Wilson disease protein

ATPase, Cu++ transporting, beta polypeptide
PDB rendering based on 2arf.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 2arf​, 2ew9​
Identifiers
Symbols	ATP7B ; PWD; WC1; WD; WND
External IDs	Template:OMIM5 Template:MGI HomoloGene: 20063
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE ATP7B 204624 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Wilson disease protein (also called ATP7B) 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 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).

See also

• Wilson disease

External links

• Wilson+disease+protein at the US National Library of Medicine Medical Subject Headings (MeSH)

Further reading

• Harris ED (2000). "Cellular copper transport and metabolism". Annu. Rev. Nutr. 20: 291–310. doi:10.1146/annurev.nutr.20.1.291. PMID 10940336.
• Cox DW, Moore SD (2003). "Copper transporting P-type ATPases and human disease". J. Bioenerg. Biomembr. 34 (5): 333–8. PMID 12539960.
• Lutsenko S, Efremov RG, Tsivkovskii R, Walker JM (2003). "Human copper-transporting ATPase ATP7B (the Wilson's disease protein): biochemical properties and regulation". J. Bioenerg. Biomembr. 34 (5): 351–62. PMID 12539962.CS1 maint: Multiple names: authors list (link)
• Chappuis P, Bost M, Misrahi M; et al. (2006). "[Wilson disease: clinical and biological aspects]". Ann. Biol. Clin. (Paris). 63 (5): 457–66. PMID 16230279.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• La Fontaine S, Mercer JF (2007). "Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis". Arch. Biochem. Biophys. 463 (2): 149–67. doi:10.1016/j.abb.2007.04.021. PMID 17531189.
• Lutsenko S, LeShane ES, Shinde U (2007). "Biochemical basis of regulation of human copper-transporting ATPases". Arch. Biochem. Biophys. 463 (2): 134–48. doi:10.1016/j.abb.2007.04.013. PMID 17562324.CS1 maint: Multiple names: authors list (link)