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Description for Protein MYO7A

myosin VIIA
13 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(membrane: 1)
Summary:
This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • B41: Band 4.1 homologues
  • SH3: Src homology 3 domains
  • MYOSIN: Myosin. Large ATPases
  • IQ: Short calmodulin-binding motif containing conserved Ile and Gln residues.
  • CC: Coiled Coil
  • AAA: ATPases associated with a variety of cellular activities
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10359
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Myosin, unconventional, family VII, member A; MYU7A
    Approved Symbol:
    MYO7A
    (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):

    None Available

    Associated Genetic Diseases:

  • Deafness, autosomal dominant nonsyndromic sensorineural 11(Pd);
  • Deafness, autosomal dominant nonsyndromic sensorineural 11;
  • DFNA11(Pd);
  • Deafness, neurosensory, autosomal recessive 2(Pd);
  • Usher syndrome, type IB(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02043 Entrez Gene ID: 4647 OMIM ID: 276903 Swissprot Accession: Q13402; B9A012;