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Description for Protein ATP7B

ATPase, Cu++ transporting, beta polypeptide
5 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [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:
    WD protein; ATPase, Cu++ transporting, beta polypeptide isoform b; ATPase Cu(2+) transporting beta polypeptide; Copper transporting ATPase 2; Copper pump 2; Wilson disease associated protein; PWD; WC1; WND; EC 3.6.3.4; ATPase, Cu++ transporting, beta polypeptide isoform a
    Approved Symbol:
    ATP7B
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 6
    Human (de-) phosphorylation sites: 6; 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:

  • Wilson disease(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 7
    • Additional Identifiers:

    HPRD: 06050 Entrez Gene ID: 540 OMIM ID: 606882 Swissprot Accession: P35670;