Property Summary

NCBI Gene PubMed Count 258
PubMed Score 774.08
PubTator Score 753.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma 2.900 5.8e-08
osteosarcoma -1.644 3.7e-05
atypical teratoid/rhabdoid tumor 1.300 5.8e-05
intraductal papillary-mucinous neoplasm ... 2.600 1.9e-03
lung cancer 1.200 3.5e-03
cystic fibrosis -1.400 2.6e-03
ovarian cancer -2.700 3.0e-11

 OMIM Phenotype (1)

Gene RIF (212)

PMID Text
26829729 7 novel mutations, c.3871G>A(p.A1291T), c.2593_2594insGTCA, c.2790_2792delCAT, c.3661_3663delGGG, c.3700delG, c.4094_4097delCTGT, and IVS6+1G>A, are associated with Wilson's disease.
26797276 Metal-dependent movement of the first four metal-binding domains in ATP7B may be a trigger that initiates the overall catalytic cycle.
26782526 24 ATP7B distinct mutations, seven of which are novel, have been found in 35 patients with hepatolenticular degeneration.
26483271 With the capability of generating relatively higher throughput in a short time period, the NGS assay is a viable alternative to Sanger sequencing for detecting ATP7B mutations causally linked to Wilson disease in the clinical diagnostic laboratory
26253413 Novel mutation of the ATP7B gene was found in Chinese families with pre-symptomatic Wilson's disease.
26215059 Nine out of the thirty-two pediatric Turkish WD patients had no mutations in the ATP7B gene.
26207595 analysis of the geographic distribution of ATP7B mutations in Wilson disease [review]
26182283 The ATP7B gene testing for the boy, his sister, and their parents detected two novel missense mutations in the boy and his sister, i.e., compound heterozygous mutations in exon 7 and exon 13
26032686 Extrinsic expressing WT ATP7B reduced CuCl2-induced copper accumulation and enhanced cellular copper tolerance by accelerating copper excretion, which was selectively compromised by R778L and P992L mutations.
26004889 Wilson disease causing p.T788I, p.V1036I and p.R1038G-fsX83 mutations lead to functional deficiency in ATP7B protein.
25982861 The detection of new mutations in the ATP7B gene can aid in genetic counseling and clinical or/prenatal diagnosis.
25900953 The present results demonstrate the design and evaluation of a low-density microarray for the detection of 62 mutations in ATP7B gene, and show that a microarray based approach can be cost-effective for detecting a large number of mutations simultaneously
25666620 showed that hyperphosphorylation occurs even when ATP7B is restricted to the trans-Golgi network
25497208 Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins
25465132 Screening for the two exons 14 and 18 of the ATP7B gene is important in Egyptian patients especially in suspected patients without hepatic manifestations.
25390358 association between the c.2299insC mutation and hepatic phenotype and between the p. Ala1003Thr mutation and neurologic phenotype in Wilson disease in a large Lebanese family
25365615 The purpose of this study was to determine a haplotype analysis of two unrelated Wilson disease patients with the same missense mutation
25253690 Data show that nanobodies detected transient interactions between the metal-binding domains (MBDs) and modulated intracellular localization of Cu(I)-ATPase ATP7B.
25089800 Study identifies three novel mutations in ATP7B, confirms Arg778Leu as the most frequent mutation in Chinese Wilson's disease (WD) patients, and demonstrates that Ile1148Thr was another hotspot mutation in WD patients from Southern China
25086856 Wilson disease patients with the splice-site mutation show severe clinical manifestations, indicating that aberrant transcripts have important implications for Wilson disease phenotype.
24878384 Identification of mutations and polymorphisms of the ATP7B gene which may contribute to the pathogenesis of Wilson disease.
24852429 ATP7B gene might be considered as predictive markers for the efficacy evaluation of platinum-based chemotherapy in Chinese Han lung cancer patients
24706876 revealed an unexpected role for TM1/TM2 in copper-regulated trafficking of ATP7B and defined a unique class of WD mutants that are transport-competent but trafficking-defective
24253677 The functional survey of amino acid changes in the ATP7B protein is provided herein, and this bioinformatic method can furnish information about novel ATP7B mutations. Furthermore, the same approach can be applied to other uncharacterized proteins.
24094725 different coding mutations were detected in our patient pool including 21 novel and 37 reported variants in Indian patients with Wilson disease
24023303 LOH at the ATP7B locus might be useful in predicting chemotherapy response and needs further evaluation
23982005 Almost half of the mutations of the ATP7B gene were located at exons 14 and 15, consequently the identification of these most prevalent mutations provide basis to design appropriate regional screening strategies for the genetic diagnosis of Wilson disease
23963605 Duodenal CTR1 mRNA and protein expression was decreased in Wilson's disease patients, while ATP7A mRNA and protein production was increased. This can be a defense mechanism against systemic copper overload resulting from functional impairment of ATP7B.
23948886 These data suggest that the genetic variation in cis-regulatory elements located in non-coding regions can have a role in determining ATP7B functionality and account for some of the Alzheimer disease missing hereditability.
23843956 The genetic cause of 18 Chinese families with Wilson's disease and ATP7B deficiency-induced apoptosis may result from the imbalance in cell cycle and lipid metabolism pathway.
23830383 data also showed that the genotype frequency distribution of the ATP7B c.1366 G greater than C polymorphism (rs1801244, Val456Leu) differed significantly between the alzheimers disease patients and the normal subjects
23803742 the CXXC motif in the sixth MBD and the catalytic activity of ATP7B are required for cDDP-induced trafficking as they are for Cu-induced redistribution of ATP7B
23789284 no correlation between different genotypes and phenotypic feature of WD
23760784 Individuals who were GG homozygous for ATP7B rs7323774 SNP had higher levels of serum-free copper, and this condition was more pronounced in the AD individuals.
