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Description for Protein MYH9

myosin, heavy chain 9, non-muscle
27 total interacting proteins; 19 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 13/3)
(alpha granules: 1; ATP binding: 1; cAMP/cGMP binding: 1; membrane: 2; microparticles: 1; phosphoproteome: 1; platelet: 8; secretome: 2; undefined: 2)
Summary:
This gene encodes a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain. The protein is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in MYH9 are the cause of non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • MYOSIN: Myosin. Large ATPases
  • IQ: Short calmodulin-binding motif containing conserved Ile and Gln residues.
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10352
    KEGG - Pathway(s):
    hsa04530; hsa04810; hsa05416
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Cellular myosin heavy chain, type A; Myosin heavy chain, nonmuscle type A; Nonmuscle myosin heavy chain-A; Myosin, heavy chain, nonmuscle, type A; NMMHCA
    Approved Symbol:
    MYH9
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 25
    Human (de-) phosphorylation sites: 25; Platelet phosphorylation sites: 2
    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:

  • Alport-like syndrome with macrothrombocytopenia(Pd);
  • Deafness, autosomal dominant nonsyndromic sensorineural 17(Pd);
  • Epstein syndrome(Pd);
  • Fechtner syndrome(Pd);
  • May-Hegglin anomaly(Pd);
  • Sebastian syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01177 Entrez Gene ID: 4627 OMIM ID: 160775 Swissprot Accession: P35579; Q60FE2;