{ "uniprot_canonical_ac": "P10515-1", "uniprot_ac": "P10515", "uniprot_id": "ODP2_HUMAN", "mass": { "chemical_mass": 68997.0, "monoisotopic_mass": 68997.0 }, "refseq": { "ac": "NP_001922", "name": "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 2 precursor", "summary": "This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001922" }, "gene_names": [ { "name": "DLAT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10515", "id": "P10515" }, { "name": "DLAT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001922", "id": "NP_001922" }, { "name": "DLTA; E2; PBC; PDC-E2; PDCE2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001922", "id": "NP_001922" }, { "name": "DLTA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10515", "id": "P10515" } ], "protein_names": [ { "name": "Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10515" }, { "name": "2.3.1.12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10515" }, { "name": "70 kDa mitochondrial autoantigen of primary biliary cirrhosis", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10515" }, { "name": "Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10515" }, { "name": "E2 component of pyruvate dehydrogenase complex; dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial; 70 kDa mitochondrial autoantigen of primary biliary cirrhosis; M2 antigen complex 70 kDa subunit; pyruvate dehydrogenase complex component E2; dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001922", "id": "NP_001922" }, { "name": "M2 antigen complex 70 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10515" }, { "name": "PBC", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10515" }, { "name": "PDC-E2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10515" }, { "name": "PDCE2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10515" }, { "name": "Pyruvate dehydrogenase complex component E2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10515" }, { "name": "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001922", "id": "NP_001922" } ], "function": [ { "annotation": "As part of the pyruvate dehydrogenase complex, catalyzes the transfers of an acetyl group to a lipoic acid moiety (Probable). The pyruvate dehydrogenase complex, catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links cytoplasmic glycolysis and the mitochondrial tricarboxylic acid (TCA) cycle (Probable).", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515#function" }, { "database": "PubMed", "id": "20160912", "url": "https://glygen.org/publication/PubMed/20160912" } ] }, { "annotation": "Cuproptosis-Related Gene DLAT as a Novel Biomarker Correlated with Prognosis, Chemoresistance, and Immune Infiltration in Pancreatic Adenocarcinoma: A Preliminary Study Based on Bioinformatics Analysis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001922" }, { "database": "PubMed", "id": "36975441", "url": "https://glygen.org/publication/PubMed/36975441" } ] }, { "annotation": "DLAT is a promising prognostic marker and therapeutic target for hepatocellular carcinoma: a comprehensive study based on public databases. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001922" }, { "database": "PubMed", "id": "37828099", "url": "https://glygen.org/publication/PubMed/37828099" } ] }, { "annotation": "Externalization of Mitochondrial PDCE2 on Irradiated Endothelium as a Target for Radiation-Guided Drug Delivery and Precision Thrombosis of Pathological Vasculature. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001922" }, { "database": "PubMed", "id": "36012169", "url": "https://glygen.org/publication/PubMed/36012169" } ] }, { "annotation": "Roles of cuproptosis-related gene DLAT in various cancers: a bioinformatic analysis and preliminary verification on pro-survival autophagy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001922" }, { "database": "PubMed", "id": "36949759", "url": "https://glygen.org/publication/PubMed/36949759" } ] }, { "annotation": "Systematic pan-cancer analysis identifies cuproptosis-related gene DLAT as an immunological and prognostic biomarker.", "evidence": [ { "database": "RefSeq", "id": "NP_001922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001922" }, { "database": "PubMed", "id": "37199628", "url": "https://glygen.org/publication/PubMed/37199628" } ] }, { "annotation": "The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2).", "evidence": [ { "database": "UniProtKB", "id": "E9PEJ4", "url": "https://www.uniprot.org/uniprot/E9PEJ4#function" }, { "database": "UniProtKB", "id": "RU361137", "url": "https://www.uniprot.org/uniprot/RU361137#function" }, { "database": "UniProtKB", "id": "A0A7P0TAX2", "url": "https://www.uniprot.org/uniprot/A0A7P0TAX2#function" }, { "database": "UniProtKB", "id": "A0A7P0TA47", "url": "https://www.uniprot.org/uniprot/A0A7P0TA47#function" }, { "database": "UniProtKB", "id": "A0A7P0TBE2", "url": "https://www.uniprot.org/uniprot/A0A7P0TBE2#function" }, { "database": "UniProtKB", "id": "A0A7P0T997", "url": "https://www.uniprot.org/uniprot/A0A7P0T997#function" }, { "database": "UniProtKB", "id": "A0A7P0TBK2", "url": "https://www.uniprot.org/uniprot/A0A7P0TBK2#function" }, { "database": "UniProtKB", "id": "H0YDD4", "url": "https://www.uniprot.org/uniprot/H0YDD4#function" }, { "database": "UniProtKB", "id": "A0A7P0Z4G4", "url": "https://www.uniprot.org/uniprot/A0A7P0Z4G4#function" } ] }, { "annotation": "This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001922" } ] } ], "disease": [ { "disease_id": "DOID:3649", "recommended_name": { "id": "DOID:3649", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3649", "name": "pyruvate decarboxylase deficiency", "description": "A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex." }, "synonyms": [ { "id": "DOID:3649", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3649", "name": "deficiency of pyruvic dehydrogenase", "description": "" }, { "id": "DOID:3649", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3649", "name": "pyruvate dehydrogenase complex deficiency disease", "description": "" }, { "id": "DOID:3649", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3649", "name": "pyruvate dehydrogenase deficiency", "description": "" }, { "id": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009502", "name": "pyruvate dehydrogenase E2 deficiency", "description": "Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." }, { "id": "MONDO:0009502", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009502", "name": "dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency", "description": "" }, { "id": "MONDO:0009502", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009502", "name": "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency", "description": "" }, { "id": "MONDO:0009502", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009502", "name": "pyruvate dehydrogenase E2 deficiency", "description": "" }, { "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 due to PDX1 deficiency", "description": "" }, { "id": "MONDO:0009503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009503", "name": "lipoamide dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0009503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009503", "name": "pyruvate dehydrogenase E3-binding protein deficiency", "description": "" }, { "id": "MONDO:0009503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009503", "name": "pyruvate dehydrogenase complex component E3 deficiency", "description": "" }, { "id": "MONDO:0009503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009503", "name": "pyruvate dehydrogenase protein X component deficiency", "description": "" }, { "id": "MONDO:0009503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009503", "name": "PDHXD", "description": "" }, { "id": "MONDO:0009503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009503", "name": "lactic acidemia due to defect in lipoyl-containing component 10 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": "" }, { "id": "MIM:608782", "resource": "MIM", "url": "https://www.omim.org/entry/608782", "name": "Pyruvate dehydrogenase phosphatase deficiency", "description": "Pyruvate dehydrogenase phosphatase deficiency" }, { "id": "MIM:614111", "resource": "MIM", "url": "https://www.omim.org/entry/614111", "name": "Pyruvate dehydrogenase E1-beta deficiency", "description": "Pyruvate dehydrogenase E1-beta deficiency" }, { "id": "MIM:312170", "resource": "MIM", "url": "https://www.omim.org/entry/312170", "name": "Pyruvate dehydrogenase E1-alpha deficiency", "description": "Pyruvate dehydrogenase E1-alpha deficiency" }, { "id": "MIM:245348", "resource": "MIM", "url": "https://www.omim.org/entry/245348", "name": "Pyruvate dehydrogenase E2 deficiency", "description": "Pyruvate dehydrogenase E2 deficiency" }, { "id": "MIM:245349", "resource": "MIM", "url": "https://www.omim.org/entry/245349", "name": "Pyruvate dehydrogenase E3-binding protein deficiency", "description": "Pyruvate dehydrogenase E3-binding protein deficiency" } ], "evidence": [ { "id": "245348", "database": "MIM", "url": "https://www.omim.org/entry/245348" } ] } ], "snv": [ { "evidence": [ { "id": "P10515", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10515" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 202, "end_pos": 202, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "11", "chr_pos": "112028890", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S202", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" 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"" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", 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"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 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P10515", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10515" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10515" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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{ "id": "H0YDD4-1", "url": "https://www.uniprot.org/uniprot/H0YDD4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10515-1", "url": "https://www.uniprot.org/uniprot/P10515-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL", "length": 647, "header": "sp|P10515-1|ODP2_HUMAN Isoform 1 of Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=3 CANONICAL=P10515-1" }, "isoforms": [ { "isoform_ac": "A0A7P0T997-1", "url": "", "sequence": { "sequence": "MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL", "length": 636, "header": "tr|A0A7P0T997-1|A0A7P0T997_HUMAN Computationally mapped isoform of Acetyltransferase component of pyruvate dehydrogenase complex OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=1 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112062532, "end_pos": 112025473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679878.1", "url": "https://www.ensembl.org/id/ENST00000679878.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505567.1", "url": "https://www.ensembl.org/id/ENSP00000505567.1" } ] } }, { "isoform_ac": "A0A7P0T9N8-1", "url": "", "sequence": { "sequence": "MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLKYRKKVIWQKSWSLKAQEMSL", "length": 243, "header": "tr|A0A7P0T9N8-1|A0A7P0T9N8_HUMAN Computationally mapped isoform of Dihydrolipoamide S-acetyltransferase OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=1 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112037341, "end_pos": 112025473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680010.1", "url": "https://www.ensembl.org/id/ENST00000680010.