Calcium-transporting ATPase type 2C member 1

Details

Name
Calcium-transporting ATPase type 2C member 1
Synonyms
  • 3.6.3.8
  • ATP-dependent Ca(2+) pump PMR1
  • ATPase 2C1
  • KIAA1347
  • PMR1L
Gene Name
ATP2C1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0000435|Calcium-transporting ATPase type 2C member 1
MKVARFQKIPNGENETMIPVLTSKKASELPVSEVASILQADLQNGLNKCEVSHRRAFHGW
NEFDISEDEPLWKKYISQFKNPLIMLLLASAVISVLMHQFDDAVSITVAILIVVTVAFVQ
EYRSEKSLEELSKLVPPECHCVREGKLEHTLARDLVPGDTVCLSVGDRVPADLRLFEAVD
LSIDESSLTGETTPCSKVTAPQPAATNGDLASRSNIAFMGTLVRCGKAKGVVIGTGENSE
FGEVFKMMQAEEAPKTPLQKSMDLLGKQLSFYSFGIIGIIMLVGWLLGKDILEMFTISVS
LAVAAIPEGLPIVVTVTLALGVMRMVKKRAIVKKLPIVETLGCCNVICSDKTGTLTKNEM
TVTHIFTSDGLHAEVTGVGYNQFGEVIVDGDVVHGFYNPAVSRIVEAGCVCNDAVIRNNT
LMGKPTEGALIALAMKMGLDGLQQDYIRKAEYPFSSEQKWMAVKCVHRTQQDRPEICFMK
GAYEQVIKYCTTYQSKGQTLTLTQQQRDVYQQEKARMGSAGLRVLALASGPELGQLTFLG
LVGIIDPPRTGVKEAVTTLIASGVSIKMITGDSQETAVAIASRLGLYSKTSQSVSGEEID
AMDVQQLSQIVPKVAVFYRASPRHKMKIIKSLQKNGSVVAMTGDGVNDAVALKAADIGVA
MGQTGTDVCKEAADMILVDDDFQTIMSAIEEGKGIYNNIKNFVRFQLSTSIAALTLISLA
TLMNFPNPLNAMQILWINIIMDGPPAQSLGVEPVDKDVIRKPPRNWKDSILTKNLILKIL
VSSIIIVCGTLFVFWRELRDNVITPRDTTMTFTCFVFFDMFNALSSRSQTKSVFEIGLCS
NRMFCYAVLGSIMGQLLVIYFPPLQKVFQTESLSILDLLFLLGLTSSVCIVAEIIKKVER
SREKIQKHVSSTSSSFLEV
Number of residues
919
Molecular Weight
100576.42
Theoretical pI
6.72
GO Classification
Functions
ATP binding / calcium ion binding / calcium-transporting ATPase activity / manganese ion binding / manganese-transporting ATPase activity / metal ion binding / signal transducer activity
Processes
actin cytoskeleton reorganization / calcium ion transmembrane transport / calcium ion transport / calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules / cellular calcium ion homeostasis / cellular manganese ion homeostasis / epidermis development / Golgi calcium ion homeostasis / Golgi calcium ion transport / ion transmembrane transport / manganese ion transmembrane transport / manganese ion transport / positive regulation of I-kappaB kinase/NF-kappaB signaling / signal transduction / transmembrane transport
Components
Golgi apparatus / Golgi membrane / integral component of membrane / integral component of plasma membrane / membrane / trans-Golgi network
General Function
Signal transducer activity
Specific Function
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.
