{ "uniprot_canonical_ac": "P12694-1", "uniprot_ac": "P12694", "uniprot_id": "ODBA_HUMAN", "mass": { "chemical_mass": 50471.0, "monoisotopic_mass": 50471.0 }, "refseq": { "ac": "NP_000700", "name": "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1 precursor", "summary": "The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. 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_000700" }, "gene_names": [ { "name": "BCKDHA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12694", "id": "P12694" }, { "name": "BCKDE1A; MSU; MSUD1; MSUD1A; OVD1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000700", "id": "NP_000700" }, { "name": "BCKDHA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000700", "id": "NP_000700" } ], "protein_names": [ { "name": "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12694" }, { "name": "1.2.4.4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12694" }, { "name": "2-oxoisovalerate dehydrogenase (lipoamide); 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; branched-chain alpha-keto acid dehydrogenase E1 component alpha chain; BCKDH E1-alpha; branched chain keto acid dehydrogenase E1 alpha protein; branched chain keto acid dehydrogenase E1, alpha polypeptide", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000700", "id": "NP_000700" }, { "name": "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000700", "id": "NP_000700" }, { "name": "BCKDE1A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12694" }, { "name": "BCKDH E1-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12694" }, { "name": "Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12694" } ], "function": [ { "annotation": "Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults.", "evidence": [ { "database": "RefSeq", "id": "NP_000700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000700" }, { "database": "PubMed", "id": "34511290", "url": "https://glygen.org/publication/PubMed/34511290" } ] }, { "annotation": "Data suggest that the following genetic modifications are involved in patients with maple syrup urine disease in Iran: (1) mutation in BCKDHA (branched chain keto acid dehydrogenase E1 alpha); (2) mutation in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta); (3) mutation in DBT (dihydrolipoamide branched chain transacylase E2; one patient).", "evidence": [ { "database": "RefSeq", "id": "NP_000700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000700" }, { "database": "PubMed", "id": "29306928", "url": "https://glygen.org/publication/PubMed/29306928" } ] }, { "annotation": "Pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease", "evidence": [ { "database": "RefSeq", "id": "NP_000700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000700" }, { "database": "PubMed", "id": "29673582", "url": "https://glygen.org/publication/PubMed/29673582" } ] }, { "annotation": "Six different novel genetic variants were validated in BCKDHB gene and BCKDHA gene, including c.523 T > C, c.659delA, c.550delT, c.863G > A and two gross deletions", "evidence": [ { "database": "RefSeq", "id": "NP_000700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000700" }, { "database": "PubMed", "id": "29307017", "url": "https://glygen.org/publication/PubMed/29307017" } ] }, { "annotation": "The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_000700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000700" } ] }, { "annotation": "Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000700" }, { "database": "PubMed", "id": "34883003", "url": "https://glygen.org/publication/PubMed/34883003" } ] }, { "annotation": "Together with BCKDHB forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. The BCKD complex catalyzes the multi-step oxidative decarboxylation of alpha-ketoacids derived from the branched-chain amino-acids valine, leucine and isoleucine producing CO2 and acyl-CoA which is subsequently utilized to produce energy. The E1 subunit catalyzes the first step with the decarboxylation of the alpha-ketoacid forming an enzyme-product intermediate. A reductive acylation mediated by the lipoylamide cofactor of E2 extracts the acyl group from the E1 active site for the next step of the reaction.", "evidence": [ { "database": "UniProtKB", "id": "H0YH31", "url": "https://www.uniprot.org/uniprot/H0YH31#function" }, { "database": "UniProtKB", "id": "RU365014", "url": "https://www.uniprot.org/uniprot/RU365014#function" }, { "database": "UniProtKB", "id": "ARBA00037052", "url": "https://www.uniprot.org/uniprot/ARBA00037052#function" }, { "database": "UniProtKB", "id": "P12694", "url": "https://www.uniprot.org/uniprot/P12694#function" }, { "database": "PubMed", "id": "10745006", "url": "https://glygen.org/publication/PubMed/10745006" }, { "database": "PubMed", "id": "7883996", "url": "https://glygen.org/publication/PubMed/7883996" }, { "database": "PubMed", "id": "9582350", "url": "https://glygen.org/publication/PubMed/9582350" }, { "database": "UniProtKB", "id": "F5GXU9", "url": "https://www.uniprot.org/uniprot/F5GXU9#function" } ] } ], "disease": [ { "disease_id": "DOID:9269", "recommended_name": { "id": "DOID:9269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9269", "name": "maple syrup urine disease", "description": "An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures." }, "synonyms": [ { "id": "DOID:9269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9269", "name": "Ketoacidaemia", "description": "" }, { "id": "DOID:9269", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9269", "name": "branched chain ketoaciduria", "description": "" }, { "id": "MONDO:0009529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009529", "name": "pyruvate dehydrogenase E3 deficiency", "description": "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." }, { "id": "MONDO:0009529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009529", "name": "DLD deficiency", "description": "" }, { "id": "MONDO:0009529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009529", "name": "E3-deficient maple syrup urine disease", "description": "" }, { "id": "MONDO:0009529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009529", "name": "dihydrolipoamide dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0009529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009529", "name": "pyruvate dehydrogenase E3 deficiency", "description": "" }, { "id": "MONDO:0009529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009529", "name": "DLDD", "description": "" }, { "id": "MONDO:0009529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009529", "name": "Dld deficiency", "description": "" }, { "id": "MONDO:0009529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009529", "name": "E3 deficiency", "description": "" }, { "id": "MONDO:0009529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009529", "name": "lipoamide dehydrogenase deficiency, lactic acidosis due to", "description": "" }, { "id": "MONDO:0009529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009529", "name": "maple syrup urine disease, type 3", "description": "" }, { "id": "MONDO:0009529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009529", "name": "maple syrup urine disease, type III", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "maple syrup urine disease", "description": "An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death." }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "BCKD deficiency", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "BCKDH deficiency", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "Ketoacidaemia", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "MSUD", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "branched chain ketoaciduria", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "branched-chain 2-ketoacid dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "branched-chain ketoaciduria", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "maple syrup urine disease", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "maple syrup urine disease, type IA", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "maple syrup urine disease, type IB", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "maple syrup urine disease, type II", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "maple syrup urine disease, type 1A", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "maple syrup urine disease, type 1B", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "maple syrup urine disease, type 2", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "Keto acid decarboxylase deficiency", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "branched-chain Alpha-Keto acid dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "dihydrolipoamide dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "maple syrup urine disease, Intermediate", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "maple syrup urine disease, classic", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "maple syrup urine disease, intermittent", "description": "" }, { "id": "MONDO:0009563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009563", "name": "maple syrup urine disease, thiamine-responsive", "description": "" }, { "id": "MONDO:0014057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014057", "name": "maple syrup urine disease, mild variant", "description": "" }, { "id": "MONDO:0014057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014057", "name": "maple syrup urine disease, mild variant", "description": "" }, { "id": "MONDO:0014057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014057", "name": "MSUDMV", "description": "" }, { "id": "MIM:246900", "resource": "MIM", "url": "https://www.omim.org/entry/246900", "name": "Dihydrolipoamide dehydrogenase deficiency", "description": "Dihydrolipoamide dehydrogenase deficiency" }, { "id": "MIM:248600", "resource": "MIM", "url": "https://www.omim.org/entry/248600", "name": "Maple syrup urine disease 2", "description": "Maple syrup urine disease 2" }, { "id": "MIM:615135", "resource": "MIM", "url": "https://www.omim.org/entry/615135", "name": "Maple syrup urine disease, mild variant", "description": "Maple syrup urine disease, mild variant" } ], "evidence": [ { "id": "248600", "database": "MIM", "url": "https://www.omim.org/entry/248600" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 337, "end_pos": 337, "sequence_org": "S", "sequence_mut": "A", "comment": "Substantially decreases the stability of the BCKD complex.", "evidence": [ { "database": "UniProtKB", "id": "P12694", "url": "https://www.uniprot.org/uniprot/P12694" }, { "database": "PubMed", "id": "19411760", "url": "https://glygen.org/publication/PubMed/19411760" } ] }, { "start_pos": 347, "end_pos": 347, "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect the stability of the BCKD complex.", "evidence": [ { "database": "UniProtKB", "id": "P12694", "url": "https://www.uniprot.org/uniprot/P12694" }, { "database": "PubMed", "id": "19411760", "url": "https://glygen.org/publication/PubMed/19411760" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "92.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000248098", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000248098" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000248098", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000248098" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000248098", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000248098" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000248098", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000248098" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000248098", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000248098" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000248098", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000248098" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000248098", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000248098" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000248098", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000248098" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000248098", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000248098" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12694", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12694" } ], "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 developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "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": "HPC7", "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": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12694", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12694" } ], "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": "P12694", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12694" } ], "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 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mapped isoform of 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial OS=Homo sapiens OX=9606 GN=BCKDHA PE=1 SV=1 CANONICAL=P12694-1" }, "locus": { "chromosome": "19", "start_pos": 41422249, "end_pos": 41410722, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541315.1", "url": "https://www.ensembl.org/id/ENST00000541315.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000445809.1", "url": "https://www.ensembl.org/id/ENSP00000445809.1" } ] } }, { "isoform_ac": "P12694-1", "url": "", "sequence": { "sequence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P12694", "url": "https://www.uniprot.org/uniprot/P12694" } ], "pmid": "" }, { "name": "mitochondrial alpha-ketoglutarate dehydrogenase complex", "id": "GO:0005947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005947", "evidence": [ { "database": "UniProtKB", "id": "P12694", "url": "https://www.uniprot.org/uniprot/P12694" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P12694", "url": "https://www.uniprot.org/uniprot/P12694" } ], "pmid": "" }, { "name": "3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity", "id": "GO:0003863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003863", "evidence": [ { "database": "UniProtKB", "id": "P12694", "url": "https://www.uniprot.org/uniprot/P12694" } ], "pmid": "" }, { "name": "carboxy-lyase activity", "id": "GO:0016831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016831", "evidence": [ { "database": "UniProtKB", "id": "P12694", "url": "https://www.uniprot.org/uniprot/P12694" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "branched-chain amino acid catabolic process", "id": "GO:0009083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009083", "evidence": [ { "database": "UniProtKB", "id": "P12694", "url": "https://www.uniprot.org/uniprot/P12694" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 181, "end_pos": 183, "annotation": "n_glycosylation_sequon" }, { "start_pos": 308, "end_pos": 310, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated at Ser-337 by BCKDK and dephosphorylated by protein phosphatase PPM1K.", "evidence": [ { "database": "UniProtKB", "id": "P12694", "url": "https://www.uniprot.org/uniprot/P12694" }, { "database": "PubMed", "id": "19411760", "url": "https://glygen.org/publication/PubMed/19411760" }, { "database": "PubMed", "id": "22589535", "url": "https://glygen.org/publication/PubMed/22589535" } ] } ], "interactions": [], "reactions": [ { "id": "13457", "name": "", "equation": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11960-1", "P35738-1", "P12694-1", "P21953-1", "Q6P3A8-1", "P50136-1", "Q54M22-1", "Q55FN7-1", "Q9VHB8-1", "Q7PLE6-1" ], "evidence": [ { "id": "13457", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/13457" } ] }, { "id": "R-HSA-5693148", "name": "BCKDK phosphorylates BCKDH", "equation": "", "summary": "Mitochondrial 3-methyl-2-oxobutanoate dehydrogenase (lipoamide) kinase (BCKDK) catalyses the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways (Li et al. 2004, Wynn et al. 2004). BCKDH occupies a strategic point in the branched-chain amino acid (BCAA) catabolic pathway, and careful regulation of its activity is essential for correct BCAA metabolism. The overall activity of the BCKDH complex is controlled by the phosphorylation (inactivation)/dephosphorylation (activation) cycle.
Defects in BCKDK can cause branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD; MIM:614923), a metabolic disorder characterised by autism, epilepsy, intellectual disability, and reduced BCAAs (Novarino et al. 2012, Garcia-Cazorla et al. 2014).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-HSA-70019" ], "output_participant_list": [], "enzyme_list": [ "P11182-1", "P09622-1", "O14874-1", "P12694-1", "P21953-1" ], "evidence": [ { "id": "R-HSA-5693148", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693148" } ] }, { "id": "R-HSA-5693153", "name": "PPM1K dephosphorylates p-BCKDH", "equation": "", "summary": "The branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex occupies a strategic point in the branched-chain amino acid (BCAA) catabolic pathway, and careful regulation of its activity is essential for correct BCAA metabolism. The overall activity of the BCKDH complex is controlled by the phosphorylation (inactivation)/dephosphorylation (activation) cycle. Mitochondrial protein phosphatase 1K (PPM1K) dephosphorylates the E1 beta subunit of BCKDH therby regaining its active state. PPM1K requires Mn2+ as a cofactor for phosphatase activity (Wynn et al. 2012).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-HSA-5693120" ], "output_participant_list": [], "enzyme_list": [ "P11182-1", "P09622-1", "Q8N3J5-1", "P12694-1", "P21953-1" ], "evidence": [ { "id": "R-HSA-5693153", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693153" } ] }, { "id": "R-HSA-6792572", "name": "LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs", "equation": "", "summary": "Lipoate is an essential cofactor for two enzymes from energy metabolism (alpha-ketoglutarate dehydrogenase and pyruvate dehydrogenase) and three from amino acid metabolism (branched-chain ketoacid dehydrogenase, 2-oxoadipate dehydrogenase, and the glycine cleavage system). Lipoate synthesis in mitochondria requires three steps. In the third step, mitochondrial lipoyltransferase 1 (LIPT1) catalyses the transfer of a lipoyl group from lipoyl-K107-GCSH to lysine residue(s) of lipoate-dependent enzymes (Fujiwara et al. 1999). Defects in LIPT1 reduce lipoylation of pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase, causing a cofactor disorder of mitochondrial energy metabolism (Soreze et al. 2013, Tort et al. 2014).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P36957-1", "Q02218-1", "P10515-1", "P29803-1", "P11182-1", "P09622-1", "Q96HY7-1", "P08559-1", "P11177-1", "P12694-1", "P21953-1", "Q9Y234-1" ], "evidence": [ { "id": "R-HSA-6792572", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6792572" } ] }, { "id": "R-HSA-70713", "name": "BCKDH transfers CoA group from CoA-SH to BCAAs", "equation": "", "summary": "The mitochondrial branched-chain alpha-ketoacid dehydrogenase (BKCDH) complex catalyzes the reactions of alpha-ketoisocaproate, alpha-keto beta-methylvalerate, or alpha-ketoisovalerate with CoA and NAD+ to form isovaleryl-CoA, a-methylbutyryl-CoA, or isobutyryl-CoA, respectively, and CO2 and NADH (Chuang and Shih 2001). While bovine and microbial BCKD complexes have been characterized most extensively (Reed and Hackert 1990), structural studies of individual components and subcomplexes of human BKCD have confirmed their structures and roles in the overall oxidative carboxylation process, and have related these features to the disruptive effects of mutations on branched-chain amino acid metabolism in vivo: E1a and E1b components - AEvarsson et al. 2000; E2 - Chang et al. 2002; E3- Brautigam et al. 2005. In addition, structural studies have confirmed the lipoylation of lysine residue 44 in E2 protein (Chang et al. 2002) and the loss of an aminoterminal mitochondrial transport sequence from mature E3 protein (Bruatigam et al. 2005). Loss of mitochondrial transport sequences from proteins E1a, E1b, and E2 has been domstrated by sequence analysis (Wynn et al. 1999).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11182-1", "P09622-1", "P12694-1", "P21953-1" ], "evidence": [ { "id": "R-HSA-70713", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70713" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-5693120", "participant_name": "p-BCKDH [mitochondrial matrix]", "crossref": [ { "id": "CPX-2216", "database": "ComplexPortal", "url": "" } ] }, { "participant_id": "R-HSA-70019", "participant_name": "lipo-BCKDH [mitochondrial matrix]", "crossref": [ { "id": "CPX-2216", "database": "ComplexPortal", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O14874", "gene_name": "BCKDK", "activity": [ { "ec_number": "2.7.11.-", "activity": "", "evidence": [ { "id": "O14874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14874" } ] }, { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "O14874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14874" } ] }, { "ec_number": "2.7.11.4", "activity": "ATP + L-seryl-[3-methyl-2-oxobutanoate dehydrogenase] = ADP + H(+) + O-phospho-L-seryl-[3-methyl-2-oxobutanoate dehydrogenase].", "evidence": [ { "id": "O14874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14874" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "O14874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14874" } ] } ] }, { "uniprot_ac": "P08559", "gene_name": "PDHA1", "activity": [ { "ec_number": "1.2.4.1", "activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].", "evidence": [ { "id": "P08559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08559" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P08559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08559" } ] } ] }, { "uniprot_ac": "P09622", "gene_name": "DLD", "activity": [ { "ec_number": "1.8.1.4", "activity": "N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] + NAD(+) = H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[protein] + NADH.", "evidence": [ { "id": "P09622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09622" } ] }, { "ec_number": "1.8.1.4", "activity": "", "evidence": [ { "id": "P09622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09622" } ] } ] }, { "uniprot_ac": "P10515", "gene_name": "DLAT", "activity": [ { "ec_number": "2.3.1.12", "activity": "acetyl-CoA + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] = CoA + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[protein].", "evidence": [ { "id": "P10515", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10515" } ] }, { "ec_number": "2.3.1.12", "activity": "", "evidence": [ { "id": "P10515", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10515" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P10515", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10515" } ] } ] }, { "uniprot_ac": "P11177", "gene_name": "PDHB", "activity": [ { "ec_number": "1.2.4.1", "activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].", "evidence": [ { "id": "P11177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11177" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P11177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11177" } ] } ] }, { "uniprot_ac": "P11182", "gene_name": "DBT", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P11182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11182" } ] }, { "ec_number": "2.3.1.168", "activity": "2-methylpropanoyl-CoA + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] = CoA + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[protein].", "evidence": [ { "id": "P11182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11182" } ] }, { "ec_number": "2.3.1.168", "activity": "", "evidence": [ { "id": "P11182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11182" } ] } ] }, { "uniprot_ac": "P11960", "gene_name": "Bckdha", "activity": [ { "ec_number": "1.2.4.4", "activity": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase].", "evidence": [ { "id": "P11960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11960" } ] }, { "ec_number": "1.2.4.4", "activity": "", "evidence": [ { "id": "P11960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11960" } ] } ] }, { "uniprot_ac": "P12694", "gene_name": "BCKDHA", "activity": [ { "ec_number": "1.2.4.4", "activity": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase].", "evidence": [ { "id": "P12694", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12694" } ] }, { "ec_number": "1.2.4.4", "activity": "", "evidence": [ { "id": "P12694", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12694" } ] } ] }, { "uniprot_ac": "P21953", "gene_name": "BCKDHB", "activity": [ { "ec_number": "1.2.4.4", "activity": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase].", "evidence": [ { "id": "P21953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21953" } ] }, { "ec_number": "1.2.4.4", "activity": "", "evidence": [ { "id": "P21953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21953" } ] } ] }, { "uniprot_ac": "P29803", "gene_name": "PDHA2", "activity": [ { "ec_number": "1.2.4.1", "activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].", "evidence": [ { "id": "P29803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29803" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P29803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29803" } ] } ] }, { "uniprot_ac": "P35738", "gene_name": "Bckdhb", "activity": [ { "ec_number": "1.2.4.4", "activity": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase].", "evidence": [ { "id": "P35738", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35738" } ] }, { "ec_number": "1.2.4.4", "activity": "", "evidence": [ { "id": "P35738", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35738" } ] } ] }, { "uniprot_ac": "P36957", "gene_name": "DLST", "activity": [ { "ec_number": "2.3.1.61", "activity": "N(6)-[(R)-dihydrolipoyl]-L-lysyl-[2-oxoglutarate dehydrogenase complex component E2] + succinyl-CoA = CoA + N(6)-[(R)-S(8)-succinyldihydrolipoyl]-L-lysyl-[2-oxoglutarate dehydrogenase complex component E2].", "evidence": [ { "id": "P36957", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36957" } ] }, { "ec_number": "2.3.1.61", "activity": "", "evidence": [ { "id": "P36957", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36957" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P36957", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36957" } ] } ] }, { "uniprot_ac": "P50136", "gene_name": "Bckdha", "activity": [ { "ec_number": "1.2.4.4", "activity": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase].", "evidence": [ { "id": "P50136", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50136" } ] }, { "ec_number": "1.2.4.4", "activity": "", "evidence": [ { "id": "P50136", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50136" } ] } ] }, { "uniprot_ac": "Q02218", "gene_name": "OGDH", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue succinyltransferase] = CO2 + N(6)-[(R)-S(8)-succinyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue succinyltransferase].", "evidence": [ { "id": "Q02218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02218" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "Q02218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02218" } ] } ] }, { "uniprot_ac": "Q54M22", "gene_name": "bkdA", "activity": [ { "ec_number": "1.2.4.4", "activity": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase].", "evidence": [ { "id": "Q54M22", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54M22" } ] }, { "ec_number": "1.2.4.4", "activity": "", "evidence": [ { "id": "Q54M22", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54M22" } ] } ] }, { "uniprot_ac": "Q55FN7", "gene_name": "bkdB", "activity": [ { "ec_number": "1.2.4.4", "activity": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase].", "evidence": [ { "id": "Q55FN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55FN7" } ] }, { "ec_number": "1.2.4.4", "activity": "", "evidence": [ { "id": "Q55FN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55FN7" } ] } ] }, { "uniprot_ac": "Q6P3A8", "gene_name": "Bckdhb", "activity": [ { "ec_number": "1.2.4.4", "activity": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase].", "evidence": [ { "id": "Q6P3A8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P3A8" } ] }, { "ec_number": "1.2.4.4", "activity": "", "evidence": [ { "id": "Q6P3A8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P3A8" } ] } ] }, { "uniprot_ac": "Q7PLE6", "gene_name": "BckdhB", "activity": [ { "ec_number": "1.2.4.4", "activity": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase].", "evidence": [ { "id": "Q7PLE6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7PLE6" } ] }, { "ec_number": "1.2.4.4", "activity": "", "evidence": [ { "id": "Q7PLE6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7PLE6" } ] } ] }, { "uniprot_ac": "Q8N3J5", "gene_name": "PPM1K", "activity": [ { "ec_number": "3.1.3.16", "activity": "H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate.", "evidence": [ { "id": "Q8N3J5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N3J5" } ] }, { "ec_number": "3.1.3.52", "activity": "H2O + O-phospho-L-seryl-[3-methyl-2-oxobutanoate dehydrogenase] = L-seryl-[3-methyl-2-oxobutanoate dehydrogenase] + phosphate.", "evidence": [ { "id": "Q8N3J5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N3J5" } ] }, { "ec_number": "3.1.3.16", "activity": "", "evidence": [ { "id": "Q8N3J5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N3J5" } ] } ] }, { "uniprot_ac": "Q96HY7", "gene_name": "DHTKD1", "activity": [ { "ec_number": "1.2.4.-", "activity": "", "evidence": [ { "id": "Q96HY7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96HY7" } ] } ] }, { "uniprot_ac": "Q9VHB8", "gene_name": "BckdhA", "activity": [ { "ec_number": "1.2.4.4", "activity": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase].", "evidence": [ { "id": "Q9VHB8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VHB8" } ] }, { "ec_number": "1.2.4.4", "activity": "", "evidence": [ { "id": "Q9VHB8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VHB8" } ] } ] }, { "uniprot_ac": "Q9Y234", "gene_name": "LIPT1", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q9Y234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y234" } ] }, { "ec_number": "2.3.1.200", "activity": "L-lysyl-[lipoyl-carrier protein] + N(6)-[(R)-lipoyl]-L-lysyl-[glycine-cleavage complex H protein] = L-lysyl-[glycine-cleavage complex H protein] + N(6)-[(R)-lipoyl]-L-lysyl-[lipoyl-carrier protein].", "evidence": [ { "id": "Q9Y234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y234" } ] }, { "ec_number": "2.3.1.200", "activity": "", "evidence": [ { "id": "Q9Y234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y234" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 295, 337, 338, 339, 342, 345, 347, 353 ], "sequon_annotation_sites": [ { "start_pos": 181, "end_pos": 183 }, { "start_pos": 308, "end_pos": 310 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", 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