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505768.1", "url": "https://www.ensembl.org/id/ENSP00000505768.1" } ] } }, { "isoform_ac": "A0A7P0TA47-1", "url": "", "sequence": { "sequence": "MWRVCARRAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL", "length": 446, "header": "tr|A0A7P0TA47-1|ODP2_HUMAN Computationally mapped isoform of Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=1 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112062532, "end_pos": 112025473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679614.1", "url": "https://www.ensembl.org/id/ENST00000679614.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506007.1", "url": "https://www.ensembl.org/id/ENSP00000506007.1" } ] } }, { "isoform_ac": "A0A7P0TAG1-1", "url": "", "sequence": { "sequence": "MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL", "length": 611, "header": "tr|A0A7P0TAG1-1|A0A7P0TAG1_HUMAN Computationally mapped isoform of Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=1 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112062532, "end_pos": 112025473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681339.1", "url": "https://www.ensembl.org/id/ENST00000681339.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506167.1", "url": "https://www.ensembl.org/id/ENSP00000506167.1" } ] } }, { "isoform_ac": "A0A7P0TAX2-1", "url": "", "sequence": { "sequence": "MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRHVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL", "length": 640, "header": "tr|A0A7P0TAX2-1|A0A7P0TAX2_HUMAN Computationally mapped isoform of Acetyltransferase component of pyruvate dehydrogenase complex OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=1 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112062532, "end_pos": 112025473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681328.1", "url": "https://www.ensembl.org/id/ENST00000681328.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506355.1", "url": "https://www.ensembl.org/id/ENSP00000506355.1" } ] } }, { "isoform_ac": "A0A7P0TBE2-1", "url": "", "sequence": { "sequence": "MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL", "length": 645, "header": "tr|A0A7P0TBE2-1|A0A7P0TBE2_HUMAN Computationally mapped isoform of Acetyltransferase component of pyruvate dehydrogenase complex OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=1 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112062532, "end_pos": 112025473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681316.1", "url": "https://www.ensembl.org/id/ENST00000681316.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506560.1", "url": "https://www.ensembl.org/id/ENSP00000506560.1" } ] } }, { "isoform_ac": "A0A7P0TBK2-1", "url": "", "sequence": { "sequence": "MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL", "length": 554, "header": "tr|A0A7P0TBK2-1|A0A7P0TBK2_HUMAN Computationally mapped isoform of Acetyltransferase component of pyruvate dehydrogenase complex OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=1 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112062532, "end_pos": 112025473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680331.1", "url": "https://www.ensembl.org/id/ENST00000680331.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506707.1", "url": "https://www.ensembl.org/id/ENSP00000506707.1" } ] } }, { "isoform_ac": "A0A7P0Z423-1", "url": "", "sequence": { "sequence": "MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVRLSL", "length": 225, "header": "tr|A0A7P0Z423-1|ODP2_HUMAN Computationally mapped isoform of Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=1 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112028960, "end_pos": 112025473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681638.1", "url": "https://www.ensembl.org/id/ENST00000681638.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506090.1", "url": "https://www.ensembl.org/id/ENSP00000506090.1" } ] } }, { "isoform_ac": "A0A7P0Z459-1", "url": "", "sequence": { "sequence": "MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGGRCSSNSPAFSSYTFSTLPSYSCWTKGKGVC", "length": 294, "header": "tr|A0A7P0Z459-1|ODP2_HUMAN Computationally mapped isoform of Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=1 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112039338, "end_pos": 112025473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679368.1", "url": "https://www.ensembl.org/id/ENST00000679368.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505314.1", "url": "https://www.ensembl.org/id/ENSP00000505314.1" } ] } }, { "isoform_ac": "A0A7P0Z4G4-1", "url": "", "sequence": { "sequence": "MFLLFLFQVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL", "length": 562, "header": "tr|A0A7P0Z4G4-1|A0A7P0Z4G4_HUMAN Computationally mapped isoform of Acetyltransferase component of pyruvate dehydrogenase complex OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=1 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112062532, "end_pos": 112026174, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680411.1", "url": "https://www.ensembl.org/id/ENST00000680411.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505915.1", "url": "https://www.ensembl.org/id/ENSP00000505915.1" } ] } }, { "isoform_ac": "E9PEJ4-1", "url": "", "sequence": { "sequence": "MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL", "length": 542, "header": "tr|E9PEJ4-1|E9PEJ4_HUMAN Computationally mapped isoform of Acetyltransferase component of pyruvate dehydrogenase complex OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=1 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112062532, "end_pos": 112025473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393051.5", "url": "https://www.ensembl.org/id/ENST00000393051.