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Description for Protein ATP7A

ATPase, Cu++ transporting, alpha polypeptide
4 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(membrane: 1)
Summary:
This gene encodes a transmembrane protein that functions in copper transport across membranes. The protein localizes to the trans-Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. The protein relocalizes to the plasma membrane under conditions of elevated extracellular copper and functions in the efflux of copper from cells. Mutations in this gene result in Menkes disease, X-linked cutis laxa, and occipital horn syndrome. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    3.6.3.4
    KEGG - Orthology:
    K01533
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    ATPase Cu(2+) transporting alpha polypeptide; Copper transporting ATPase 1; Copper pump 1; MNK; MC1; EC 3.6.3.4
    Approved Symbol:
    ATP7A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 21
    Human (de-) phosphorylation sites: 21; 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:

  • Cutis laxa, X-linked(Pd);
  • Menkes disease(Pd);
  • Menkes disease, copper-replacement responsive(Pd);
  • Menkes disease, mild(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 7
  • Additional Identifiers:

    HPRD: 02054 Entrez Gene ID: 538 OMIM ID: 300011 Swissprot Accession: Q59HD1Q04656Q762B6