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Description for Protein DLAT

dihydrolipoamide S-acetyltransferase
7 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(platelet: 4)
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. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.3.1.12
KEGG - Orthology:
K00627
KEGG - Pathway(s):
hsa00010; hsa00020; hsa00620; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Pyruvate dehydrogenase complex E2 subunit; PDCE2; M2 antigen complex 70 kDa subunit; 70 kDa mitochondrial autoantigen of primary biliary cirrhosis; DLTA; EC 2.3.1.12; E2
Approved Symbol:
DLAT
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 2
Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Dihydrolipoic Acid(db);
  • NADH(db);
  • Radicicol(db)

    Associated Genetic Diseases:

  • Pyruvate dehydrogenase E2 deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 10578 Entrez Gene ID: 1737 OMIM ID: 608770 Swissprot Accession: P10515; Q86YI5;