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Description for Protein DTNA

dystrobrevin, alpha
15 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • ZnF_ZZ: Zinc-binding domain, present in Dystrophin, CREB-binding protein.
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Dystrobrevin alpha isoform 3; Dystrobrevin alpha isoform 4; Dystrobrevin alpha isoform 5; Dystrobrevin alpha isoform 6; Dystrobrevin alpha isoform 1; Dystrobrevin alpha isoform 2; Dystrobrevin; Dystrophin related protein 3; DRP3; DTN; D18S892E; Dystrobrevin alpha isoform 7
    Approved Symbol:
    DTNA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 18
    Human (de-) phosphorylation sites: 18; 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:

  • Left ventricular noncompaction with congenital heart defects(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 9 : 0
  • Isoform 8 : 0
  • Isoform 7 : 0
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03141 Entrez Gene ID: 1837 OMIM ID: 601239 Swissprot Accession: Q9Y4J8; Q9BS59; A8K541;