ATP2C1

ATPase, Ca++ transporting, type 2C, member 1
Identifiers
Symbols	ATP2C1 ; ATP2C1A; BCPM; HHD; KIAA1347; PMR1; SPCA1; hSPCA1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 56672
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

ATPase, Ca++ transporting, type 2C, member 1, also known as ATP2C1, is a human gene.

The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.

Further reading

• Missiaen L, Raeymaekers L, Dode L; et al. (2004). "SPCA1 pumps and Hailey-Hailey disease". Biochem. Biophys. Res. Commun. 322 (4): 1204–13. doi:10.1016/j.bbrc.2004.07.128. PMID 15336968.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ikeda S, Welsh EA, Peluso AM; et al. (1995). "Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q". Hum. Mol. Genet. 3 (7): 1147–50. PMID 7981684.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hu Z, Bonifas JM, Beech J; et al. (2000). "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease". Nat. Genet. 24 (1): 61–5. doi:10.1038/71701. PMID 10615129.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nagase T, Kikuno R, Ishikawa KI; et al. (2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (1): 65–73. PMID 10718198.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sudbrak R, Brown J, Dobson-Stone C; et al. (2000). "Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump". Hum. Mol. Genet. 9 (7): 1131–40. PMID 10767338.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stanchi F, Bertocco E, Toppo S; et al. (2001). "Characterization of 16 novel human genes showing high similarity to yeast sequences". Yeast. 18 (1): 69–80. doi:10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H. PMID 11124703.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ton VK, Mandal D, Vahadji C, Rao R (2002). "Functional expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease". J. Biol. Chem. 277 (8): 6422–7. doi:10.1074/jbc.M110612200. PMID 11741891.CS1 maint: Multiple names: authors list (link)
• Dobson-Stone C, Fairclough R, Dunne E; et al. (2002). "Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene". J. Invest. Dermatol. 118 (2): 338–43. doi:10.1046/j.0022-202x.2001.01675.x. PMID 11841554.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yokota K, Yasukawa K, Shimizu H (2002). "Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease". J. Invest. Dermatol. 118 (3): 550–1. doi:10.1046/j.0022-202x.2001.01686.x. PMID 11874499.CS1 maint: Multiple names: authors list (link)
• Chao SC, Tsai YM, Yang MH (2002). "Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease". Br. J. Dermatol. 146 (4): 595–600. PMID 11966689.CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fairclough RJ, Dode L, Vanoevelen J; et al. (2003). "Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1)". J. Biol. Chem. 278 (27): 24721–30. doi:10.1074/jbc.M300509200. PMID 12707275.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Matsuda A, Suzuki Y, Honda G; et al. (2003). "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways". Oncogene. 22 (21): 3307–18. doi:10.1038/sj.onc.1206406. PMID 12761501.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Van Baelen K, Vanoevelen J, Callewaert G; et al. (2003). "The contribution of the SPCA1 Ca2+ pump to the Ca2+ accumulation in the Golgi apparatus of HeLa cells assessed via RNA-mediated interference". Biochem. Biophys. Res. Commun. 306 (2): 430–6. PMID 12804581.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Callewaert G, Parys JB, De Smedt H; et al. (2004). "Similar Ca(2+)-signaling properties in keratinocytes and in COS-1 cells overexpressing the secretory-pathway Ca(2+)-ATPase SPCA1". Cell Calcium. 34 (2): 157–62. PMID 12810057.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Aronchik I, Behne MJ, Leypoldt L; et al. (2003). "Actin reorganization is abnormal and cellular ATP is decreased in Hailey-Hailey keratinocytes". J. Invest. Dermatol. 121 (4): 681–7. doi:10.1046/j.1523-1747.2003.12472.x. PMID 14632182.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Behne MJ, Tu CL, Aronchik I; et al. (2003). "Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores". J. Invest. Dermatol. 121 (4): 688–94. doi:10.1046/j.1523-1747.2003.12528.x. PMID 14632183.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mitchell KJ, Tsuboi T, Rutter GA (2004). "Role for plasma membrane-related Ca2+-ATPase-1 (ATP2C1) in pancreatic beta-cell Ca2+ homeostasis revealed by RNA silencing". Diabetes. 53 (2): 393–400. PMID 14747290.CS1 maint: Multiple names: authors list (link)
• Fairclough RJ, Lonie L, Van Baelen K; et al. (2004). "Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels". J. Invest. Dermatol. 123 (1): 67–71. doi:10.1111/j.0022-202X.2004.22713.x. PMID 15191544.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)