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Description for Protein ACTA1

actin, alpha 1, skeletal muscle
114 total interacting proteins; 65 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 6/0)
(membrane: 1; microparticles: 1; platelet: 2; secretome: 2)
Summary:
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • ACTIN: Actin
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10354
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    ASMA; ACTA; Alpha actin 1
    Approved Symbol:
    ACTA1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 13
    Human (de-) phosphorylation sites: 13; 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):

  • 4-(17-Hydroxy-5,12-Dimethyl-3-Oxo-2,16-Dioxabicyclo[13.3.1]Nonadeca-4,8,10-Trien-17-Yl)-2-Thiazolidinone(db);
  • 4-Methyl-Histidine(db);
  • Adenosine-5'-Diphosphate(db);
  • Aplyronine A(db);
  • Jaspisamide A(db);
  • Kabiramide C(db);
  • LATRUNCULIN B(db);
  • Phosphoaminophosphonic Acid-Adenylate Ester(db);
  • Reidispongiolide A(db);
  • Reidispongiolide C(db);
  • Sphinxolide B(db);
  • Sucrose(db);
  • Tmr(db);
  • Ulapualide A(db)

    Associated Genetic Diseases:

  • Myopathy, actin, congenital, with cores(Pd);
  • Myopathy, actin, congenital, with excess of thin myofilaments(Pd);
  • Myopathy, congenital, with fiber-type Disproportion 1(Pd);
  • Nemaline myopathy 3(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00030 Entrez Gene ID: 58 OMIM ID: 102610 Swissprot Accession: P68133;