ATP2C1
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ATP2C1
Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ATP2C1 gene.[1][2][3]
This gene encodes one of the SPCA proteins, a Ca2+ ion-transporting P-type ATPase. 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.[3]
References
- ^ Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr (Feb 2000). "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease". Nat Genet 24 (1): 61–5. doi:10.1038/71701. PMID 10615129.
- ^ Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larregue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP (Jun 2000). "Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump". Hum Mol Genet 9 (7): 1131–40. doi:10.1093/hmg/9.7.1131. PMID 10767338.
- ^ a b "Entrez Gene: ATP2C1 ATPase, Ca++ transporting, type 2C, member 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27032.
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.
- 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. doi:10.1093/hmg/3.7.1147. PMID 7981684.
- 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. doi:10.1093/dnares/7.1.65. PMID 10718198.
- 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.
- 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.
- 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.
- 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.
- 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. doi:10.1046/j.1365-2133.2002.04697.x. PMID 11966689.
- 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- 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.
- 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.
- 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. doi:10.1016/S0006-291X(03)00977-X. PMID 12804581.
- 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. doi:10.1016/S0143-4160(03)00070-8. PMID 12810057.
- 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.
- 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.
- 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.
- 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. doi:10.2337/diabetes.53.2.393. PMID 14747290.
- 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.
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