{ "uniprot_canonical_ac": "P04181-1", "uniprot_ac": "P04181", "uniprot_id": "OAT_HUMAN", "mass": { "chemical_mass": 48535.0, "monoisotopic_mass": 48535.0 }, "refseq": { "ac": "NP_000265", "name": "ornithine aminotransferase, mitochondrial isoform 1 precursor", "summary": "This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000265" }, "gene_names": [ { "name": "OAT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04181", "id": "P04181" }, { "name": "GACR; HOGA; OATASE; OKT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000265", "id": "NP_000265" }, { "name": "OAT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000265", "id": "NP_000265" } ], "protein_names": [ { "name": "Ornithine aminotransferase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04181" }, { "name": "2.6.1.13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04181" }, { "name": "Ornithine delta-aminotransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04181" }, { "name": "Ornithine--oxo-acid aminotransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04181" }, { "name": "gyrate atrophy; ornithine-oxo-acid aminotransferase; ornithine aminotransferase, mitochondrial; ornithine delta-aminotransferase; testicular tissue protein Li 130", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000265", "id": "NP_000265" }, { "name": "ornithine aminotransferase, mitochondrial isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000265", "id": "NP_000265" } ], "function": [ { "annotation": "Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000265" }, { "database": "PubMed", "id": "36834788", "url": "https://glygen.org/publication/PubMed/36834788" } ] }, { "annotation": "Catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate.", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181#function" }, { "database": "PubMed", "id": "23076989", "url": "https://glygen.org/publication/PubMed/23076989" }, { "database": "PubMed", "id": "1737786", "url": "https://glygen.org/publication/PubMed/1737786" } ] }, { "annotation": "Ornithine aminotransferase supports polyamine synthesis in pancreatic cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000265" }, { "database": "PubMed", "id": "36991126", "url": "https://glygen.org/publication/PubMed/36991126" } ] }, { "annotation": "This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_000265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000265" } ] } ], "disease": [ { "disease_id": "DOID:1415", "recommended_name": { "id": "DOID:1415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1415", "name": "gyrate atrophy", "description": "" }, "synonyms": [ { "id": "DOID:1415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1415", "name": "Gyrate atrophy of the choroid and/or retina", "description": "" }, { "id": "DOID:1415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1415", "name": "Ornithinemia with gyrate atrophy", "description": "" }, { "id": "DOID:1415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1415", "name": "gyrate atrophy of the retina", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "ornithine aminotransferase deficiency", "description": "A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract." }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "GACR", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "Ornithinemia with gyrate atrophy", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "gyrate atrophy", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "gyrate atrophy of choroid and retina with or without ornithinemia", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "gyrate atrophy of the choroid and/or retina", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "gyrate atrophy of the retina", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "hoga", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "hyperornithinemia", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "hyperornithinemia-gyrate atrophy of choroid and retina syndrome", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "ornithine aminotransferase deficiency", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "Fuchs atrophia gyrata chorioideae et retinae", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "Fuchs gyrate atrophy", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "Fuchs gyrate atrophy of the choroid and