Recombinant Human Calcium-transporting ATPase type 2C member 1 (ATP2C1), partial

1. The calcium pump SPCA1 regulates proteases within the trans-Golgi network that require calcium for their activity and are critical for virus glycoprotein maturation. PMID: 29024641
2. the functional coupling between SPCA1 and Orai1 increases cytosolic and intraluminal Ca(2+) levels, representing a novel mechanism of store-independent Ca(2+) entry that may be affected in Hailey-Hailey disease. PMID: 29555205
3. We examined 2 familial and 2 sporadic cases of Hailey-Hailey Disease. Genomic DNA polymerase chain reaction and direct sequencing of the ATP2C1 were performed from HHD patients, unaffected family members, and 200 healthy individuals.We detected 3 heterozygous mutations, including 2 novel frameshift mutations (c.819insA (273LfsX) and c.1264insTAGATGG (421LfsX)) and 1 recurrent nonsense mutation (c.115C>T (R39X)). PMID: 29104283
4. results indicate that an ATP2C1/NOTCH1 axis might be critical for keratinocyte function and cutaneous homeostasis, suggesting a plausible model for the pathological features of Hailey-Hailey disease PMID: 27528123
5. Studies indicate that Darier disease (DD) is caused by mutations in the ATP2A2 gene, whereas the ATP2C1 gene is associated with Hailey-Hailey disease (HHD). PMID: 28035777
6. This article aims to critically discuss the clinical and pathological features of Hailey-Hailey disease, differential diagnoses, and genetic and functional studies of the ATP2C1 gene in Hailey-Hailey disease. [review] PMID: 28551824
7. review of the literature about the mutations occurring on the ATP2C1 gene and summarize how they are distributed along the gene and how missense mutations affect protein expression PMID: 27277681
8. The Secretory Pathway Ca(2+) -ATPases SPCA1 and SPCA2 are strongly induced under osteogenic conditions that elicit microcalcifications. SPCA gene expression is significantly elevated in breast cancer subtypes that are associated with microcalcifications. PMID: 28618103
9. xpressing either wild-type or mutant forms of SLC30A10 was sufficient to inhibit the effect of ATP2C1 in response to Mn challenge in both zebrafish embryos and HeLa cells. These findings suggest that either activating ATP2C1 or restoring the Mn-induced trafficking of ATP2C1 can reduce Mn accumulation, providing a possible target for treating HMDPC. PMID: 28692648
10. SPCA1a is highly sensitive to the lipid environment and that several SERCA inhibitors, including thapsigargin (Tg), also block SPCA1a activity, although at higher concentrations only. There were differences in the relative contribution of Tg side chains in the inhibition of SERCA1a versus SPCA1a. PMID: 28264934
11. A heterozygous deletion mutation, c. 2445_2454del 10bp, p.Cys814Leu fs*7, was detected in all three Hailey-Hailey disease subjects. This mutation has not yet been described. PMID: 26242806
12. In this study, direct DNA sequencing was used to identify ATP2C1 gene mutations in four Chinese families and two sporadic cases with Hailey-Hailey disease. PMID: 27095120
13. Two novel ATP2C1 mutations have been found in two unrelated Chinese patients with Hailey-Hailey disease pedigree. PMID: 26782588
14. we identified two causative genetic mutations responsible for Hailey-Hailey disease. PMID: 24981372
15. Besides the level of functional ATP2C1 protein, levels of other ATPase proteins may influence expressivity of the disease and may also contribute to atypical presentations in three male members of the Hailey Hailey disease family. PMID: 25837627
16. This is the first genetic report of HHD from Lebanon in which we identified three novel mutations in ATP2C1 and shed light on the molecular mechanisms and pathogenesis of HHD by linking stress signals like heat shock to the observed phenotypes PMID: 25658765
17. We speculate that a novel pathogenic mechanism involving SPCA1, p63, and IRF6 may play a role in the skin lesions occurring in HHD. PMID: 25256005
18. Data suggest that calcium ATPase ATP2C1 gene expression is influenced by an overlapping protein asteroid homolog 1 ASTE1 gene. PMID: 23344038
19. The CFL-1-dependent recruitment of actin to SPCA1 following calcium influx is critical for secretory cargo sorting. PMID: 25179631
20. Case Report: haploinsufficiency of ATP2C1 mutations is the causative mechanism of Hailey-Hailey disease. PMID: 23474827
21. We report sibling cases of Hailey-Hailey disease with novel mutations in the ATP2C1 gene that showed unique and atypical clinical phenotypes mimicking seborrheic dermatitis, pemphigus vulgaris, or pemphigus foliaceus PMID: 24352221
