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Description for Protein PCCA

propionyl CoA carboxylase, alpha polypeptide
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 4)
Summary:
The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple 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):
    6.4.1.3
    KEGG - Orthology:
    K01965
    KEGG - Pathway(s):
    hsa00280; hsa00640; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    PCCase alpha subunit; Propanoyl-CoA:carbon dioxide ligase alpha subunit; Propionyl-CoA carboxylase alpha chain, mitochondrial
    Approved Symbol:
    PCCA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 10
    Human (de-) phosphorylation sites: 10; 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):

  • Biotin(db)

    Associated Genetic Diseases:

  • Propionic acidemia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01981 Entrez Gene ID: 5095 OMIM ID: 232000 Swissprot Accession: P05165; Q8WXQ7;