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000376771.1", "url": "https://www.ensembl.org/id/ENSP00000376771.1" } ] } }, { "isoform_ac": "E9PKC7-1", "url": "", "sequence": { "sequence": "MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGFHCLLFPPQCRQAP", "length": 65, "header": "tr|E9PKC7-1|ODP2_HUMAN Computationally mapped isoform of Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=1 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112026240, "end_pos": 112025473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533297.1", "url": "https://www.ensembl.org/id/ENST00000533297.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435374.1", "url": "https://www.ensembl.org/id/ENSP00000435374.1" } ] } }, { "isoform_ac": "H0YDD4-1", "url": "", "sequence": { "sequence": "MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL", "length": 520, "header": "tr|H0YDD4-1|H0YDD4_HUMAN Computationally mapped isoform of Acetyltransferase component of pyruvate dehydrogenase complex OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=2 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112062532, "end_pos": 112025473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531306.2", "url": "https://www.ensembl.org/id/ENST00000531306.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000433432.2", "url": "https://www.ensembl.org/id/ENSP00000433432.2" } ] } }, { "isoform_ac": "P10515-1", "url": "", "sequence": { "sequence": "MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL", "length": 647, "header": "sp|P10515-1|ODP2_HUMAN Isoform 1 of Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial OS=Homo sapiens OX=9606 GN=DLAT PE=1 SV=3 CANONICAL=P10515-1" }, "locus": { "chromosome": "11", "start_pos": 112062532, "end_pos": 112025473, "strand": "-", "evidence": [ { 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"35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 100, "end_pos": 100, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P10515", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10515" } ], "site_lbl": "Ser100" }, { "start_pos": 107, "end_pos": 107, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10515", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10515" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr107" }, { "start_pos": 154, "end_pos": 154, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10515", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10515" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Thr154" }, { "start_pos": 312, "end_pos": 312, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10515", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10515" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Thr312" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular cloning, structural characterization and chromosomal localization of human lipoyltransferase gene.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Fujiwara K, Suzuki M, Okumachi Y, Okamura-Ikeda K, Fujiwara T, Takahashi E, Motokawa Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10103005", "url": "https://glygen.org/publication/PubMed/10103005" } ] }, { "title": "The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.", "journal": "Human molecular genetics", "date": "1999", "authors": "Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10484776", "url": "https://glygen.org/publication/PubMed/10484776" } ] }, { "title": "Expression, purification, and crystal structure determination of recombinant human epidermal-type fatty acid binding protein.", "journal": "Biochemistry", "date": "1999", "authors": "Hohoff C, Borchers T, Rustow B, Spener F, van Tilbeurgh H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5362517", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5362517" } ], "reference": [ { "type": "PubMed", "id": "10493790", "url": "https://glygen.org/publication/PubMed/10493790" } ] }, { "title": "Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Rumsby G, Cregeen DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10524214", "url": "https://glygen.org/publication/PubMed/10524214" } ] }, { "title": "Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.", "journal": "Human mutation", "date": "2000", "authors": "Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "10679936", "url": "https://glygen.org/publication/PubMed/10679936" } ] }, { "title": "Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Jones JM, Morrell JC, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10777549", "url": "https://glygen.org/publication/PubMed/10777549" } ] }, { "title": "Identification and expression of a cDNA for human glycolate oxidase.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Williams E, Cregeen D, Rumsby G", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "10978532", "url": "https://glygen.org/publication/PubMed/10978532" } ] }, { "title": "Structural basis for altered activity of M- and H-isozyme forms of human lactate dehydrogenase.", "journal": "Proteins", "date": "2001", "authors": "Read JA, Winter VJ, Eszes CM, Sessions RB, Brady RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "11276087", "url": "https://glygen.org/publication/PubMed/11276087" } ] }, { "title": "Selective active site inhibitors of human lactate dehydrogenases A4, B4, and C4.", "journal": "Biochemical pharmacology", "date": "2001", "authors": "Yu Y, Deck JA, Hunsaker LA, Deck LM, Royer RE, Goldberg E, Vander Jagt DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "11377399", "url": "https://glygen.org/publication/PubMed/11377399" } ] }, { "title": "Do