{ "uniprot_canonical_ac": "P00505-1", "uniprot_ac": "P00505", "uniprot_id": "AATM_HUMAN", "mass": { "chemical_mass": 47518.0, "monoisotopic_mass": 47518.0 }, "refseq": { "ac": "NP_001273149", "name": "aspartate aminotransferase, mitochondrial isoform 2 precursor", "summary": "Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273149" }, "gene_names": [ { "name": "GOT2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00505", "id": "P00505" }, { "name": "DEE82; KAT4; KATIV; KYAT4; mitAAT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273149", "id": "NP_001273149" }, { "name": "GOT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273149", "id": "NP_001273149" }, { "name": "KYAT4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00505", "id": "P00505" } ], "protein_names": [ { "name": "Aspartate aminotransferase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00505" }, { "name": "2.6.1.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00505" }, { "name": "2.6.1.7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00505" }, { "name": "FABP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00505" }, { "name": "FABPpm", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00505" }, { "name": "Fatty acid-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00505" }, { "name": "Glutamate oxaloacetate transaminase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00505" }, { "name": "Kynurenine aminotransferase 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00505" }, { "name": "Kynurenine aminotransferase IV", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00505" }, { "name": "Kynurenine--oxoglutarate transaminase 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00505" }, { "name": "Kynurenine--oxoglutarate transaminase IV", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00505" }, { "name": "Plasma membrane-associated fatty acid-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00505" }, { "name": "Transaminase A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00505" }, { "name": "aspartate aminotransferase, mitochondrial isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273149", "id": "NP_001273149" }, { "name": "kynurenine aminotransferase IV; aspartate aminotransferase, mitochondrial; FABP-1; FABPpm; mAspAT; transaminase A; fatty acid-binding protein; glutamate oxaloacetate transaminase 2; plasma membrane-associated fatty acid-binding protein; kynurenine aminotransferase 4; kynurenine--oxoglutarate transaminase 4; kynurenine--oxoglutarate transaminase IV; aspartate transaminase 2; aspartate aminotransferase 2; glutamic-oxaloacetic transaminase 2, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273149", "id": "NP_001273149" }, { "name": "mAspAT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00505" } ], "function": [ { "annotation": "Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). As a member of the malate-aspartate shuttle, it has a key role in the intracellular NAD(H) redox balance. Is important for metabolite exchange between mitochondria and cytosol, and for amino acid metabolism. Facilitates cellular uptake of long-chain free fatty acids.", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505#function" }, { "database": "PubMed", "id": "9537447", "url": "https://glygen.org/publication/PubMed/9537447" }, { "database": "PubMed", "id": "31422819", "url": "https://glygen.org/publication/PubMed/31422819" } ] }, { "annotation": "Circular RNA circ_0003028 contributes to tumorigenesis by regulating GOT2 via miR-1298-5p in non-small cell lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001273149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273149" }, { "database": "PubMed", "id": "34077306", "url": "https://glygen.org/publication/PubMed/34077306" } ] }, { "annotation": "GOT2 Silencing Promotes Reprogramming of Glutamine Metabolism and Sensitizes Hepatocellular Carcinoma to Glutaminase Inhibitors.", "evidence": [ { "database": "RefSeq", "id": "NP_001273149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273149" }, { "database": "PubMed", "id": "35895805", "url": "https://glygen.org/publication/PubMed/35895805" } ] }, { "annotation": "Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001273149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273149" } ] }, { "annotation": "High circ-SEC31A expression predicts unfavorable prognoses in non-small cell lung cancer by regulating the miR-520a-5p/GOT-2 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001273149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273149" }, { "database": "PubMed", "id": "32499446", "url": "https://glygen.org/publication/PubMed/32499446" } ] }, { "annotation": "Low expression of GOT2 promotes tumor progress and predicts poor prognosis in hepatocellular carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001273149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273149" }, { "database": "PubMed", "id": "38095985", "url": "https://glygen.org/publication/PubMed/38095985" } ] }, { "annotation": "Surgical resection of lung cancer inhibits mRNA expression of GOT2 gene encoding kynurenine aminotransferase in leukocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_001273149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273149" }, { "database": "PubMed", "id": "38153082", "url": "https://glygen.org/publication/PubMed/38153082" } ] } ], "disease": [ { "disease_id": "DOID:0080715", "recommended_name": { "id": "DOID:0080715", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080715", "name": "developmental and epileptic encephalopathy 82", "description": "A developmental and epileptic encephalopathy chacterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21." }, "synonyms": [ { "id": "DOID:0080715", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080715", "name": "DEE82", "description": "" }, { "id": "DOID:0080715", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080715", "name": "early infantile epileptic encephalopathy 82", "description": "" }, { "id": "MONDO:0032880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032880", "name": "developmental and epileptic encephalopathy, 