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Description for Protein MYH6

myosin, heavy chain 6, cardiac muscle, alpha
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(membrane: 1)
Summary:
Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [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):
    hsa04260; hsa04530; hsa05410; hsa05414; hsa05416
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    MYH cardiac; MYHC; Myosin, cardiac, heavy chain alpha; MYHCA
    Approved Symbol:
    MYH6
    (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:

  • Atrial septal defect 3(Pd);
  • Cardiomyopathy, familial hypertrophic(Pd);
  • Myosin, cardiac, heavy chain variant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01171 Entrez Gene ID: 4624 OMIM ID: 160710 Swissprot Accession: P13533;