23751120 Cisplatin binds to ATP7B at the copper-binding sites and is an essential step in cisplatin detoxification.
23650006 This review describes mutations of ATP7B in Wilson disease.
23518715 The overall frequency of mutation detection for ATP7B in patients with Wilson's disease is 98%; the likelihood of mutations in genes other than ATP7B causing a Wilson's disease phenotype is therefore very low.
23333878 Five novel mutations were found in unrelated Turkish Wilson disease patients.
23275100 The novel c.3605 C>G mutation in ATP7B is one of the molecular mechanisms of Wilson disease
23235335 database was established to summarize all ATP7B mutations, including those reported previously and those identified in this study. Popular algorithms were used to predict the functional effects of these mutations
23221602 Lack of statistically significant differences between ATP7B positive and negative cases with respect to prognosis of patients with ovarian carcinoma treated with a platinum-taxane combination regimen.
23219664 These results demonstrate that mutational analysis is determinant for carrier identification and diagnosis of atypical Wilson's disease patients.
23159873 A new ATP7B gene missense mutation, c.2335T>G (p.Trp779Gly), with severe neuropsychiatric phenotype was identified in two unrelated Iranian families with Wilson disease.
22950421 study provides novel insights that confirm the role of ATP7B as a potential genetic risk factor for Alzheimer disease
22898812 structural changes that specifically alter the inter-domain contacts initiate exit of ATP7B from the TGN, whereas increased phosphorylation may be needed to maintain an open interface between the domains.
22774841 Despite extensive pedigree studies of Wilson's Disease leading back to the local founder family, the authors were unable to find a single defining mutation of the ATP7B gene.
22763723 Description of a novel mutation in the ATP7B gene, occurring in Wilson disease patients originated from a distinct geographical area in Austria associated with a variable course of the disease.
22720308 findings show H1069Q mutation is highly prevalent in Romanian Wilson's disease patients and first degree relatives, similar to other central and continental western European populations
22720273 The potential implications of being a heterozygote for Wilson disease in the context of Alagille syndrome are discussed, with a mutation in the Wilson disease gene, ATP7B.
22692182 The ATP7B core (residues 643-1377) homology was modelled using the recent structure of the bacterial copper-ATPase LCopA as a template.
22677543 Among our 112 WD unrelated patients, 83 different ATP7B gene mutations were identified, 27 of which were novel.
22574136 thermodynamic parameters of copper (Cu) transfer from the human copper chaperone Atox1 to the fourth metal-binding domain of the Wilson disease protein
22484412 mutation analysis of the ATP7B gene in a group of 118 Wilson disease families (236 chromosomes) prevalently of Italian origin
22459168 cDDP binds to the CXXC motifs of ATP7B and that this interaction is essential to the trafficking of ATP7B and to its ability to mediate resistance to cDDP.
22356903 This study demonstrated the presence of loci of susceptibility for AD in the WD ATP7B gene, supporting a role of copper dysfunction in contributing or accelerating neurodegenerative processes leading to AD.
22258517 This review reveled that ATP7B gene as potential harbor of rare variants.
22240481 Variants in ATP7B associated with Wilson disease disrupt the protein's transport activity, result in its mislocalization, and reduce its stability.
22145502 Sequencing of the exon 8 of the ATP7B gene is insufficient for the diagnostic service testing of Wilson's disease in Thais
22130675 Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B.
22075048 The c.2697_2723del27 deletion mutation in exon 11 in a Korean family has not yet been reported as a causative mutation of Wilson disease and is an in-frame deletion, not expected to lead to a frameshift.
22046264 demonstrate that a long flexible loop branched to the binding domain has the capacity to disrupt the interaction between Mg(2+)-ATP complex and the N-domain, and propose a role for this loop in the allosteric regulation of the nucleotide binding process.
21832955 early clinical symptoms and the evolution of Wilson disease in patients carrying the ATP7B L708P mutant allele
21796144 38 different Wilson disease-causing mutations were identified, including 10 novel mutations, missense mutations, nonsense mutations, splice site mutations and frameshift mutations in Southern Chinese patients.
21645214 The presenting phenotype strongly affects the clinical outcome of Wilson's disease, and is related to the ATP7B mutation type and location.
21454443 Our results demonstrated that four Wilson disease-associated missense mutations of ATP7B behaved in a wild-type manner in all our assays, raising the possibility that several may not be disease-causing mutations.
21406592 Data demonstrate that the 2623A/G polymorphism drastically alters the intracellular properties of ATP7B, whereas copper reverses the effects.
21398519 Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B.
21242307 Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B.
21219664 We identified 14 novel mutations and found that the spectrum of mutations of ATP7B in China is quite distinct from that of Western countries.
21189263 PKD plays a key role in copper-dependent serine phosphorylation, permitting high levels of ATP7B protein expression and trafficking
21117320 Disturbances of ATP7A and ATP7B function caused by mutations lead to severe metabolic diseases Menkes and Wilson diseases, respectively.
21115196 MNK and WND were differentially localised within the placenta.
21034864 To identify the mutations in ATP7B in Thai patients with Wilson disease, DHPLC analysis was applied to detect mutations and polymorphisms of the entire ATP7B gene in 19 Thai patients with Wilson disease.
20965182 charge transfer in ATP7B
20931554 Several different mutations are demonstrated in the Wilson disease gene ATP7B.
20931554 Observational study of gene-disease association. (HuGE Navigator)
20799727 Copper transfer to and between the N-terminal domains of the Wilson Cu-ATPase occurs via protein interactions that are facilitated by the flexibility of the linkers and the motional freedom of the domains with respect to each other.
