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Description for Protein DBT

dihydrolipoamide branched chain transacylase E2
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 2)
Summary:
The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.3.1.168
    KEGG - Orthology:
    K09699
    KEGG - Pathway(s):
    hsa00280; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Branched chain acyltransferase, E2 component; BCATE2; E2 component of branched chain keto acid dehydrogenase complex; Lipoamide acyltransferase component of branched chain alpha keto acid dehydrogenase complex, mitochondrial; E2; BCKAD E2 subunit; Dihydrolipoyl transacylase
    Approved Symbol:
    DBT
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; 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):

    None Available

    Associated Genetic Diseases:

  • Maple syrup urine disease, classic, type II(Pd);
  • Maple syrup urine disease, intermediate, type II(Pd);
  • Maple syrup urine disease, thiamine-responsive, type II(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02010 Entrez Gene ID: 1629 OMIM ID: 248610 Swissprot Accession: P11182;