retina", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "Girate atrophy of the retina", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "OAT deficiency", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "OKT deficiency", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "Oat deficiency", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "Okt deficiency", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "Ornithinemia", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "gyrate atrophy of choroid and retina", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "hyperornithinemia with gyrate atrophy of choroid and retina", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "ornithine Keto acid aminotransferase deficiency", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "ornithine ketoacid aminotransferase deficiency", "description": "" }, { "id": "MONDO:0009796", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009796", "name": "ornithine-Delta-aminotransferase deficiency", "description": "" }, { "id": "MIM:258870", "resource": "MIM", "url": "https://www.omim.org/entry/258870", "name": "Hyperornithinemia with gyrate atrophy of choroid and retina", "description": "Hyperornithinemia with gyrate atrophy of choroid and retina" } ], "evidence": [ { "id": "258870", "database": "MIM", "url": "https://www.omim.org/entry/258870" } ] } ], "snv": [ { "evidence": [ { "id": "P04181", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04181" } ], "glycoeffect": [], "start_pos": 371, "end_pos": 371, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "124400888", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V371", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri 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"https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": 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"sequence": "MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFDFLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTVKGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVVPDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDNGLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF", "length": 439, "header": "sp|P04181-1|OAT_HUMAN Isoform 1 of Ornithine aminotransferase, mitochondrial OS=Homo sapiens OX=9606 GN=OAT PE=1 SV=1 CANONICAL=P04181-1" }, "isoforms": [ { "isoform_ac": "P04181-1", "url": "", "sequence": { "sequence": "MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFDFLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTVKGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVVPDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDNGLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF", "length": 439, "header": "sp|P04181-1|OAT_HUMAN Isoform 1 of Ornithine aminotransferase, mitochondrial OS=Homo sapiens OX=9606 GN=OAT PE=1 SV=1 CANONICAL=P04181-1" }, "locus": { "chromosome": "10", "start_pos": 124412171, "end_pos": 124397945, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368845.6", "url": "https://www.ensembl.org/id/ENST00000368845.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000357838.5", "url": "https://www.ensembl.org/id/ENSP00000357838.5" } ] } }, { "isoform_ac": "P04181-2", "url": "", "sequence": { "sequence": "MNTGVEAGETACKLARKWGYTVKGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVVPDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDNGLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF", "length": 301, "header": "sp|P04181-2|OAT_HUMAN Isoform 2 of Ornithine aminotransferase, mitochondrial OS=Homo sapiens OX=9606 GN=OAT PE=1 SV=1 CANONICAL=P04181-1" }, "locus": { "chromosome": "10", "start_pos": 124408750, "end_pos": 124397945, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539214.5", "url": "https://www.ensembl.org/id/ENST00000539214.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439042.1", "url": "https://www.ensembl.org/id/ENSP00000439042.