Wilson disease protein

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ATPase, Cu++ transporting, beta polypeptide
PDB rendering based on 2arf.
Available structures: 2arf, 2ew9
Identifiers
Symbol(s)	ATP7B; PWD; WC1; WD; WND
External IDs	OMIM: 606882 MGI: 103297 HomoloGene: 20063
Gene ontology Molecular Function: • nucleotide binding • magnesium ion binding • catalytic activity • copper-exporting ATPase activity • copper ion transmembrane transporter activity • copper ion binding • protein binding • ATP binding • ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism • hydrolase activity • hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances • metal ion binding • metal ion transmembrane transporter activity Cellular Component: • membrane fraction • late endosome • trans-Golgi network • integral to plasma membrane • membrane • integral to membrane • cytoplasmic membrane-bound vesicle • basolateral plasma membrane • perinuclear region of cytoplasm Biological Process: • transport • ion transport • copper ion transport • cellular copper ion homeostasis • cellular zinc ion homeostasis • lactation • metabolic process • copper ion import • intracellular copper ion transport • metal ion transport • response to copper ion • sequestering of calcium ion
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	540	11979
Ensembl	ENSG00000123191	ENSMUSG00000006567
Uniprot	P35670	Q64446
Refseq	NM_000053 (mRNA) NP_000044 (protein)	NM_007511 (mRNA) NP_031537 (protein)
Location	Chr 13: 51.41 - 51.45 Mb	Chr 8: 23.46 - 23.53 Mb
Pubmed search	[1]	[2]

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).^[1]

Contents 1 See also 2 External links 3 References 4 Further reading

[edit] See also

• Wilson disease

[edit] External links

• MeSH Wilson+disease+protein

[edit] References

[edit] Further reading

v • d • e Acid anhydride hydrolases: ATPases (EC 3.6.3-3.6.4) 3.6.3 Cu++ (Menkes, Wilson) - Ca+ (SERCA, Plasma membrane) - Na+/K+ - H+/K+ - ATP synthase - H+ (F-type) - H+ (V-type) 3.6.4 Dynein - Kinesin - Myosin