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Description for Protein ATP2A1

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
4 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(membrane: 1; platelet: 3)
Summary:
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.6.3.8
    KEGG - Orthology:
    K05853
    KEGG - Pathway(s):
    hsa04020; hsa05010
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    SERCA1; ATPase Ca(2+) transporting fast twitch 1; Calcium pump 1; SR Ca(2+) ATPase 1; Endoplasmic reticulum class 1/2 Ca(2+) ATPase; Calcium transporting ATPase sarcoplasmic reticulum, type fast twitch skeletal muscle isoform; Sarcoplasmic reticulum Ca(2+) ATPase 1; ATPase, Ca++ transporting, fast twitch 1 isoform b; ATPase, Ca++ transporting, fast twitch 1 isoform a
    Approved Symbol:
    ATP2A1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; 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):

  • (6AR,11AS,11BR)-10-ACETYL-9-HYDROXY-7,7-DIMETHYL-2,6,6A,7,11A,11B-HEXAHYDRO-11H-PYRROLO[1',2':2,3]ISOINDOLO[4,5,6-CD]INDOL-11-ONE(db);
  • 2,5-DI-(TERT-BUTYL)-1,4,BENZOHYDROQUINONE(db);
  • Adenosine-5'-Diphosphate(db);
  • Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate(db);
  • Tetrafluoroaluminate Ion(db)

    Associated Genetic Diseases:

  • Brody myopathy(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 7
  • Isoform 1 : 7
    • Additional Identifiers:

    HPRD: 00157 Entrez Gene ID: 487 OMIM ID: 108730 Swissprot Accession: B3KY17; O14983; Q7Z675;