{ "uniprot_canonical_ac": "O00330-1", "uniprot_ac": "O00330", "uniprot_id": "ODPX_HUMAN", "mass": { "chemical_mass": 54122.0, "monoisotopic_mass": 54122.0 }, "refseq": { "ac": "NP_001128496", "name": "pyruvate dehydrogenase protein X component, mitochondrial isoform 2", "summary": "The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor 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 eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128496" }, "gene_names": [ { "name": "PDHX", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00330", "id": "O00330" }, { "name": "DLDBP; E3BP; OPDX; PDHXD; PDX1; proX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128496", "id": "NP_001128496" }, { "name": "PDHX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128496", "id": "NP_001128496" }, { "name": "PDX1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00330", "id": "O00330" } ], "protein_names": [ { "name": "Pyruvate dehydrogenase protein X component, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00330" }, { "name": "Dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00330" }, { "name": "E3-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00330" }, { "name": "E3BP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00330" }, { "name": "Lipoyl-containing pyruvate dehydrogenase complex component X", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00330" }, { "name": "proX", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00330" }, { "name": "pyruvate dehydrogenase protein X component, mitochondrial isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128496", "id": "NP_001128496" }, { "name": "pyruvate dehydrogenase protein X component, mitochondrial; dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex; pyruvate dehydrogenase complex, E3-binding protein subunit; pyruvate dehydrogenase complex, lipoyl-containing component X; lipoyl-containing pyruvate dehydrogenase complex component X", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128496", "id": "NP_001128496" } ], "function": [ { "annotation": "Cuproptosis-related gene PDHX and heat stress-related HSPD1 as potential key drivers associated with cell stemness, aberrant metabolism and immunosuppression in esophageal carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001128496", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128496" }, { "database": "PubMed", "id": "36889194", "url": "https://glygen.org/publication/PubMed/36889194" } ] }, { "annotation": "Identification of PDHX as a metabolic target for esophageal squamous cell carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001128496", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128496" }, { "database": "PubMed", "id": "33964039", "url": "https://glygen.org/publication/PubMed/33964039" } ] }, { "annotation": "PDHX is a functional target of miR-27b and that this interaction has consequential effects on cell metabolism which facilitate cell growth and progression in breast cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001128496", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128496" }, { "database": "PubMed", "id": "30012170", "url": "https://glygen.org/publication/PubMed/30012170" } ] }, { "annotation": "Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex.", "evidence": [ { "database": "UniProtKB", "id": "O00330", "url": "https://www.uniprot.org/uniprot/O00330#function" } ] }, { "annotation": "The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor 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 eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001128496", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128496" } ] } ], "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": "245349", "database": "MIM", "url": "https://www.omim.org/entry/245349" } ] } ], "snv": [ { "evidence": [ { "id": "rs1233613857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233613857" }, { "id": "rs1233613857", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1233613857" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 103, "end_pos": 103, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "11", "chr_pos": "34947571", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1590752866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1590752866" }, { "id": "rs1590752866", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1590752866" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 194, "end_pos": 194, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KHS->NHS).", "chr_id": "11", "chr_pos": "34960459", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K194", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 183, "end_pos": 183, "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly decreased DLD binding.", "evidence": [ { "database": "UniProtKB", "id": "O00330", "url": "https://www.uniprot.org/uniprot/O00330" }, { "database": "PubMed", "id": "16442803", "url": "https://glygen.org/publication/PubMed/16442803" } ] }, { "start_pos": 185, "end_pos": 185, "sequence_org": "S", "sequence_mut": "A", "comment": "Strongly decreased DLD binding.", "evidence": [ { "database": "UniProtKB", "id": "O00330", "url": "https://www.uniprot.org/uniprot/O00330" }, { "database": "PubMed", "id": "16442803", "url": "https://glygen.org/publication/PubMed/16442803" } ] }, { "start_pos": 186, "end_pos": 186, "sequence_org": "P", "sequence_mut": "A", "comment": "Strongly decreased DLD binding.", "evidence": [ { "database": "UniProtKB", "id": "O00330", "url": "https://www.uniprot.org/uniprot/O00330" }, { "database": "PubMed", "id": "16442803", "url": "https://glygen.org/publication/PubMed/16442803" } ] }, { "start_pos": 187, "end_pos": 187, "sequence_org": "A", "sequence_mut": "M", "comment": "Strongly decreased DLD binding.", "evidence": [ { "database": "UniProtKB", "id": "O00330", "url": "https://www.uniprot.org/uniprot/O00330" }, { "database": "PubMed", "id": "16442803", "url": "https://glygen.org/publication/PubMed/16442803" } ] }, { "start_pos": 189, "end_pos": 189, "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly decreased DLD binding.", "evidence": [ { "database": "UniProtKB", "id": "O00330", "url": "https://www.uniprot.org/uniprot/O00330" }, { "database": "PubMed", "id": "16442803", "url": "https://glygen.org/publication/PubMed/16442803" } ] }, { "start_pos": 190, "end_pos": 190, "sequence_org": "N", "sequence_mut": "A", "comment": "Decreased DLD binding.", "evidence": [ { "database": "UniProtKB", "id": "O00330", "url": "https://www.uniprot.org/uniprot/O00330" }, { "database": "PubMed", "id": "20160912", "url": "https://glygen.org/publication/PubMed/20160912" }, { "database": "PubMed", "id": "16442803", "url": "https://glygen.org/publication/PubMed/16442803" } ] }, { "start_pos": 190, "end_pos": 190, "sequence_org": "N", "sequence_mut": "K", "comment": "Moderately decreased interaction with DLD.", "evidence": [ { "database": "UniProtKB", "id": "O00330", "url": "https://www.uniprot.org/uniprot/O00330" }, { "database": "PubMed", "id": "20160912", "url": "https://glygen.org/publication/PubMed/20160912" } ] }, { "start_pos": 193, "end_pos": 193, "sequence_org": "E", "sequence_mut": "A", "comment": "Strongly decreased DLD binding.", "evidence": [ { "database": "UniProtKB", "id": "O00330", "url": "https://www.uniprot.org/uniprot/O00330" }, { "database": "PubMed", "id": "16442803", "url": "https://glygen.org/publication/PubMed/16442803" } ] }, { "start_pos": 208, "end_pos": 208, "sequence_org": "R", 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"MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLRGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSKNIRLGSLIGLIVEEGEDWKHVEIPKDVGPPPPVSKPSEPRPSPEPQISIPVKKEHIPGTLRFRLSPAARNILEKHSLDASQGTATGPRG", "length": 182, "header": "tr|E9PRI6-1|E9PRI6_HUMAN Computationally mapped isoform of Pyruvate dehydrogenase complex component X OS=Homo sapiens OX=9606 GN=PDHX PE=1 SV=1 CANONICAL=O00330-1" }, "locus": { "chromosome": "11", "start_pos": 34960504, "end_pos": 34916656, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533262.1", "url": "https://www.ensembl.org/id/ENST00000533262.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000432277.1", "url": "https://www.ensembl.org/id/ENSP00000432277.1" } ] } }, { "isoform_ac": "H0YD97-1", "url": "", "sequence": { "sequence": "XHLSFSRHRNDIKVSVNDFIIKAAAVTLKQMPDVNVSWDGEGPKQLPFIDISVAVATDKGLLTPIIKDAAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNLGMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAKLQQRQLITVTMSSDSRVVDDELATRFLKSFKANLENPIRLA", "length": 189, "header": "tr|H0YD97-1|H0YD97_HUMAN Computationally mapped isoform of Pyruvate dehydrogenase complex component X OS=Homo sapiens OX=9606 GN=PDHX PE=1 SV=1 CANONICAL=O00330-1" }, "locus": { "chromosome": "11", "start_pos": 34995170, "end_pos": 34977784, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526309.1", "url": "https://www.ensembl.org/id/ENST00000526309.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000433204.1", "url": "https://www.ensembl.org/id/ENSP00000433204.1" } ] } }, { "isoform_ac": "O00330-1", "url": "", "sequence": { "sequence": 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"https://www.ensembl.org/id/ENSP00000227868.4" } ] } }, { "isoform_ac": "O00330-2", "url": "", "sequence": { "sequence": "MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLRGDPIKILMPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVQMPDVNVSWDGEGPKQLPFIDISVAVATDKGLLTPIIKDAAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNLGMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAKLQQRQLITVTMSSDSRVVDDELATRFLKSFKANLENPIRLA", "length": 274, "header": "sp|O00330-2|ODPX_HUMAN Isoform 2 of Pyruvate dehydrogenase protein X component, mitochondrial OS=Homo sapiens OX=9606 GN=PDHX PE=1 SV=3 CANONICAL=O00330-1" }, "locus": { "chromosome": "11", "start_pos": 34995169, "end_pos": 34916656, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430469.6", "url": "https://www.ensembl.org/id/ENST00000430469.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000415695.2", "url": "https://www.ensembl.org/id/ENSP00000415695.2" } ] } }, { "isoform_ac": "O00330-3", "url": "", "sequence": { "sequence": "MQSGGAEGSPGAGRTGRGPGSGKAPPAEISSGAPDFPGGDPIKILMPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSKNIRLGSLIGLIVEEGEDWKHVEIPKDVGPPPPVSKPSEPRPSPEPQISIPVKKEHIPGTLRFRLSPAARNILEKHSLDASQGTATGPRGIFTKEDALKLVQLKQTGKITESRPTPAPTATPTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFTEIPASNIRRVIAKRLTESKSTVPHAYATADCDLGAVLKVRQDLVKDDIKVSVNDFIIKAAAVTLKQMPDVNVSWDGEGPKQLPFIDISVAVATDKGLLTPIIKDAAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNLGMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAKLQQRQLITVTMSSDSRVVDDELATRFLKSFKANLENPIRLA", "length": 486, "header": "sp|O00330-3|ODPX_HUMAN Isoform 3 of Pyruvate dehydrogenase protein X component, mitochondrial OS=Homo sapiens OX=9606 GN=PDHX PE=1 SV=3 CANONICAL=O00330-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 274, "start_aa": "Thr", "end_pos": 274, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr274", "evidence": [ { "id": "O00330", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00330" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] } ], "phosphorylation": [ { "start_pos": 162, "end_pos": 162, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00330", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00330" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser162" }, { "start_pos": 168, "end_pos": 168, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00330", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00330" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser168" }, { "start_pos": 196, "end_pos": 196, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00330", "url": "https://www.uniprot.org/uniprot/O00330" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O00330", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00330" } ], "site_lbl": "Ser196" }, { "start_pos": 392, "end_pos": 392, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00330", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00330" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser392" } ], "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. 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