEQRGGRQVHTDFLGVDFVLTVVGRTLTPVVLKLNSGLCLETCGALEGLWAMPRLRRSAEEAAAAPLVETMLRRSGRHLMDGKQLLVIGAGGVSKKFVWEAAQDYGLKLHLVESDPNHFASQLVQTFIHFDVTEHRRDEENARLLAELVRARNLKLDGCFSFWDDCLVLTALLCRELGLPCSPPAAMCLAKQKSRTQLHLLRCQGPPWPSTSLHAVACCPLESEADVERAIYQVPLPGVMKLEFGSGAVGVQLVKDGPQCHEHFSRILHDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVVFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFNVELKMTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLASAMVACGLQPALPAHPRARGYLVGIMCLVSQHLQLLSSPGSRETLQALHDQGQLRLNLLEEALIPGQYEEPYCNVACAGASPAEARHRLLGICQGLGIDRPNYPVAHFLSHFK", "length": 877 }, "evidence": [ { "id": "45933180", "url": "http://www.informatics.jax.org/homology/45933180", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q6ZPS2-1", "protein_name": "Carnosine synthase 1", "gene_name": "Carns1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLLCLSPAWLMKVATPGQEGEAVLLVSKAVSFYPGGLTFLDDFVPPRHATYFLAGLGPESGRGKEAAELARNLTCPTGTSSELSQLLENRLLMRWLLSQQSGVAVPATLAFTYRPPGLLRGGDASPGLRLVELSGKEGQETLVKEEVEAFVHSEALGDASQVAVRLSGCRWRGQQALPLHLRVEPSTVVNTVLGLLEKLEEEESVLVEAMCPPVRLPLPGGPAPGPELAVRICAVVCRIQGDRPLLSKVVCGVGRGDRPVRHHYTLPRTLRVALAQCGLEEEAQVALLEQGIKEAAEGALAAVLALEAGLSVEQRGGRQVHTDFLGVDLVLTVIGRTLTPVVLKLNSGLCLEACGALEGLWAVPRLRRSAEEAAAAPLVETMLRRSGRHLMDGKQLLVIGAGGVSKKFVWEAARDYGLTLHLVESDPNHFASQLVQTFIHFDVTEHRRDEENALLLAELVRARNLKLDGCFSFWDDCLVLTALLCRELGLPCSPPAAMCLAKQKSRTQLHLLRCQGPPWPSTSLHAVACCPLENEADVERAIYQVPLPGVMKLEFGSGAVGVQLVKDGPQCREHFSRILHDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVVFGGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQVVQAAFRCCLGCGLLDGVFNVELKMTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLASTMVACGLQPALPAHPRARGYLVGIMCLVSQHLQLLSSPSSRETLQTLHDQGQLRLNLLEEALIPGQYEEPYCNVACAGPSPAEACHRLLGICQGLGIDRPNYPVAHFLSHFK", "length": 827 }, "evidence": [ { "id": "45933180", "url": "http://www.informatics.jax.org/homology/45933180", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A5YM72", "url": "https://www.uniprot.org/uniprot/A5YM72" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A5YM72", "url": "https://www.uniprot.org/uniprot/A5YM72" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "A5YM72", "url": "https://www.uniprot.org/uniprot/A5YM72" } ], "pmid": "" }, { "name": "carnosine synthase activity", "id": "GO:0047730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047730", "evidence": [ { "database": "UniProtKB", "id": "A5YM72", "url": "https://www.uniprot.org/uniprot/A5YM72" } ], "pmid": "" }, { "name": "homocarnosine synthase activity", "id": "GO:0102102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102102", "evidence": [ { "database": "UniProtKB", "id": "A5YM72", "url": "https://www.uniprot.org/uniprot/A5YM72" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A5YM72", "url": "https://www.uniprot.org/uniprot/A5YM72" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "carnosine biosynthetic process", "id": "GO:0035499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035499", "evidence": [ { "database": "UniProtKB", "id": "A5YM72", "url": "https://www.uniprot.org/uniprot/A5YM72" } ], "pmid": "" }, { "name": "histidine catabolic process", "id": "GO:0006548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006548", "evidence": [ { "database": "UniProtKB", "id": "A5YM72", "url": "https://www.uniprot.org/uniprot/A5YM72" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "19297", "name": "", "equation": "ATP + beta-alanine + L-histidine = ADP + carnosine + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A5YM72-1", "Q6ZPS2-1" ], "evidence": [ { "id": "19297", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19297" } ] }, { "id": "59568", "name": "", "equation": "4-aminobutanoate + ATP + L-histidine = ADP + H(+) + L-homocarnosine + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A5YM72-1", "Q6ZPS2-1" ], "evidence": [ { "id": "59568", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/59568" } ] }, { "id": "R-HSA-6786245", "name": "CARNS1 transforms ATP, L-His, b-Ala to CARN", "equation": "", "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).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [ "R-ALL-6786250" ], "enzyme_list": [ "A5YM72-1" ], "evidence": [ { "id": "R-HSA-6786245", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6786245" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-6786250", "participant_name": "CARN [cytosol]", "crossref": [ { "id": "57485", "database": "ChEBI", "url": "" }, { "id": "000002040854", "database": "ZINC", "url": "" }, { "id": "57485", "database": "ChEBI", "url": "" }, { "id": "000002040854", "database": "ZINC", "url": "" }, { "id": "000002040854", "database": "ZINC", "url": "" }, { "id": "57485", "database": "ChEBI", "url": "" }, { "id": "57485", "database": "ChEBI", "url": "" }, { "id": "000002040854", "database": "ZINC", "url": "" }, { "id": "57485", "database": "ChEBI", "url": "" }, { "id": "000002040854", "database": "ZINC", "url": "" }, { "id": "000002040854", "database": "ZINC", "url": "" }, { "id": "57485", "database": "ChEBI", "url": "" }, { "id": "57485", "database": "ChEBI", "url": "" }, { "id": "000002040854", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A5YM72", "gene_name": "CARNS1", "activity": [ { "ec_number": "6.3.2.11", "activity": "ATP + beta-alanine + L-arginine = ADP + beta-alanyl-L-arginine + H(+) + phosphate.", "evidence": [ { "id": "A5YM72", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A5YM72" } ] }, { "ec_number": "6.3.2.11", "activity": "", "evidence": [ { "id": "A5YM72", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A5YM72" } ] } ] }, { "uniprot_ac": "Q6ZPS2", "gene_name": "Carns1", "activity": [ { "ec_number": "6.3.2.11", "activity": "ATP + beta-alanine + L-arginine = ADP + beta-alanyl-L-arginine + H(+) + phosphate.", "evidence": [ { "id": "Q6ZPS2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZPS2" } ] }, { "ec_number": "6.3.2.11", "activity": "", "evidence": [ { "id": "Q6ZPS2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZPS2" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 521 ], "glycation_sites": [], "phosphorylation_sites": [ 681 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": 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