ATP7b ist ein Gen, das durch das Symbol ATP7B kodiert wird. Andere Namen sind: Copper-transporting ATPase 2; Copper pump 2; Wilson disease-associated protein; PWD; WC1; WND. ATP7b hat eine Masse von 157.26kDa, eine Aminosäurelänge von 1465, und ist an Wilson disease beteiligt.
Wir bieten 11 antikörper gegen ATP7b, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ELISA, ICC/IF, FC and IP mit Proben abgeleitet von Human, Maus, Ratte, Rind, Schwein, Schaf und Goat.
Gen- und Proteininformationen
UniProt Zusammenfassung
Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload.
Entrez Zusammenfassung
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).
Gewebespezifität
Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues.
Rolle bei Krankheiten
Wilson disease: An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis.
Sequenzähnlichkeiten
Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily.
Posttranslationale Modifikation
Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form.
Zellort
Golgi apparatus > trans-Golgi network membrane. Late endosome.
Predominantly found in the trans-Golgi network (TGN). Localized in the trans-Golgi network under low copper conditions, redistributes to cytoplasmic vesicles when cells are exposed to elevated copper levels, and then recycles back to the trans-Golgi network when copper is removed (PubMed:10942420).