Pfam Domain Function
Transmembrane Regions
71-91 105-123 263-282 295-312 700-719 730-750 771-793 809-828 842-860 876-896
Cellular Location
Golgi apparatus membrane
Gene sequence
>lcl|BSEQ0018927|Calcium-transporting ATPase type 2C member 1 (ATP2C1)
ATGAAGGTTGCACGTTTTCAAAAAATACCTAATGGTGAAAATGAGACAATGATTCCTGTA
TTGACATCAAAAAAAGCAAGTGAATTACCAGTCAGTGAAGTTGCAAGCATTCTCCAAGCT
GATCTTCAGAATGGTCTAAACAAATGTGAAGTTAGTCATAGGCGAGCCTTTCATGGCTGG
AATGAGTTTGATATTAGTGAAGATGAGCCACTGTGGAAGAAGTATATTTCTCAGTTTAAA
AATCCCCTTATTATGCTGCTTCTGGCTTCTGCAGTCATCAGTGTTTTAATGCATCAGTTT
GATGATGCCGTCAGTATCACTGTGGCAATACTTATCGTTGTTACAGTTGCCTTTGTTCAG
GAATATCGTTCAGAAAAATCTCTTGAAGAATTGAGTAAACTTGTGCCACCAGAATGCCAT
TGTGTGCGTGAAGGAAAATTGGAGCATACACTTGCCCGAGACTTGGTTCCAGGTGATACA
GTTTGCCTTTCTGTTGGGGATAGAGTTCCTGCTGACTTACGCTTGTTTGAGGCTGTGGAT
CTTTCCATTGATGAGTCCAGCTTGACAGGTGAGACAACGCCTTGTTCTAAGGTGACAGCT
CCTCAGCCAGCTGCAACTAATGGAGATCTTGCATCGAGAAGTAACATTGCCTTTATGGGA
ACACTGGTCAGATGTGGCAAAGCAAAGGGTGTTGTCATTGGAACAGGAGAAAATTCTGAA
TTTGGGGAGGTTTTTAAAATGATGCAAGCAGAAGAGGCACCAAAAACCCCTCTGCAGAAG
AGCATGGACCTCTTAGGAAAACAACTTTCCTTTTACTCCTTTGGTATAATAGGAATCATC
ATGTTGGTTGGCTGGTTACTGGGAAAAGATATCCTGGAAATGTTTACTATTAGTGTAAGT
TTGGCTGTAGCAGCAATTCCTGAAGGTCTCCCCATTGTGGTCACAGTGACGCTAGCTCTT
GGTGTTATGAGAATGGTGAAGAAAAGGGCCATTGTGAAAAAGCTGCCTATTGTTGAAACT
CTGGGCTGCTGTAATGTGATTTGTTCAGATAAAACTGGAACACTGACGAAGAATGAAATG
ACTGTTACTCACATATTTACTTCAGATGGTCTGCATGCTGAGGTTACTGGAGTTGGCTAT
AATCAATTTGGGGAAGTGATTGTTGATGGTGATGTTGTTCATGGATTCTATAACCCAGCT
GTTAGCAGAATTGTTGAGGCGGGCTGTGTGTGCAATGATGCTGTAATTAGAAACAATACT
CTAATGGGGAAGCCAACAGAAGGGGCCTTAATTGCTCTTGCAATGAAGATGGGTCTTGAT
GGACTTCAACAAGACTACATCAGAAAAGCTGAATACCCTTTTAGCTCTGAGCAAAAGTGG
ATGGCTGTTAAGTGTGTACACCGAACACAGCAGGACAGACCAGAGATTTGTTTTATGAAA
GGTGCTTACGAACAAGTAATTAAGTACTGTACTACATACCAGAGCAAAGGGCAGACCTTG
ACACTTACTCAGCAGCAGAGAGATGTGTACCAACAAGAGAAGGCACGCATGGGCTCAGCG
GGACTCAGAGTTCTTGCTTTGGCTTCTGGTCCTGAACTGGGACAGCTGACATTTCTTGGC
TTGGTGGGAATCATTGATCCACCTAGAACTGGTGTGAAAGAAGCTGTTACAACACTCATT
GCCTCAGGAGTATCAATAAAAATGATTACTGGAGATTCACAGGAGACTGCAGTTGCAATC
GCCAGTCGTCTGGGATTGTATTCCAAAACTTCCCAGTCAGTCTCAGGAGAAGAAATAGAT
GCAATGGATGTTCAGCAGCTTTCACAAATAGTACCAAAGGTTGCAGTATTTTACAGAGCT
AGCCCAAGGCACAAGATGAAAATTATTAAGTCGCTACAGAAGAACGGTTCAGTTGTAGCC
ATGACAGGAGATGGAGTAAATGATGCAGTTGCTCTGAAGGCTGCAGACATTGGAGTTGCG
ATGGGCCAGACTGGTACAGATGTTTGCAAAGAGGCAGCAGACATGATCCTAGTGGATGAT
GATTTTCAAACCATAATGTCTGCAATCGAAGAGGGTAAAGGGATTTATAATAACATTAAA
AATTTCGTTAGATTCCAGCTGAGCACGAGTATAGCAGCATTAACTTTAATCTCATTGGCT
ACATTAATGAACTTTCCTAATCCTCTCAATGCCATGCAGATTTTGTGGATCAATATTATT
ATGGATGGACCCCCAGCTCAGAGCCTTGGAGTAGAACCAGTGGATAAAGATGTCATTCGT
AAACCTCCTCGCAACTGGAAAGACAGCATTTTGACTAAAAACTTGATACTTAAAATACTT
GTTTCATCAATAATCATTGTTTGTGGGACTTTGTTTGTCTTCTGGCGTGAGCTACGAGAC
AATGTGATTACACCTCGAGACACAACAATGACCTTCACATGCTTTGTGTTTTTTGACATG
TTCAATGCACTAAGTTCCAGATCCCAGACCAAGTCTGTGTTTGAGATTGGACTCTGCAGT
AATAGAATGTTTTGCTATGCAGTTCTTGGATCCATCATGGGACAATTACTAGTTATTTAC
TTTCCTCCGCTTCAGAAGGTTTTTCAGACTGAGAGCCTAAGCATACTGGGTCTGGCTCTG
GGAGAGGAGTGGACAGCAGCTGGTTGA
Chromosome Location
3
Locus
3q22.1
External Identifiers
ResourceLink
UniProtKB IDP98194
UniProtKB Entry NameAT2C1_HUMAN
GenBank Protein ID6715131
GenBank Gene IDAF181120
GenAtlas IDATP2C1
HGNC IDHGNC:13211
General References
  1. Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr: Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet. 2000 Jan;24(1):61-5. [Article]
  2. 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: Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Hum Mol Genet. 2000 Apr 12;9(7):1131-40. [Article]
  3. Fairclough RJ, Dode L, Vanoevelen J, Andersen JP, Missiaen L, Raeymaekers L, Wuytack F, Hovnanian A: Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1). J Biol Chem. 2003 Jul 4;278(27):24721-30. Epub 2003 Apr 21. [Article]
  4. Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O: 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. 2000 Feb 28;7(1):65-73. [Article]
  5. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [Article]
  6. Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C, Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X, Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M, Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L, Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor SL, Yang H, Olson M, Weinstock G, Gibbs RA: The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27;440(7088):1194-8. [Article]
  7. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  8. Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata N, Zimbello R, Lanfranchi G, Valle G: Characterization of 16 novel human genes showing high similarity to yeast sequences. Yeast. 2001 Jan 15;18(1):69-80. [Article]
  9. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. [Article]
  10. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [Article]
  11. Dobson-Stone C, Fairclough R, Dunne E, Brown J, Dissanayake M, Munro CS, Strachan T, Burge S, Sudbrak R, Monaco AP, Hovnanian A: Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. J Invest Dermatol. 2002 Feb;118(2):338-43. [Article]
  12. Yokota K, Yasukawa K, Shimizu H: Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease. J Invest Dermatol. 2002 Mar;118(3):550-1. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00228Enfluraneapproved, investigational, vet_approvedunknowninhibitorDetails
DB00753Isofluraneapproved, vet_approvedyesinhibitorDetails
DB01028Methoxyfluraneapproved, investigational, vet_approvedunknowninhibitorDetails
DB01236Sevofluraneapproved, vet_approvedyesinhibitorDetails
DB01373CalciumnutraceuticalyesagonistDetails
DB01189DesfluraneapprovedyesinhibitorDetails