20739809 The H1069Q, R778L, and I1102T mutations of ATP7B were absent in all the patients and in 16 parents and siblings
20708958 Wilson's disease is a rare autosomal recessive disorder of copper transport due to mutations in the ATP7B gene, responsible for transport of copper into bile from hepatocytes and its incorporation into apoceruloplasmin--REVIEW
20566629 Role of glutaredoxin1 and glutathione in regulating the activity of the copper-transporting P-type ATPases, ATP7A and ATP7B.
20491539 Observational study of gene-disease association. (HuGE Navigator)
20485189 We hereby report the association of liver disease with homozygous mutations in the conserved ATP hinge region of exon 18 of the ATP7B gene.
20465995 Observational study of genetic testing. (HuGE Navigator)
20430895 Study of the role of five surface-exposed loops in copper incorporation by comparing the efficiencies of human ATP7B.
20362556 ATP7B overexpression provides an important selection advantage to mesenchymal stem cells in high copper microenvironments.
20333758 Data conclude that variants found to negatively affect function likely contribute to the Wilson disease phenotype in patients.
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20124325 ATP7B mutation is associated with increased ceruloplasmin and Wilson disease.
20082719 Protein-truncating ATP7B mutations (SMs) are associated with low serum ceruloplasmin oxidase activities and an early age of onset when compared to missense mutations (MMs).
20082719 Observational study of gene-disease association. (HuGE Navigator)
20045993 Observational study of gene-disease association. (HuGE Navigator)
20032459 Tight coupling between metal-binding domains suggests a mechanism by which small changes in individual sites result in stabilization of distinct conformations of the entire N-ATP7B and altered exposure of sites for interactions with regulatory proteins
19783880 The arche haplotype of the ATP7B gene in Korean patients with Wilson's disease may be 5-R778L-4 (D13S315.mutation.D13S316), and it might illustrate a founder effect.
19645496 Examination of ATP7B solution structure reveals possible mechanisms by which missense mutations in the actuator domain of ATP7B can adversely affect enzyme activity, eventually leading to Wilson disease.
19634275 Observational study of genetic testing. (HuGE Navigator)
19520855 conformational effects are important for copper dependence of phosphorylation and hydrolytic cleavage of ATP7B
19478447 Crystallization and preliminary X-ray studies of the N-domain of WND are reported.
19419418 carrier frequencies of the three most common mutations associated with WD in a Korean population
19419418 Observational study of genotype prevalence. (HuGE Navigator)
19416479 analysis of ATP7B mRNA revealed behavior of exon 1 upon amplification, suggesting that it could be inefficiently translated. Recombinant ATP7B lacking exon 1 traffics differently in renal and hepatic cells, but does not recapitulate endogenous phenotype
19371217 RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease are reported.
19296535 Increased levels of copper efflux transporter ATP7B are associated with colorectal cancer.
19181666 expressed the entire tail as a single construct in Escherichia coli and investigated its interaction with its copper chaperone (i.e. HAH1) by solution NMR spectroscopy
19141620 cisplatin binding to ATP7B and/or general changes in cellular copper homeostasis are likely contributors to the increased resistance to the drug.
19062534 Wide clinical variability was observed among individuals with the same ATP7B genotype, thus supporting the suggestion that modifying factors play an additional role in the pathogenesis of WD
19062534 Observational study of gene-disease association. (HuGE Navigator)
19046832 Mutation of ATP7B protein is responsible for Wilson disease.
19033537 Apical targeting and Golgi retention signals reside within a 9-amino acid sequence in the copper-ATPase, ATP7B.
18974300 Data suggest that translocation of ATP7B takes place independently of Rab7-regulated endosomal traffic, and that Murr1 plays a role in a later step of the copper excretion pathway but is not involved in the translocation of the Wilson disease protein.
18855987 High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.
18841562 Observational study of genetic testing. (HuGE Navigator)
18809983 The researchers found a new mutation that is associated with Wilson's disease.
18698682 There is concordance between ATP7B mutation and Wilson's disease (WD) phenotype within each family with > 1 member affected with WD.
18692069 These results provide biophysical characteristics that may be general to N-domains in other P(1B)-ATPases as well as identify changes that may be responsible for the H1069Q Wilson disease phenotype in vivo.
18688737 A quantitative relationship between mutated ATPase and Menkes/Wilson disease, is shown.
18652531 Estimation of WD incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercolator method based on the amplification refractory mutation system.
18637198 Wilson protein might play an important role in physiological sweat production.
18636185 Higher ATP7B expression is associated with platinum drug resistance in human non-small cell lung cancer xenografts.
18593893 The transcriptional status of four key genes, thymidylate synthase (TYMS), MORF-related gene X (MRGX), Bcl2-antagonist/killer (BAK), and ATPase, Cu(2+) transporting beta polypeptide (ATP7B), can accurately predict response to 5-FU.
18565219 Alterations in sub cellular localisation of transport proteins, ATP7A and ATP7B, may contribute to cisplatin resistance in ovarian cancer.
18558714 HAH1 forms a ocomplex with some domains of ATP7B, an interesting property of this class of proteins which have a signaling role in the function of the ATPases.
18521802 Observational study of gene-disease association. (HuGE Navigator)
18483695 Despite mutation heterogeneity in Egyptian children with Wilson disease, genotype-phenotype correlation analysis of the ATP7B gene seems to be promising in this population, as many patients carry homozygous mutations.
18373411 Mutation analysis was carried out on 300 Wilson disease patients of various origins, and new mutations not previously reported were identified.
18371106 Observational study of genetic testing. (HuGE Navigator)
18203200 A total of 11 missense variants of ATP7B, originally identified in WND patients, were examined for their capacity to functionally complement a yeast mutant strain in which the yeast gene ortholog, CCC2, was disrupted.
