ATPase, Cu++ Transporting Beta Polypeptide (ATP7b)

PWD; WC1; WD; WND; Wilson Disease Protein; Copper pump 2; Wilson disease-associated protein

SPN	Q425
HGNC	870
MGI	103297
PubMed	12557139
RGD	2180
UniProt	P35670
Wiki	ATP7b

ATP7b 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.ATP7B gene was 78% in the transduction region, 89% in the channel/phosphorylation regions, and 79% in the ATP-binding region. The predicted length of the gene product was 1,411 amino acids for ATP7B compared with 1,500 amino acids for MNK.

Reference

"Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions."
Hum. Mol. Genet. 3:1647-1656(1994) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 13."
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]

"Cloning and characterization of the promoter region of the Wilson disease gene."
Biochem. Biophys. Res. Commun. 259:206-211(1999) [PubMed] [Europe PMC] [Abstract]

"The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene."
Nat. Genet. 5:327-337(1993) [PubMed] [Europe PMC] [Abstract]

"The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene."
Nat. Genet. 5:344-350(1993) [PubMed] [Europe PMC] [Abstract]

"Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease."
Biochem. Biophys. Res. Commun. 197:271-277(1993) [PubMed] [Europe PMC] [Abstract]

"The Wilson disease gene: spectrum of mutations and their consequences."
Nat. Genet. 9:210-216(1995) [PubMed] [Europe PMC] [Abstract]

Erratum
Nat. Genet. 9:451-451(1995)

"Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments."
Biochem. J. 326:897-902(1997) [PubMed] [Europe PMC] [Abstract]

"Localization of the Wilson's disease protein product to mitochondria."
Proc. Natl. Acad. Sci. U.S.A. 95:6004-6009(1998) [PubMed] [Europe PMC] [Abstract]

"The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein."
J. Biol. Chem. 278:41593-41596(2003) [PubMed] [Europe PMC] [Abstract]

"Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A."
J. Biol. Chem. 281:14006-14014(2006) [PubMed] [Europe PMC] [Abstract]

"Interactions between copper-binding sites determine the redox status and conformation of the regulatory N-terminal domain of ATP7B."
J. Biol. Chem. 285:6327-6336(2010) [PubMed] [Europe PMC] [Abstract]

"Metal binding domains 3 and 4 of the Wilson disease protein: solution structure and interaction with the copper(I) chaperone HAH1."
Biochemistry 47:7423-7429(2008) [PubMed] [Europe PMC] [Abstract]

"Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations."
Am. J. Hum. Genet. 57:1318-1324(1995) [PubMed] [Europe PMC] [Abstract]

"Efficient detection of mutations in Wilson disease by manifold sequencing."
Genomics 37:303-309(1996) [PubMed] [Europe PMC] [Abstract]

"Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients."
Hum. Genet. 98:640-642(1996) [PubMed] [Europe PMC] [Abstract]

"High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease."
J. Med. Genet. 33:521-523(1996) [PubMed] [Europe PMC] [Abstract]

"Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses."
Am. J. Hum. Genet. 61:317-328(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel missense mutation in Wilson's disease gene."
Chin. Med. J. 110:887-890(1997) [PubMed] [Europe PMC] [Abstract]

"24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease."
Hum. Mutat. 10:84-85(1997) [PubMed] [Europe PMC] [Abstract]

"A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts."
J. Invest. Dermatol. 108:35-39(1997) [PubMed] [Europe PMC] [Abstract]

"His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype."
Eur. J. Hum. Genet. 6:616-623(1998) [PubMed] [Europe PMC] [Abstract]

"Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups."
Hum. Mutat. 11:145-151(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease."
Hum. Mutat. 11:275-278(1998) [PubMed] [Europe PMC] [Abstract]

"Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population."
Hum. Mutat. Suppl. 1:S320-S322(1998) [PubMed] [Europe PMC] [Abstract]

"Further delineation of the molecular pathology of Wilson disease in the Mediterranean population."
Hum. Mutat. 12:89-94(1998) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of Wilson disease in Taiwan and description of six new mutations."
Hum. Mutat. 12:370-376(1998) [PubMed] [Europe PMC] [Abstract]

"Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients."
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 16:91-93(1999) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis in patients with Wilson disease: identification of 4 novel mutations."
Hum. Mutat. 14:88-88(1999) [PubMed] [Europe PMC] [Abstract]

