{ "uniprot_canonical_ac": "P08559-1", "uniprot_ac": "P08559", "uniprot_id": "ODPA_HUMAN", "mass": { "chemical_mass": 43296.0, "monoisotopic_mass": 43296.0 }, "refseq": { "ac": "NP_000275", "name": "pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 1 precursor", "summary": "The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000275" }, "gene_names": [ { "name": "PDHA1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08559", "id": "P08559" }, { "name": "E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000275", "id": "NP_000275" }, { "name": "PDHA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000275", "id": "NP_000275" }, { "name": "PHE1A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08559", "id": "P08559" } ], "protein_names": [ { "name": "Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08559" }, { "name": "1.2.4.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08559" }, { "name": "PDHE1-A type I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08559" }, { "name": "pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000275", "id": "NP_000275" }, { "name": "pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; PDHE1-A type I; pyruvate dehydrogenase alpha 1; pyruvate dehydrogenase (lipoamide) alpha 1; pyruvate dehydrogenase complex, E1-alpha polypeptide 1; pyruvate dehydrogenase E1 alpha 1 subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000275", "id": "NP_000275" } ], "function": [ { "annotation": "MAPK signalling-induced phosphorylation and subcellular translocation of PDHE1alpha promotes tumour immune evasion.", "evidence": [ { "database": "RefSeq", "id": "NP_000275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000275" }, { "database": "PubMed", "id": "35315437", "url": "https://glygen.org/publication/PubMed/35315437" } ] }, { "annotation": "PDHA1 hyperacetylation-mediated lactate overproduction promotes sepsis-induced acute kidney injury via Fis1 lactylation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000275" }, { "database": "PubMed", "id": "37479690", "url": "https://glygen.org/publication/PubMed/37479690" } ] }, { "annotation": "T Cells Mediate Kidney Tubular Injury via Impaired PDHA1 and Autophagy in Type 1 Diabetes.", "evidence": [ { "database": "RefSeq", "id": "NP_000275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000275" }, { "database": "PubMed", "id": "35731579", "url": "https://glygen.org/publication/PubMed/35731579" } ] }, { "annotation": "The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_000275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000275" } ] }, { "annotation": "The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.", "evidence": [ { "database": "UniProtKB", "id": "Q5JPU2", "url": "https://www.uniprot.org/uniprot/Q5JPU2#function" }, { "database": "UniProtKB", "id": "ARBA00003754", "url": "https://www.uniprot.org/uniprot/ARBA00003754#function" }, { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559#function" }, { "database": "PubMed", "id": "19081061", "url": "https://glygen.org/publication/PubMed/19081061" }, { "database": "PubMed", "id": "7782287", "url": "https://glygen.org/publication/PubMed/7782287" } ] } ], "disease": [ 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"MONDO:0012120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012120", "name": "pyruvate dehydrogenase phosphatase deficiency", "description": "Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period." }, { "id": "MONDO:0012120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012120", "name": "PDH phosphatase deficiency", "description": "" }, { "id": "MONDO:0012120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012120", "name": "pyruvate dehydrogenase phosphatase deficiency", "description": "" }, { "id": "MONDO:0012120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012120", "name": "PDHPD", "description": "" }, { "id": "MONDO:0012120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012120", "name": "lactic acidemia with pyruvate dehydrogenase phosphatase deficiency", "description": "" }, { "id": "MONDO:0013580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013580", "name": "pyruvate dehydrogenase E1-beta deficiency", "description": "Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia." }, { "id": "MONDO:0013580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013580", "name": "PDHBD", "description": "" }, { "id": "MONDO:0013580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013580", "name": "pyruvate dehydrogenase E1-beta deficiency", "description": "" }, { "id": "MONDO:0013580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013580", "name": "pyruvate dehydrogenase complex E1 component subunit beta deficiency", "description": "" }, { "id": "MONDO:0013580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013580", "name": "pyruvate dehydrogenase E1-BETA deficiency", "description": "" }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "pyruvate dehydrogenase E1-alpha deficiency", "description": "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "pyruvate decarboxylase deficiency", "description": "" }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "PDHAD", "description": "" }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "pyruvate dehydrogenase E1-alpha deficiency", "description": "" }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "pyruvate dehydrogenase complex E1 component subunit alpha deficiency", "description": "" }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant", "description": "" }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "PDH deficiency", "description": "" }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "ataxia with lactic acidosis 1", "description": "" }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "ataxia, intermittent, with abnormal pyruvate metabolism", "description": "" }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "ataxia, intermittent, with pyruvate dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency", "description": "" }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "lactic acidemia, thiamine-responsive", "description": "" }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "pyruvate dehydrogenase Complex deficiency", "description": "" }, { "id": "MONDO:0010717", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010717", "name": "pyruvate dehydrogenase E1-ALPHA deficiency", "description": "" }, { "id": "MONDO:0009502", 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"" }, { "id": "MONDO:0009502", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009502", "name": "pyruvate dehydrogenase complex