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; OMA:ATP2C1 - orthologs
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 105,280,738 bp [2] End 105,404,518 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte ventricular zone stromal cell of endometrium endothelial cell epithelium of colon islet of Langerhans C1 segment ganglionic eminence Epithelium of choroid plexus Achilles tendon Top expressed in secondary oocyte zygote granulocyte neural layer of retina seminal vesicula dentate gyrus of hippocampal formation granule cell primary oocyte tail of embryo otic placode primary visual cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding calcium ion binding manganese ion binding P-type calcium transporter activity signal transducer activity metal ion binding ABC-type manganese transporter 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: 105.28 – 105.4 Mb PubMed search [3] [4]
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

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, 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.
6. 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.
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, 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.