82", "description": "" }, { "id": "MONDO:0032880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032880", "name": "DEE82", "description": "" }, { "id": "MONDO:0032880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032880", "name": "EIEE82", "description": "" }, { "id": "MONDO:0032880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032880", "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82", "description": "" }, { "id": "MONDO:0032880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032880", "name": "developmental and epileptic encephalopathy 82", "description": "" }, { "id": "MONDO:0032880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032880", "name": "epileptic encephalopathy, early infantile, 82", "description": "" }, { "id": "MONDO:0032880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032880", "name": "Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of", "description": "" }, { "id": "MONDO:0032880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032880", "name": "Got2 Deficiency", "description": "" }, { "id": "MIM:618721", "resource": "MIM", "url": "https://www.omim.org/entry/618721", "name": "Developmental and epileptic encephalopathy 82", "description": "Developmental and epileptic encephalopathy 82" } ], "evidence": [ { "id": "618721", "database": "MIM", "url": "https://www.omim.org/entry/618721" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125166", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125166" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125166", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125166" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "95.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125166", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125166" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "70.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125166", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125166" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125166", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125166" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125166", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125166" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "93.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125166", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125166" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125166", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125166" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125166", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125166" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "83.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125166", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125166" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125166", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125166" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125166", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125166" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125166", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125166" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00505" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has 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"id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": 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}, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00505" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00505" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00505" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00505" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00505" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00505" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00505" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00505" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00505" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P00505", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00505" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of 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] }, { "id": "R-HSA-8963693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963693", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8964539", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964539", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001273149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273149", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "21824", "url": "https://www.rhea-db.org/rhea/21824", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "65560", "url": "https://www.rhea-db.org/rhea/65560", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "H3BRE7", "url": "https://www.uniprot.org/uniprot/H3BRE7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BRE7-1", "url": "https://www.uniprot.org/uniprot/H3BRE7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00505-1", "url": "https://www.uniprot.org/uniprot/P00505-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00505-2", "url": "https://www.uniprot.org/uniprot/P00505-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALLHSGRVLPGIAAAFHPGLAAAASARASSWWTHVEMGPPDPILGVTEAFKRDTNSKKMNLGVGAYRDDNGKPYVLPSVRKAEAQIAAKNLDKEYLPIGGLAEFCKASAELALGENSEVLKSGRFVTVQTISGTGALRIGASFLQRFFKFSRDVFLPKPTWGNHTPIFRDAGMQLQGYRYYDPKTCGFDFTGAVEDISKIPEQSVLLLHACAHNPTGVDPRPEQWKEIATVVKKRNLFAFFDMAYQGFASGDGDKDAWAVRHFIEQGINVCLCQSYAKNMGLYGERVGAFTMVCKDADEAKRVESQLKILIRPMYSNPPLNGARIAAAILNTPDLRKQWLQEVKVMADRIIGMRTQLVSNLKKEGSTHNWQHITDQIGMFCFTGLKPEQVERLIKEFSIYMTKDGRISVAGVTSSNVGYLAHAIHQVTK", "length": 430, "header": "sp|P00505-1|AATM_HUMAN Isoform 1 of Aspartate aminotransferase, mitochondrial OS=Homo sapiens OX=9606 GN=GOT2 PE=1 SV=3 CANONICAL=P00505-1" }, "isoforms": [ { "isoform_ac": "H3BRE7-1", "url": "", "sequence": { "sequence": "MALLHSGRVLPGIAAAFHPGLAAAASARARQRPRLPQKIWTRNTCPLGDWLNFARHLQN", "length": 59, "header": "tr|H3BRE7-1|H3BRE7_HUMAN Computationally mapped isoform of Glutamic-oxaloacetic transaminase 2 OS=Homo sapiens OX=9606 GN=GOT2 PE=1 SV=1 CANONICAL=P00505-1" }, "locus": { "chromosome": "16", "start_pos": 58734228, "end_pos": 58722191, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568368.1", "url": "https://www.ensembl.org/id/ENST00000568368.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000456205.1", "url": "https://www.ensembl.org/id/ENSP00000456205.1" } ] } }, { "isoform_ac": "P00505-1", "url": "", "sequence": { "sequence": "MALLHSGRVLPGIAAAFHPGLAAAASARASSWWTHVEMGPPDPILGVTEAFKRDTNSKKMNLGVGAYRDDNGKPYVLPSVRKAEAQIAAKNLDKEYLPIGGLAEFCKASAELALGENSEVLKSGRFVTVQTISGTGALRIGASFLQRFFKFSRDVFLPKPTWGNHTPIFRDAGMQLQGYRYYDPKTCGFDFTGAVEDISKIPEQSVLLLHACAHNPTGVDPRPEQWKEIATVVKKRNLFAFFDMAYQGFASGDGDKDAWAVRHFIEQGINVCLCQSYAKNMGLYGERVGAFTMVCKDADEAKRVESQLKILIRPMYSNPPLNGARIAAAILNTPDLRKQWLQEVKVMADRIIGMRTQLVSNLKKEGSTHNWQHITDQIGMFCFTGLKPEQVERLIKEFSIYMTKDGRISVAGVTSSNVGYLAHAIHQVTK", "length": 430, "header": "sp|P00505-1|AATM_HUMAN Isoform 1 of Aspartate aminotransferase, mitochondrial OS=Homo sapiens OX=9606 GN=GOT2 PE=1 SV=3 CANONICAL=P00505-1" }, "locus": { "chromosome": "16", "start_pos": 58734228, "end_pos": 58708174, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000245206.10", "url": "https://www.ensembl.org/id/ENST00000245206.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000245206.5", "url": "https://www.ensembl.org/id/ENSP00000245206.5" } ] } }, { "isoform_ac": "P00505-2", "url": "", "sequence": { "sequence": "MALLHSGRVLPGIAAAFHPGLAAAASARASSWWTHVEMGPPDPILGVTEAFKRDTNSKKMNLGVGAYRDDNGKPYVLPSVRKFVTVQTISGTGALRIGASFLQRFFKFSRDVFLPKPTWGNHTPIFRDAGMQLQGYRYYDPKTCGFDFTGAVEDISKIPEQSVLLLHACAHNPTGVDPRPEQWKEIATVVKKRNLFAFFDMAYQGFASGDGDKDAWAVRHFIEQGINVCLCQSYAKNMGLYGERVGAFTMVCKDADEAKRVESQLKILIRPMYSNPPLNGARIAAAILNTPDLRKQWLQEVKVMADRIIGMRTQLVSNLKKEGSTHNWQHITDQIGMFCFTGLKPEQVERLIKEFSIYMTKDGRISVAGVTSSNVGYLAHAIHQVTK", "length": 387, "header": "sp|P00505-2|AATM_HUMAN Isoform 2 of Aspartate aminotransferase, mitochondrial OS=Homo sapiens OX=9606 GN=GOT2 PE=1 SV=3 CANONICAL=P00505-1" }, "locus": { "chromosome": "16", "start_pos": 58734228, "end_pos": 58708174, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434819.2", "url": "https://www.ensembl.org/id/ENST00000434819.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000394100.2", "url": "https://www.ensembl.org/id/ENSP00000394100.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P00505", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P00505" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "26374642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26374642" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 128, "end_pos": 128, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00505" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Thr128" }, { "start_pos": 135, "end_pos": 135, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00505" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Thr135" }, { "start_pos": 143, "end_pos": 143, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00505" } ], "site_lbl": "Ser143" }, { "start_pos": 316, "end_pos": 316, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00505" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Tyr316" }, { "start_pos": 333, "end_pos": 333, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00505" } ], "site_lbl": "Thr333" }, { "start_pos": 401, "end_pos": 401, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00505" }, { "database": "PubMed", "id": "16212419", "url": "https://glygen.org/publication/PubMed/16212419" }, { "database": "phospho.ELM", "id": "P00505", "url": "http://phospho.elm.eu.org/byAccession/P00505.html" } ], "site_lbl": "Tyr401" }, { "start_pos": 414, "end_pos": 414, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00505" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr414" }, { "start_pos": 415, "end_pos": 415, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00505" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser415" }, { "start_pos": 416, "end_pos": 416, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00505" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser416" }, { "start_pos": 420, "end_pos": 420, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00505" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr420" }, { "start_pos": 429, "end_pos": 429, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00505" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr429" }, { "start_pos": 48, "end_pos": 48, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00505" } ], "site_lbl": "Thr48" }, { "start_pos": 96, "end_pos": 96, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; alternate", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" }, { "database": "iPTMnet", "id": "P00505", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00505" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "P00505", "url": "http://phospho.elm.eu.org/byAccession/P00505.html" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Tyr96" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Isolation and expression of novel human glutamate carboxypeptidases with N-acetylated alpha-linked acidic dipeptidase and dipeptidyl peptidase IV activity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Pangalos MN, Neefs JM, Somers M, Verhasselt P, Bekkers M, van der Helm L, Fraiponts E, Ashton D, Gordon RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963693" } ], "reference": [ { "type": "PubMed", "id": "10085079", "url": "https://glygen.org/publication/PubMed/10085079" } ] }, { "title": "Molecular cloning, structural characterization and chromosomal localization of human lipoyltransferase gene.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Fujiwara K, Suzuki M, Okumachi Y, Okamura-Ikeda K, Fujiwara T, Takahashi E, Motokawa Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10103005", "url": "https://glygen.org/publication/PubMed/10103005" } ] }, { "title": "Kinetics and inhibition of recombinant human cystathionine gamma-lyase. Toward the rational control of transsulfuration.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Steegborn C, Clausen T, Sondermann P, Jacob U, Worbs M, Marinkovic S, Huber R, Wahl MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1614558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1614558" } ], "reference": [ { "type": "PubMed", "id": "10212249", "url": "https://glygen.org/publication/PubMed/10212249" } ] }, { "title": "Structure, function and regulation of pyruvate carboxylase.", "journal": "The Biochemical journal", "date": "1999", "authors": "Jitrapakdee S, Wallace JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10229653", "url": "https://glygen.org/publication/PubMed/10229653" } ] }, { "title": "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.", "journal": "Nature genetics", "date": "1999", "authors": "Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10369257", "url": "https://glygen.org/publication/PubMed/10369257" } ] }, { "title": "The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.", "journal": "Human molecular genetics", "date": "1999", "authors": "Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10484776", "url": "https://glygen.org/publication/PubMed/10484776" } ] }, { "title": "Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Rumsby G, Cregeen DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10524214", "url": "https://glygen.org/publication/PubMed/10524214" } ] }, { "title": "Organization and sequence of the gene for the human mitochondrial dicarboxylate carrier: evolution of the carrier family.", "journal": "The Biochemical journal", "date": "1999", "authors": "Fiermonte G, Dolce V, Arrigoni R, Runswick MJ, Walker JE, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10585886", "url": "https://glygen.org/publication/PubMed/10585886" } ] }, { "title": "Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues.", "journal": "The Biochemical journal", "date": "2000", "authors": "Del Arco A, Agudo M, Satrustegui J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10642534", "url": "https://glygen.org/publication/PubMed/10642534" } ] }, { "title": "Human glyceraldehyde 3-phosphate dehydrogenase-2 gene is expressed specifically in spermatogenic cells.", "journal": "Journal of andrology", "date": "2000", "authors": "Welch JE, Brown PL, O'Brien DA, Magyar PL, Bunch DO, Mori C, Eddy EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10714828", "url": "https://glygen.org/publication/PubMed/10714828" } ] }, { "title": "Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Jones JM, Morrell JC, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10777549", "url": "https://glygen.org/publication/PubMed/10777549" } ] }, { "title": "Identification and expression of a cDNA for human glycolate oxidase.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Williams E, Cregeen D, Rumsby G", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10978532", "url": "https://glygen.org/publication/PubMed/10978532" } ] }, { "title": "Do mammalian cells synthesize lipoic acid? 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Zingg BC, Mohrenweiser HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8571957", "url": "https://glygen.org/publication/PubMed/8571957" } ] }, { "title": "The formation of a disulfide cross-link between the two subunits demonstrates the dimeric structure of the mitochondrial oxoglutarate carrier.", "journal": "Biochimica et biophysica acta", "date": "1996", "authors": "Bisaccia F, Zara V, Capobianco L, Iacobazzi V, Mazzeo M, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8597574", "url": "https://glygen.org/publication/PubMed/8597574" } ] }, { "title": "Molecular cloning, sequencing and expression of the cDNA of the mitochondrial form of phosphoenolpyruvate carboxykinase from human liver.", "journal": "The Biochemical journal", "date": "1996", "authors": "Modaressi S, Christ B, Bratke J, Zahn S, Heise T, Jungermann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8645161", "url": "https://glygen.org/publication/PubMed/8645161" } ] }, { "title": "Cloning and expression of human liver rhodanese cDNA.", "journal": "Biochemical and biophysical research communications", "date": "1997", "authors": "Aita N, Ishii K, Akamatsu Y, Ogasawara Y, Tanabe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1614558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1614558" } ], "reference": [ { "type": "PubMed", "id": "9070219", "url": "https://glygen.org/publication/PubMed/9070219" } ] }, { "title": "Structural and functional characterization of the human brain D-aspartate oxidase.", "journal": "Journal of biochemistry", "date": "1997", "authors": "Setoyama C, Miura R", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "9163533", "url": "https://glygen.org/publication/PubMed/9163533" } ] }, { "title": "Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.", "journal": "American journal of human genetics", "date": "1997", "authors": "Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9382095", "url": "https://glygen.org/publication/PubMed/9382095" } ] }, { "title": "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.", "journal": "FEBS letters", "date": "1997", "authors": "Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9428641", "url": "https://glygen.org/publication/PubMed/9428641" } ] }, { "title": "Crystal structure of human recombinant ornithine aminotransferase.", "journal": "Journal of molecular biology", "date": "1998", "authors": "Shen BW, Hennig M, Hohenester E, Jansonius JN, Schirmer T", "evidence": [ { "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": "Ethanol up-regulates fatty acid uptake and plasma membrane expression and export of mitochondrial aspartate aminotransferase in HepG2 cells.", "journal": "Hepatology (Baltimore, Md.)", "date": "1998", "authors": "Zhou SL, Gordon RE, Bradbury M, Stump D, Kiang CL, Berk PD", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" }, { "database": "Reactome", "id": "R-HSA-1614558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1614558" } ], "reference": [ { "type": "PubMed", "id": "9537447", "url": "https://glygen.org/publication/PubMed/9537447" } ] }, { "title": "Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression.", "journal": "The Biochemical journal", "date": "1998", "authors": "Modaressi S, Brechtel K, Christ B, Jungermann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9657976", "url": "https://glygen.org/publication/PubMed/9657976" } ] }, { "title": "Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.", "journal": "Gene", "date": "1998", "authors": "Tillmann H, Eschrich K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9678974", "url": "https://glygen.org/publication/PubMed/9678974" } ] }, { "title": "A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.", "journal": "American journal of human genetics", "date": "1998", "authors": "Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9758626", "url": "https://glygen.org/publication/PubMed/9758626" } ] }, { "title": "Aggregation states of mitochondrial malate dehydrogenase.", "journal": "Protein science : a publication of the Protein Society", "date": "1998", "authors": "Sanchez SA, Hazlett TL, Brunet JE, Jameson DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9792106", "url": "https://glygen.org/publication/PubMed/9792106" } ] }, { "title": "C-terminal tripeptide Ser-Asn-Leu (SNL) of human D-aspartate oxidase is a functional peroxisome-targeting signal.", "journal": "The Biochemical journal", "date": "1998", "authors": "Amery L, Brees C, Baes M, Setoyama C, Miura R, Mannaerts GP, Van Veldhoven PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "9820813", "url": "https://glygen.org/publication/PubMed/9820813" } ] } ], "pathway": [ { "id": "hsa:2806", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2806", "resource": "KEGG Pathway" }, { "id": "R-HSA-1614558", "name": "Degradation of cysteine and homocysteine", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1614558", "resource": "Reactome", "description": "Degradation of cysteine and homocysteine" }, { "id": "R-HSA-389661", "name": "Glyoxylate metabolism and glycine degradation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661", "resource": "Reactome", "description": "Glyoxylate metabolism and glycine degradation" }, { "id": "R-HSA-70263", "name": "Gluconeogenesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263", "resource": "Reactome", "description": "Gluconeogenesis" }, { "id": "R-HSA-8963693", "name": "Aspartate and asparagine metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963693", "resource": "Reactome", "description": "Aspartate and asparagine metabolism" }, { "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": "P00507-1", "protein_name": "Aspartate aminotransferase, mitochondrial", "gene_name": "Got2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MALLHSGRVLSGMAAAFHPGLAAAASARASSWWTHVEMGPPDPILGVTEAFKRDTNSKKMNLGVGAYRDDNGKPYVLPSVRKAEAQIAGKNLDKEYLPIGGLADFCKASAELALGENSEVLKSGRFVTVQTISGTGALRVGASFLQRFFKFSRDVFLPKPSWGNHTPIFRDAGMQLQGYRYYDPKTCGFDFSGALEDISKIPEQSVLLLHACAHNPTGVDPRPEQWKEMAAVVKKKNLFAFFDMAYQGFASGDGDKDAWAVRHFIEQGINVCLCQSYAKNMGLYGERVGAFTVVCKDAEEAKRVESQLKILIRPLYSNPPLNGARIAATILTSPDLRKQWLQEVKGMADRIISMRTQLVSNLKKEGSSHNWQHITDQIGMFCFTGLKPEQVERLTKEFSVYMTKDGRISVAGVTSGNVGYLAHAIHQVTK", "length": 430 }, "evidence": [ { "id": "45919043", "url": "http://www.informatics.jax.org/homology/45919043", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P05202-1", "protein_name": "Aspartate aminotransferase, mitochondrial", "gene_name": "Got2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALLHSSRILSGMAAAFHPGLAAAASARASSWWTHVEMGPPDPILGVTEAFKRDTNSKKMNLGVGAYRDDNGKPYVLPSVRKAEAQIAAKNLDKEYLPIGGLAEFCKASAELALGENNEVLKSGRFVTVQTISGTGALRVGASFLQRFFKFSRDVFLPKPSWGNHTPIFRDAGMQLQGYRYYDPKTCGFDFSGALEDISKIPEQSVLLLHACAHNPTGVDPRPEQWKEIASVVKKKNLFAFFDMAYQGFASGDGDKDAWAVRHFIEQGINVCLCQSYAKNMGLYGERVGAFTVVCKDAEEAKRVESQLKILIRPLYSNPPLNGARIAATILTSPDLRKQWLQEVKGMADRIISMRTQLVSNLKKEGSSHNWQHITDQIGMFCFTGLKPEQVERLTKEFSVYMTKDGRISVAGVTSGNVGYLAHAIHQVTK", "length": 430 }, "evidence": [ { "id": "45919043", "url": "http://www.informatics.jax.org/homology/45919043", "database": "MGI" }, { "id": "P00505", "url": "https://omabrowser.org/oma/group/P00505/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q8IPY3-1", "protein_name": "Aspartate aminotransferase", "gene_name": "Got2", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSRTIIMTLKDIVHVWSNDPGERMCRANRVSTWFSEVQMGPPDAILGVTEAFKKDTNPKKINLGAGAYRDDNTQPFVLPSVREAEKRVVSRSLDKEYATIIGIPEFYNKAIELALGKGSKRLAAKHNVTAQSISGTGALRIGAAFLAKFWQGNREIYIPSPSWGNHVAIFEHAGLPVNRYRYYDKDTCALDFGGLIEDLKKIPEKSIVLLHACAHNPTGVDPTLEQWREISALVKKRNLYPFIDMAYQGFATGDIDRDAQAVRTFEADGHDFCLAQSFAKNMGLYGERAGAFTVLCSDEEEAARVMSQVKILIRGLYSNPPVHGARIAAEILNNEDLRAQWLKDVKLMADRIIDVRTKLKDNLIKLGSSQNWDHIVNQIGMFCFTGLKPEQVQKLIKDHSVYLTNDGRVSMAGVTSKNVEYLAESIHKVTK", "length": 431 }, "evidence": [ { "id": "P00505", "url": "https://omabrowser.org/oma/group/P00505/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "kynurenine-oxoglutarate transaminase activity", "id": "GO:0016212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016212", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "L-aspartate:2-oxoglutarate aminotransferase activity", "id": "GO:0004069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004069", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "2-oxoglutarate metabolic process", "id": "GO:0006103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006103", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "aspartate catabolic process", "id": "GO:0006533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006533", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "glutamate metabolic process", "id": "GO:0006536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006536", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "oxaloacetate metabolic process", "id": "GO:0006107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006107", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "aspartate metabolic process", "id": "GO:0006531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006531", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "aspartate biosynthetic process", "id": "GO:0006532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006532", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "fatty acid transport", "id": "GO:0015908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015908", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "4-hydroxyproline catabolic process", "id": "GO:0019470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019470", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "glutamate catabolic process to aspartate", "id": "GO:0019550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019550", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" }, { "name": "glutamate catabolic process to 2-oxoglutarate", "id": "GO:0019551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019551", "evidence": [ { "database": "UniProtKB", "id": "P00505", "url": "https://www.uniprot.org/uniprot/P00505" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 164, "end_pos": 166, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "21824", "name": "", "equation": "2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00507-1", "P13221-1", "A0A8I6GJR0-1", "A0A8I6GJD2-1", "Q8NHS2-1", "P17174-1", "P00505-1", "Q7TSV6-1", "P05201-1", "P05202-1", "P23542-1", "Q01802-1", "Q54SF7-1", "Q55F21-1", "Q8IPY3-1" ], "evidence": [ { "id": "21824", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/21824" } ] }, { "id": "65560", "name": "", "equation": "2-oxoglutarate + L-kynurenine = H2O + kynurenate + L-glutamate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q08415-2", "Q58FK9-1", "P00507-1", "Q64602-1", "A0A8I6GJR0-1", "A0A8I6GJD2-1", "Q6YP21-1", "Q8N5Z0-1", "P00505-1", "Q16773-1", "Q71RI9-1", "Q9WVM8-1", "P05202-1", "Q8BTY1-1", "P38840-1", "P47039-1", "Q54KM6-1", "Q55F21-1" ], "evidence": [ { "id": "65560", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/65560" } ] }, { "id": "R-HSA-6784393", "name": "PXLP-K279-GOT2 dimer transaminates 4-OH-L-glutamate to 4-hydroxy-2-oxoglutarate (HOG)", "equation": "", "summary": "GOT2 dimer transaminates 4-OH-L-glutamate (4-OH-L-Glu) and oxaloacetate (OA) to form 4-hydroxy-2-oxoglutarate (HOG) and L-Asp. The ability of human GOT2 to catalyze this reaction has been inferred from studies of its rat homologue (Maitra & Dekker 1964).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-6784236" ], "output_participant_list": [], "enzyme_list": [ "P00505-1" ], "evidence": [ { "id": "R-HSA-6784393", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784393" } ] }, { "id": "R-HSA-70596", "name": "GOT2 dimer deaminates L-Asp", "equation": "", "summary": "Mitochondrial glutamate oxaloacetate transaminase 2 (aspartate aminotransferase 2 - GOT2) catalyzes the reversible reaction of aspartate (L-Asp) and 2-oxoglutarate (2OG, alpha-ketoglutarate) to form oxaloacetate (OA) and glutamate (L-Glu) (Martini et al. 1985). The active form of the enzyme is inferred to be a dimer with one molecule of pyridoxal phosphate associated with each monomer.", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00505-1" ], "evidence": [ { "id": "R-HSA-70596", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70596" } ] }, { "id": "R-HSA-70613", "name": "GOT2 transaminates oxaloacetate and glutamate", "equation": "", "summary": "Mitochondrial GOT2 (glutamate oxaloacetate transaminase 2, also known as aspartate aminotransferase, mitochondrial) catalyzes the reversible transamination of oxaloacetate (OA) and glutamate (L-Glu) to form aspartate (L-Asp) and 2-oxoglutarate (2-OG, alpha-ketoglutarate) (Martini et al. 1985; van Karnebeek et al. 2019). The active form of the enzyme is a homodimer of GOT2 monomers each conjugated with pyridoxal phosphate on lysine residue 279.", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00505-1" ], "evidence": [ { "id": "R-HSA-70613", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70613" } ] }, { "id": "R-HSA-9012597", "name": "GOT2 dimer transfers amino group from L-Cys to 2OG to form 3MPYR and Glu", "equation": "", "summary": "Hydrogen sulfide (H2S) produced endogenously has been established as the third gaseous signaling molecule, a smooth muscle relaxant and a neuroprotectant (Kimura 2011a, 2011b). Three human enzyme systems produce H2S in the brain, retina and vascular endothelial cells. 3-mercaptopyruvate sulphurtransferase (MPST, aka 3MST) in conjunction with cysteine (aspartate) aminotransferase (CAT, aka GOT2) is decribed here. The first step is the reversible transamination between L-cysteine (L-Cys) and 2-oxoglutarate (2OG, aka alpha-ketoglutarate) to form 3-methylpyruvate (3MPYR) and glutamate (Glu) catalysed by GOT2. Two forms of human aspartate aminotransferase (GOT) enzymes exist; cytosolic (GOT1) and mitochondrial (GOT2). Both are dimeric proteins requiring pyridoxal phosphate for activity. Human GOT2 (Zhou et al. 1998) possesses the same catalytic activity as its rat counterpart (Ubuka et al. 1978).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-379721" ], "output_participant_list": [], "enzyme_list": [ "P00505-1" ], "evidence": [ { "id": "R-HSA-9012597", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9012597" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-379721", "participant_name": "L-Cys [mitochondrial matrix]", "crossref": [ { "id": "000000895042", "database": "ZINC", "url": "" }, { "id": "C00097", "database": "COMPOUND", "url": "" }, { "id": "35235", "database": "ChEBI", "url": "" }, { "id": "C00097", "database": "COMPOUND", "url": "" }, { "id": "35235", "database": "ChEBI", "url": "" }, { "id": "000000895042", "database": "ZINC", "url": "" }, { "id": "35235", "database": "ChEBI", "url": "" }, { "id": "000000895042", "database": "ZINC", "url": "" }, { "id": "C00097", "database": "COMPOUND", "url": "" }, { "id": "35235", "database": "ChEBI", "url": "" }, { "id": "000000895042", "database": "ZINC", "url": "" }, { "id": "C00097", "database": "COMPOUND", "url": "" }, { "id": "C00097", "database": "COMPOUND", "url": "" }, { "id": "35235", "database": "ChEBI", "url": "" }, { "id": "000000895042", "database": "ZINC", "url": "" }, { "id": "000000895042", "database": "ZINC", "url": "" }, { "id": "C00097", "database": "COMPOUND", "url": "" }, { "id": "35235", "database": "ChEBI", "url": "" }, { "id": "C00097", "database": "COMPOUND", "url": "" }, { "id": "000000895042", "database": "ZINC", "url": "" }, { "id": "35235", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-6784236", "participant_name": "4-OH-L-Glu [mitochondrial matrix]", "crossref": [ { "id": "32812", "database": "ChEBI", "url": "" }, { "id": "000000901639", "database": "ZINC", "url": "" }, { "id": "000000895967", "database": "ZINC", "url": "" }, { "id": "32812", "database": "ChEBI", "url": "" }, { "id": "000000901639", "database": "ZINC", "url": "" }, { "id": "000000895967", "database": "ZINC", "url": "" }, { "id": "32812", "database": "ChEBI", "url": "" }, { "id": "000000895967", "database": "ZINC", "url": "" }, { "id": "000000901639", "database": "ZINC", "url": "" }, { "id": "000000901639", "database": "ZINC", "url": "" }, { "id": "32812", "database": "ChEBI", "url": "" }, { "id": "000000895967", "database": "ZINC", "url": "" }, { "id": "32812", "database": "ChEBI", "url": "" }, { "id": "000000901639", "database": "ZINC", "url": "" }, { "id": "000000895967", "database": "ZINC", "url": "" }, { "id": "000000901639", "database": "ZINC", "url": "" }, { "id": "000000895967", "database": "ZINC", "url": "" }, { "id": "32812", "database": "ChEBI", "url": "" }, { "id": "000000901639", "database": "ZINC", "url": "" }, { "id": "000000895967", "database": "ZINC", "url": "" }, { "id": "32812", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A0A8I6GJD2", "gene_name": "ENSRNOG00000064101", "activity": [ { "ec_number": "2.6.1.7", "activity": "2-oxoglutarate + 3-hydroxy-L-kynurenine = H2O + L-glutamate + xanthurenate.", "evidence": [ { "id": "A0A8I6GJD2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6GJD2" } ] }, { "ec_number": "2.6.1.7", "activity": "", "evidence": [ { "id": "A0A8I6GJD2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6GJD2" } ] } ] }, { "uniprot_ac": "A0A8I6GJR0", "gene_name": "Got2-ps6", "activity": [ { "ec_number": "2.6.1.1", "activity": "2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate.", "evidence": [ { "id": "A0A8I6GJR0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6GJR0" } ] }, { "ec_number": "2.6.1.1", "activity": "", "evidence": [ { "id": "A0A8I6GJR0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6GJR0" } ] } ] }, { "uniprot_ac": "P00505", "gene_name": "GOT2", "activity": [ { "ec_number": "2.6.1.7", "activity": "2-oxoglutarate + 3-hydroxy-L-kynurenine = H2O + L-glutamate + xanthurenate.", "evidence": [ { "id": "P00505", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00505" } ] }, { "ec_number": "2.6.1.1", "activity": "2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate.", "evidence": [ { "id": "P00505", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00505" } ] }, { "ec_number": "2.6.1.1", "activity": "", "evidence": [ { "id": "P00505", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00505" } ] }, { "ec_number": "2.6.1.7", "activity": "", "evidence": [ { "id": "P00505", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00505" } ] } ] }, { "uniprot_ac": "P00507", "gene_name": "Got2", "activity": [ { "ec_number": "2.6.1.1", "activity": "2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate.", "evidence": [ { "id": "P00507", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00507" } ] }, { "ec_number": "2.6.1.1", "activity": "", "evidence": [ { "id": "P00507", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00507" } ] }, { "ec_number": "2.6.1.7", "activity": "2-oxoglutarate + 3-hydroxy-L-kynurenine = H2O + L-glutamate + xanthurenate.", "evidence": [ { "id": "P00507", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00507" } ] }, { "ec_number": "2.6.1.7", "activity": "", "evidence": [ { "id": "P00507", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00507" } ] } ] }, { "uniprot_ac": "P05201", "gene_name": "Got1", "activity": [ { "ec_number": "2.6.1.1", "activity": "2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate.", "evidence": [ { "id": "P05201", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05201" } ] }, { "ec_number": "2.6.1.3", "activity": "2-oxoglutarate + L-cysteine = 2-oxo-3-sulfanylpropanoate + L-glutamate.", "evidence": [ { "id": "P05201", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05201" } ] }, { "ec_number": "2.6.1.3", "activity": "", "evidence": [ { "id": "P05201", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05201" } ] }, { "ec_number": "2.6.1.1", "activity": "", "evidence": [ { "id": "P05201", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05201" } ] } ] }, { "uniprot_ac": "P05202", "gene_name": "Got2", "activity": [ { "ec_number": "2.6.1.7", "activity": "2-oxoglutarate + 3-hydroxy-L-kynurenine = H2O + L-glutamate + xanthurenate.", "evidence": [ { "id": "P05202", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05202" } ] }, { "ec_number": "2.6.1.1", "activity": "2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate.", "evidence": [ { "id": "P05202", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05202" } ] }, { "ec_number": "2.6.1.1", "activity": "", "evidence": [ { "id": "P05202", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05202" } ] }, { "ec_number": "2.6.1.7", "activity": "", "evidence": [ { "id": "P05202", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05202" } ] } ] }, { "uniprot_ac": "P13221", "gene_name": "Got1", "activity": [ { "ec_number": "2.6.1.1", "activity": "2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate.", "evidence": [ { "id": "P13221", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13221" } ] }, { "ec_number": "2.6.1.1", "activity": "", "evidence": [ { "id": "P13221", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13221" } ] }, { "ec_number": "2.6.1.3", "activity": "2-oxoglutarate + L-cysteine = 2-oxo-3-sulfanylpropanoate + L-glutamate.", "evidence": [ { "id": "P13221", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13221" } ] }, { "ec_number": "2.6.1.3", "activity": "", "evidence": [ { "id": "P13221", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13221" } ] } ] }, { "uniprot_ac": "P17174", "gene_name": "GOT1", "activity": [ { "ec_number": "2.6.1.1", "activity": "2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate.", "evidence": [ { "id": "P17174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17174" } ] }, { "ec_number": "2.6.1.3", "activity": "2-oxoglutarate + L-cysteine = 2-oxo-3-sulfanylpropanoate + L-glutamate.", "evidence": [ { "id": "P17174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17174" } ] }, { "ec_number": "2.6.1.3", "activity": "", "evidence": [ { "id": "P17174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17174" } ] }, { "ec_number": "2.6.1.1", "activity": "", "evidence": [ { "id": "P17174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17174" } ] } ] }, { "uniprot_ac": "P23542", "gene_name": "AAT2", "activity": [ { "ec_number": "2.6.1.1", "activity": "2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate.", "evidence": [ { "id": "P23542", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23542" } ] }, { "ec_number": "2.6.1.1", "activity": "", "evidence": [ { "id": "P23542", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23542" } ] } ] }, { "uniprot_ac": "P38840", "gene_name": "ARO9", "activity": [ { "ec_number": "2.6.1.7", "activity": "2-oxoglutarate + 3-hydroxy-L-kynurenine = H2O + L-glutamate + xanthurenate.", "evidence": [ { "id": "P38840", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38840" } ] }, { "ec_number": "2.6.1.57", "activity": "2-oxoglutarate + L-phenylalanine = 3-phenylpyruvate + L-glutamate.", "evidence": [ { "id": "P38840", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38840" } ] }, { "ec_number": "2.6.1.57", "activity": "", "evidence": [ { "id": "P38840", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38840" } ] } ] }, { "uniprot_ac": "P47039", "gene_name": "BNA3", "activity": [ { "ec_number": "2.6.1.7", "activity": "2-oxoglutarate + 3-hydroxy-L-kynurenine = H2O + L-glutamate + xanthurenate.", "evidence": [ { "id": "P47039", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47039" } ] }, { "ec_number": "2.6.1.7", "activity": "", "evidence": [ { "id": "P47039", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47039" } ] } ] }, { "uniprot_ac": "Q01802", "gene_name": "AAT1", "activity": [ { "ec_number": "2.6.1.1", "activity": "2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate.", "evidence": [ { "id": "Q01802", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01802" } ] }, { "ec_number": "2.6.1.1", "activity": "", "evidence": [ { "id": "Q01802", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01802" } ] } ] }, { "uniprot_ac": "Q08415", "gene_name": "Kyat1", "activity": [ { "ec_number": "2.6.1.64", "activity": "3-phenylpyruvate + L-glutamine = 2-oxoglutaramate + L-phenylalanine.", "evidence": [ { "id": "Q08415", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08415" } ] }, { "ec_number": "4.4.1.13", "activity": "an S-substituted L-cysteine + H2O = a thiol + NH4(+) + pyruvate.", "evidence": [ { "id": "Q08415", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08415" } ] }, { "ec_number": "2.6.1.7", "activity": "2-oxoglutarate + 3-hydroxy-L-kynurenine = H2O + L-glutamate + xanthurenate.", "evidence": [ { "id": "Q08415", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08415" } ] }, { "ec_number": "2.6.1.7", "activity": "", "evidence": [ { "id": "Q08415", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08415" } ] } ] }, { "uniprot_ac": "Q16773", "gene_name": "KYAT1", "activity": [ { "ec_number": "4.4.1.13", "activity": "an S-substituted L-cysteine + H2O = a thiol + NH4(+) + pyruvate.", "evidence": [ { "id": "Q16773", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16773" } ] }, { "ec_number": "4.4.1.13", "activity": "", "evidence": [ { "id": "Q16773", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16773" } ] }, { "ec_number": "2.6.1.7", "activity": "2-oxoglutarate + 3-hydroxy-L-kynurenine = H2O + L-glutamate + xanthurenate.", "evidence": [ { "id": "Q16773", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16773" } ] }, { "ec_number": "2.6.1.7", "activity": "", "evidence": [ { "id": "Q16773", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16773" } ] }, { "ec_number": "2.6.1.64", "activity": "3-phenylpyruvate + L-glutamine = 2-oxoglutaramate + L-phenylalanine.", "evidence": [ { "id": "Q16773", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16773" } ] } ] }, { "uniprot_ac": "Q54KM6", "gene_name": "ccbl", "activity": [ { "ec_number": "2.6.1.64", "activity": "3-phenylpyruvate + L-glutamine = 2-oxoglutaramate + L-phenylalanine.", "evidence": [ { "id": "Q54KM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54KM6" } ] }, { "ec_number": "4.4.1.13", "activity": "an S-substituted L-cysteine + H2O = a thiol + NH4(+) + pyruvate.", "evidence": [ { "id": "Q54KM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54KM6" } ] }, { "ec_number": "2.6.1.7", "activity": "2-oxoglutarate + 3-hydroxy-L-kynurenine = H2O + L-glutamate + xanthurenate.", "evidence": [ { "id": "Q54KM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54KM6" } ] }, { "ec_number": "2.6.1.7", "activity": "", "evidence": [ { "id": "Q54KM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54KM6" } ] } ] }, { "uniprot_ac": "Q54SF7", "gene_name": "aatB", "activity": [ { "ec_number": "2.6.1.1", "activity": "2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate.", "evidence": [ { "id": "Q54SF7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54SF7" } ] }, { "ec_number": "2.6.1.1", "activity": "", "evidence": [ { "id": "Q54SF7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54SF7" } ] } ] }, { "uniprot_ac": "Q55F21", "gene_name": "aatA", "activity": [ { "ec_number": "2.6.1.7", "activity": "2-oxoglutarate + 3-hydroxy-L-kynurenine = H2O + L-glutamate + xanthurenate.", "evidence": [ { "id": "Q55F21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55F21" } ] }, { "ec_number": "2.6.1.1", "activity": "2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate.", "evidence": [ { "id": "Q55F21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55F21" } ] }, { "ec_number": "2.6.1.7", "activity": "", "evidence": [ { "id": "Q55F21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55F21" } ] }, { "ec_number": "2.6.1.1", "activity": "", "evidence": [ { "id": "Q55F21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55F21" } ] } ] }, { "uniprot_ac": "Q58FK9", "gene_name": "Kyat3", "activity": [ { "ec_number": "4.4.1.13", "activity": "an S-substituted L-cysteine + H2O = a thiol + NH4(+) + pyruvate.", "evidence": [ { "id": "Q58FK9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q58FK9" } ] }, { "ec_number": "2.6.1.63", "activity": "3-hydroxy-L-kynurenine + glyoxylate = glycine + H2O + xanthurenate.", "evidence": [ { "id": "Q58FK9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q58FK9" } ] }, { "ec_number": "2.6.1.7", "activity": "2-oxoglutarate + 3-hydroxy-L-kynurenine = H2O + L-glutamate + xanthurenate.", "evidence": [ { "id": "Q58FK9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q58FK9" } ] }, { "ec_number": "2.6.1.7", "activity": "", "evidence": [ { "id": "Q58FK9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q58FK9" } ] }, { "ec_number": "4.4.1.13", "activity": "", "evidence": [ { "id": "Q58FK9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q58FK9" } ] }, { "ec_number": "2.6.1.63", "activity": "", "evidence": [ { "id": "Q58FK9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q58FK9" } ] } ] }, { "uniprot_ac": "Q64602", "gene_name": "Aadat", "activity": [ { "ec_number": "2.6.1.63", "activity": "3-hydroxy-L-kynurenine + glyoxylate = glycine + H2O + xanthurenate.", "evidence": [ { "id": "Q64602", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64602" } ] }, { "ec_number": "2.6.1.39", "activity": "2-oxoglutarate + L-2-aminoadipate = 2-oxoadipate + L-glutamate.", "evidence": [ { "id": "Q64602", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64602" } ] }, { "ec_number": "2.6.1.7", "activity": "2-oxoglutarate + 3-hydroxy-L-kynurenine = H2O + L-glutamate + xanthurenate.", "evidence": [ { "id": "Q64602", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64602" } ] }, { "ec_number": "2.6.1.4", "activity": "2-oxoglutarate + glycine = glyoxylate + L-glutamate.", "evidence": [ { 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