Wilson disease-associated protein also known as copper-transporting ATPase 2 and copper pump 2 is a protein that in humans is encoded by the ATP7B gene. Wilson disease protein is an ATPase that transports copper.
Function [ edit ]
The 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 ] and [3 ] GLRX. [4 ]
See also [ edit ]
References [ edit ]
^ "Entrez Gene: ATP7B ATPase, Cu++ transporting, beta polypeptide".
^ Larin D, Mekios C, Das K, Ross B, Yang A, Gilliam T (Oct 1999). "Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p". J. Biol. Chem. 274 (40): 28497–504. doi: 10.1074/jbc.274.40.28497. PMID 10497213.
^ Hamza I, Schaefer M, Klomp L, Gitlin J (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. 96 (23): 13363–8. doi: 10.1073/pnas.96.23.13363. PMC 23953. PMID 10557326.
^ Lim C, Cater M, Mercer J, La Fontaine S (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. 348 (2): 428–36. doi: 10.1016/j.bbrc.2006.07.067. PMID 16884690.
Further reading [ edit ]
Harris E (2000). "Cellular copper transport and metabolism.". Annu. Rev. Nutr. 20: 291–310. doi: 10.1146/annurev.nutr.20.1.291. PMID 10940336.
Cox D, Moore S (2003). "Copper transporting P-type ATPases and human disease.". J. Bioenerg. Biomembr. 34 (5): 333–8. doi: 10.1023/A:1021293818125. PMID 12539960.
Lutsenko S, Efremov R, Tsivkovskii R, Walker J (2003). "Human copper-transporting ATPase ATP7B (the Wilson's disease protein): biochemical properties and regulation.". J. Bioenerg. Biomembr. 34 (5): 351–62. doi: 10.1023/A:1021297919034. PMID 12539962.
Chappuis P, Bost M, Misrahi M, Duclos-Vallée J, Woimant F (2006). "[Wilson disease: clinical and biological aspects]". Ann. Biol. Clin. (Paris) 63 (5): 457–66. PMID 16230279.
La Fontaine S, Mercer J (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 E, 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. PMC 2025638. PMID 17562324.
External links [ edit ]
2arf: Solution structure of the Wilson ATPase N-domain in the presence of ATP
2ew9: Solution structure of apoWLN5-6
F-, V-, and A-type ATPase (3.A.2)
P-type ATPase (3.A.3)
+/K + transporting, nongastric: ATP12A
++ transporting: ATP7A