18180385 Results are consistent with an important function of ATP7B in the secretion of copper from the human mammary gland.
17949296 Observational study of genotype prevalence. (HuGE Navigator)
17944925 Antisense oligodeoxynucleotides transfection can inhibit the expression of ATP7B and increase the cisplatin sensitivity in SKOV3ip1 cells.
17919502 Implicate COMMD1 in the pathogenesis of Wilson's disease and indicate that COMMD1 exerts its regulatory role in copper homeostasis through the regulation of ATP7B stability.
17897870 A total of 23 distinct mutations were detected, and the frameshift 3402delC had the highest allelic frequency (31.7%) in wilson's disease of Brazil.
17897870 Observational study of gene-disease association. (HuGE Navigator)
17876883 Observational study of gene-disease association. (HuGE Navigator)
17876883 There is a significant correlation with hepatic manifestations of Wilson Disease between patients carrying the Arg778Leu mutation and those without it.
17823867 Genotype-phenotype correlation revealed that no particular phenotype could be assigned to a particular mutation and even same set of mutations in different patients showed different phenotypes.
17718866 this study reports the presence of a G691R mutation in exon 7 of the ATP7B gene of a Lebanese family with WD patients. All affected members were homozygous for this mutation and had liver disease ranging from subclinical hepatitis to advanced cirrhosis.
17717039 The underlying genetic defects correlate with the molecular functions of ATP7B and the clinical expression of Wilson'ss disease. Review.
17680703 Study describes the database developed for reporting of mutations in ATP7B, the gene defective in Wilson disease.
17660582 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
17634212 Observational study of genetic testing. (HuGE Navigator)
17587212 Observational study of genotype prevalence. (HuGE Navigator)
17587212 identified 28 different mutations in the ATP7B gene, including six novel variations, in 120 unrelated Korean patients with Wilson disease
17562324 A review of the structure, function and regulation of ATP7B.
17531189 Review of the localization and trafficking properties of ATP7B, and the molecular signals and posttranslational interactions that govern the trafficking activities.
17410460 All the patients with the homozygotic T1288R mutation in the present pedigree presented an hepatic phenotype without a neurological presentation.
17325640 This case report illustrates the utility of conformation-sensitive gel electrophoresis in analyzing mutations in the ATP7B gene to resolve diagnostic dilemmas arising in heterozygous carriers with low serum ceruloplamin.
17317524 phenotypes associated to these mutations confirm that neurological presentations associated with other mutations than p.H1069Q are also often late in their onset
17272994 Observational study of genotype prevalence. (HuGE Navigator)
17229731 the specific role of each metal binding domain is not conferred by its position within the intact N-domain of the Wilson disease protein but may be related to interactions with other domains and partner proteins
17196137 Arg778Leu is the hot point mutation of ATP7B gene in Hunan Han patients with Wilson' disease while exon 5 is not.
17171802 ATP7B protein is frequently overexpressed in gastric cardiac carcinomas, and correlated with the differentiation of cardiac carcinoma
17160357 An analysis was made of the frequencies of the most common mutations in Wilson disease.
17109627 ATP7B and WND are differentially regulated by the hormones insulin and oestrogen in human placental cells
16939419 Copper-chelation studies with mutant proteins clearly demonstrate a requirement for copper in ATP7B trafficking.
16884690 In this study, we describe the identification of glutaredoxin (GRX1) as an interacting partner of both ATP7A and ATP7B
16700326 Engraftment of transplanted cells, which express atp7b mRNA, repopulated the recipient liver with normal functional capacity.
16676348 These data suggest the existence of a mechanism that regulates ERK signaling via the C-terminus of ATP7B and the ATP7B-interacting hepatocytic PLZF.
16632204 Facile copper transfer between WLN1 and WLN4, first and fourth copper-binding domains, indicates the feasibility of copper transfer between these domains in vivo.
16571664 receptors of copper from HAH1 protein.
16554302 ATP7B interaction with p62 is a key component of the copper-induced trafficking pathway that delivers ATP7B to subapical vesicles of hepatocytes for the removal of excess copper into bile
16472602 Expression of wild-type and mutant ATP7B caused Chinese hamster ovary cells to accumulate copper in vesicles, which subsequently undergo exocytosis, releasing copper across the plasma membrane.
16416207 analysis of the Wilson disease mutations in the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase
16377579 The ATP7B is localized to the plasma membrane of both hepatocytes and biliary epithelial cells.
16310588 Observational study of gene-disease association. (HuGE Navigator)
16283883 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.
16230279 Wilson disease results from mutations of the ATP7B gene on chromosome 13.
16215951 Results suggest that WD pathogenesis relates little to the mutations of the promoter region in ATP7B gene in Chinese.
16211609 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
16088907 analysis of novel ATP7B mutations resulting in copper storage in liver and brain in Wilson disease
15967699 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15963506 The functional study of the Wilson ATPase in a purified, reconstituted system was carried out.
15681833 ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein and translocates copper from the cytosol to the late endosomal lumen, participating in biliary copper excretion via lysosomes
15557537 a novel T766R mutation
15519648 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
15519648 the H1069Q mutation is associated with a late and neurologic presentation.
15511628 Hepatic abnormalities in Long-Evans Cinnamon rats, an animal model of Wilson disease, were restored by the expression of the human ATP7B cDNA under the control of CAG promoter
15337266 the result of this study completed sequence DNA analysis linked to the gene ATP-7B from patient wd-1 revealed a novel A to C transversion in exon 17 at position 3856 (A3856C) of the mRNA resulting in a threonine for proline substitution at position 1232.
15205462 analysis of the Wilson disease mutations in the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase
15158437 analysis of amino acid pairs sensitive to variants in human copper-transporting ATPase 2
15154620 Overexpression of ATP7B in hepatocellular carcinoma might be associated with unfavorable clinical outcome in patients treated with cisplatin-based chemotherapy.
15135234 copper transporting ATPase Wilson (ATP7B)is present in the syncytiotrophoblast of the human placenta
15102688 ATP7B has a role in chemoresistance for cisplatin-based chemotherapy in patients with ovarian carcinoma
14966923 Observational study of gene-disease association. (HuGE Navigator)
14966923 1384del17bp is a novel mutation found in WD patients, R778L is the most common mutation of ATP7B gene, and there is a correlation between R778L and hepatic manifestations in WD patient.
14709553 handling of copper by Atox1 and copper transfer between Atox1 and WND are under kinetic rather than thermodynamic control
14616767 ATP7B is a copper-transporting P-type ATPase defective in the copper transport disorder, Wilson disease (WND).
14514926 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
12885331 characterized the ATP7B molecular defect in 80% of Wilson disease chromosomes and found 11 different mutations
12820478 No mutation at the six copper-binding domain and ATP-binding domain of ATP7B was observed in breast, gastric and oral squameous cell carcinomas.
12812649 Observational study of gene-disease association. (HuGE Navigator)
12763797 The functional properties of this enzyme in Wilson's disease are examined with regard to its regulation by Atox1 protein.
12579336 Expression of ATP7B was determined in esophageal carcinoma.
12579329 ATP7B is localized in the late endosomes in a polarized hepatocyte cell line.
12557139 Defective cellular localization of mutant ATP7B in Wilson's disease and hepatoma cell lines. H1069Q-ATP7B was trapped in endoplasmic reticulum. Truncated ATP7B mutants showed a diffuse, clustered, cytoplasmic pattern.
12551905 Histidine-1069 in an invariant site on this protein and affects its folding and function.
12544487 R778L, N1270S, and A874V mutations are three major mutations representing approximately 60% of mutated alleles
12539962 molecular architecture and major biochemical properties (review)
12539960 mutated in Wilson disease.
12445675 This study describes the first report that a copper-transporting P-type adenosine triphosphatase, ATP7B, is expressed in human gastric carcinomas
12325021 DNA mutations residing in the consensus sequence of WND gene splice sites result in the Wilson disease phenotype by interfering with the production of the normal WND protein.
12216079 the role of ATP7B gene in ovarian carcinoma and its expression compared with those of multidrug resistance-related transporters such as MDR1, MRP1, MRP2, LRP and BCRP genes
12196182 The form of this protein expressed in Sf9 cells is phosphorylated
12186999 Observational study of gene-disease association. (HuGE Navigator)
12029094 Metallochaperone Atox1 transfers copper to the NH2-terminal domain and regulates its catalytic activity
11857545 frequency of common Wilson diease gene mutations in Hungarian patients
11823463 Zinc binding to the NH2-terminal domain of the Wilson disease copper-transporting ATPase: implications for in vivo metal ion-mediated regulation of ATPase activity.
11806854 Observational study of genotype prevalence. (HuGE Navigator)
11802810 ATP7B expression is upregulated in breast carcinoma
11775546 Missense mutation, Arg779Leu, was identified in 14 WD patients, and the frequency of this mutation in Chinese patients was 30%.
11775208 Observational study of genotype prevalence. (HuGE Navigator)
11690702 Observational study of genetic testing. (HuGE Navigator)
11470780 Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase.

AA Sequence

MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATSTVRILGMTCQ      1 - 70
SCVKSIEDRISNLKGIISMKVSLEQGSATVKYVPSVVCLQQVCHQIGDMGFEASIAEGKAASWPSRSLPA     71 - 140
QEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSNQEAVITYQPYLIQPEDLRDHVNDMGFEAAI    141 - 210
KSKVAPLSLGPIDIERLQSTNPKRPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIG    211 - 280
QLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPP    281 - 350
RNQVQGTCSTTLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDM    351 - 420
GFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQSTRAVAPQKC    421 - 490
FLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPLEIAQFIQDLGFEAAVMEDYA    491 - 560
GSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDIIKIIEEIGFHAS    561 - 630
LAQRNPNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFF    631 - 700
ILCTFVQLLGGWYFYVQAYKSLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPML    701 - 770
FVFIALGRWLEHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFP    771 - 840
VDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSK    841 - 910
APIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKHISQTEVIIRFAFQTSITVLC    911 - 980
IACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRVLLLGDVAT    981 - 1050
LPLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPL   1051 - 1120
SAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCG   1121 - 1190
MIAIADAVKQEAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGK   1191 - 1260
KVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRRIRINLVLALI   1261 - 1330
YNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPDLERYEAQAHGHMKPLTASQV   1331 - 1400
SVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSRHSAAADDDGDKWSLLLNGRDEEQYI        1401 - 1465
//

Text Mined References (271)

PMID Year Title
26829729 2016 [Mutation analysis of 35 Wilson's disease pedigrees].
26797276 2016 Copper binding triggers compaction in N-terminal tail of human copper pump ATP7B.
26782526 2015 Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.
26483271 2016 Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
26253413 2015 Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
26215059 2015 Clinical and genetic analysis of pediatric patients with Wilson disease.
26207595 2016 Geographic distribution of ATP7B mutations in Wilson disease.
26182283 2015 [A young boy with elevated aminotransferases in physical examination--Two novel missense mutations associated with Wilson's disease were found].
26032686 2015 Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion.
26004889 2015 Functional characterization of new mutations in Wilson disease gene (ATP7B) using the yeast model.
25982861 2015 Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
25900953 2015 Development of low-density oligonucleotide microarrays for detecting mutations causing Wilson's disease.
25666620 2015 Communication between the N and C termini is required for copper-stimulated Ser/Thr phosphorylation of Cu(I)-ATPase (ATP7B).
25497208 2015 Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.
25465132 Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.
25390358 2014 Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.
25365615 2014 The same haplotype for two unrelated Wilson disease patients with new ATP7B mutation.
25253690 2014 Interactions between metal-binding domains modulate intracellular targeting of Cu(I)-ATPase ATP7B, as revealed by nanobody binding.
25089800 2014 Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.
25086856 2014 Identification and characterization of a novel splice-site mutation in the Wilson disease gene.
24878384 2014 New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.
24852429 2014 The ATP7B genetic polymorphisms predict clinical outcome to platinum-based chemotherapy in lung cancer patients.
24706876 2014 Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
24303094 2013 Diagnostic challenges of Wilson's disease presenting as acute pancreatitis, cholangitis, and jaundice.
24253677 2014 In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
24094725 2014 Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
24023303 2013 Utility of ATP7B in prediction of response to platinum-based chemotherapy in urothelial bladder cancer.
23982005 2013 Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.
23963605 2013 Intestinal expression of metal transporters in Wilson's disease.
23948886 2013 Intronic rs2147363 variant in ATP7B transcription factor-binding site associated with Alzheimer's disease.
23843956 2013 Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
23830383 Genetic variability in copper-transporting P-type adenosine triphosphatase (ATP7B) is associated with Alzheimer's disease in a Chinese population.
23803742 2013 The role of metal binding and phosphorylation domains in the regulation of cisplatin-induced trafficking of ATP7B.
23789284 2013 Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.
23760784 2013 ATP7B variants as modulators of copper dyshomeostasis in Alzheimer's disease.
23751120 2013 Copper chaperone Atox1 interacts with the metal-binding domain of Wilson's disease protein in cisplatin detoxification.
23650006 [Wilson disease - factors affecting clinical presentation].
23518715 2013 A genetic study of Wilson's disease in the United Kingdom.
23333878 2013 Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
23275100 2013 Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.
23235335 2013 Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
23221602 2013 Is ATP7B a predictive marker in patients with ovarian carcinoma treated with platinum-taxane combination chemotherapy?
23219664 2013 Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23159873 2013 A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
22950421 2013 Linkage disequilibrium and haplotype analysis of the ATP7B gene in Alzheimer's disease.
22898812 2012 Molecular events initiating exit of a copper-transporting ATPase ATP7B from the trans-Golgi network.
22774841 2012 Common local founder effects for Wilson's disease and hereditary hemochromatosis; mutation studies of a large family.
22763723 2012 Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
22720308 2012 The His1069Gln mutation in the ATP7B gene in Romanian patients with Wilson's disease referred to a tertiary gastroenterology center.
22720273 2012 Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.
22692182 2012 A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.
22677543 2012 Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.
22574136 2012 In vitro thermodynamic dissection of human copper transfer from chaperone to target protein.
22484412 2012 Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
22459168 2012 The CXXC motifs in the metal binding domains are required for ATP7B to mediate resistance to cisplatin.
22356903 2012 Association of K832R and R952K SNPs of Wilson's disease gene with Alzheimer's disease.
22258517 2012 Copper hypothesis in the missing hereditability of sporadic Alzheimer's disease: ATP7B gene as potential harbor of rare variants.
22240481 2012 Diverse functional properties of Wilson disease ATP7B variants.
22145502 2011 Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease.
22130675 2012 Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B.
22075048 2012 New novel mutation of the ATP7B gene in a family with Wilson disease.
22046264 2011 Elucidation of the ATP7B N-domain Mg2+-ATP coordination site and its allosteric regulation.
21832955 2012 Manifestations and evolution of Wilson disease in pediatric patients carrying ATP7B mutation L708P.
21796144 2011 Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
21682854 2011 Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.
21645214 2011 Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
21454443 2011 Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking.
21406592 2011 Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein.
21398519 2011 Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B.
21242307 2011 Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B.
21219664 2011 Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
21189263 2011 Involvement of protein kinase D in expression and trafficking of ATP7B (copper ATPase).
21117320 2010 [Structure and function of ATP7A and ATP7B proteins--Cu-transporting ATPases].
21115196 2011 Differential intracellular localisation of the Menkes and Wilson copper transporting ATPases in the third trimester human placenta.
21034864 Six novel ATP7B mutations in Thai patients with Wilson disease.
20965182 2010 ATP dependent charge movement in ATP7B Cu+-ATPase is demonstrated by pre-steady state electrical measurements.
20931554 2010 Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
20799727 2010 NMR characterization of copper-binding domains 4-6 of ATP7B .
20739809 R778L, H1069Q, and I1102T mutation study in neurologic Wilson disease.
20708958 2010 Genetics of Wilsons disease.
20566629 2010 Role of glutaredoxin1 and glutathione in regulating the activity of the copper-transporting P-type ATPases, ATP7A and ATP7B.
20491539 2010 High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease.
20485189 2010 Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease.
20465995 2010 Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations.
20430895 2010 Role of external loops of human ceruloplasmin in copper loading by ATP7B and Ccc2p.
20362556 2010 Overexpressed ATP7B protects mesenchymal stem cells from toxic copper.
20333758 2010 Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20124325 2010 Association of ATP7B mutation detection rate with biochemical characteristics in Korean patients with Wilson disease.
20082719 2010 Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.
20045993 2009 Genetic polymorphisms of copper- and platinum drug-efflux transporters ATP7A and ATP7B in Japanese cancer patients.
20032459 2010 Interactions between copper-binding sites determine the redox status and conformation of the regulatory N-terminal domain of ATP7B.
19946888 2010 Defining the membrane proteome of NK cells.