mammalian cells synthesize lipoic acid? Identification of a mouse cDNA encoding a lipoic acid synthase located in mitochondria.", "journal": "FEBS letters", "date": "2001", "authors": "Morikawa T, Yasuno R, Wada H", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "11389890", "url": "https://glygen.org/publication/PubMed/11389890" } ] }, { "title": "Regulation of pyruvate dehydrogenase activity through phosphorylation at multiple sites.", "journal": "The Biochemical journal", "date": "2001", "authors": "Kolobova E, Tuganova A, Boulatnikov I, Popov KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-204174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204174" } ], "reference": [ { "type": "PubMed", "id": "11485553", "url": "https://glygen.org/publication/PubMed/11485553" } ] }, { "title": "Site specificity of four pyruvate dehydrogenase kinase isoenzymes toward the three phosphorylation sites of human pyruvate dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Korotchkina LG, Patel MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-204174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204174" } ], "reference": [ { "type": "PubMed", "id": "11486000", "url": "https://glygen.org/publication/PubMed/11486000" } ] }, { "title": "The remarkable structural and functional organization of the eukaryotic pyruvate dehydrogenase complexes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Zhou ZH, McCarthy DB, O'Connor CM, Reed LJ, Stoops JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "11752427", "url": "https://glygen.org/publication/PubMed/11752427" } ] }, { "title": "Direct channeling of retinoic acid between cellular retinoic acid-binding protein II and retinoic acid receptor sensitizes mammary carcinoma cells to retinoic acid-induced growth arrest.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Budhu AS, Noy N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5362517", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5362517" } ], "reference": [ { "type": "PubMed", "id": "11909957", "url": "https://glygen.org/publication/PubMed/11909957" } ] }, { "title": "The transport of pyruvate in rat liver mitochondria.", "journal": "FEBS letters", "date": "1971", "authors": "Papa S, Francavilla A, Paradies G, Meduri B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "11945601", "url": "https://glygen.org/publication/PubMed/11945601" } ] }, { "title": "Proteomic analysis of the mouse liver mitochondrial inner membrane.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Da Cruz S, Xenarios I, Langridge J, Vilbois F, Parone PA, Martinou JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "12865426", "url": "https://glygen.org/publication/PubMed/12865426" } ] }, { "title": "Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Zhang X, Roe SM, Hou Y, Bartlam M, Rao Z, Pearl LH, Danpure CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "12899834", "url": "https://glygen.org/publication/PubMed/12899834" } ] }, { "title": "Hydroxyproline metabolism. II. Enzymatic preparation and properties of Delta 1-pyrroline-3-hydroxy-5-carboxylic acid.", "journal": "The Journal of biological chemistry", "date": "1960", "authors": "ADAMS E, GOLDSTONE A", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "13681368", "url": "https://glygen.org/publication/PubMed/13681368" } ] }, { "title": "Hydroxyproline metabolism. IV. Enzymatic synthesis of gamma-hydroxyglutamate from Delta 1-pyrroline-3-hydroxy-5-carboxylate.", "journal": "The Journal of biological chemistry", "date": "1960", "authors": "ADAMS E, GOLDSTONE A", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "13681370", "url": "https://glygen.org/publication/PubMed/13681370" } ] }, { "title": "PURIFICATION OF RAT-LIVER GAMMA-HYDROXYGLUTAMATE TRANSAMINASE AND ITS PROBABLE IDENTITY WITH GLUTAMATE-ASPARTATE TRANSAMINASE.", "journal": "Biochimica et biophysica acta", "date": "1964", "authors": "MAITRA U, DEEKKER E", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "14170323", "url": "https://glygen.org/publication/PubMed/14170323" } ] }, { "title": "PURIFICATION AND PROPERTIES OF RAT LIVER 2-KETO-4-HYDROXYGLUTARATE ALDOLASE.", "journal": "The Journal of biological chemistry", "date": "1964", "authors": "MAITRA U, DEKKER EE", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "14193832", "url": "https://glygen.org/publication/PubMed/14193832" } ] }, { "title": "Structure and function of malic enzymes, a new class of oxidative decarboxylases.", "journal": "Biochemistry", "date": "2003", "authors": "Chang GG, Tong L", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "14596586", "url": "https://glygen.org/publication/PubMed/14596586" } ] }, { "title": "Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Hiromasa Yasuaki, Fujisawa Tetsuro, Aso Yoichi, Roche Thomas E", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" } ], "reference": [ { "type": "PubMed", "id": "14638692", "url": "https://glygen.org/publication/PubMed/14638692" } ] }, { "title": "Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.", "journal": "Human genetics", "date": "2004", "authors": "Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "15138885", "url": "https://glygen.org/publication/PubMed/15138885" } ] }, { "title": "Glycine N-methyltransferases: a comparison of the crystal structures and kinetic properties of recombinant human, mouse and rat enzymes.", "journal": "Proteins", "date": "2004", "authors": "Pakhomova S, Luka Z, Grohmann S, Wagner C, Newcomer ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "15340920", "url": "https://glygen.org/publication/PubMed/15340920" } ] }, { "title": "Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor.", "journal": "Protein