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Description for Protein MYO5A

myosin VA (heavy chain 12, myoxin)
12 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • MYOSIN: Myosin. Large ATPases
  • IQ: Short calmodulin-binding motif containing conserved Ile and Gln residues.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10357
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Myosin heavy chain 12; Myosin Va; MYO5; MYH12; Myoxin; Dilute myosin heavy chain, non muscle
    Approved Symbol:
    MYO5A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 17
    Human (de-) phosphorylation sites: 17; 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:

  • Griscelli syndrome, type 1(Pd);
  • Griscelli syndrome, type 3(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01179 Entrez Gene ID: 4644 OMIM ID: 160777 Swissprot Accession: Q9UES4; Q9Y4I1; A8CDT9;