22. A novel mutation is identified in ATP2C1 linked to Chinese patients with Hailey-Hailey disease. PMID: 23442470
23. we report four novel mutations of the ATP2C1 gene involved in HHD, expanding the repertoire of ATP2C1 mutations underlying HHD. PMID: 22607350
24. SPCA1 regulates the levels of claudins 1 and 4, but does not affect desmosomal protein levels in keratinocytes. PMID: 22639968
25. Human PMR1 bound to c-Src, was tyrosine phosphorylated, sedimented on polysomes, and catalyzed the selective decay of a PMR1 substrate mRNA. Human PMR1 expression stimulated cell motility. PMID: 22543864
26. genetic polymorphism is associated with Hailey-Hailey disease in Chinese patients PMID: 22124882
27. we report five novel mutations and four recurrent mutations of the ATP2C1 gene in Chinese patients. This further expands the mutation spectrum in Hailey-Hailey Disease. PMID: 21883398
28. The detection of an ATP2C1 gene mutation in this infant confirmed the diagnosis of Hailey Hailey disease PMID: 20403116
29. The SPCA1 knockdown, like ADF/cofilin1 knockdown, inhibited Ca(2+) uptake into the TGN and caused missorting of secretory cargo. PMID: 21571222
30. Correct SPCA1 functioning is crucial to intra-Golgi transport and maintenance of the Golgi ribbon. PMID: 20604898
31. Heterogeneous mutations of the ATP2C1 gene cause Hailey-Hailey disease in Hong Kong Chinese. PMID: 20236194
32. analysis of a gain-of-function mutation in a Golgi P-type ATPase that enhances Mn2+ efflux and protects against toxicity PMID: 21187401
33. SPCA1 inhibites the processing of IGF1R in MDA-MB-231 cells. PMID: 20837466
34. two specific novel mutations of the ATP2CL gene were identified two typical Chinese pedigrees with Hailey-Hailey disease PMID: 20055875
35. SPCA1 is associated with cholesterol-rich domains of HT29 cells, and the cholesterol-rich environment is essential for the functioning of the pump PMID: 20363212
36. Six novel ATP2C1 mutations are identified in Chinese patients with Hailey-Hailey disease. PMID: 20226632
37. failed to yield any clear correlation between the nature of the mutation and clinical features of Hailey-Hailey disease. PMID: 11841554
38. Hailey-Hailey disease (HHD) is caused by mutations in the ATP2C1 gene. PMID: 11966689
39. the crucial role of Asp-742 in the architecture of the SPCA1 ion-binding site and a role of Gly-309 in Mn2+ transport selectivity. PMID: 12707275
40. SPCA1 Ca2+ pump has a role in the Ca2+ accumulation in the Golgi apparatus of HeLa cells PMID: 12804581
41. the abnormal Ca2+ signaling seen in Hailey-Hailey disease keratinocytes correlates with decreased protein levels of ATP2C1. PMID: 14632183
42. Functional analyses of Hailey Hailey disease-mutant A528P demonstrated a low level of protein expression, despite normal levels of mRNA and correct targeting to the Golgi, suggesting instability or abnormal folding of the mutated hSPCA1 polypeptides PMID: 15191544
43. A review of the role of SPCA1 in ion homeostasis in the golgi apparatus and in Hailey-Hailey disease. PMID: 15336968
44. Two copies of mutated ATP2C1 were found in an index case diagnosed with type 2 segmental Hailey-Hailey disease. PMID: 15545997
45. important contributions of the Golgi-localized ATP2C1 protein in homeostatic maintenance throughout the secretory pathway. PMID: 15623514
46. Intracellular Ca(2+) stores and store-dependent [Ca(2+)](i) oscillations in human spermatozoa rely primarily on a thapsigargin/cyclopiazonic acid-insensitive Ca(2+) pump, SPCA1. PMID: 15811949
47. Sp1 and YY1 transactivate human ATP2C1 promoter via cis-enhancing elements and that incomplete upregulation of ATP2C1 transcription contributes to keratinocyte-specific pathogenesis of Hailey-Hailey disease. PMID: 15955096
48. Relative to SERCA1a, the active SPCA1a, SPCA1b, and SPCA1d enzymes displayed extremely high apparent affinities for cytosolic Ca(2+) in activation of the overall ATPase and phosphorylation activities. PMID: 16192278
49. The high allelic heterogeneity of the ATP2C1 gene was confirmed, which supports the notion that Hailey-Hailey disease is a genetically homogeneous disorder. PMID: 16297192
50. analysis of SPCA1 and SPCA2 isoenzymes by steady-state and transient kinetic analyses PMID: 16332677

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HGNC: 13211

OMIM: 169600

KEGG: hsa:27032

STRING: 9606.ENSP00000376914

UniGene: Hs.584884