ATP2C1

ATP2C1

ATPase, Ca++ transporting, type 2C, member 1, also known as ATP2C1, is a human gene.cite web | title = Entrez Gene: ATP2C1 ATPase, Ca++ transporting, type 2C, member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27032| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: ATP2C1 ATPase, Ca++ transporting, type 2C, member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27032| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Missiaen L, Raeymaekers L, Dode L, "et al." |title=SPCA1 pumps and Hailey-Hailey disease. |journal=Biochem. Biophys. Res. Commun. |volume=322 |issue= 4 |pages= 1204–13 |year= 2004 |pmid= 15336968 |doi= 10.1016/j.bbrc.2004.07.128
*cite journal | author=Ikeda S, Welsh EA, Peluso AM, "et al." |title=Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q. |journal=Hum. Mol. Genet. |volume=3 |issue= 7 |pages= 1147–50 |year= 1995 |pmid= 7981684 |doi=
*cite journal | author=Hu Z, Bonifas JM, Beech J, "et al." |title=Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. |journal=Nat. Genet. |volume=24 |issue= 1 |pages= 61–5 |year= 2000 |pmid= 10615129 |doi= 10.1038/71701
*cite journal | author=Nagase T, Kikuno R, Ishikawa KI, "et al." |title=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. |journal=DNA Res. |volume=7 |issue= 1 |pages= 65–73 |year= 2000 |pmid= 10718198 |doi=
*cite journal | author=Sudbrak R, Brown J, Dobson-Stone C, "et al." |title=Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. |journal=Hum. Mol. Genet. |volume=9 |issue= 7 |pages= 1131–40 |year= 2000 |pmid= 10767338 |doi=
*cite journal | author=Stanchi F, Bertocco E, Toppo S, "et al." |title=Characterization of 16 novel human genes showing high similarity to yeast sequences. |journal=Yeast |volume=18 |issue= 1 |pages= 69–80 |year= 2001 |pmid= 11124703 |doi= 10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H |doilabel=10.1002/1097-0061(200101)18:169::AID-YEA6473.0.CO;2-H
*cite journal | author=Ton VK, Mandal D, Vahadji C, Rao R |title=Functional expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease. |journal=J. Biol. Chem. |volume=277 |issue= 8 |pages= 6422–7 |year= 2002 |pmid= 11741891 |doi= 10.1074/jbc.M110612200
*cite journal | author=Dobson-Stone C, Fairclough R, Dunne E, "et al." |title=Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. |journal=J. Invest. Dermatol. |volume=118 |issue= 2 |pages= 338–43 |year= 2002 |pmid= 11841554 |doi= 10.1046/j.0022-202x.2001.01675.x
*cite journal | author=Yokota K, Yasukawa K, Shimizu H |title=Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease. |journal=J. Invest. Dermatol. |volume=118 |issue= 3 |pages= 550–1 |year= 2002 |pmid= 11874499 |doi= 10.1046/j.0022-202x.2001.01686.x
*cite journal | author=Chao SC, Tsai YM, Yang MH |title=Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease. |journal=Br. J. Dermatol. |volume=146 |issue= 4 |pages= 595–600 |year= 2002 |pmid= 11966689 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Fairclough RJ, Dode L, Vanoevelen J, "et al." |title=Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1). |journal=J. Biol. Chem. |volume=278 |issue= 27 |pages= 24721–30 |year= 2003 |pmid= 12707275 |doi= 10.1074/jbc.M300509200
*cite journal | author=Matsuda A, Suzuki Y, Honda G, "et al." |title=Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. |journal=Oncogene |volume=22 |issue= 21 |pages= 3307–18 |year= 2003 |pmid= 12761501 |doi= 10.1038/sj.onc.1206406
*cite journal | author=Van Baelen K, Vanoevelen J, Callewaert G, "et al." |title=The contribution of the SPCA1 Ca2+ pump to the Ca2+ accumulation in the Golgi apparatus of HeLa cells assessed via RNA-mediated interference. |journal=Biochem. Biophys. Res. Commun. |volume=306 |issue= 2 |pages= 430–6 |year= 2003 |pmid= 12804581 |doi=
*cite journal | author=Callewaert G, Parys JB, De Smedt H, "et al." |title=Similar Ca(2+)-signaling properties in keratinocytes and in COS-1 cells overexpressing the secretory-pathway Ca(2+)-ATPase SPCA1. |journal=Cell Calcium |volume=34 |issue= 2 |pages= 157–62 |year= 2004 |pmid= 12810057 |doi=
*cite journal | author=Aronchik I, Behne MJ, Leypoldt L, "et al." |title=Actin reorganization is abnormal and cellular ATP is decreased in Hailey-Hailey keratinocytes. |journal=J. Invest. Dermatol. |volume=121 |issue= 4 |pages= 681–7 |year= 2003 |pmid= 14632182 |doi= 10.1046/j.1523-1747.2003.12472.x
*cite journal | author=Behne MJ, Tu CL, Aronchik I, "et al." |title=Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores. |journal=J. Invest. Dermatol. |volume=121 |issue= 4 |pages= 688–94 |year= 2003 |pmid= 14632183 |doi= 10.1046/j.1523-1747.2003.12528.x
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Mitchell KJ, Tsuboi T, Rutter GA |title=Role for plasma membrane-related Ca2+-ATPase-1 (ATP2C1) in pancreatic beta-cell Ca2+ homeostasis revealed by RNA silencing. |journal=Diabetes |volume=53 |issue= 2 |pages= 393–400 |year= 2004 |pmid= 14747290 |doi=
*cite journal | author=Fairclough RJ, Lonie L, Van Baelen K, "et al." |title=Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. |journal=J. Invest. Dermatol. |volume=123 |issue= 1 |pages= 67–71 |year= 2004 |pmid= 15191544 |doi= 10.1111/j.0022-202X.2004.22713.x

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