Calcium-transporting ATPase type 2C member 1

Details

Name
Calcium-transporting ATPase type 2C member 1
Kind
protein
Synonyms
  • 7.2.2.10
  • ATP-dependent Ca(2+) pump PMR1
  • ATPase 2C1
  • Ca(2+)/Mn(2+)-ATPase 2C1
  • KIAA1347
  • PMR1L
  • Secretory pathway Ca(2+)-transporting ATPase type 1
  • SPCA1
Gene Name
ATP2C1
UniProtKB Entry
P98194Swiss-Prot
Organism
Humans
NCBI Taxonomy ID
9606
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 hydrolysis activity / P-type calcium transporter activity / P-type manganese transporter activity
Processes
actin cytoskeleton organization / intracellular calcium ion homeostasis / intracellular manganese ion homeostasis / positive regulation of canonical NF-kappaB signal transduction / positive regulation of Golgi to plasma membrane protein transport / trans-Golgi network membrane organization
Components
cis-Golgi network membrane / endoplasmic reticulum / Golgi cisterna membrane / plasma membrane
General Function
ATP-driven pump that supplies the Golgi apparatus with Ca(2+) and Mn(2+) ions, both essential cofactors for processing and trafficking of newly synthesized proteins in the secretory pathway (PubMed:12707275, PubMed:16192278, PubMed:20439740, PubMed:21187401, PubMed:30923126). Within a catalytic cycle, acquires Ca(2+) or Mn(2+) ions on the cytoplasmic side of the membrane and delivers them to the lumenal side. The transfer of ions across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state (PubMed:16192278, PubMed:16332677, PubMed:30923126). Plays a primary role in the maintenance of Ca(2+) homeostasis in the trans-Golgi compartment with a functional impact on Golgi and post-Golgi protein sorting as well as a structural impact on cisternae morphology (PubMed:14632183, PubMed:20439740). Responsible for loading the Golgi stores with Ca(2+) ions in keratinocytes, contributing to keratinocyte differentiation and epidermis integrity (PubMed:10615129, PubMed:14632183, PubMed:20439740). Participates in Ca(2+) and Mn(2+) ions uptake into the Golgi store of hippocampal neurons and regulates protein trafficking required for neural polarity (By similarity). May also play a role in the maintenance of Ca(2+) and Mn(2+) homeostasis and signaling in the cytosol while preventing cytotoxicity (PubMed:21187401)
Specific Function
ATP binding
Pfam Domain Function
Signal Regions
Not Available
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, trans-Golgi network 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
GeneCard IDATP2C1
GenAtlas IDATP2C1
HGNC IDHGNC:13211
PDB ID(s)7YAG, 7YAH, 7YAI, 7YAJ, 7YAM, 8IWP, 8IWR, 8IWS, 8IWT, 8IWU, 8IWW
KEGG IDhsa:27032
NCBI Gene ID27032
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]
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  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]
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  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]

Associated Data

Drug Relations
DrugDrug groupPharmacological action?TypeActionsDetails
Enfluraneapproved, investigational, vet_approvedunknowntargetinhibitorDetails
Isofluraneapproved, vet_approvedyestargetinhibitorDetails
Methoxyfluraneapproved, investigational, vet_approved, withdrawnunknowntargetinhibitorDetails
CalciumnutraceuticalyestargetagonistDetails