"Molecular characterization of Wilson disease in the Sardinian population -- evidence of a founder effect."
Hum. Mutat. 14:294-303(1999) [PubMed] [Europe PMC] [Abstract]

"A study of Wilson disease mutations in Britain."
Hum. Mutat. 14:304-311(1999) [PubMed] [Europe PMC] [Abstract]

"The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease."
J. Med. Genet. 36:174-174(1999) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations."
J. Med. Genet. 36:833-836(1999) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis and diagnosis in Japanese patients with Wilson's disease."
Pediatr. Int. 41:409-413(1999) [PubMed] [Europe PMC] [Abstract]

"Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations."
Genet. Test. 4:399-402(2000) [PubMed] [Europe PMC] [Abstract]

"High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study."
Hepatology 32:1329-1336(2000) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease."
Hum. Mutat. 15:454-462(2000) [PubMed] [Europe PMC] [Abstract]

"Novel mutations of the ATP7B gene in Japanese patients with Wilson disease."
J. Hum. Genet. 45:86-91(2000) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association."
J. Hum. Genet. 45:275-279(2000) [PubMed] [Europe PMC] [Abstract]

"Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease."
Hum. Mutat. 17:156-156(2001) [PubMed] [Europe PMC] [Abstract]

"High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis."
J. Hepatol. 35:575-581(2001) [PubMed] [Europe PMC] [Abstract]

"Molecular diagnosis of Wilson disease."
Mol. Genet. Metab. 72:223-230(2001) [PubMed] [Europe PMC] [Abstract]

"Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene."
Eur. J. Pediatr. 161:124-126(2002) [PubMed] [Europe PMC] [Abstract]

"Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease."
Genet. Med. 4:43S-48S(2002) [PubMed] [Europe PMC] [Abstract]

"Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B."
Hum. Mutat. 20:260-266(2002) [PubMed] [Europe PMC] [Abstract]

"Two families with Wilson disease in which siblings showed different phenotypes."
J. Hum. Genet. 47:543-547(2002) [PubMed] [Europe PMC] [Abstract]

"Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease."
Clin. Genet. 64:479-484(2003) [PubMed] [Europe PMC] [Abstract]

"A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease."
Eur. Neurol. 51:52-54(2004) [PubMed] [Europe PMC] [Abstract]

"Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients."
Hum. Mutat. 23:398-398(2004) [PubMed] [Europe PMC] [Abstract]

"Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation."
Neurology 63:1982-1983(2004) [PubMed] [Europe PMC] [Abstract]

"Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease."
World J. Gastroenterol. 10:590-593(2004) [PubMed] [Europe PMC] [Abstract]

"Wilson disease: high prevalence in a mountainous area of Crete."
Ann. Hum. Genet. 69:268-274(2005) [PubMed] [Europe PMC] [Abstract]

"Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype."
Clin. Genet. 67:443-445(2005) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of Wilson disease in the Spanish population -identification of a prevalent substitution and eight novel mutations in the ATP7B gene."
Clin. Genet. 68:61-68(2005) [PubMed] [Europe PMC] [Abstract]

"Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population."
Clin. Genet. 68:474-476(2005) [PubMed] [Europe PMC] [Abstract]

"Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease."
Clin. Genet. 68:524-532(2005) [PubMed] [Europe PMC] [Abstract]

"Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry."
Hum. Mutat. 26:280-280(2005) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease."
Mol. Genet. Metab. 86:277-285(2005) [PubMed] [Europe PMC] [Abstract]

"Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease."
Clin. Genet. 72:264-267(2007) [PubMed] [Europe PMC] [Abstract]

"New mutations in the Wilson disease gene, ATP7B: implications for molecular testing."
Genet. Test. 12:139-145(2008) [PubMed] [Europe PMC] [Abstract]

"Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system."
Hum. Mutat. 29:491-501(2008) [PubMed] [Europe PMC] [Abstract]

"Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients."
BMC Pediatr. 11:56-56(2011) [PubMed] [Europe PMC] [Abstract]

"Diagnostic challenges of Wilson's disease presenting as acute pancreatitis, cholangitis, and jaundice."
World J. Hepatol. 5:649-653(2013) [PubMed] [Europe PMC] [Abstract]