Wilson disease protein

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ATPase, Cu++ transporting, beta polypeptide
PBB Protein ATP7B image.jpg
PDB rendering based on 2arf.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ATP7B ; PWD; WC1; WD; WND
External IDs OMIM606882 MGI103297 HomoloGene20063 GeneCards: ATP7B Gene
EC number 3.6.3.4
RNA expression pattern
PBB GE ATP7B 204624 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 540 11979
Ensembl ENSG00000123191 ENSMUSG00000006567
UniProt P35670 Q64446
RefSeq (mRNA) NM_000053 NM_007511
RefSeq (protein) NP_000044 NP_031537
Location (UCSC) Chr 13:
52.51 – 52.59 Mb
Chr 8:
21.99 – 22.06 Mb
PubMed search [1] [2]

Wilson disease protein (also called ATP7B, full name ATPase, Cu++ transporting, beta polypeptide) is an ATPase that transports copper.

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 two 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's disease.[1]

Interactions[edit]

Wilson disease protein has been shown to interact with ATOX1[2][3] and GLRX.[4]

See also[edit]

References[edit]

  1. ^ "Entrez Gene: ATP7B ATPase, Cu++ transporting, beta polypeptide". 
  2. ^ Larin, D; Mekios C, Das K, Ross B, Yang A S, Gilliam T C (Oct 1999). "Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p". J. Biol. Chem. (UNITED STATES) 274 (40): 28497–504. doi:10.1074/jbc.274.40.28497. ISSN 0021-9258. PMID 10497213. 
  3. ^ Hamza, I; Schaefer M, Klomp L W, Gitlin J D (Nov 1999). "Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 96 (23): 13363–8. doi:10.1073/pnas.96.23.13363. ISSN 0027-8424. PMC 23953. PMID 10557326. 
  4. ^ Lim, Chris M; Cater Michael A, Mercer Julian F B, La Fontaine Sharon (Sep 2006). "Copper-dependent interaction of glutaredoxin with the N termini of the copper-ATPases (ATP7A and ATP7B) defective in Menkes and Wilson diseases". Biochem. Biophys. Res. Commun. (United States) 348 (2): 428–36. doi:10.1016/j.bbrc.2006.07.067. ISSN 0006-291X. PMID 16884690. 

External links[edit]

Further reading[edit]