component E2 deficiency", "description": "" }, { "id": "MONDO:0009502", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009502", "name": "PDHDD", "description": "" }, { "id": "MONDO:0009502", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009502", "name": "lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex", "description": "" }, { "id": "MONDO:0009503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009503", "name": "pyruvate dehydrogenase E3-binding protein deficiency", "description": "Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction." }, { "id": "MONDO:0009503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009503", "name": "2-oxoglutarate complex deficiency", "description": "" }, { "id": "MONDO:0009503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009503", "name": "Glycine cleavage system L protein deficiency", "description": "" }, { "id": "MONDO:0009503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009503", "name": "branched chain alpha-ketoacid dehydrogenase complex deficiency", "description": "" }, { "id": "MONDO:0009503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009503", "name": "diaphorase deficiency", "description": "" }, { "id": "MONDO:0009503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009503", "name": "dihydrolipoyl dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0009503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009503", "name": "lacticacidemia 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"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", 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"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 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08559", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08559" } ], "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", 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08559", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08559" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P08559", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08559" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "1.2.4.1", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.2.4.1&UniProtAcc=P08559", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd02000", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02000", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "PDHA1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHA1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5160", "url": "https://www.ncbi.nlm.nih.gov/gene/5160", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "8806", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8806", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P08559", "url": "https://www.ebi.ac.uk/intact/interactors/id:P08559*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "Q5JPT9", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q5JPT9*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001017", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001017", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017597", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017597", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029061", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029061", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5160", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5160", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "300502", "url": "http://www.omim.org/entry/300502", "database": "MIM", "categories": [ "Other" ] }, { "id": "312170", "url": "http://www.omim.org/entry/312170", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P08559", "url": "https://www.nextprot.org/entry/NX_P08559", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P08559", "url": "https://oglcnac.org/atlas/detail/P08559", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P08559", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08559", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "LGYEMPC", "url": "https://omabrowser.org/oma/group/LGYEMPC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "166915at2759", "url": "http://www.orthodb.org/?query=166915at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11516", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11516", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11516:SF52", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11516:SF52", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11516:SF60", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11516:SF60", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1NI4", "url": "https://www.rcsb.org/structure/1NI4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2OZL", "url": "https://www.rcsb.org/structure/2OZL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3EXE", "url": "https://www.rcsb.org/structure/3EXE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3EXF", "url": "https://www.rcsb.org/structure/3EXF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3EXG", "url": "https://www.rcsb.org/structure/3EXG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3EXH", "url": "https://www.rcsb.org/structure/3EXH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3EXI", "url": "https://www.rcsb.org/structure/3EXI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6CER", "url": "https://www.rcsb.org/structure/6CER", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6CFO", "url": "https://www.rcsb.org/structure/6CFO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00676", "url": "http://pfam.xfam.org/family/PF00676", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P08559", "url": "https://pharos.nih.gov/targets/P08559", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P08559", "url": "http://purl.obolibrary.org/obo/PR_P08559", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-204174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204174", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5362517", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5362517", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000275", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "19189", "url": "https://www.rhea-db.org/rhea/19189", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A8Q3WLI8", "url": "https://www.uniprot.org/uniprot/A0A8Q3WLI8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WLI8-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WLI8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WLK5", "url": "https://www.uniprot.org/uniprot/A0A8Q3WLK5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WLK5-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WLK5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08559-1", "url": "https://www.uniprot.org/uniprot/P08559-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08559-2", "url": "https://www.uniprot.org/uniprot/P08559-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08559-3", "url": "https://www.uniprot.org/uniprot/P08559-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08559-4", "url": "https://www.uniprot.org/uniprot/P08559-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JPT9", "url": "https://www.uniprot.org/uniprot/Q5JPT9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JPT9-1", "url": "https://www.uniprot.org/uniprot/Q5JPT9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JPU0", "url": "https://www.uniprot.org/uniprot/Q5JPU0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JPU0-1", "url": "https://www.uniprot.org/uniprot/Q5JPU0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JPU1", "url": "https://www.uniprot.org/uniprot/Q5JPU1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JPU1-1", "url": "https://www.uniprot.org/uniprot/Q5JPU1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JPU2", "url": "https://www.uniprot.org/uniprot/Q5JPU2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JPU2-1", "url": "https://www.uniprot.org/uniprot/Q5JPU2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS", "length": 390, "header": "sp|P08559-1|ODPA_HUMAN Isoform 1 of Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial OS=Homo sapiens OX=9606 GN=PDHA1 PE=1 SV=3 CANONICAL=P08559-1" }, "isoforms": [ { "isoform_ac": "A0A8Q3WLI8-1", "url": "", "sequence": { "sequence": "MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGAPGRWDCSSL", "length": 150, "header": "tr|A0A8Q3WLI8-1|A0A8Q3WLI8_HUMAN Computationally mapped isoform of Pyruvate dehydrogenase E1 subunit alpha 1 OS=Homo sapiens OX=9606 GN=PDHA1 PE=1 SV=1 CANONICAL=P08559-1" }, "locus": { "chromosome": "X", "start_pos": 19354522, "end_pos": 19344038, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696705.1", "url": "https://www.ensembl.org/id/ENST00000696705.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512824.1", "url": "https://www.ensembl.org/id/ENSP00000512824.1" } ] } }, { "isoform_ac": "A0A8Q3WLK5-1", "url": "", "sequence": { "sequence": "MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGPDIRSLQHGSFVEITLYFHL", "length": 160, "header": "tr|A0A8Q3WLK5-1|A0A8Q3WLK5_HUMAN Computationally mapped isoform of Pyruvate dehydrogenase E1 subunit alpha 1 OS=Homo sapiens OX=9606 GN=PDHA1 PE=1 SV=1 CANONICAL=P08559-1" }, "locus": { "chromosome": "X", "start_pos": 19355410, "end_pos": 19344038, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696704.1", "url": "https://www.ensembl.org/id/ENST00000696704.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512823.1", "url": "https://www.ensembl.org/id/ENSP00000512823.1" } ] } }, { "isoform_ac": "P08559-1", "url": "", "sequence": { "sequence": "MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS", "length": 390, "header": "sp|P08559-1|ODPA_HUMAN Isoform 1 of Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial OS=Homo sapiens OX=9606 GN=PDHA1 PE=1 SV=3 CANONICAL=P08559-1" }, "locus": { "chromosome": "X", "start_pos": 19359650, "end_pos": 19344038, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000422285.7", "url": "https://www.ensembl.org/id/ENST00000422285.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000394382.2", "url": "https://www.ensembl.org/id/ENSP00000394382.2" } ] } }, { "isoform_ac": "P08559-2", "url": "", "sequence": { "sequence": "MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQFLLPLTQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS", "length": 397, "header": "sp|P08559-2|ODPA_HUMAN Isoform 2 of Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial OS=Homo sapiens OX=9606 GN=PDHA1 PE=1 SV=3 CANONICAL=P08559-1" }, "locus": {} }, { "isoform_ac": "P08559-3", "url": "", "sequence": { "sequence": "MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS", "length": 359, "header": "sp|P08559-3|ODPA_HUMAN Isoform 3 of Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial OS=Homo sapiens OX=9606 GN=PDHA1 PE=1 SV=3 CANONICAL=P08559-1" }, "locus": { "chromosome": "X", "start_pos": 19359650, "end_pos": 19344038, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540249.5", "url": "https://www.ensembl.org/id/ENST00000540249.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440761.1", "url": "https://www.ensembl.org/id/ENSP00000440761.1" } ] } }, { "isoform_ac": "P08559-4", "url": "", "sequence": { "sequence": "MRKMLAAVSRVLSGASQKPRHGLATLPSLVSISRLKQSSHLGLPKCWDYSHSLKTRQASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS", "length": 428, "header": "sp|P08559-4|ODPA_HUMAN Isoform 4 of Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial OS=Homo sapiens OX=9606 GN=PDHA1 PE=1 SV=3 CANONICAL=P08559-1" }, "locus": {} }, { "isoform_ac": "Q5JPT9-1", "url": "", "sequence": { "sequence": "MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQFLLPLTQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGD", "length": 203, "header": "tr|Q5JPT9-1|Q5JPT9_HUMAN Computationally mapped isoform of Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial OS=Homo sapiens OX=9606 GN=PDHA1 PE=1 SV=8 CANONICAL=P08559-1" }, "locus": { "chromosome": "X", "start_pos": 19359650, "end_pos": 19344038, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000355808.9", "url": "https://www.ensembl.org/id/ENST00000355808.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000348062.5", "url": "https://www.ensembl.org/id/ENSP00000348062.5" } ] } }, { "isoform_ac": "Q5JPU0-1", "url": "", "sequence": { "sequence": "MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVVKDEDCVLL", "length": 180, "header": "tr|Q5JPU0-1|ODPA_HUMAN Computationally mapped isoform of Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial OS=Homo sapiens OX=9606 GN=PDHA1 PE=1 SV=1 CANONICAL=P08559-1" }, "locus": { "chromosome": "X", "start_pos": 19353203, "end_pos": 19344038, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000379805.4", "url": "https://www.ensembl.org/id/ENST00000379805.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000369133.3", "url": "https://www.ensembl.org/id/ENSP00000369133.3" } ] } }, { "isoform_ac": "Q5JPU1-1", "url": "", "sequence": { "sequence": "MRKMLAAVSRVLSGASQKPRHGLATLPSLVSISRLKQSSHLGLPKCWDYSHSLKTRQASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIV", "length": 205, "header": "tr|Q5JPU1-1|ODPA_HUMAN Computationally mapped isoform of Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial OS=Homo sapiens OX=9606 GN=PDHA1 PE=1 SV=1 CANONICAL=P08559-1" }, "locus": { "chromosome": "X", "start_pos": 19359650, "end_pos": 19344038, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000423505.5", "url": "https://www.ensembl.org/id/ENST00000423505.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000406473.1", "url": "https://www.ensembl.org/id/ENSP00000406473.1" } ] } }, { "isoform_ac": "Q5JPU2-1", "url": "", "sequence": { "sequence": "MRKMLAAVSRVLSGASQKPFAGSPPPRHLTVGRKLSSRYEVTFESAQASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS", "length": 418, "header": "tr|Q5JPU2-1|ODPA_HUMAN Computationally mapped isoform of Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial OS=Homo sapiens OX=9606 GN=PDHA1 PE=1 SV=2 CANONICAL=P08559-1" }, "locus": { "chromosome": "X", "start_pos": 19359650, "end_pos": 19344038, "strand": 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"journal": "Human mutation", "date": "1996", "authors": "Lissens W, De Meirleir L, Seneca S, Benelli C, Marsac C, Poll-The BT, Briones P, Ruitenbeek W, van Diggelen O, Chaigne D, Ramaekers V, Liebaers I", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "reference": [ { "type": "PubMed", "id": "8664900", "url": "https://glygen.org/publication/PubMed/8664900" } ] }, { "title": "Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy.", "journal": "Pediatric research", "date": "1996", "authors": "Huizing M, Ruitenbeek W, Thinnes FP, DePinto V, Wendel U, Trijbels FJ, Smit LM, ter Laak HJ, van den Heuvel LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "8726225", "url": "https://glygen.org/publication/PubMed/8726225" } ] }, { "title": "Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Rowles J, Scherer SW, Xi T, Majer M, Nickle DC, Rommens JM, Popov KM, Harris RA, Riebow NL, Xia J, Tsui LC, Bogardus C, Prochazka M", "evidence": [ { "database": "Reactome", "id": "R-HSA-204174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204174" } ], "reference": [ { "type": "PubMed", "id": "8798399", "url": "https://glygen.org/publication/PubMed/8798399" } ] }, { "title": "Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS).", "journal": "Human mutation", "date": "1996", "authors": "Tripatara A, Kerr DS, Lusk MM, Kolli M, Tan J, Patel MS", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "reference": [ { "type": "PubMed", "id": "8844217", "url": "https://glygen.org/publication/PubMed/8844217" } ] }, { "title": "Structural and functional characterization of the human brain D-aspartate oxidase.", "journal": "Journal of biochemistry", "date": "1997", "authors": "Setoyama C, Miura R", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "9163533", "url": "https://glygen.org/publication/PubMed/9163533" } ] }, { "title": "Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.", "journal": "Journal of inherited metabolic disease", "date": "1997", "authors": "Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Osaka H, Kimura S, Kuroda Y", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "reference": [ { "type": "PubMed", "id": "9266390", "url": "https://glygen.org/publication/PubMed/9266390" } ] }, { "title": "Cloning, expression, and properties of the regulatory subunit of bovine pyruvate dehydrogenase phosphatase.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Lawson JE, Park SH, Mattison AR, Yan J, Reed LJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-204174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204174" } ], "reference": [ { "type": "PubMed", "id": "9395502", "url": "https://glygen.org/publication/PubMed/9395502" } ] }, { "title": "Evidence for existence of tissue-specific regulation of the mammalian pyruvate dehydrogenase complex.", "journal": "The Biochemical journal", "date": "1998", "authors": "Bowker-Kinley MM, Davis WI, Wu P, Harris RA, Popov KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-204174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204174" } ], "reference": [ { "type": "PubMed", "id": "9405293", "url": "https://glygen.org/publication/PubMed/9405293" } ] }, { "title": "Isoenzymes of pyruvate dehydrogenase phosphatase. DNA-derived amino acid sequences, expression, and regulation.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Huang B, Gudi R, Wu P, Harris RA, Hamilton J, Popov KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-204174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204174" } ], "reference": [ { "type": "PubMed", "id": "9651365", "url": "https://glygen.org/publication/PubMed/9651365" } ] }, { "title": "Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.", "journal": "Human mutation", "date": "1998", "authors": "Otero LJ, Brown RM, Brown GK", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "reference": [ { "type": "PubMed", "id": "9671272", "url": "https://glygen.org/publication/PubMed/9671272" } ] }, { "title": "Involvement of an active-site Zn2+ ligand in the catalytic mechanism of human glyoxalase I.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Ridderstrom M, Cameron AD, Jones TA, Mannervik B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "9705294", "url": "https://glygen.org/publication/PubMed/9705294" } ] }, { "title": "Pharmacokinetics, metabolism and toxicology of dichloroacetate.", "journal": "Drug metabolism reviews", "date": "1998", "authors": "Stacpoole PW, Henderson GN, Yan Z, Cornett R, James MO", "evidence": [ { "database": "Reactome", "id": "R-HSA-204174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204174" } ], "reference": [ { "type": "PubMed", "id": "9710704", "url": "https://glygen.org/publication/PubMed/9710704" } ] }, { "title": "C-terminal tripeptide Ser-Asn-Leu (SNL) of human D-aspartate oxidase is a functional peroxisome-targeting signal.", "journal": "The Biochemical journal", "date": "1998", "authors": "Amery L, Brees C, Baes M, Setoyama C, Miura R, Mannaerts GP, Van Veldhoven PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "9820813", "url": "https://glygen.org/publication/PubMed/9820813" } ] } ], "pathway": [ { "id": "hsa:5160", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5160", "resource": "KEGG Pathway" }, { "id": "R-HSA-204174", "name": "Regulation of pyruvate dehydrogenase (PDH) complex", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204174", "resource": "Reactome", "description": "Regulation of pyruvate dehydrogenase (PDH) complex" }, { "id": "R-HSA-389661", "name": "Glyoxylate metabolism and glycine degradation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661", "resource": "Reactome", "description": "Glyoxylate metabolism and glycine degradation" }, { "id": "R-HSA-5362517", "name": "Signaling by Retinoic Acid", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5362517", "resource": "Reactome", "description": "Signaling by Retinoic Acid" }, { "id": "R-HSA-70268", "name": "Pyruvate metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268", "resource": "Reactome", "description": "Pyruvate metabolism" }, { "id": "R-HSA-9837999", "name": "Mitochondrial protein degradation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999", "resource": "Reactome", "description": "Mitochondrial protein degradation" } ], "orthologs": [ { "uniprot_canonical_ac": "P16387-1", "protein_name": "Pyruvate dehydrogenase E1 component subunit alpha, mitochondrial", "gene_name": "PDA1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MLAASFKRQPSQLVRGLGAVLRTPTRIGHVRTMATLKTTDKKAPEDIEGSDTVQIELPESSFESYMLEPPDLSYETSKATLLQMYKDMVIIRRMEMACDALYKAKKIRGFCHLSVGQEAIAVGIENAITKLDSIITSYRCHGFTFMRGASVKAVLAELMGRRAGVSYGKGGSMHLYAPGFYGGNGIVGAQVPLGAGLAFAHQYKNEDACSFTLYGDGASNQGQVFESFNMAKLWNLPVVFCCENNKYGMGTAASRSSAMTEYFKRGQYIPGLKVNGMDILAVYQASKFAKDWCLSGKGPLVLEYETYRYGGHSMSDPGTTYRTRDEIQHMRSKNDPIAGLKMHLIDLGIATEAEVKAYDKSARKYVDEQVELADAAPPPEAKLSILFEDVYVKGTETPTLRGRIPEDTWDFKKQGFASRD", "length": 420 }, "evidence": [ { "id": "P08559", "url": "https://omabrowser.org/oma/group/P08559/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "P35486-1", "protein_name": "Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial", "gene_name": "Pdha1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRKMLAAVSRVLAGSAQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLPVRAILAELTGRRGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATKFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS", "length": 390 }, "evidence": [ { "id": "45929020", "url": "http://www.informatics.jax.org/homology/45929020", "database": "MGI" }, { "id": "P08559", "url": "https://omabrowser.org/oma/group/P08559/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q7KVX1-1", "protein_name": "Pyruvate dehydrogenase E1 component subunit alpha", "gene_name": "Pdha", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLRTLSRVSELPIIVKQLQKRCHNNNNNNIIISGCRILSNNNNNSSIDIIRNGRYSSSFFGLFQNAAQAGVSKTNNYATEATVQVNRPFKLHRLDEGPATEVKLTKDQALKYYTQMQTIRRLETAAGNLYKEKIIRGFCHLYSGQEACAVGMKAAMRDVDNIISAYRVHGWTYLMGVSPSGVLAELTGVQGGCARGKGGSMHMYAPNFYGGNGIVGAQVPLGAGVGLACKYKGNGGMCLALYGDGAANQGQVFEAYNMAYLWKLPVIFVCENNNYGMGTSSERASCNTDYYTRGDALPGIWVDGMDVLAVRSATEFAINYVNTHGPLVMETNTYRYSGHSMSDPGTSYRTREEIQEVRQKRDPITSFKELCIELGLITTDEVKAIDLKVRKEVDEATAFAKSDAELGVSHLWTDVYSNNLEPKLRGTIAYDIDHIQERKGVNH", "length": 443 }, "evidence": [ { "id": "P08559", "url": "https://omabrowser.org/oma/group/P08559/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "pmid": "" }, { "name": "mitochondrial pyruvate dehydrogenase complex", "id": "GO:0005967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005967", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "pmid": "" }, { "name": "pyruvate dehydrogenase complex", "id": "GO:0045254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045254", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor", "id": "GO:0016624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016624", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "pmid": "" }, { "name": "pyruvate dehydrogenase (acetyl-transferring) activity", "id": "GO:0004739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004739", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "pmid": "" }, { "name": "pyruvate dehydrogenase (NAD+) activity", "id": "GO:0034604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034604", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "pmid": "" }, { "name": "acetyl-CoA biosynthetic process from pyruvate", "id": "GO:0006086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006086", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "pmid": "" }, { "name": "tricarboxylic acid cycle", "id": "GO:0006099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "Phosphorylation at Ser-232, Ser-293 and Ser-300 by PDK family kinases inactivates the enzyme; for this phosphorylation at a single site is sufficient. Dephosphorylation at all three sites, i.e. at Ser-232, Ser-293 and Ser-300, is required for reactivation.", "evidence": [ { "database": "UniProtKB", "id": "P08559", "url": "https://www.uniprot.org/uniprot/P08559" }, { "database": "PubMed", "id": "17474719", "url": "https://glygen.org/publication/PubMed/17474719" }, { "database": "PubMed", "id": "19081061", "url": "https://glygen.org/publication/PubMed/19081061" }, { "database": "PubMed", "id": "11486000", "url": "https://glygen.org/publication/PubMed/11486000" } ] } ], "interactions": [], "reactions": [ { "id": "19189", "name": "", "equation": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P26284-1", "P49432-1", "Q06437-1", "D4A5G8-1", "P08559-1", "P11177-1", "P29803-1", "P35487-1", "Q9D051-1", "P35486-1", "P16387-1", "P32473-1", "Q86HX0-1", "Q54C70-1", "Q7KVX1-1", "Q9W4H4-1", "Q7K5K3-1" ], "evidence": [ { "id": "19189", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19189" } ] }, { "id": "R-HSA-203946", "name": "PDK isoforms phosphorylate lipo-PDH", "equation": "", "summary": "The mitochondrial pyruvate dehydrogenase (PDH) complex (lipo-PDH) irreversibly decarboxylates pyruvate to acetyl CoA, thereby serving to oxidatively remove lactate, which is in equilibrium with pyruvate, and to link glycolysis in the cytosol to the tricarboxylic acid cycle in the mitochondria matrix. Pyruvate Dehydrogenase Kinase (PDK) in the mitochondrial matrix catalyzes the phosphorylation of serine residues of the E1 alpha subunit of the PDH complex, inactivating it. Pyruvate negatively regulates this reaction, and NADH and acetyl CoA positively regulate it (Bao et al. 2004). Four PDK isoforms have been identified and shown to catalyze the phosphorylation of E1 alpha in vitro (Gudi et al. 1995, Kolobova et al. 2001, Rowles et al. 1996). They differ in their expression patterns and quantitative responses to regulatory small molecules. All four isoforms catalyze the phosphorylation of serine residues 293 (\\site 1\\) and 300 (\\site 2\\); PDK1 can also catalyse the phosphorylation of serine 232 (\\site 3\\). Phosphorylation of a single site in a single E1 alpha subunit is sufficient for enzyme inactivation (Bowker-Kinley et al. 1998, Gudi et al. 1995, Kolobova et al. 2001, Korotchkina and Patel, 2001). The PDH-PDK axis is emerging as an important therapeutic point in genetic mitochondrial diseases, pulmonary arterial hypertension and cancer where cellular metabolism is perturbed (James et al. 2017). Dichloroacetate (DCA) is an acid salt analogue of acetic acid that is used as a drug to inhibit PDK (Li et al. 2009). The effect is to keep the PDH complex in an active form thus stimulating mitochondrial oxidative metabolism. Chronic DCA administration may cause reversible peripheral neuropathy in adults (Kaufmann et al. 2006), but is well tolerated in children and adolescents suffering from the primary mitochondrial disease lactic acidosis (Abdelmalak et al. 2013, Stacpoole et al. 2008). The Warburg effect is the observation that cancer cells prefer aerobic glycolysis to oxidative phosphorylation (Warburg 1956). Whether this effect is the consequence of genetic dysregulation in cancer or the cause of cancer remains unknown. It stands true for most types of cancer cells and has become one of the hallmarks of cancer. Aerobic glycolysis produces ATP at a much faster rate than oxidative phosphorylation, confering growth advantages to tumor cells. DCA, binding to and inhibiting PDK isoforms, promotes a shift from glycolysis to oxidative phosphorylation and reversing the Warburg effect. Its potential role, alone or in combination, in several cancers is being investigated (Kankotia & Stacpoole 2014, Tran et al. 2016).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-HSA-70070" ], "output_participant_list": [], "enzyme_list": [ "P10515-1", "P29803-1", "Q15120-1", "Q16654-1", "P09622-1", "P08559-1", "P11177-1", "Q15118-1", "Q15119-1" ], "evidence": [ { "id": "R-HSA-203946", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-203946" } ] }, { "id": "R-HSA-204169", "name": "PDP dephosphorylates p-lipo-PDH", "equation": "", "summary": "Pyruvate dehydrogenase phosphatase (PDP) in the mitochondrial matrix catalyzes the hydrolytic removal of phosphate groups from phosphoserine residues in the E1 alpha subunit of the pyruvate dehydrogenase complex. The active form of PDP is a heterodimer of a catalytic subunit and a regulatory one. Two isoforms of the catalytic subunit have been identified and biochemically characterized (Huang et al. 1998) and mutations in PDP1 have been associated with PDP deficiency in vivo (Maj et al. 2005). The properties of the human regulatory subunit have been deduced from those of its bovine homologue (Lawson et al. 1997). The activity of PDP1 is greatly enhanced through Ca2+ -dependent binding of the catalytic subunit (PDP1c) to the L2 (inner lipoyl) domain of dihydrolipoyl acetyltransferase (E2), which is also integrated in the pyruvate dehydrogenase complex. PDP activity requires Mg2+ (Huang et al. 1998).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-HSA-210342" ], "output_participant_list": [], "enzyme_list": [ "P10515-1", "P29803-1", "P09622-1", "Q9P0J1-1", "P08559-1", "P11177-1", "Q9P2J9-1" ], "evidence": [ { "id": "R-HSA-204169", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204169" } ] }, { "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-71397", "name": "lipo-PDH decarboxylates PYR to Ac-CoA", "equation": "", "summary": "The mitochondrial pyruvate dehydrogenase complex catalyzes the reaction of pyruvate, CoASH, and NAD+ to form acetylCoA, CO2, and NADH. The enzyme complex contains multiple copies of three different proteins, E1 alpha, E1 beta, E2, and E3, each with distinct catalytic activities (Reed and Hackert 1990; Zhou et al 2001). The reaction starts with the oxidative decarboxylation of pyruvate catalyzed by E1 alpha and beta (pyruvate dehydrogenase). Lipoamide cofactor associated with E1 is reduced at the same time. Next, the acetyl group derived from pyruvate is transferred to coenzyme A in two steps catalyzed by E2 (dihydrolipolyl transacetylase). Finally, the oxidized form of lipoamide is regenerated and electrons are transferred to NAD+ in two steps catalyzed by E3 (dihydrolipoyl dehydrogenase). The biochemical details of this reaction have been worked out with pyruvate dehydrogenase complex and subunits purified from bovine tissue and other non-human sources. Direct evidence for the roles of the corresponding human proteins comes from studies of patients expressing mutant forms of E1 alpha (Lissens et al. 2000), E1 beta (Brown et al. 2004), E2 (Head et al. 2005), and E3 (Brautigam et al. 2005).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P10515-1", "P29803-1", "P09622-1", "P08559-1", "P11177-1" ], "evidence": [ { "id": "R-HSA-71397", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71397" } ] }, { "id": "R-HSA-9838035", "name": "CLPXP binds mitochondrial matrix proteins", "equation": "", "summary": "The CLPXP complex is an ATP-dependent protease located in the mitochondrial matrix that binds, unfolds, and degrades a specific set of protein substrates. The CLPXP complex comprises two heptameric rings of CLPP protease subunits and two hexameric rings of CLPX ATPase subunits (Kang et al. 2002, 2005). Upon binding the CLPXP complex, substrate proteins are unfolded by CLPX in an ATP-dependent reaction and translocated to the CLPP protease (reviewed in Baker and Sauer 2012, Liu et al. 2014). The CLPXP complex interacts with more than 200 mitochondrial proteins (Cole et al. 2015, Ishizawa et al. 2019, Mabanglo et al. 2022) and degrades several mitochondrial matrix proteins (Lee et al. 2021, Key et al. 2021), including ERAL1, a putative 12S rRNA chaperone (inferred from mouse homologs in Szczepanowska et al. 2016, Key et al. 2022) and heme-bound ALAS1 (Kubota et al. 2016, Nomura et al. 2021). CLPXP can also regulate proteins involved in bioenergetics such as components of the electron transport chain suggesting that it can regulate proteins in the inner mitochondrial membrane (Seo et al. 2016, Ishizawa et al. 2019, Mabanglo et al. 2022). CLPXP is also thought to be involved in the mitochondrial unfolded protein response (inferred from C. elegans homologs in Haynes et al. 2007 and mouse homologs in Lian et al. 2023).