expression and purification", "date": "2005", "authors": "Coulter-Mackie MB, Lian Q, Wong SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "15802217", "url": "https://glygen.org/publication/PubMed/15802217" } ] }, { "title": "Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2005", "authors": "Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-204174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204174" } ], "reference": [ { "type": "PubMed", "id": "15855260", "url": "https://glygen.org/publication/PubMed/15855260" } ] }, { "title": "Crystal structure of pyruvate dehydrogenase kinase 3 bound to lipoyl domain 2 of human pyruvate dehydrogenase complex.", "journal": "The EMBO journal", "date": "2005", "authors": "Kato M, Chuang JL, Tso SC, Wynn RM, Chuang DT", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" } ], "reference": [ { "type": "PubMed", "id": "15861126", "url": "https://glygen.org/publication/PubMed/15861126" } ] }, { "title": "A ligand-activated nuclear localization signal in cellular retinoic acid binding protein-II.", "journal": "Molecular cell", "date": "2005", "authors": "Sessler RJ, Noy N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5362517", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5362517" } ], "reference": [ { "type": "PubMed", "id": "15866176", "url": "https://glygen.org/publication/PubMed/15866176" } ] }, { "title": "Cloning and characterization of a novel intronless lactate dehydrogenase gene in human testis.", "journal": "International journal of molecular medicine", "date": "2005", "authors": "Wang H, Zhou Z, Lu L, Xu Z, Sha J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "15870898", "url": "https://glygen.org/publication/PubMed/15870898" } ] }, { "title": "Basigin (CD147) is the target for organomercurial inhibition of monocarboxylate transporter isoforms 1 and 4: the ancillary protein for the insensitive MCT2 is EMBIGIN (gp70).", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Wilson MC, Meredith D, Fox JE, Manoharan C, Davies AJ, Halestrap AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "15917240", "url": "https://glygen.org/publication/PubMed/15917240" } ] }, { "title": "Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Brautigam CA, Chuang JL, Tomchick DR, Machius M, Chuang DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70268", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70268" } ], "reference": [ { "type": "PubMed", "id": "15946682", "url": "https://glygen.org/publication/PubMed/15946682" } ] }, { "title": "The primary structure of the flavoprotein D-aspartate oxidase from beef kidney.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Negri A, Ceciliani F, Tedeschi G, Simonic T, Ronchi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389661" } ], "reference": [ { "type": "PubMed", "id": "1601857", "url": "https://glygen.org/publication/PubMed/1601857" } ] }, { "title": "Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.", "journal": "Ann. 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"uniprot_canonical_ac": "P08461-1", "protein_name": "Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial", "gene_name": "Dlat", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MWRVCARRVQSAVPRAGFRARWATLKGPRTGPAAVRCGSGIPSYGVRSLCGWSYGSATVPRNRILQQLLGSPSRRSYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGEKISEGDLIAEVETDKATVGFESLEECYMAKILVPEGTRDVPVGSIICITVEKPQDIEAFKNYTLDSATAATQAAPAPAAAPAAAPAAPSASAPGSSYPVHMQIVLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKQEDIAAFADYRPTEVTSLKPQAPPPVPPPVAAVPPIPQPLAPTPSAAPAGPKGRVFVSPLAKKLAAEKGIDLTQVKGTGPEGRIIKKDIDSFVPTKAAPAAAAAAPPGPRVAPTPAGVFIDIPISNIRRVIAQRLMQSKQTIPHYYLSVDVNMGEVLLVRKELNKMLEGKGKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGLETIASDVVSLASKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLIPADNEKGFDVASVMSVTLSCDHRVVDGAVGAQWLAEFKKYLEKPVTMLL", "length": 632 }, "evidence": [ { "id": "45918210", "url": "http://www.informatics.jax.org/homology/45918210", "database": "MGI" }, { "id": "P10515", "url": "https://omabrowser.org/oma/group/P10515/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P12695-1", "protein_name": "Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial", "gene_name": "LAT1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSAFVRVVPRISRSSVLTRSLRLQLRCYASYPEHTIIGMPALSPTMTQGNLAAWTKKEGDQLSPGEVIAEIETDKAQMDFEFQEDGYLAKILVPEGTKDIPVNKPIAVYVEDKADVPAFKDFKLEDSGSDSKTSTKAQPAEPQAEKKQEAPAEETKTSAPEAKKSDVAAPQGRIFASPLAKTIALEKGISLKDVHGTGPRGRITKADIESYLEKSSKQSSQTSGAAAATPAAATSSTTAGSAPSPSSTASYEDVPISTMRSIIGERLLQSTQGIPSYIVSSKISISKLLKLRQSLNATANDKYKLSINDLLVKAITVAAKRVPDANAYWLPNENVIRKFKNVDVSVAVATPTGLLTPIVKNCEAKGLSQISNEIKELVKRARINKLAPEEFQGGTICISNMGMNNAVNMFTSIINPPQSTILAIATVERVAVEDAAAENGFSFDNQVTITGTFDHRTIDGAKGAEFMKELKTVIENPLEMLL", "length": 482 }, "evidence": [ { "id": "P10515", "url": "https://omabrowser.org/oma/group/P10515/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q8BMF4-1", "protein_name": "Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial", "gene_name": "Dlat", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MWRVCARRARSAVPRDGFRARWAALKEGPGAPCGSPRIGPAAVRCGSGIPRYGVRSLCGWSSGSGTVPRNRLLRQLLGSPSRRSYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGEKISEGDLIAEVETDKATVGFESLEECYMAKILVPEGTRDVPVGSIICITVEKPQDIEAFKNYTLDLAAAAAPQAAPAAAPAPAAAPAAPSASAPGSSYPTHMQIVLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGAPLCIIVEKQEDIAAFADYRPTEVTSLKPQAAPPAPPPVAAVPPTPQPVAPTPSAAPAGPKGRVFVSPLAKKLAAEKGIDLTQVKGTGPEGRIIKKDIDSFVPSKAAPAAAAAMAPPGPRVAPAPAGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSVDVNMGEVLLVRKELNKMLEGKGKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGLETIASDVVSLASKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLIPADNEKGFDVASVMSVTLSCDHRVVDGAVGAQWLAEFKKYLEKPITMLL", "length": 642 }, "evidence": [ { "id": "45918210", "url": "http://www.informatics.jax.org/homology/45918210", "database": "MGI" }, { "id": "P10515", "url": "https://omabrowser.org/oma/group/P10515/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VM14-1", "protein_name": "dihydrolipoyllysine-residue acetyltransferase", "gene_name": "muc", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLRSLATTRNELGALRSVLLRSNNATYVRRSTGNVVVRALSSQLINSRKLQSIRSKLNTSQSPVTWSYNFARAYANLPEHIRVPLPALSPTMERGSIVSWEKKEGDKLNEGDLLCEIETDKATMGFETPEEGFLAKILIQGGTKDVPVGQLLCIIVPDQGSVAAFANFKDDGAAAAPAAPAAAPAPAPAAAAAPPPPPPPAAAPAAAAPPPAPAAAPAAAGTGRVYASPMAKRLAEAQQLRLQGKGSGVHGSIKSGDLAGQKAAAKPAAAAPAKAPRAAGARYEDIPVTNMRAVIAKRLLESKTQLPHYYVTVQCQVDKLLKFRAKVNKKYEKQGARVSVNDFIIKAVAIASLKVPEANSAWMDTVIRKYDDVDVSVAVSTDKGLITPIVFNADRKGVLEISKDVKALAAKARDNKLQPHEFQGGTISVSNLGMFGVNQFAAVINPPQSCILAIGTTTKQLVADPDSLKGFKEVNMLTVTLSADHRVVDGAVAARWLQHFRDYMEDPSNMVL", "length": 512 }, "evidence": [ { "id": "P10515", "url": "https://omabrowser.org/oma/group/P10515/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" } ], "pmid": "" }, { "name": "pyruvate dehydrogenase complex", "id": "GO:0045254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045254", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" } ], "pmid": "" }, { "name": "mitochondrial pyruvate dehydrogenase complex", "id": "GO:0005967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005967", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "acyltransferase activity", "id": "GO:0016746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016746", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" } ], "pmid": "" }, { "name": "dihydrolipoyllysine-residue acetyltransferase activity", "id": "GO:0004742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004742", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "acetyl-CoA biosynthetic process from pyruvate", "id": "GO:0006086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006086", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" } ], "pmid": "" }, { "name": "tricarboxylic acid cycle", "id": "GO:0006099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 178, "end_pos": 180, "annotation": "n_glycosylation_sequon" }, { "start_pos": 495, "end_pos": 497, "annotation": "n_glycosylation_sequon" }, { "start_pos": 575, "end_pos": 577, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Delipoylated at Lys-132 and Lys-259 by SIRT4, delipoylation decreases the PHD complex activity.", "evidence": [ { "database": "UniProtKB", "id": "P10515", "url": "https://www.uniprot.org/uniprot/P10515" }, { "database": "PubMed", "id": "25525879", "url": "https://glygen.org/publication/PubMed/25525879" } ] } ], "interactions": [], "reactions": [ { "id": "17017", "name": "", "equation": "acetyl-CoA + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] = CoA + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08461-1", "A0A8I6B5J2-1", "P10515-1", "Q8BMF4-1", "P12695-1", "P36413-1" ], "evidence": [ { "id": "17017", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/17017" } ] }, { "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" } ] } ], "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": "A0A8I6B5J2", "gene_name": "Dlat-ps1", "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": "A0A8I6B5J2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6B5J2" } ] }, { "ec_number": "2.3.1.12", "activity": "", "evidence": [ { "id": "A0A8I6B5J2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6B5J2" } ] } ] }, { "uniprot_ac": "P08461", "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": "P08461", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08461" } ] }, { "ec_number": "2.3.1.12", "activity": "", "evidence": [ { "id": "P08461", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08461" } ] } ] }, { "uniprot_ac": "P08559", "gene_name": "PDHA1", "activity": [ { "ec_number": "1.2.4.1", "activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].", "evidence": [ { "id": "P08559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08559" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P08559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08559" } ] } ] }, { "uniprot_ac": "P09622", "gene_name": "DLD", "activity": [ { "ec_number": "1.8.1.4", "activity": "N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] + NAD(+) = H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[protein] + NADH.", "evidence": [ { "id": "P09622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09622" } ] }, { "ec_number": "1.8.1.4", "activity": "", "evidence": [ { "id": "P09622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09622" } ] } ] }, { "uniprot_ac": "P10515", "gene_name": "DLAT", "activity": [ { "ec_number": "2.3.1.12", "activity": "acetyl-CoA + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] = CoA + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[protein].", "evidence": [ { "id": "P10515", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10515" } ] }, { "ec_number": "2.3.1.12", "activity": "", "evidence": [ { "id": "P10515", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10515" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P10515", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10515" } ] } ] }, { "uniprot_ac": "P11177", "gene_name": "PDHB", "activity": [ { "ec_number": "1.2.4.1", "activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].", "evidence": [ { "id": "P11177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11177" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P11177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11177" } ] } ] }, { "uniprot_ac": "P11182", "gene_name": "DBT", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P11182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11182" } ] }, { "ec_number": "2.3.1.168", "activity": "2-methylpropanoyl-CoA + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] = CoA + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[protein].", "evidence": [ { "id": "P11182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11182" } ] }, { "ec_number": "2.3.1.168", "activity": "", "evidence": [ { "id": "P11182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11182" } ] } ] }, { "uniprot_ac": "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": "P12695", "gene_name": "LAT1", "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": "P12695", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12695" } ] }, { "ec_number": "2.3.1.12", "activity": "", "evidence": [ { "id": "P12695", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12695" } ] } ] }, { "uniprot_ac": "P21953", "gene_name": "BCKDHB", "activity": [ { "ec_number": "1.2.4.4", "activity": "3-methyl-2-oxobutanoate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] = CO2 + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase].", "evidence": [ { "id": "P21953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21953" } ] }, { "ec_number": "1.2.4.4", "activity": "", "evidence": [ { "id": "P21953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21953" } ] } ] }, { "uniprot_ac": "P29803", "gene_name": "PDHA2", "activity": [ { "ec_number": "1.2.4.1", "activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].", "evidence": [ { "id": "P29803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29803" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P29803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29803" } ] } ] }, { "uniprot_ac": "P36413", "gene_name": "pdhC", "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": "P36413", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36413" } ] }, { "ec_number": "2.3.1.12", "activity": "", "evidence": [ { "id": "P36413", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36413" } ] } ] }, { "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": "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": "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": "https://www.uniprot.org/uniprot/Q15119" } ] }, { "ec_number": "2.7.11.2", "activity": "", "evidence": [ { "id": "Q15119", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15119" } ] } ] }, { "uniprot_ac": "Q15120", "gene_name": "PDK3", "activity": [ { "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": "Q15120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15120" } ] }, { "ec_number": "2.7.11.2", "activity": "", "evidence": [ { "id": "Q15120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15120" } ] } ] }, { "uniprot_ac": "Q16654", "gene_name": "PDK4", "activity": [ { "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": "Q16654", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16654" } ] }, { "ec_number": "2.7.11.2", "activity": "", "evidence": [ { "id": "Q16654", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16654" } ] } ] }, { "uniprot_ac": "Q8BMF4", "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": "Q8BMF4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BMF4" } ] }, { "ec_number": "2.3.1.12", "activity": "", "evidence": [ { "id": "Q8BMF4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BMF4" } ] } ] }, { "uniprot_ac": "Q96HY7", "gene_name": "DHTKD1", "activity": [ { "ec_number": "1.2.4.-", "activity": "", "evidence": [ { "id": "Q96HY7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96HY7" } ] } ] }, { "uniprot_ac": "Q9P0J1", "gene_name": "PDP1", "activity": [ { "ec_number": "3.1.3.43", "activity": "H2O + O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit] = L-seryl-[pyruvate dehydrogenase E1 alpha subunit] + phosphate.", "evidence": [ { "id": "Q9P0J1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J1" } ] }, { "ec_number": "3.1.3.43", "activity": "", "evidence": [ { "id": "Q9P0J1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J1" } ] } ] }, { "uniprot_ac": "Q9P2J9", "gene_name": "PDP2", "activity": [ { "ec_number": "3.1.3.43", "activity": "H2O + O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit] = L-seryl-[pyruvate dehydrogenase E1 alpha subunit] + phosphate.", "evidence": [ { "id": "Q9P2J9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P2J9" } ] }, { "ec_number": "3.1.3.43", "activity": "", "evidence": [ { "id": "Q9P2J9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P2J9" } ] } ] }, { "uniprot_ac": "Q9Y234", "gene_name": "LIPT1", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q9Y234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y234" } ] }, { "ec_number": "2.3.1.200", "activity": "L-lysyl-[lipoyl-carrier protein] + N(6)-[(R)-lipoyl]-L-lysyl-[glycine-cleavage complex H protein] = L-lysyl-[glycine-cleavage complex H protein] + N(6)-[(R)-lipoyl]-L-lysyl-[lipoyl-carrier protein].", "evidence": [ { "id": "Q9Y234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y234" } ] }, { "ec_number": "2.3.1.200", "activity": "", "evidence": [ { "id": "Q9Y234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y234" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 202, 451 ], "glycation_sites": [], "phosphorylation_sites": [ 100, 107, 154, 312 ], "sequon_annotation_sites": [ { "start_pos": 178, "end_pos": 180 }, { "start_pos": 495, "end_pos": 497 }, { "start_pos": 575, "end_pos": 577 } ] }, "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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"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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 116 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }