Recombinant Human Copper-transporting ATPase 2 (ATP7B), partial

1. Study reports the NMR structure of the metal-binding domain 1 (MBD1) of ATP7B. The structure reveals the disruptive mechanism of G85V mutation, one of the very few Singular Wilson disease causing missense mutations in the MBD1-4 region of ATP7B. The protein misfolding will disrupt MBD1-3 interactions, and interfere with proper ATP7B trafficking and activity which, in turn may be followed by protein degradation. PMID: 29330485
2. Single-particle analysis yielded a low-resolution 3D model that provides the first insight into an overall architecture of human ATP7B, positions of the main domains, and a dimer interface. PMID: 28842499
3. The genotypes of ATP7B gene may be novel and significant biomarkers for predicting the gastrointestinal toxicity of platinum-based chemotherapy in NSCLC patients. PMID: 29970670
4. The ATP7B gene codes the ATP7B protein, which is an acronym for: ATPase activity, 7 distinct domain, and B class for second P-type ATPase copper binding pump. PMID: 29540233
5. Mutations in the alpha-1-antitrypsin and Wilson's genes may act as cofactors in the pathogenesis of fatty liver diseases. PMID: 29324588
6. Compound heterozygous mutations Arg778Leu and a variant in intron4:c.1707 + 5G>A were identified in a case of Wilson's disease with adrenocortical insufficiency. c.1707 + 5G>A variant resulted in exon 4 skipping. PMID: 29181760
7. These findings were different from previous studies in Asia. Our research established a suitable strategy for ATP7B gene testing in northern Vietnamese WD patients. PMID: 29321352
8. Wilson disease (WD) is an autosomal-recessive disease caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase. PMID: 29325617
9. The role of metal-binding domains in ATP7B function and Wilson disease causing point mutations.[review] PMID: 29063292
10. for ATP7B mutations, the more severe impact on ATP7B protein was, the younger onset age and lower Cp level presented. The feasibility of presymptomatic DNA diagnosis and predicting clinical manifestation or severity of Wilson disease (WD) would be facilitated with identified mutations and genotype-phenotype correlation precisely revealed in the study. PMID: 27982432
11. Among those >800 reported mutations of the ATP7B gene missense/nonsense mutations are very rare. A874V-ATP7B protein mutant showed apparent destabilization and endoplasmic reticulum retention, and lost copper transport activity, thus likely causing Wilson disease phenotype. PMID: 29381936
12. Our findings imply that reduced stability and enhanced dynamics of MBD1 or MBD6 is the origin of ATP7B dysfunction in Wilson disease patients with the G85V or G591D mutation. PMID: 27744583
13. single nucleotide polymorphisms in ATP7B gene is associated with copper dysmetabolism in Alzheimer's disease. PMID: 27499330
14. Mutation in ATP7B gene is associated with copper dysmetabolism in Wilson disease. PMID: 27714068
15. We here demonstrate that ATP7B confers multidrug resistance by facilitating nuclear drug efflux and late endosomal drug sequestration. PMID: 26988911
16. Wilson's disease results from mutations that cause absent or markedly diminished levels of ATP7B that can be determined in dried blood spots using a novel immune-SRM assay. PMID: 27935710
17. Expression of the most frequent ATP7B mutant, H1069Q, activates p38 and c-Jun N-terminal kinase signaling pathways, which favor the rapid degradation of the mutant. PMID: 26660341
18. Results reveal that partial gene deletions in ATP7B represent causative mutations in some of the uncharacterized Wilson's disease alleles. PMID: 27992490
19. Stratified analysis by genotypes revealed that both outdoor and indoor copper exposure increased inattentiveness in ATP7B rs1061472-CC and rs1801243-CC carriers. PMID: 28008856
20. ATP7B mutant cell lines showed different degrees of cell survival and characteristic responses upon treatment with Zn and D-penicillamine. PMID: 27122662
21. Five of the nineteen mutations in ATP7B were newly detected mutations; moreover, 8 of these mutations were polymorphic (2 were newly identified). PMID: 27706781
22. miR-133a enhances the sensitivity of multidrug-resistant epithelial cells to cisplatin by downregulating ATP7B expression. PMID: 27121102
23. the identification of novel mutations in ATP7B for Wilson disease and hereditary hemochromatosis (HFE) or the non-HFE genes for HH has increased, especially with the application of whole genome sequencing technology in recent years, the biological function of the identified mutations, as well as genotype-phenotype correlations remain to be explored PMID: 27592149
24. In the group of 75 Wilson Disease patients of Croatian origin, 18 different mutations in ATP7B gene were detected, three of which were novel. The p.His1069Gln mutation was most frequent, being detected in 44 Croatian WD patients (58.7%). Most ATP7B mutations (90.4%) were located in exons 5, 8, 13, 14, and 15. PMID: 26799313
25. 24 ATP7B distinct mutations, seven of which are novel, have been found in 35 patients with hepatolenticular degeneration. PMID: 26782526
26. 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 PMID: 26483271
27. analysis of the geographic distribution of ATP7B mutations in Wilson disease [review] PMID: 26207595
28. 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. PMID: 26032686
29. Metal-dependent movement of the first four metal-binding domains in ATP7B may be a trigger that initiates the overall catalytic cycle. PMID: 26797276
30. Nine out of the thirty-two pediatric Turkish WD patients had no mutations in the ATP7B gene. PMID: 26215059
31. Novel mutation of the ATP7B gene was found in Chinese families with pre-symptomatic Wilson's disease. PMID: 26253413
32. 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. PMID: 26829729
33. Wilson disease causing p.T788I, p.V1036I and p.R1038G-fsX83 mutations lead to functional deficiency in ATP7B protein. PMID: 26004889
34. 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 PMID: 25900953
35. Screening for the two exons 14 and 18 of the ATP7B gene is important in Egyptian patients especially in suspected patients without hepatic manifestations. PMID: 25465132
36. 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 PMID: 26182283
37. Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins PMID: 25497208
38. The detection of new mutations in the ATP7B gene can aid in genetic counseling and clinical or/prenatal diagnosis. PMID: 25982861
39. Identification of mutations and polymorphisms of the ATP7B gene which may contribute to the pathogenesis of Wilson disease. PMID: 24878384
40. 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 PMID: 25390358
41. The purpose of this study was to determine a haplotype analysis of two unrelated Wilson disease patients with the same missense mutation PMID: 25365615
42. showed that hyperphosphorylation occurs even when ATP7B is restricted to the trans-Golgi network PMID: 25666620
43. Wilson disease patients with the splice-site mutation show severe clinical manifestations, indicating that aberrant transcripts have important implications for Wilson disease phenotype. PMID: 25086856
44. 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 PMID: 25089800
45. Data show that nanobodies detected transient interactions between the metal-binding domains (MBDs) and modulated intracellular localization of Cu(I)-ATPase ATP7B. PMID: 25253690
46. 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. PMID: 24253677
47. ATP7B gene might be considered as predictive markers for the efficacy evaluation of platinum-based chemotherapy in Chinese Han lung cancer patients PMID: 24852429
48. different coding mutations were detected in our patient pool including 21 novel and 37 reported variants in Indian patients with Wilson disease PMID: 24094725
49. 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 PMID: 24706876
50. 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. PMID: 23760784

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HGNC: 870

OMIM: 277900

KEGG: hsa:540

STRING: 9606.ENSP00000242839

UniGene: Hs.492280