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P04181", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04181" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" } ] } ], "phosphorylation": [ { "start_pos": 272, "end_pos": 272, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04181", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04181" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr272" }, { "start_pos": 369, "end_pos": 369, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04181", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04181" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr369" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations.", "journal": "The Biochemical journal", "date": "2002", "authors": "Fang J, Hsu BY, MacMullen CM, Poncz M, Smith TJ, Stanley CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "11903050", "url": "https://glygen.org/publication/PubMed/11903050" } ] }, { "title": "The structure of apo human glutamate dehydrogenase details subunit communication and allostery.", "journal": "Journal of molecular biology", "date": "2002", "authors": "Smith TJ, Schmidt T, Fang J, Wu J, Siuzdak G, Stanley CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "12054821", "url": "https://glygen.org/publication/PubMed/12054821" } ] }, { "title": "Crystal structure of human kynurenine aminotransferase I.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Rossi F, Han Q, Li J, Li J, Rizzi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "15364907", "url": "https://glygen.org/publication/PubMed/15364907" } ] }, { "title": "Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.", "journal": "Genomics", "date": "1992", "authors": "Michaud J, Brody LC, Steel G, Fontaine G, Martin LS, Valle D, Mitchell G", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "reference": [ { "type": "PubMed", "id": "1612597", "url": "https://glygen.org/publication/PubMed/1612597" } ] }, { "title": "Congenital glutamine deficiency with glutamine synthetase mutations.", "journal": "The New England journal of medicine", "date": "2005", "authors": "Haberle J, Gorg B, Rutsch F, Schmidt E, Toutain A, Benoist JF, Gelot A, Suc AL, Hohne W, Schliess F, Haussinger D, Koch HG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "16267323", "url": "https://glygen.org/publication/PubMed/16267323" } ] }, { "title": "Crystal structure of human pyrroline-5-carboxylate reductase.", "journal": "Journal of molecular biology", "date": "2006", "authors": "Meng Z, Lou Z, Liu Z, Li M, Zhao X, Bartlam M, Rao Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "16730026", "url": "https://glygen.org/publication/PubMed/16730026" } ] }, { "title": "Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.", "journal": "Mol. Biol. Med.", "date": "1991", "authors": "Ramesh V, Gusella JF, Shih VE", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "reference": [ { "type": "PubMed", "id": "1682785", "url": "https://glygen.org/publication/PubMed/1682785" } ] }, { "title": "Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Brody LC, Mitchell GA, Obie C, Michaud J, Steel G, Fontaine G, Robert MF, Sipila I, Kaiser-Kupfer M, Valle D", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" }, { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "1737786", "url": "https://glygen.org/publication/PubMed/1737786" } ] }, { "title": "Crystal structures of mammalian glutamine synthetases illustrate substrate-induced conformational changes and provide opportunities for drug and herbicide design.", "journal": "Journal of molecular biology", "date": "2008", "authors": "Krajewski WW, Collins R, Holmberg-Schiavone L, Jones TA, Karlberg T, Mowbray SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "18005987", "url": "https://glygen.org/publication/PubMed/18005987" } ] }, { "title": "Structural insight into the inhibition of human kynurenine aminotransferase I/glutamine transaminase K.", "journal": "Journal of medicinal chemistry", "date": "2009", "authors": "Han Q, Robinson H, Cai T, Tagle DA, Li J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "19338303", "url": "https://glygen.org/publication/PubMed/19338303" } ] }, { "title": "Mutations in PYCR1 cause cutis laxa with progeroid features.", "journal": "Nature genetics", "date": "2009", "authors": "Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nurnberg G, Nurnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "19648921", "url": "https://glygen.org/publication/PubMed/19648921" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P04181-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04181-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Molecular identification of N-acetylaspartylglutamate synthase and beta-citrylglutamate synthase.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Collard F, Stroobant V, Lamosa P, Kapanda CN, Lambert DM, Muccioli GG, Poupaert JH, Opperdoes F, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "20657015", "url": "https://glygen.org/publication/PubMed/20657015" } ] }, { "title": "Functional specialization in proline biosynthesis of melanoma.", "journal": "PloS one", "date": "2012", "authors": "De Ingeniis J, Ratnikov B, Richardson AD, Scott DA, Aza-Blanc P, De SK, Kazanov M, Pellecchia M, Ronai Z, Osterman AL, Smith JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "23024808", "url": "https://glygen.org/publication/PubMed/23024808" } ] }, { "title": "Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.", "journal": "Human mutation", "date": "2013", "authors": "Doimo M, Desbats MA, Baldoin MC, Lenzini E, Basso G, Murphy E, Graziano C, Seri M, Burlina A, Sartori G, Trevisson E, Salviati L", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "reference": [ { "type": "PubMed", "id": "23076989", "url": "https://glygen.org/publication/PubMed/23076989" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04181", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04181" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Analysis of the human ornithine aminotransferase gene family.", "journal": "Exp. Eye Res.", "date": "1990", "authors": "Zintz C B, Inana G", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "reference": [ { "type": "PubMed", "id": "2373169", "url": "https://glygen.org/publication/PubMed/2373169" } ] }, { "title": "Molecular cloning and nucleotide sequence analysis of mRNA for human kidney ornithine aminotransferase. An examination of ornithine aminotransferase isozymes between liver and kidney.", "journal": "FEBS Lett.", "date": "1989", "authors": "Kobayashi T, Nishii M, Takagi Y, Titani K, Matsuzawa T", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "reference": [ { "type": "PubMed", "id": "2507357", "url": "https://glygen.org/publication/PubMed/2507357" } ] }, { "title": "Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.", "journal": "American journal of human genetics", "date": "2015", "authors": "Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "25865492", "url": "https://glygen.org/publication/PubMed/25865492" } ] }, { "title": "Purified human erythrocyte pyrroline-5-carboxylate reductase. Preferential oxidation of NADPH.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Merrill MJ, Yeh GC, Phang JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "2722838", "url": "https://glygen.org/publication/PubMed/2722838" } ] }, { "title": "Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Inana G, Chambers C, Hotta Y, Inouye L, Filpula D, Pulford S, Shiono T", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "reference": [ { "type": "PubMed", "id": "2793865", "url": "https://glygen.org/publication/PubMed/2793865" } ] }, { "title": "Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.", "journal": "J. 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Natl. Acad. Sci. U.S.A.", "date": "1986", "authors": "Inana G, Totsuka S, Redmond M, Dougherty T, Nagle J, Shiono T, Ohura T, Kominami E, Katunuma N", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "reference": [ { "type": "PubMed", "id": "3456579", "url": "https://glygen.org/publication/PubMed/3456579" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04181", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04181" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.", "journal": "International journal of molecular sciences", "date": "2023-02-08", "authors": "Floriani Fulvio, Borri Voltattorni Carla, Cellini Barbara, Montioli Riccardo", "evidence": [ { "database": "RefSeq", "id": "NP_000265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000265" } ], "reference": [ { "type": "PubMed", "id": "36834788", "url": "https://glygen.org/publication/PubMed/36834788" } ] }, { "title": "Ornithine aminotransferase supports polyamine synthesis in pancreatic cancer.", "journal": "Nature", "date": "2023-03-29", "authors": "Lee Min-Sik, Dennis Courtney, Naqvi Insia, Dailey Lucas, Lorzadeh Alireza, Ye George, Zaytouni Tamara, Adler Ashley, Hitchcock Daniel S, Lin Lin, Hoffman Megan T, Bhuiyan Aladdin M, Barth Jaimie L, Machacek Miranda E, Mino-Kenudson Mari, Dougan Stephanie K, Jadhav Unmesh, Clish Clary B, Kalaany Nada Y", "evidence": [ { "database": "RefSeq", "id": "NP_000265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000265" } ], "reference": [ { "type": "PubMed", "id": "36991126", "url": "https://glygen.org/publication/PubMed/36991126" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04181", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04181" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "The primary structure of ornithine aminotransferase. Identification of active-site sequence and site of post-translational proteolysis.", "journal": "FEBS letters", "date": "1986", "authors": "Simmaco M, John RA, Barra D, Bossa F", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "reference": [ { "type": "PubMed", "id": "3754226", "url": "https://glygen.org/publication/PubMed/3754226" } ] }, { "title": "Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.", "journal": "DNA", "date": "1986", "authors": "Ramesh V, Shaffer M M, Allaire J M, Shih V E, Gusella J F", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "reference": [ { "type": "PubMed", "id": "3816496", "url": "https://glygen.org/publication/PubMed/3816496" } ] }, { "title": "Partial amino acid sequence of the glutamate dehydrogenase of human liver and a revision of the sequence of the bovine enzyme.", "journal": "The Journal of biological chemistry", "date": "1979", "authors": "Julliard JH, Smith EL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "429360", "url": "https://glygen.org/publication/PubMed/429360" } ] }, { "title": "Crystallization and properties of human liver ornithine aminotransferase.", "journal": "Journal of biochemistry", "date": "1982", "authors": "Ohura T, Kominami E, Tada K, Katunuma N", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "6819292", "url": "https://glygen.org/publication/PubMed/6819292" } ] }, { "title": "A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.", "journal": "American journal of human genetics", "date": "1995", "authors": "Kobayashi T, Ogawa H, Kasahara M, Shiozawa Z, Matsuzawa T", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "reference": [ { "type": "PubMed", "id": "7668253", "url": "https://glygen.org/publication/PubMed/7668253" } ] }, { "title": "Molecular cloning and expression of a cDNA for human kidney cysteine conjugate beta-lyase.", "journal": "FEBS letters", "date": "1995", "authors": "Perry S, Harries H, Scholfield C, Lock T, King L, Gibson G, Goldfarb P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "7883047", "url": "https://glygen.org/publication/PubMed/7883047" } ] }, { "title": "Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.", "journal": "American journal of human genetics", "date": "1995", "authors": "Michaud J, Thompson GN, Brody LC, Steel G, Obie C, Fontaine G, Schappert K, Keith CG, Valle D, Mitchell GA", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "reference": [ { "type": "PubMed", "id": "7887415", "url": "https://glygen.org/publication/PubMed/7887415" } ] }, { "title": "Purification and characterization of kynurenine aminotransferase I from human brain.", "journal": "Journal of neurochemistry", "date": "1994", "authors": "Baran H, Okuno E, Kido R, Schwarcz R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "8294935", "url": "https://glygen.org/publication/PubMed/8294935" } ] }, { "title": "Human ornithine aminotransferase complexed with L-canaline and gabaculine: structural basis for substrate recognition.", "journal": "Structure", "date": "1997", "authors": "Shah S A, Shen B W, Br\u00fcnger A T", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "reference": [ { "type": "PubMed", "id": "9309222", "url": "https://glygen.org/publication/PubMed/9309222" } ] }, { "title": "Crystal structure of human recombinant ornithine aminotransferase.", "journal": "J. Mol. Biol.", "date": "1998", "authors": "Shen BW, Hennig M, Hohenester E, Jansonius JN, Schirmer T", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" }, { "database": "Reactome", "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539" } ], "reference": [ { "type": "PubMed", "id": "9514741", "url": "https://glygen.org/publication/PubMed/9514741" } ] }, { "title": "Crystal structure of human ornithine aminotransferase complexed with the highly specific and potent inhibitor 5-fluoromethylornithine.", "journal": "J. Mol. Biol.", "date": "1999", "authors": "Storici P, Capitani G, M\u00fcller R, Schirmer T, Jansonius J N", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "reference": [ { "type": "PubMed", "id": "9878407", "url": "https://glygen.org/publication/PubMed/9878407" } ] } ], "pathway": [ { "id": "hsa:4942", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4942", "resource": "KEGG Pathway" }, { "id": "R-HSA-8964539", "name": "Glutamate and glutamine metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539", "resource": "Reactome", "description": "Glutamate and glutamine metabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "P04182-1", "protein_name": "Ornithine aminotransferase, mitochondrial", "gene_name": "Oat", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLSKLASLQTVAALRRGLRTSVASATSVATKKTEQGPPSSEYIFERESKYGAHNYHPLPVALERGKGIYMWDVEGRQYFDFLSAYGAVSQGHCHPKIIEAMKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYNKVLPMNTGVEAGETACKLARRWGYTVKGIQKYKAKIVFAVGNFWGRTLSAVSSSTDPTSYDGFGPFMPGFETIPYNDLPALERALQDPNVAAFMVEPIQGEAGVIVPDPGYLTGVRELCTRHQVLFIADEIQTGLARTGRWLAVDHENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRIAIAALEVLEEEHLAENADKMGAILRKELMKLPSDVVTAVRGKGLLNAIVIRETKDCDAWKVCLRLRDNGLLAKPTHGDIIRLAPPLVIKEDEIRESVEIINKTILSF", "length": 439 }, "evidence": [ { "id": "45931041", "url": "http://www.informatics.jax.org/homology/45931041", "database": "MGI" }, { "id": "P04181", "url": "https://omabrowser.org/oma/group/P04181/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P07991-1", "protein_name": "Ornithine aminotransferase", "gene_name": "CAR2", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSEATLSSKQTIEWENKYSAHNYHPLPVVFHKAKGAHVWDPEGKLYLDFLSAYSAVNQGHCHPHIIKALTEQAQTLTLSSRAFHNDVYAQFAKFVTEFFGFETVLPMNTGAEAVETALKLARRWGYMKKNIPQDKAIILGAEGNFHGRTFGAISLSTDYEDSKLHFGPFVPNVASGHSVHKIRYGHAEDFVPILESPEGKNVAAIILEPIQGEAGIVVPPADYFPKVSALCRKHNVLLIVDEIQTGIGRTGELLCYDHYKAEAKPDIVLLGKALSGGVLPVSCVLSSHDIMSCFTPGSHGSTFGGNPLASRVAIAALEVIRDEKLCQRAAQLGSSFIAQLKALQAKSNGIISEVRGMGLLTAIVIDPSKANGKTAWDLCLLMKDHGLLAKPTHDHIIRLAPPLVISEEDLQTGVETIAKCIDLL", "length": 424 }, "evidence": [ { "id": "P04181", "url": "https://omabrowser.org/oma/group/P04181/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "P29758-1", "protein_name": "Ornithine aminotransferase, mitochondrial", "gene_name": "Oat", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLSKLASLQTIAALRRGVHTSVASATSVATKKTEQGPPSSEYIFERESKYGAHNYHPLPVALERGKGIYMWDVEGRQYFDFLSAYGAVSQGHCHPKIIDAMKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYNKVLPMNTGVEAGETACKLARRWGYTVKGIQKYKAKIVFADGNFWGRTLSAISSSTDPTSYDGFGPFMPGFETIPYNDLPALERALQDPNVAAFMVEPIQGEAGVIVPDPGYLTGVRELCTRHQVLFIADEIQTGLARTGRWLAVDHENVRPDMVLLGKALSGGLYPVSAVLCDDEIMLTIKPGEHGSTYGGNPLGCRIAIAALEVLEEENLAENADKMGAILRKELMKLPSDVVTSVRGKGLLNAIVIRETKDCDAWKVCLRLRDNGLLAKPTHGDIIRLAPPLVIKEDEIRESVEIINKTILSF", "length": 439 }, "evidence": [ { "id": "45931041", "url": "http://www.informatics.jax.org/homology/45931041", "database": "MGI" }, { "id": "P04181", "url": "https://omabrowser.org/oma/group/P04181/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VW26-1", "protein_name": "Ornithine aminotransferase, mitochondrial", "gene_name": "Oat", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MFAKLSARGIATRMSFLAQKTASQETTAAAGSRSELVYARENKYGAHNYHPLPVALTKGEGVFVWDVEGKRYFDYLSAYSAVNQGHCHPKIVAALTAQASKLALTSRAFYSDVLGEYEEYVTKLFGFDKVLPMNTGVEGGETACKLARKWGYLEKKIPANQAKIIFARNNFWGRTLSAVSASNDPSSYEGFGPFMPGFELIEYDNVSALEESLKDPNVCAFMVEPIQGEAGVVVPSDGYLKKVRELCTKYNVLWIADEVQTGLARTGKLLAVDYEQVQPDILILGKALSGGMYPVSAVLCNDQVMLCIKPGEHGSTYGGNPLGCRVAMAALEVLQEEKLAENAFKMGDLLRNELSTLPKDVVSVVRGKGLLNAIVINQKFDAWEVCLRLKENGLLAKPTHGDIIRFAPPLVINETQMRESIDIIRKTILSM", "length": 431 }, "evidence": [ { "id": "P04181", "url": "https://omabrowser.org/oma/group/P04181/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "pmid": "" }, { "name": "ornithine aminotransferase activity", "id": "GO:0004587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004587", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "pmid": "" }, { "name": "L-proline biosynthetic process", "id": "GO:0055129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055129", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "pmid": "" }, { "name": "arginine catabolic process to proline via ornithine", "id": "GO:0010121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010121", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "pmid": "" }, { "name": "arginine catabolic process to glutamate", "id": "GO:0019544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019544", "evidence": [ { "database": "UniProtKB", "id": "P04181", "url": "https://www.uniprot.org/uniprot/P04181" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 433, "end_pos": 435, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "25160", "name": "", "equation": "2-oxoglutarate + L-ornithine = L-glutamate + L-glutamate 5-semialdehyde", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04182-1", "P04181-1", "P29758-1" ], "evidence": [ { "id": "25160", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/25160" } ] }, { "id": "R-HSA-70654", "name": "ornithine + alpha-ketoglutarate <=> glutamate + L-glutamate gamma-semialdehyde [OAT]", "equation": "", "summary": "Mitochondrial ornithine aminotransferase (OAT) catalyzes the reversible reaction of ornithine and alpha-ketoglutarate to form glutamate semialdehyde and glutamate (Ohura et al. 1982). The active enzyme is a hexamer (Shen et al. 1998). Inherited OAT deficiency leads to ornithine accumulation in vivo and gyrate atrophy of the choroid and retina (Brody et al. 1992; Valle and Simell 2001).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-113585" ], "output_participant_list": [], "enzyme_list": [ "P04181-1" ], "evidence": [ { "id": "R-HSA-70654", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70654" } ] }, { "id": "R-HSA-70666", "name": "glutamate + L-glutamate gamma-semialdehyde <=> ornithine + alpha-ketoglutarate [OAT]", "equation": "", "summary": "Mitochondrial ornithine aminotransferase (OAT) catalyzes the reversible reaction of glutamate semialdehyde and glutamate to form ornithine and alpha-ketoglutarate (Ohura et al. 1982). The active enzyme is a hexamer (Shen et al. 1998). Inherited OAT deficiency leads to ornithine accumulation in vivo and gyrate atrophy of the choroid and retina (Brody et al. 1992; Vallee and Simell 2001).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-31339" ], "output_participant_list": [], "enzyme_list": [ "P04181-1" ], "evidence": [ { "id": "R-HSA-70666", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70666" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-113585", "participant_name": "L-Orn [mitochondrial matrix]", "crossref": [ { "id": "C00077", "database": "COMPOUND", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" }, { "id": "C00077", "database": "COMPOUND", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" }, { "id": "C00077", "database": "COMPOUND", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" }, { "id": "C00077", "database": "COMPOUND", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" }, { "id": "C00077", "database": "COMPOUND", "url": "" }, { "id": "C00077", "database": "COMPOUND", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" }, { "id": "C00077", "database": "COMPOUND", "url": "" }, { "id": "46911", "database": "ChEBI", "url": "" }, { "id": "000001532530", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-31339", "participant_name": "L-Glu5S [mitochondrial matrix]", "crossref": [ { "id": "C01165", "database": "COMPOUND", "url": "" }, { "id": "58066", "database": "ChEBI", "url": "" }, { "id": "000001532877", "database": "ZINC", "url": "" }, { "id": "C01165", "database": "COMPOUND", "url": "" }, { "id": "58066", "database": "ChEBI", "url": "" }, { "id": "000001532877", "database": "ZINC", "url": "" }, { "id": "C01165", "database": "COMPOUND", "url": "" }, { "id": "58066", "database": "ChEBI", "url": "" }, { "id": "000001532877", "database": "ZINC", "url": "" }, { "id": "C01165", "database": "COMPOUND", "url": "" }, { "id": "58066", "database": "ChEBI", "url": "" }, { "id": "000001532877", "database": "ZINC", "url": "" }, { "id": "C01165", "database": "COMPOUND", "url": "" }, { "id": "58066", "database": "ChEBI", "url": "" }, { "id": "000001532877", "database": "ZINC", "url": "" }, { "id": "C01165", "database": "COMPOUND", "url": "" }, { "id": "58066", "database": "ChEBI", "url": "" }, { "id": "000001532877", "database": "ZINC", "url": "" }, { "id": "C01165", "database": "COMPOUND", "url": "" }, { "id": "58066", "database": "ChEBI", "url": "" }, { "id": "000001532877", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { 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}, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 41 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }