{ "uniprot_canonical_ac": "O15382-1", "uniprot_ac": "O15382", "uniprot_id": "BCAT2_HUMAN", "mass": { "chemical_mass": 44288.0, "monoisotopic_mass": 44288.0 }, "refseq": { "ac": "NP_001158245", "name": "branched-chain-amino-acid aminotransferase, mitochondrial isoform b", "summary": "This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158245" }, "gene_names": [ { "name": "BCAT2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15382", "id": "O15382" }, { "name": "BCAM; BCATM; BCT2; HVLI; PP18", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158245", "id": "NP_001158245" }, { "name": "BCAT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158245", "id": "NP_001158245" }, { "name": "BCATM", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15382", "id": "O15382" }, { "name": "BCT2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15382", "id": "O15382" }, { "name": "ECA40", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15382", "id": "O15382" } ], "protein_names": [ { "name": "Branched-chain-amino-acid aminotransferase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15382" }, { "name": "2.6.1.42", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15382" }, { "name": "BCAT(m)", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15382" }, { "name": "PP18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15382" }, { "name": "Placental protein 18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15382" }, { "name": "branched chain aminotransferase 2, mitochondrial; placental protein 18; branched chain amino-acid transaminase 2, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158245", "id": "NP_001158245" }, { "name": "branched-chain-amino-acid aminotransferase, mitochondrial isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158245", "id": "NP_001158245" } ], "function": [ { "annotation": "Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults.", "evidence": [ { "database": "RefSeq", "id": "NP_001158245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158245" }, { "database": "PubMed", "id": "34511290", "url": "https://glygen.org/publication/PubMed/34511290" } ] }, { "annotation": "BCAT2 promotes melanoma progression by activating lipogenesis via the epigenetic regulation of FASN and ACLY expressions. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001158245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158245" }, { "database": "PubMed", "id": "37801083", "url": "https://glygen.org/publication/PubMed/37801083" } ] }, { "annotation": "Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine (PubMed:8702755, PubMed:25653144, PubMed:17050531). May also function as a transporter of branched chain alpha-keto acids (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382#function" }, { "database": "PubMed", "id": "8702755", "url": "https://glygen.org/publication/PubMed/8702755" }, { "database": "PubMed", "id": "17050531", "url": "https://glygen.org/publication/PubMed/17050531" }, { "database": "UniProtKB", "id": "O35854", "url": "https://www.uniprot.org/uniprot/O35854#function" }, { "database": "PubMed", "id": "25653144", "url": "https://glygen.org/publication/PubMed/25653144" } ] }, { "annotation": "Deficiency of BCAT2-mediated branched-chain amino acid catabolism promotes colorectal cancer development.", "evidence": [ { "database": "RefSeq", "id": "NP_001158245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158245" }, { "database": "PubMed", "id": "37926361", "url": "https://glygen.org/publication/PubMed/37926361" } ] }, { "annotation": "Effect of the BCAT2 polymorphism (rs11548193) on plasma branched-chain amino acid concentrations after dietary intervention in subjects with obesity and insulin resistance.", "evidence": [ { "database": "RefSeq", "id": "NP_001158245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158245" }, { "database": "PubMed", "id": "34340727", "url": "https://glygen.org/publication/PubMed/34340727" } ] }, { "annotation": "This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001158245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158245" } ] } ], "disease": [ { "disease_id": "MONDO:0100058", "recommended_name": { "id": "MONDO:0100058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100058", "name": "hypervalinemia and hyperleucine-isoleucinemia", "description": "Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective -keto acids." }, "synonyms": [ { "id": "MONDO:0100058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100058", "name": "HVLI", "description": "" }, { "id": "MONDO:0100058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100058", "name": "branched-chain aminotransferase deficiency", "description": "" }, { "id": "MONDO:0100058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100058", "name": "hypervalinemia and hyperleucine-isoleucinemia", "description": "" }, { "id": "MONDO:0100058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100058", "name": "hypervalinemia or hyperleucine-isoleucinemia", "description": "" }, { "id": "MIM:618850", "resource": "MIM", "url": "https://www.omim.org/entry/618850", "name": "Hypervalinemia and hyperleucine-isoleucinemia", "description": "Hypervalinemia and hyperleucine-isoleucinemia" } ], "evidence": [ { "id": "618850", "database": "MIM", "url": "https://www.omim.org/entry/618850" } ] } ], "snv": [ { "evidence": [ { "id": "O15382", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15382" } ], "glycoeffect": [], "start_pos": 153, "end_pos": 153, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "48800055", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E153", "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": "" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant 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"MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 342, "end_pos": 342, "sequence_org": "C", "sequence_mut": "A", "comment": "Reduces activity about 6-fold.", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" }, { "database": "PubMed", "id": "17050531", "url": "https://glygen.org/publication/PubMed/17050531" } ] }, { "start_pos": 345, "end_pos": 345, "sequence_org": "C", "sequence_mut": "A", "comment": "Slight reduction of activity.", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" }, { "database": "PubMed", "id": "17050531", "url": "https://glygen.org/publication/PubMed/17050531" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult 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"http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "81.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105552" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105552" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105552" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105552" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "95.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105552" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105552" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "76.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105552", "url": 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"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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15382", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15382" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15382" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O15382", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15382" } ], "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", 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"MTQKPHKKPGPGEPLVFGKTFTDHMLMVEWNDKGWGQPRIQPFQNLTLHPASSSLHYSLQLFEGMKAFKGKDQQVRLFRPWLNMDRMLRSAMRLCLPSFDKLELLECIRRLIEVDKDWVPDAAGTSLYVRPVLIGNEPSLGVSQPTRALLFVILCPVGAYFPGGSVTPVSLLADPAFIRAWVGGVGNYKLGGNYGPTVLVQQEALKRGCEQVLWLYGPDHQLTEVGTMNIFVYWTHEDGVLELVTPPLNGVILPGVVRQSLLDMAQTWGEFRVVERTITMKQLLRALEEGRVREVFGSGTACQVCPVHRILYKDRNLHIPTMENGPELILRFQKELKEIQYGIRAHEWMFPV", "length": 352, "header": "tr|B3KSI3-1|B3KSI3_HUMAN Computationally mapped isoform of Branched-chain-amino-acid aminotransferase OS=Homo sapiens OX=9606 GN=BCAT2 PE=1 SV=1 CANONICAL=O15382-1" }, "locus": { "chromosome": "19", "start_pos": 48806696, "end_pos": 48795429, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000597011.5", "url": "https://www.ensembl.org/id/ENST00000597011.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000469651.1", "url": "https://www.ensembl.org/id/ENSP00000469651.1" } ] } }, { "isoform_ac": "M0QXF9-1", "url": "", "sequence": { "sequence": 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"isoform_ac": "M0QZ10-1", "url": "", "sequence": { "sequence": "MAAAALGQIWARKLLSVPWLLCGPRRYASSSFKAADLQLEMTQKPHKKPGPGEPLVFGKTFTDHMLMVEWNDKGWGQPRIQPFQNLTLHPASSSLHYSLQLFEGMKAFKGKDQQVRLFRPWLNMDRMLRSAMRLCLPSFDKLELLECIRRLIEVDKDWVPDAAGTSLYVRPVLIGNEPSLGVSQPTRALLFVILCPVGAYFPGGSVTPVSLLADPAFIRAWVGGVGNYKLGGNYGPTVLVQQEALKRGCEQVLWLYGPDHQLTEVGTMNIFVYWTHEDGVLELVTPPLNGVILPGVVRQSLLDMAQTWGEFRVVERTITMKQLLRALEEGRVREVFGSGTACQVCPVHRILYKDRNLHIPTMENGPELILRFQKELKEIQVSCRELGNGLGACSLEKLVSHEPLD", "length": 405, "header": "tr|M0QZ10-1|M0QZ10_HUMAN Computationally mapped isoform of Branched-chain-amino-acid aminotransferase OS=Homo sapiens OX=9606 GN=BCAT2 PE=1 SV=1 CANONICAL=O15382-1" }, "locus": { "chromosome": "19", "start_pos": 48811007, "end_pos": 48796353, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000598162.5", "url": "https://www.ensembl.org/id/ENST00000598162.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000470216.1", "url": "https://www.ensembl.org/id/ENSP00000470216.1" } ] } }, { "isoform_ac": "M0QZP4-1", "url": "", "sequence": { "sequence": "MAAAALGQLFEGMKAFKGKDQQVRLFRPWLNMDRMLRSAMRLCLPSFDKLELLECIRRLIEVDKDWVPDAAGTSLYVRPVLIGNEPSLGVSQPTRALLFVILCPVGAYFPGGSVTPVSLLADPAFIRAWVGGVGNYKLGGNYGPTVLVQQEALKRGCEQVLWLYGPDHQLTEVGTMNIFVYWTHEDGVLELVTPPLNGVILPGVVRQSLLDMAQTWGEFRVVERTITMKQLLRALEEGRVREVFGSGTACQVCPVHRILYKDRNLHIPTMENGPELILRFQKELKEIQVSCRELGNGLGACSLEKLVSHEPLD", "length": 313, "header": "tr|M0QZP4-1|M0QZP4_HUMAN Computationally mapped isoform of Branched-chain-amino-acid aminotransferase OS=Homo sapiens OX=9606 GN=BCAT2 PE=1 SV=1 CANONICAL=O15382-1" }, "locus": { "chromosome": "19", "start_pos": 48811007, "end_pos": 48796353, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000599246.5", "url": "https://www.ensembl.org/id/ENST00000599246.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000470680.1", "url": "https://www.ensembl.org/id/ENSP00000470680.1" } ] } }, { "isoform_ac": "M0R2K7-1", "url": "", "sequence": { "sequence": "MTQKPHKKPGPGEPLVFGKTFTDHMLMVEWNDKGWGQPRIQPFQNLTLHPASSSLHYSLQLFEGMKAFKGKDQQVRLFRPWLNMDRMLRSAMRLCLPSFDKLELLECI", "length": 108, "header": "tr|M0R2K7-1|M0R2K7_HUMAN Computationally mapped isoform of branched-chain-amino-acid transaminase OS=Homo sapiens OX=9606 GN=BCAT2 PE=1 SV=8 CANONICAL=O15382-1" }, "locus": { "chromosome": "19", "start_pos": 48806696, "end_pos": 48800068, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000601681.5", "url": "https://www.ensembl.org/id/ENST00000601681.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000472641.1", "url": "https://www.ensembl.org/id/ENSP00000472641.1" } ] } }, { "isoform_ac": "O15382-1", "url": "", "sequence": { "sequence": "MAAAALGQIWARKLLSVPWLLCGPRRYASSSFKAADLQLEMTQKPHKKPGPGEPLVFGKTFTDHMLMVEWNDKGWGQPRIQPFQNLTLHPASSSLHYSLQLFEGMKAFKGKDQQVRLFRPWLNMDRMLRSAMRLCLPSFDKLELLECIRRLIEVDKDWVPDAAGTSLYVRPVLIGNEPSLGVSQPTRALLFVILCPVGAYFPGGSVTPVSLLADPAFIRAWVGGVGNYKLGGNYGPTVLVQQEALKRGCEQVLWLYGPDHQLTEVGTMNIFVYWTHEDGVLELVTPPLNGVILPGVVRQSLLDMAQTWGEFRVVERTITMKQLLRALEEGRVREVFGSGTACQVCPVHRILYKDRNLHIPTMENGPELILRFQKELKEIQYGIRAHEWMFPV", "length": 392, "header": "sp|O15382-1|BCAT2_HUMAN Isoform 1 of Branched-chain-amino-acid aminotransferase, mitochondrial OS=Homo sapiens OX=9606 GN=BCAT2 PE=1 SV=2 CANONICAL=O15382-1" }, "locus": { "chromosome": "19", "start_pos": 48811007, "end_pos": 48795429, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000316273.11", "url": "https://www.ensembl.org/id/ENST00000316273.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000322991.5", "url": "https://www.ensembl.org/id/ENSP00000322991.5" } ] } }, { "isoform_ac": "O15382-2", "url": "", "sequence": { "sequence": "MAAAALGQLFEGMKAFKGKDQQVRLFRPWLNMDRMLRSAMRLCLPSFDKLELLECIRRLIEVDKDWVPDAAGTSLYVRPVLIGNEPSLGVSQPTRALLFVILCPVGAYFPGGSVTPVSLLADPAFIRAWVGGVGNYKLGGNYGPTVLVQQEALKRGCEQVLWLYGPDHQLTEVGTMNIFVYWTHEDGVLELVTPPLNGVILPGVVRQSLLDMAQTWGEFRVVERTITMKQLLRALEEGRVREVFGSGTACQVCPVHRILYKDRNLHIPTMENGPELILRFQKELKEIQYGIRAHEWMFPV", "length": 300, "header": "sp|O15382-2|BCAT2_HUMAN Isoform 2 of Branched-chain-amino-acid aminotransferase, mitochondrial OS=Homo sapiens OX=9606 GN=BCAT2 PE=1 SV=2 CANONICAL=O15382-1" }, "locus": { "chromosome": "19", "start_pos": 48811007, "end_pos": 48795429, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545387.6", "url": "https://www.ensembl.org/id/ENST00000545387.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000440973.1", "url": "https://www.ensembl.org/id/ENSP00000440973.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 186, "end_pos": 186, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15382" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr186" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.", "journal": "Structure (London, England : 1993)", "date": "2000", "authors": "AEvarsson A, Chuang JL, Wynn RM, Turley S, Chuang DT, Hol WG", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "10745006", "url": "https://glygen.org/publication/PubMed/10745006" } ] }, { "title": "2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.", "journal": "Pediatric research", "date": "2000", "authors": "Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, Vockley J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "10832746", "url": "https://glygen.org/publication/PubMed/10832746" } ] }, { "title": "Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.", "journal": "Journal of inherited metabolic disease", "date": "2000", "authors": "Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "10947204", "url": "https://glygen.org/publication/PubMed/10947204" } ] }, { "title": "Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.", "journal": "American journal of human genetics", "date": "2000", "authors": "Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "11013134", "url": "https://glygen.org/publication/PubMed/11013134" } ] }, { "title": "Molecular cloning and characterization of placental tissue protein 18 (PP18a)/human mitochondrial branched-chain aminotransferase (BCATm) and its novel alternatively spliced PP18b variant.", "journal": "Placenta", "date": "2001", "authors": "Than N G, S\u00fcmegi B, Than G N, Bellyei S, Bohn H", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "reference": [ { "type": "PubMed", "id": "11170829", "url": "https://glygen.org/publication/PubMed/11170829" } ] }, { "title": "The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.", "journal": "The Journal of clinical investigation", "date": "2001", "authors": "Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "11181649", "url": "https://glygen.org/publication/PubMed/11181649" } ] }, { "title": "The structure of human mitochondrial branched-chain aminotransferase.", "journal": "Acta Crystallogr. D", "date": "2001", "authors": "Yennawar N, Dunbar J, Conway M, Hutson S, Farber G", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" }, { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "11264579", "url": "https://glygen.org/publication/PubMed/11264579" } ] }, { "title": "Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.", "journal": "Human molecular genetics", "date": "2001", "authors": "Holzinger A, Roschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan WL, Koch HG, Muntau AC, Roscher AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "11406611", "url": "https://glygen.org/publication/PubMed/11406611" } ] }, { "title": "Crystal structure of human AUH protein, a single-stranded RNA binding homolog of enoyl-CoA hydratase.", "journal": "Structure (London, England : 1993)", "date": "2001", "authors": "Kurimoto K, Fukai S, Nureki O, Muto Y, Yokoyama S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "11738050", "url": "https://glygen.org/publication/PubMed/11738050" } ] }, { "title": "Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Chang CF, Chou HT, Chuang JL, Chuang DT, Huang TH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "11839747", "url": "https://glygen.org/publication/PubMed/11839747" } ] }, { "title": "Crystal structures of human mitochondrial branched chain aminotransferase reaction intermediates: ketimine and pyridoxamine phosphate forms.", "journal": "Biochemistry", "date": "2002", "authors": "Yennawar NH, Conway ME, Yennawar HP, Farber GK, Hutson SM", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" }, { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "12269802", "url": "https://glygen.org/publication/PubMed/12269802" } ] }, { "title": "Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.", "journal": "Molecular genetics and metabolism", "date": "2002", "authors": "Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "12359132", "url": "https://glygen.org/publication/PubMed/12359132" } ] }, { "title": "3-Methylglutaconic aciduria type I is caused by mutations in AUH.", "journal": "American journal of human genetics", "date": "2002", "authors": "IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "12434311", "url": "https://glygen.org/publication/PubMed/12434311" } ] }, { "title": "2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.", "journal": "American journal of human genetics", "date": "2003", "authors": "Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "12696021", "url": "https://glygen.org/publication/PubMed/12696021" } ] }, { "title": "The purification and properties of beta-hydroxyisobutyric dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "1957", "authors": "ROBINSON