copper transporting ATPase-2; Cu+2-transporting ATPase beta polypeptide; copper pump-2; WIlson's disease-associated protein (ATP7B, PWD, WC1, WND)
Jump to navigation
Jump to search
Function
- role in the export of copper out of the cells, efflux of hepatic copper into the bile
- isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kD form
- interacts with COMMD1/MURR1
ATP + H2O + Cu+2(In) <--> ADP + phosphate + Cu+2(out)
Structure
- monomer
- interacts with COMMD1/MURR1
- belongs to the cation transport ATPase (P-type) family, type IB subfamily
- contains 6 HMA domains
Compartment
- Golgi, trans-Golgi network membrane
- predominantly found in the trans-Golgi network
- not redistributed to the plasma membrane in response to elevated copper levels
- isoform 2: cytoplasm
- WND/140 kDa: mitochondrion
Alternative splicing
named isoforms=4
Expression
- most abundant in liver & kidney
- also found in brain
- isoform 2 is expressed in brain but not in liver
- cleaved form WND/140 kD is found in liver cell lines & other tissues
Pathology
- defects in ATP7B are the cause of Wilson's disease
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P35670.html
- ↑ genedis; Note: Wilson's disease website http://life2.tau.ac.il/genedis/Tables/Wilson/wilson.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP7B