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Description for Protein ATP2C1

ATPase, Ca++ transporting, type 2C, member 1
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(membrane: 1; platelet: 16)
Summary:
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [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:
    K01537
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    ATP-dependent Ca(2+) pump; ATPase, Ca(2+)-sequestering; Secretory pathway Ca2+/Mn2+ ATPase; EC 3.6.3.8; PMR1L; Calcium-transporting ATPase 2C1 isoform 1c; Calcium-transporting ATPase 2C1 isoform 1d; Calcium-transporting ATPase 2C1 isoform 1b; Calcium-transporting ATPase 2C1 isoform 1a; ATP2C1b; ATPase 2C1; ATP dependent Ca2+ pump PMR1; HUSSY 28; ATPase Ca(2+) transporting type 2C, member 1; HHD; BCPM; PMR1; SPCA1; KIAA1347; Calcium-transporting ATPase 2C1; ATP2C1a
    Approved Symbol:
    ATP2C1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; 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):

  • Calcium(db);
  • Desflurane(db);
  • Enflurane(db);
  • Halothane(db);
  • Isoflurane(db);
  • Methoxyflurane(db);
  • Sevoflurane(db)


    Associated Genetic Diseases:

  • Hailey-Hailey disease(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 4 : 8
  • Isoform 3 : 8
  • Isoform 2 : 7
  • Isoform 1 : 8
  • Additional Identifiers:

    HPRD: 05089 Entrez Gene ID: 27032 OMIM ID: 604384 Swissprot Accession: P98194