Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ATP2C1 gene.[5][6][7]
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.[7]
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Hailey Hailey disease
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References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000017260 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032570 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, et al. (January 2000). "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease". Nature Genetics. 24 (1): 61–65. doi:10.1038/71701. PMID 10615129. S2CID 41274246.
- ^ Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, et al. (April 2000). "Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump". Human Molecular Genetics. 9 (7): 1131–1140. doi:10.1093/hmg/9.7.1131. PMID 10767338.
- ^ a b "Entrez Gene: ATP2C1 ATPase, Ca++ transporting, type 2C, member 1".
External links
- Human ATP2C1 genome location and ATP2C1 gene details page in the UCSC Genome Browser.
Further reading
- Missiaen L, Raeymaekers L, Dode L, Vanoevelen J, Van Baelen K, Parys JB, et al. (October 2004). "SPCA1 pumps and Hailey-Hailey disease". Biochemical and Biophysical Research Communications. 322 (4): 1204–1213. doi:10.1016/j.bbrc.2004.07.128. PMID 15336968.
- Ikeda S, Welsh EA, Peluso AM, Leyden W, Duvic M, Woodley DT, Epstein EH (July 1994). "Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q". Human Molecular Genetics. 3 (7): 1147–1150. doi:10.1093/hmg/3.7.1147. PMID 7981684.
- Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 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 Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
- Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata N, et al. (January 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. S2CID 21397515.
- Ton VK, Mandal D, Vahadji C, Rao R (February 2002). "Functional expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease". The Journal of Biological Chemistry. 277 (8): 6422–6427. doi:10.1074/jbc.M110612200. PMID 11741891.
- Dobson-Stone C, Fairclough R, Dunne E, Brown J, Dissanayake M, Munro CS, et al. (February 2002). "Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene". The Journal of Investigative Dermatology. 118 (2): 338–343. doi:10.1046/j.0022-202x.2001.01675.x. PMID 11841554.
- Yokota K, Yasukawa K, Shimizu H (March 2002). "Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease". The Journal of Investigative Dermatology. 118 (3): 550–551. doi:10.1046/j.0022-202x.2001.01686.x. PMID 11874499.
- Chao SC, Tsai YM, Yang MH (April 2002). "Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease". The British Journal of Dermatology. 146 (4): 595–600. doi:10.1046/j.1365-2133.2002.04697.x. PMID 11966689. S2CID 73336691.
- Fairclough RJ, Dode L, Vanoevelen J, Andersen JP, Missiaen L, Raeymaekers L, et al. (July 2003). "Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1)". The Journal of Biological Chemistry. 278 (27): 24721–24730. doi:10.1074/jbc.M300509200. PMID 12707275.
- Matsuda A, Suzuki Y, Honda G, Muramatsu S, Matsuzaki O, Nagano Y, et al. (May 2003). "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways". Oncogene. 22 (21): 3307–3318. doi:10.1038/sj.onc.1206406. PMID 12761501. S2CID 38880905.
- Van Baelen K, Vanoevelen J, Callewaert G, Parys JB, De Smedt H, Raeymaekers L, et al. (June 2003). "The contribution of the SPCA1 Ca2+ pump to the Ca2+ accumulation in the Golgi apparatus of HeLa cells assessed via RNA-mediated interference". Biochemical and Biophysical Research Communications. 306 (2): 430–436. doi:10.1016/S0006-291X(03)00977-X. PMID 12804581.
- Callewaert G, Parys JB, De Smedt H, Raeymaekers L, Wuytack F, Vanoevelen J, et al. (August 2003). "Similar Ca(2+)-signaling properties in keratinocytes and in COS-1 cells overexpressing the secretory-pathway Ca(2+)-ATPase SPCA1". Cell Calcium. 34 (2): 157–162. doi:10.1016/S0143-4160(03)00070-8. PMID 12810057.
- Aronchik I, Behne MJ, Leypoldt L, Crumrine D, Epstein E, Ikeda S, et al. (October 2003). "Actin reorganization is abnormal and cellular ATP is decreased in Hailey-Hailey keratinocytes". The Journal of Investigative Dermatology. 121 (4): 681–687. doi:10.1046/j.1523-1747.2003.12472.x. PMID 14632182.
- Behne MJ, Tu CL, Aronchik I, Epstein E, Bench G, Bikle DD, et al. (October 2003). "Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores". The Journal of Investigative Dermatology. 121 (4): 688–694. doi:10.1046/j.1523-1747.2003.12528.x. PMID 14632183.
- Mitchell KJ, Tsuboi T, Rutter GA (February 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, Haftek M, Munro CS, Burge SM, Hovnanian A (July 2004). "Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels". The Journal of Investigative Dermatology. 123 (1): 67–71. doi:10.1111/j.0022-202X.2004.22713.x. PMID 15191544.
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This page was last edited on 23 December 2023, at 20:06