ATP2C1

ATP2C1
Identifiers
Aliases	ATP2C1, ATP2C1A, BCPM, HHD, PMR1, SPCA1, hSPCA1, ATPase secretory pathway Ca2+ transporting 1
External IDs	OMIM: 604384 MGI: 1889008 HomoloGene: 56672 GeneCards: ATP2C1
Gene location (Human)
Chr.	Chromosome 3 (human)[1]
End	131,016,712 bp[1]
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)[2]
End	105,527,319 bp[2]
RNA expression pattern
	; ;
	More reference expression data
Gene ontology
Molecular function	• nucleotide binding; • calcium ion binding; • manganese ion binding; • calcium-transporting ATPase activity; • signal transducer activity; • metal ion binding; • manganese-transporting ATPase activity; • hydrolase activity; • ATP binding;
Cellular component	• integral component of membrane; • Golgi apparatus; • membrane; • Golgi membrane; • trans-Golgi network;
Biological process	• calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; • actin cytoskeleton reorganization; • cellular calcium ion homeostasis; • Golgi calcium ion homeostasis; • ion transport; • ion transmembrane transport; • epidermis development; • positive regulation of I-kappaB kinase/NF-kappaB signaling; • cellular manganese ion homeostasis; • manganese ion transport; • Golgi calcium ion transport; • calcium ion transport; • manganese ion transmembrane transport; • signal transduction; • calcium ion transmembrane transport; • transport;
	Sources:Amigo / QuickGO
Orthologs
	27032
	235574
	ENSG00000017260
	ENSMUSG00000032570
	P98194
	Q80XR2
NM_001001485; NM_001001486; NM_001001487; NM_001199179; NM_001199180;
	NM_001199181; NM_001199182; NM_001199183; NM_001199184; NM_001199185; NM_014382; NM_001378511; NM_001378512; NM_001378513; NM_001378514; NM_001378687
NM_001253831; NM_001253834; NM_001253836; NM_175025; NM_001359822;
	NM_001359823
NP_001001485; NP_001001486; NP_001001487; NP_001186108; NP_001186109;
	NP_001186110; NP_001186111; NP_001186112; NP_001186113; NP_001186114; NP_055197; NP_001365440; NP_001365441; NP_001365442; NP_001365443; NP_001365616
NP_001240760; NP_001240763; NP_001240765; NP_778190; NP_001346751;
	NP_001346752
	Wikidata
View/Edit Human	View/Edit Mouse

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]

References

GRCh38: Ensembl release 89: ENSG00000017260 - Ensembl, May 2017
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, 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. S2CID 41274246.
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.
"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.

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. S2CID 73336691.
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.
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" (PDF). 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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000017260 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000032570 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10615129-5] 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. S2CID 41274246.

[pmid10767338-6] 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.

[entrez-7] "Entrez Gene: ATP2C1 ATPase, Ca++ transporting, type 2C, member 1".

ATP2C1

References

External links

Further reading