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "Q96I99-1", "P28331-1", "Q02218-1", "P48735-1", "P07954-1", "O75489-1", "P49753-1", "Q99798-1", "P06576-1", "Q9UKU7-1", "P30837-1", "P05091-1", "P78540-1", "Q16740-1", "P22830-1", "Q9NWU1-1", "P55809-1", "P09622-1", "P42126-1", "Q13011-1", "P10809-1", "P13196-1", "Q02338-1", "P08559-1", "P11177-1", "P24752-1", "P40926-1", "P50213-1", "P23368-1", "Q16836-1", "Q15118-1" ], "evidence": [ { "id": "R-HSA-9838035", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838035" } ] }, { "id": "R-HSA-9838289", "name": "CLPXP degrades mitochondrial matrix proteins", "equation": "", "summary": "The CLPXP complex comprises two heptameric rings of the barrel-shaped CLPP protease and two hexameric rings of the AAA+ CLPX ATPase (Kang et al. 2002, 2005). Though isolated CLPP subunits have peptidase activity, they only have significant protease activity when complexed with CLPX (Kang et al. 2005). The CLPX subunit unfolds proteins so they can enter the axial pore of the CLPP protease (reviewed in Baker and Sauer 2012, Liu et al. 2014). The CLPXP complex binds and degrades several mitochondrial matrix proteins (Lee et al. 2021, Key et al. 2021), including ALAS1 bound to heme (Kubota et al. 2016, Nomura et al. 2021). CLPXP can also regulate proteins involved in bioenergetics such as components of the electron transport chain suggesting that it can regulate proteins in the inner mitochondrial membrane (Seo et al. 2016, Ishizawa et al. 2019, Mabanglo et al. 2022). CLPXP is thought to be involved in the mitochondrial unfolded protein response (inferred from C. elegans homologs in Haynes et al. 2007 and mouse homologs in Lian et al. 2023). Peptides produced by CLPXP are transported from the mitochondria into the cytosol and activate ATF5 (ATFS-1 in C. elegans). ATF5 subsequently translocates to the nucleus where it enhances the expression of mitochondrial proteases (CLPP and LONP1) and chaperones (HSP60 and GRP75) to restore proteostasis (inferred from C. elegans homologs in Haynes et al. 2010, inferred from mouse homologs in Deepa et al. 2016, Fiorese et al. 2016, inferred from rat homologs in Lian et al. 2023). Recessive mutations in the CLPP subunit of the CLPXP complex cause Perreault Syndrome, which is characterized by congenital sensorineural loss, ataxia, azoospermia (male infertility), ovarian failure, psychomotor retardation, ataxia, autism and epilepsy (Jenkinson et al. 2013, Demain et al. 2017, Faridi et al. 2022).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "Q96I99-1", "P28331-1", "Q02218-1", "P48735-1", "P07954-1", "O75489-1", "P49753-1", "Q99798-1", "P06576-1", "Q9UKU7-1", "P30837-1", "P05091-1", "P78540-1", "Q16740-1", "P22830-1", "Q9NWU1-1", "P55809-1", "P09622-1", "P42126-1", "Q13011-1", "P10809-1", "P13196-1", "Q02338-1", "P08559-1", "P11177-1", "P24752-1", "P40926-1", "P50213-1", "P23368-1", "Q16836-1", "Q15118-1" ], "evidence": [ { "id": "R-HSA-9838289", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838289" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-210342", "participant_name": "p-lipo-PDH [mitochondrial matrix]", "crossref": [ { "id": "CPX-6242", "database": "ComplexPortal", "url": "" }, { "id": "CPX-6233", "database": "ComplexPortal", "url": "" } ] }, { "participant_id": "R-HSA-70070", "participant_name": "lipo-PDH [mitochondrial matrix]", "crossref": [ { "id": "CPX-6233", "database": "ComplexPortal", "url": "" }, { "id": "CPX-6242", "database": "ComplexPortal", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "D4A5G8", "gene_name": "Pdha1l1", "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": "D4A5G8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A5G8" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "D4A5G8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A5G8" } ] } ] }, { "uniprot_ac": "O75390", "gene_name": "CS", "activity": [ { "ec_number": "2.3.3.1", "activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).", "evidence": [ { "id": "O75390", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75390" } ] }, { "ec_number": "2.3.3.1", "activity": "", "evidence": [ { "id": "O75390", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75390" } ] } ] }, { "uniprot_ac": "O75489", "gene_name": "NDUFS3", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "O75489", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75489" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "O75489", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75489" } ] } ] }, { "uniprot_ac": "P05091", "gene_name": "ALDH2", "activity": [ { "ec_number": "1.2.1.3", "activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.", "evidence": [ { "id": "P05091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05091" } ] }, { "ec_number": "1.2.1.3", "activity": "", "evidence": [ { "id": "P05091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05091" } ] } ] }, { "uniprot_ac": "P06576", "gene_name": "ATP5F1B", "activity": [ { "ec_number": "7.1.2.2", "activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.", "evidence": [ { "id": "P06576", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06576" } ] }, { "ec_number": "7.1.2.2", "activity": "", "evidence": [ { "id": "P06576", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06576" } ] } ] }, { "uniprot_ac": "P07954", "gene_name": "FH", "activity": [ { "ec_number": "4.2.1.2", "activity": "(S)-malate = fumarate + H2O.", "evidence": [ { "id": "P07954", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07954" } ] }, { "ec_number": "4.2.1.2", "activity": "", "evidence": [ { "id": "P07954", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07954" } ] } ] }, { "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": "P10809", "gene_name": "HSPD1", "activity": [ { "ec_number": "5.6.1.7", "activity": "ATP + H2O + a folded polypeptide = ADP + phosphate + an unfolded polypeptide.", "evidence": [ { "id": "P10809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10809" } ] }, { "ec_number": "5.6.1.7", "activity": "", "evidence": [ { "id": "P10809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10809" } ] } ] }, { "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": "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": "P13196", "gene_name": "ALAS1", "activity": [ { "ec_number": "2.3.1.37", "activity": "glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA.", "evidence": [ { "id": "P13196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13196" } ] }, { "ec_number": "2.3.1.37", "activity": "", "evidence": [ { "id": "P13196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13196" } ] } ] }, { "uniprot_ac": "P16387", "gene_name": "PDA1", "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": "P16387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16387" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P16387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16387" } ] } ] }, { "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": "P22830", "gene_name": "FECH", "activity": [ { "ec_number": "4.98.1.1", "activity": "2 H(+) + heme b = Fe(2+) + protoporphyrin IX.", "evidence": [ { "id": "P22830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22830" } ] }, { "ec_number": "4.98.1.1", "activity": "", "evidence": [ { "id": "P22830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22830" } ] } ] }, { "uniprot_ac": "P23368", "gene_name": "ME2", "activity": [ { "ec_number": "1.1.1.38", "activity": "H(+) + oxaloacetate = CO2 + pyruvate.", "evidence": [ { "id": "P23368", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23368" } ] }, { "ec_number": "1.1.1.38", "activity": "", "evidence": [ { "id": "P23368", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23368" } ] } ] }, { "uniprot_ac": "P24752", "gene_name": "ACAT1", "activity": [ { "ec_number": "2.3.1.9", "activity": "2 acetyl-CoA = acetoacetyl-CoA + CoA.", "evidence": [ { "id": "P24752", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24752" } ] }, { "ec_number": "2.3.1.9", "activity": "", "evidence": [ { "id": "P24752", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24752" } ] } ] }, { "uniprot_ac": "P26284", "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": "P26284", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P26284" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P26284", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P26284" } ] } ] }, { "uniprot_ac": "P28331", "gene_name": "NDUFS1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P28331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28331" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P28331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28331" } ] } ] }, { "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": "P30837", "gene_name": "ALDH1B1", "activity": [ { "ec_number": "1.2.1.3", "activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.", "evidence": [ { "id": "P30837", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30837" } ] }, { "ec_number": "1.2.1.3", "activity": "", "evidence": [ { "id": "P30837", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30837" } ] } ] }, { "uniprot_ac": "P32473", "gene_name": "PDB1", "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": "P32473", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32473" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P32473", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32473" } ] } ] }, { "uniprot_ac": "P35486", "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": "P35486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35486" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P35486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35486" } ] } ] }, { "uniprot_ac": "P35487", "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": "P35487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35487" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P35487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35487" } ] } ] }, { "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": "P40926", "gene_name": "MDH2", "activity": [ { "ec_number": "1.1.1.37", "activity": "(S)-malate + NAD(+) = H(+) + NADH + oxaloacetate.", "evidence": [ { "id": "P40926", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40926" } ] }, { "ec_number": "1.1.1.37", "activity": "", "evidence": [ { "id": "P40926", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40926" } ] } ] }, { "uniprot_ac": "P42126", "gene_name": "ECI1", "activity": [ { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "P42126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42126" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "P42126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42126" } ] } ] }, { "uniprot_ac": "P48735", "gene_name": "IDH2", "activity": [ { "ec_number": "1.1.1.42", "activity": "D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH.", "evidence": [ { "id": "P48735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48735" } ] }, { "ec_number": "1.1.1.42", "activity": "", "evidence": [ { "id": "P48735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48735" } ] } ] }, { "uniprot_ac": "P49432", "gene_name": "Pdhb", "activity": [ { "ec_number": "1.2.4.1", "activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate 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"database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78540" } ] } ] }, { "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": "Q02338", "gene_name": "BDH1", "activity": [ { "ec_number": "1.1.1.30", "activity": "(R)-3-hydroxybutanoate + NAD(+) = acetoacetate + H(+) + NADH.", "evidence": [ { "id": "Q02338", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02338" } ] }, { "ec_number": "1.1.1.30", "activity": "", "evidence": [ { "id": "Q02338", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02338" } ] } ] }, { "uniprot_ac": "Q06437", "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": "Q06437", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q06437" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "Q06437", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q06437" } ] } ] }, { "uniprot_ac": "Q13011", "gene_name": "ECH1", "activity": [ { "ec_number": "5.3.3.-", "activity": "", "evidence": [ { "id": "Q13011", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13011" } ] } ] }, { "uniprot_ac": "Q15118", "gene_name": "PDK1", "activity": [ { "ec_number": "2.7.11.-", "activity": "", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] }, { "ec_number": "2.7.11.2", "activity": "ATP + L-seryl-[pyruvate dehydrogenase E1 alpha subunit] = ADP + H(+) + O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit].", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] }, { "ec_number": "2.7.11.2", "activity": "", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] } ] }, { "uniprot_ac": "Q15119", "gene_name": "PDK2", "activity": [ { "ec_number": "2.7.11.-", "activity": "", "evidence": [ { "id": "Q15119", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15119" } ] }, { "ec_number": "2.7.11.2", "activity": "ATP + L-seryl-[pyruvate dehydrogenase E1 alpha subunit] = ADP + H(+) + O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit].", "evidence": [ { "id": "Q15119", "database": "UniProtKB", "url": 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"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.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 13 ], "snv_sites": [ 328, 330, 378 ], "glycation_sites": [], "phosphorylation_sites": [ 227, 231, 232, 289, 293, 295, 300, 301, 314, 369 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", 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"glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "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": "phosphorylation", "table_stats": [ { "field": "total", "count": 20 }, { "field": "total_sites", "count": 10 } ], "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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 195 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }