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Description for Protein PDHA1

pyruvate dehydrogenase (lipoamide) alpha 1
15 total interacting proteins; 10 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/1)
(phosphoproteome: 1; platelet: 7; undefined: 1)
Summary:
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.2.4.1
    KEGG - Orthology:
    K00161
    KEGG - Pathway(s):
    hsa00010; hsa00020; hsa00290; hsa00620; hsa00650; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    PDHA; PDHCE1A; Pyruvate dehydrogenase (lipoamide) alpha 1; PHE1A
    Approved Symbol:
    PDHA1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 9
    Human (de-) phosphorylation sites: 9; Platelet phosphorylation sites: 1
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • NADH(db)

    Associated Genetic Diseases:

  • Leigh syndrome, X-linked(Pd);
  • Pyruvate dehydrogenase E1-alpha deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02420 Entrez Gene ID: 5160 OMIM ID: 300502 Swissprot Accession: P08559;