ATP2C1

Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ATP2C1 gene.[5][6][7]

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] Band 3q22.1 Start 130,850,595 bp[1] End 131,016,712 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 F1 Start 105,403,539 bp[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
Species	Human	Mouse
Entrez	27032	235574
Ensembl	ENSG00000017260	ENSMUSG00000032570
UniProt	P98194	Q80XR2
RefSeq (mRNA)	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
RefSeq (protein)	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
Location (UCSC)	Chr 3: 130.85 – 131.02 Mb	Chr 9: 105.4 – 105.53 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000017260 - Ensembl, May 2017
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.
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.
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.
7. "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, 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.