19783880 2009 [Haplotype analysis and possible founder effect at the R778L mutation of the ATP7B gene in Korean patients with Wilson's disease].
19645496 2009 Solution structures of the actuator domain of ATP7A and ATP7B, the Menkes and Wilson disease proteins.
19634275 2009 [Introduction of DNA microarray in molecular diagnostics of Wilson disease].
19520855 2009 High yield heterologous expression of wild-type and mutant Cu+-ATPase (ATP7B, Wilson disease protein) for functional characterization of catalytic activity and serine residues undergoing copper-dependent phosphorylation.
19478447 2009 Crystallization and preliminary X-ray studies of the N-domain of the Wilson disease associated protein.
19419418 2009 Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population.
19416479 2009 Cell-specific trafficking suggests a new role for renal ATP7B in the intracellular copper storage.
19371217 2009 RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.
19296535 2009 Increased levels of copper efflux transporter ATP7B are associated with poor outcome in colorectal cancer patients receiving oxaliplatin-based chemotherapy.
19181666 2009 An NMR study of the interaction of the N-terminal cytoplasmic tail of the Wilson disease protein with copper(I)-HAH1.
19141620 2009 Functional interactions of Cu-ATPase ATP7B with cisplatin and the role of ATP7B in the resistance of cells to the drug.
19062534 2008 From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia.
19046832 2009 [From gene to disease: copper-transporting P ATPases alteration].
19033537 2009 Apical targeting and Golgi retention signals reside within a 9-amino acid sequence in the copper-ATPase, ATP7B.
18974300 2008 Copper-induced translocation of the Wilson disease protein ATP7B independent of Murr1/COMMD1 and Rab7.
18855987 2008 High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.
18841562 2008 [Rapid detection of common ATP7B mutations in Wilson disease by high resolution melting analysis].
18809983 2008 Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: a novel ATP7B mutation in an adult patient.
18698682 2008 Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.
18692069 2008 Stability and ATP binding of the nucleotide-binding domain of the Wilson disease protein: effect of the common H1069Q mutation.
18688737 2008 Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases.
18652531 2008 Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system.
18637198 2008 Wilson protein expression, copper excretion and sweat production in sweat glands of Wilson disease patients and controls.
18636185 2008 Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) correlates with cisplatin resistance in human non-small cell lung cancer xenografts.
18593893 2008 Single-cell transcription site activation predicts chemotherapy response in human colorectal tumors.
18565219 2008 Altered localisation of the copper efflux transporters ATP7A and ATP7B associated with cisplatin resistance in human ovarian carcinoma cells.
18558714 2008 Metal binding domains 3 and 4 of the Wilson disease protein: solution structure and interaction with the copper(I) chaperone HAH1.
18521802 2008 Psychopathology and personality traits in patients with treated Wilson disease grouped according to gene mutations.
18483695 2008 Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.
18373411 2008 New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
18371106 2008 Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.
18203200 2008 Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
18180385 2008 ATP7B expression in human breast epithelial cells is mediated by lactational hormones.
17949296 2007 Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
17944925 ATP7B antisense oligodeoxynucleotides increase the cisplatin sensitivity of human ovarian cancer cell line SKOV3ipl.
17919502 2007 Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
17897870 2008 Neurological manifestations and ATP7B mutations in Wilson's disease.
17876883 2007 Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.
17823867 2007 Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.
17718866 2007 Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease.
17717039 2007 Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
17680703 2007 Sequence variation database for the Wilson disease copper transporter, ATP7B.
17660582 2007 Detection of His1069Gln mutation in Wilson disease by bidirectional PCR amplification of specific alleles (BI-PASA) test.
17634212 2007 Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.
17587212 2007 Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
17562324 2007 Biochemical basis of regulation of human copper-transporting ATPases.
17531189 2007 Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis.
17410460 2007 Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.
17325640 2007 Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease.
17317524 2007 Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene.
17272994 2007 Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.
17229731 2007 Cu(I) binding and transfer by the N terminus of the Wilson disease protein.
17196137 2006 [Direct sequencing and analysis of exons of Wilson' disease gene with the most mutations: a study in Hunan Han patients].
17171802 2006 Expression of ATP7B in human gastric cardiac carcinomas in comparison with distal gastric carcinomas.
17160357 2007 Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.
17109627 2007 Hormonal regulation of the Menkes and Wilson copper-transporting ATPases in human placental Jeg-3 cells.
16939419 2007 Copper binding to the N-terminal metal-binding sites or the CPC motif is not essential for copper-induced trafficking of the human Wilson protein (ATP7B).
16884690 2006 Copper-dependent interaction of glutaredoxin with the N termini of the copper-ATPases (ATP7A and ATP7B) defective in Menkes and Wilson diseases.
16700326 2006 Hepatocyte transplantation in the Long Evans Cinnamon rat model of Wilson's disease.
16676348 2006 A new hepatocytic isoform of PLZF lacking the BTB domain interacts with ATP7B, the Wilson disease protein, and positively regulates ERK signal transduction.
16649058 2006 Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.
16632204 2006 Copper transfer studies between the N-terminal copper binding domains one and four of human Wilson protein.
16571664 2006 Structure of human Wilson protein domains 5 and 6 and their interplay with domain 4 and the copper chaperone HAH1 in copper uptake.
16567646 2006 Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations.
16554302 2006 Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A.
16472602 2006 ATP7B mediates vesicular sequestration of copper: insight into biliary copper excretion.
16416207 2006 A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia.
16377579 Expression of ATP7B in normal human liver.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16310588 2005 Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson's disease, with a concentration on those homozygous for R778L.
16283883 2005 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.
16230279 [Wilson disease: clinical and biological aspects].
16215951 2005 [Effect of the mutation of promoter region in Wilson disease ATP7B gene on the expression of reporter gene].
16211609 2006 p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
16207219 2005 Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
16088907 2005 Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.
15967699 Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
15963506 2005 Purification and functional reconstitution of the human Wilson copper ATPase, ATP7B.
15952988 2005 Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.
15845031 2005 Wilson disease: high prevalence in a mountainous area of Crete.
15811015 2005 Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.
15681833 2005 The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein.
15557537 2004 Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation.
15519648 2004 The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.
15511628 2004 Restoration of copper metabolism and rescue of hepatic abnormalities in LEC rats, an animal model of Wilson disease, by expression of human ATP7B gene.
15337266 2004 New mutation (T1232P) of the ATP-7B gene associated with neurologic and neuropsychiatric dominance onset of Wilson's disease in three unrelated Colombian kindred.
15269005 2004 Signals regulating trafficking of Menkes (MNK; ATP7A) copper-translocating P-type ATPase in polarized MDCK cells.
15205462 2004 The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F.
15158437 2004 Determination of amino acid pairs sensitive to variants in human copper-transporting ATPase 2.
15154620 Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) in human hepatocellular carcinoma.
15135234 2004 Expression and localization of menkes and Wilson copper transporting ATPases in human placenta.
15102688 2004 Prognostic value of the Cu-transporting ATPase in ovarian carcinoma patients receiving cisplatin-based chemotherapy.
15071553 2004 Biology, structure and mechanism of P-type ATPases.
15057823 2004 The DNA sequence and analysis of human chromosome 13.
15024742 2004 Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
14986826 2003 Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
14966923 2004 Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
14709553 2004 Binding of copper(I) by the Wilson disease protein and its copper chaperone.
14639035 2004 A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease.
14616767 2003 Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease.
14514926 2003 4193delC, a common mutation causing Wilson's disease in Saudi Arabia: rapid molecular screening of patients and carriers.
12968035 2003 The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein.
12885331 2003 Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
12820478 Mutation analysis of copper-transporting P-type adenosine triphosphatase (ATP7B) in human solid carcinomas.
12812649 2003 [Genotype-phenotype correlation of patients with wilson disease in Chinese population].
12763797 2003 Functional properties of the human copper-transporting ATPase ATP7B (the Wilson's disease protein) and regulation by metallochaperone Atox1.
12579336 2003 Expression of copper-transporting P-type adenosine triphosphatase in human esophageal carcinoma.
12579329 2003 Wilson disease protein ATP7B is localized in the late endosomes in a polarized human hepatocyte cell line.
12572677 2003 Copper-induced trafficking of the cU-ATPases: a key mechanism for copper homeostasis.
12557139 2003 Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines.
12551905 2003 The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B.
12544487 Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
12539962 2002 Human copper-transporting ATPase ATP7B (the Wilson's disease protein): biochemical properties and regulation.
12539960 2002 Copper transporting P-type ATPases and human disease.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12445675 2003 Copper-transporting P-type adenosine triphosphatase (ATP7B) is expressed in human gastric carcinoma.
12376745 2002 Two families with Wilson disease in which siblings showed different phenotypes.
12325021 2002 Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
12216079 2002 Copper-transporting P-type adenosine triphosphatase (ATP7B) as a cisplatin based chemoresistance marker in ovarian carcinoma: comparative analysis with expression of MDR1, MRP1, MRP2, LRP and BCRP.
12196182 2002 The Wilson's disease protein expressed in Sf9 cells is phosphorylated.
12186999 2002 Genotype correlation with fine motor symptoms in patients with Wilson's disease.
12029094 2002 Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson's disease protein and regulates its catalytic activity.
11954751 2002 Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.
11806854 2001 Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach.
11802810 2002 Copper-transporting P-type adenosine triphosphatase (ATP7B) is expressed in human breast carcinoma.
11775208 2000 Identification and analysis of mutations of the Wilson disease gene in Chinese population.
11690702 2001 High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.
11470780 2001 Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase.
11405812 2001 Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
11243728 2001 Molecular diagnosis of Wilson disease.
11231950 2001 A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates.
11216666 2000 Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
11180609 2001 Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.
11093740 2000 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.
11053407 2001 The Lys1010-Lys1325 fragment of the Wilson's disease protein binds nucleotides and interacts with the N-terminal domain of this protein in a copper-dependent manner.
11043508 2000 Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
10942420 2000 Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.
10940336 2000 Cellular copper transport and metabolism.
10790207 2000 Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
10721669 2000 Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
10557326 1999 Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis.
10544227 1999 Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
10502777 1999 A study of Wilson disease mutations in Britain.
10502776 1999 Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
10497213 1999 Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p.
10453196 1999 Molecular analysis and diagnosis in Japanese patients with Wilson's disease.
10447265 1999 Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
10334941 1999 Cloning and characterization of the promoter region of the Wilson disease gene.
10194254 1999 [Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients].
10051024 1999 The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease.
9887381 His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.
9837819 1998 Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
9829905 1998 Mutation analysis of Wilson disease in Taiwan and description of six new mutations.
9772425 1997 Identification of a novel missense mutation in Wilson's disease gene.
9724794 1998 Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.
9671269 1998 Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
9600907 1998 Localization of the Wilson's disease protein product to mitochondria.
9554743 1998 Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
9482578 1998 Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
9452121 1998 Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
9311736 1997 Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
9307043 1997 Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.
9222767 1997 24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.
8980283 1997 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.
8938442 1996 Efficient detection of mutations in Wilson disease by manifold sequencing.
8931691 1996 Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8782057 1996 High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.
8533760 1995 Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
8298641 1993 The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
8298640 1993 Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.
8298639 1993 The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
8250934 1993 Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.
7833924 1994 Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.
7762553 1995 Haplotypes and mutations in Wilson disease.
7626145 1995 The Wilson disease gene: spectrum of mutations and their consequences.