WG, COON MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "13416257", "url": "https://glygen.org/publication/PubMed/13416257" } ] }, { "title": "Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Battaile KP, Nguyen TV, Vockley J, Kim JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "14752098", "url": "https://glygen.org/publication/PubMed/14752098" } ] }, { "title": "Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain alpha-keto acid decarboxylase/dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Li J, Wynn RM, Machius M, Chuang JL, Karthikeyan S, Tomchick DR, Chuang DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "15166214", "url": "https://glygen.org/publication/PubMed/15166214" } ] }, { "title": "CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Kedishvili NY, Popov KM, Rougraff PM, Zhao Y, Crabb DW, Harris RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "1527093", "url": "https://glygen.org/publication/PubMed/1527093" } ] }, { "title": "Crystal structure of human ABAD/HSD10 with a bound inhibitor: implications for design of Alzheimer's disease therapeutics.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Kissinger CR, Rejto PA, Pelletier LA, Thomson JA, Showalter RE, Abreo MA, Agree CS, Margosiak S, Meng JJ, Aust RM, Vanderpool D, Li B, Tempczyk-Russell A, Villafranca JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "15342248", "url": "https://glygen.org/publication/PubMed/15342248" } ] }, { "title": "Molecular mechanism for regulation of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase complex by phosphorylation.", "journal": "Structure (London, England : 1993)", "date": "2004", "authors": "Wynn RM, Kato M, Machius M, Chuang JL, Li J, Tomchick DR, Chuang DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "15576032", "url": "https://glygen.org/publication/PubMed/15576032" } ] }, { "title": "Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Brautigam CA, Chuang JL, Tomchick DR, Machius M, Chuang DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "15946682", "url": "https://glygen.org/publication/PubMed/15946682" } ] }, { "title": "Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Stadler SC, Polanetz R, Meier S, Mayerhofer PU, Herrmann JM, Anslinger K, Roscher AA, Roschinger W, Holzinger A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "16023992", "url": "https://glygen.org/publication/PubMed/16023992" } ] }, { "title": "Structural determinants for branched-chain aminotransferase isozyme-specific inhibition by the anticonvulsant drug gabapentin.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Goto M, Miyahara I, Hirotsu K, Conway M, Yennawar N, Islam MM, Hutson SM", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" }, { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "16141215", "url": "https://glygen.org/publication/PubMed/16141215" } ] }, { "title": "Human mitochondrial branched chain aminotransferase isozyme: structural role of the CXXC center in catalysis.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Yennawar NH, Islam MM, Conway M, Wallin R, Hutson SM", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "reference": [ { "type": "PubMed", "id": "17050531", "url": "https://glygen.org/publication/PubMed/17050531" } ] }, { "title": "Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function.", "journal": "Biochemistry", "date": "2007", "authors": "Haapalainen AM, Merilainen G, Pirila PL, Kondo N, Fukao T, Wierenga RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "17371050", "url": "https://glygen.org/publication/PubMed/17371050" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O15382-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15382-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Structure-function relationships in dihydrolipoamide acyltransferases.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Reed LJ, Hackert ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "2188967", "url": "https://glygen.org/publication/PubMed/2188967" } ] }, { "title": "Structural and biochemical characterization of human mitochondrial branched-chain alpha-ketoacid dehydrogenase phosphatase.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Wynn RM, Li J, Brautigam CA, Chuang JL, Chuang DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "22291014", "url": "https://glygen.org/publication/PubMed/22291014" } ] }, { "title": "Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.", "journal": "Science (New York, N.Y.)", "date": "2012", "authors": "Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "22956686", "url": "https://glygen.org/publication/PubMed/22956686" } ] }, { "title": "Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.", "journal": "Human mutation", "date": "2014", "authors": "Garcia-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejon E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacin M, Rodriguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjos M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agullo SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "24449431", "url": "https://glygen.org/publication/PubMed/24449431" } ] }, { "title": "Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.", "journal": "Journal of inherited metabolic disease", "date": "2015", "authors": "Wang XL, Li CJ, Xing Y, Yang YH, Jia JP", "evidence": [ { 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Molecular basis of disease", "date": "2024-02", "authors": "Kang Zi-Ran, Jiang Shanshan, Han Ji-Xuan, Gao Yaqi, Xie Yile, Chen Jinxian, Liu Qiang, Yu Jun, Zhao Xin, Hong Jie, Chen Haoyan, Chen Ying-Xuan, Chen Huimin, Fang Jing-Yuan", "evidence": [ { "database": "RefSeq", "id": "NP_001158245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158245" } ], "reference": [ { "type": "PubMed", "id": "37926361", "url": "https://glygen.org/publication/PubMed/37926361" } ] }, { "title": "Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1980", "authors": "Rhead WJ, Tanaka K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "6928646", "url": "https://glygen.org/publication/PubMed/6928646" } ] }, { "title": "Subcellular localization of 3-methylcrotonyl-coenzyme A carboxylase in bovine kidney.", "journal": "Archives of biochemistry and biophysics", "date": "1980", "authors": "Hector ML, Cochran BC, Logue EA, Fall RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "7356336", "url": "https://glygen.org/publication/PubMed/7356336" } ] }, { "title": "Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N-terminal proline in the rat sequence.", "journal": "Biochimica et biophysica acta", "date": "1994", "authors": "Wynn RM, Kochi H, Cox RP, Chuang DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "7918575", "url": "https://glygen.org/publication/PubMed/7918575" } ] }, { "title": "Two yeast homologs of ECA39, a target for c-Myc regulation, code for cytosolic and mitochondrial branched-chain amino acid aminotransferases.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Eden A, Simchen G, Benvenisty N", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "reference": [ { "type": "PubMed", "id": "8702755", "url": "https://glygen.org/publication/PubMed/8702755" } ] }, { "title": "Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Hawes JW, Jaskiewicz J, Shimomura Y, Huang B, Bunting J, Harper ET, Harris RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "8824301", "url": "https://glygen.org/publication/PubMed/8824301" } ] }, { "title": "Cloning of the rat and human mitochondrial branched chain aminotransferases (BCATm).", "journal": "Biochim. Biophys. Acta", "date": "1997", "authors": "Bledsoe RK, Dawson PA, Hutson SM", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" }, { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "9165094", "url": "https://glygen.org/publication/PubMed/9165094" } ] }, { "title": "Structure of human isovaleryl-CoA dehydrogenase at 2.6 A resolution: structural basis for substrate specificity,.", "journal": "Biochemistry", "date": "1997", "authors": "Tiffany KA, Roberts DL, Wang M, Paschke R, Mohsen AW, Vockley J, Kim JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "9214289", "url": "https://glygen.org/publication/PubMed/9214289" } ] }, { "title": "Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.", "journal": "Molecular genetics and metabolism", "date": "1998", "authors": "Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "9889013", "url": "https://glygen.org/publication/PubMed/9889013" } ] } ], "pathway": [ { "id": "hsa:587", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:587", "resource": "KEGG Pathway" }, { "id": "R-HSA-70895", "name": "Branched-chain amino acid catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895", "resource": "Reactome", "description": "Branched-chain amino acid catabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "O35854-1", "protein_name": "Branched-chain-amino-acid aminotransferase, mitochondrial", "gene_name": "Bcat2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006550", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "pmid": "" }, { "name": "leucine biosynthetic process", "id": "GO:0009098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009098", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "pmid": "" }, { "name": "valine biosynthetic process", "id": "GO:0009099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009099", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "pmid": "" }, { "name": "regulation of hormone levels", "id": "GO:0010817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010817", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "branched-chain-amino-acid transaminase activity", "id": "GO:0004084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004084", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "pmid": "" }, { "name": "L-leucine transaminase activity", "id": "GO:0052654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052654", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "pmid": "" }, { "name": "L-valine transaminase activity", "id": "GO:0052655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052655", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "pmid": "" }, { "name": "L-isoleucine transaminase activity", "id": "GO:0052656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052656", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "pmid": "" }, { "name": "L-leucine:2-oxoglutarate aminotransferase activity", "id": "GO:0050048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050048", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O15382", "url": "https://www.uniprot.org/uniprot/O15382" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 85, "end_pos": 87, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "18321", "name": "", "equation": "2-oxoglutarate + L-leucine = 4-methyl-2-oxopentanoate + L-glutamate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O35854-1", "P54690-1", "P54687-1", "O15382-1", "O35855-1", "P24288-1", "P38891-1", "P47176-1", "Q54N47-1", "Q9VYD5-1" ], "evidence": [ { "id": "18321", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/18321" } ] }, { "id": "24801", "name": "", "equation": "2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O35854-1", "P54690-1", "P54687-1", "O15382-1", "O35855-1", "P24288-1", "P38891-1", "P47176-1", "Q54N47-1", "Q9VYD5-1" ], "evidence": [ { "id": "24801", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/24801" } ] }, { "id": "24813", "name": "", "equation": "2-oxoglutarate + L-valine = 3-methyl-2-oxobutanoate + L-glutamate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O35854-1", "P54690-1", "P54687-1", "O15382-1", "O35855-1", "P24288-1", "P38891-1", "P47176-1", "Q54N47-1", "Q9VYD5-1" ], "evidence": [ { "id": "24813", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/24813" } ] }, { "id": "R-HSA-508179", "name": "a-ketoisocaproate, a-keto-b-methylvalerate, or a-ketoisovalerate + glutamate <=> leu, ile, or val + alpha-ketoglutarate [BCAT2]", "equation": "", "summary": "Mitochondrial branched-chain-amino-acid aminotransferase (BCAT2) catalyzes the reversible reactions of alpha-ketoisocaproate, alpha-keto-beta-methylvalerate, or a-ketoisovalerate with glutamate to form leucine, isoleucine, or valine, respectively, and alpha-ketoglutarate (Bledsoe et al. 1997). The active enzyme is a homodimer (Yennawar et al. 2001, 2002). In the body, this enzyme is widely expressed but is especially abundant in muscle tissue.", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15382-1" ], "evidence": [ { "id": "R-HSA-508179", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-508179" } ] }, { "id": "R-HSA-70724", "name": "leu, ile, or val + alpha-ketoglutarate <=> a-ketoisocaproate, a-keto-b-methylvalerate, or a-ketoisovalerate + glutamate [BCAT2]", "equation": "", "summary": "Mitochondrial branched-chain-amino-acid aminotransferase (BCAT2) catalyzes the reversible reactions of leucine, isoleucine, or valine with alpha-ketoglutarate (2-oxoglutarate) to form alpha-ketoisocaproate, alpha-keto-beta-methylvalerate, or a-ketoisovalerate, respectively, and glutamate (Bledsoe et al. 1997). The active enzyme is a homodimer (Yennawar et al. 2001, 2002). In the body, this enzyme is widely expressed but is especially abundant in muscle tissue.", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15382-1" ], "evidence": [ { "id": "R-HSA-70724", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70724" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O15382", "gene_name": "BCAT2", "activity": [ { "ec_number": "2.6.1.42", "activity": "2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate.", "evidence": [ { "id": "O15382", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15382" } ] }, { "ec_number": "2.6.1.42", "activity": "", "evidence": [ { "id": "O15382", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15382" } ] } ] }, { "uniprot_ac": "O35854", "gene_name": "Bcat2", "activity": [ { "ec_number": "2.6.1.42", "activity": "2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate.", "evidence": [ { "id": "O35854", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35854" } ] }, { "ec_number": "2.6.1.42", "activity": "", "evidence": [ { "id": "O35854", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35854" } ] } ] }, { "uniprot_ac": "O35855", "gene_name": "Bcat2", "activity": [ { "ec_number": "2.6.1.42", "activity": "2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate.", "evidence": [ { "id": "O35855", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35855" } ] }, { "ec_number": "2.6.1.42", "activity": "", "evidence": [ { "id": "O35855", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35855" } ] } ] }, { "uniprot_ac": "P24288", "gene_name": "Bcat1", "activity": [ { "ec_number": "2.6.1.42", "activity": "2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate.", "evidence": [ { "id": "P24288", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24288" } ] }, { "ec_number": "2.6.1.42", "activity": "", "evidence": [ { "id": "P24288", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24288" } ] } ] }, { "uniprot_ac": "P38891", "gene_name": "BAT1", "activity": [ { "ec_number": "2.6.1.42", "activity": "2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate.", "evidence": [ { "id": "P38891", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38891" } ] }, { "ec_number": "2.6.1.42", "activity": "", "evidence": [ { "id": "P38891", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38891" } ] } ] }, { "uniprot_ac": "P47176", "gene_name": "BAT2", "activity": [ { "ec_number": "2.6.1.42", "activity": "2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate.", "evidence": [ { "id": "P47176", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47176" } ] }, { "ec_number": "2.6.1.42", "activity": "", "evidence": [ { "id": "P47176", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47176" } ] } ] }, { "uniprot_ac": "P54687", "gene_name": "BCAT1", "activity": [ { "ec_number": "2.6.1.42", "activity": "2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate.", "evidence": [ { "id": "P54687", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54687" } ] }, { "ec_number": "2.6.1.42", "activity": "", "evidence": [ { "id": "P54687", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54687" } ] } ] }, { "uniprot_ac": "P54690", "gene_name": "Bcat1", "activity": [ { "ec_number": "2.6.1.42", "activity": "2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate.", "evidence": [ { "id": "P54690", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54690" } ] }, { "ec_number": "2.6.1.42", "activity": "", "evidence": [ { "id": "P54690", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54690" } ] } ] }, { "uniprot_ac": "Q54N47", "gene_name": "bcaA", "activity": [ { "ec_number": "2.6.1.42", "activity": "2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate.", "evidence": [ { "id": "Q54N47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54N47" } ] }, { "ec_number": "2.6.1.42", "activity": "", "evidence": [ { "id": "Q54N47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54N47" } ] } ] }, { "uniprot_ac": "Q9VYD5", "gene_name": "Bcat", "activity": [ { "ec_number": "2.6.1.42", "activity": "2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate.", "evidence": [ { "id": "Q9VYD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VYD5" } ] }, { "ec_number": "2.6.1.42", "activity": "", "evidence": [ { "id": "Q9VYD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VYD5" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 153 ], "glycation_sites": [], "phosphorylation_sites": [ 186 ], "sequon_annotation_sites": [ { "start_pos": 85, "end_pos": 87 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": 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}, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", 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