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Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_014382 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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RefSeq Version NM_014382.3, 312836761
Length 4964 bp
Structure linear
Update Date 16-MAR-2014
Organism Homo sapiens (human)
Definition Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 1, mRNA.
Product calcium-transporting ATPase type 2C member 1 isoform 1a
Comment

Summary: The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011].


Transcript Variant: This variant (1) has an alternate 5' exon, lacks the 3' exon and contains an alternate 3' segment, as compared to variant 6. The resulting isoform (1a) has shorter and distinct N- and C-termini, as compared to isoform 2a. Variants 1 and 5 encode the same isoform 1a.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_055197.2
CDS 323..3082
Misc Feature(1)290..292
Misc Feature(2)389..3031
Misc Feature(3)389..3031
Misc Feature(4)398..604
Misc Feature(5)533..595
Misc Feature(6)635..691
Misc Feature(7)638..1342
Misc Feature(8)1109..1168
Misc Feature(9)1205..1258
Misc Feature(10)1547..1801
Misc Feature(11)1973..2305
Misc Feature(12)2030..2032
Misc Feature(13)2420..2479
Misc Feature(14)2498..3016
Misc Feature(15)2510..2572
Misc Feature(16)2633..2701
Misc Feature(17)2747..2806
Misc Feature(18)2846..2902
Misc Feature(19)2948..3010
Exon (1)1..328
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (2)329..439
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (3)440..556
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (4)557..646
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (5)647..682
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (6)683..744
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (7)745..853
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (8)854..1009
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (9)1010..1078
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (10)1079..1154
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (11)1155..1221
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (12)1222..1346
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (13)1347..1444
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (14)1445..1540
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (15)1541..1630
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (16)1631..1735
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (17)1736..1892
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (18)1893..2063
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (19)2064..2161
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (20)2162..2212
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (21)2213..2379
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (22)2380..2448
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (23)2449..2565
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (24)2566..2713
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (25)2714..2809
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (26)2810..2951
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Exon (27)2952..4934
Gene:ATP2C1
Gene Synonym:ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Translation MKVARFQKIPNGENETMIPVLTSKKASELPVSEVASILQADLQNGLNKCEVSHRRAFHGW NEFDISEDEPLWKKYISQFKNPLIMLLLASAVISVLMHQFDDAVSITVAILIVVTVAFVQ EYRSEKSLEELSKLVPPECHCVREGKLEHTLARDLVPGDTVCLSVGDRVPADLRLFEAVD LSIDESSLTGETTPCSKVTAPQPAATNGDLASRSNIAFMGTLVRCGKAKGVVIGTGENSE FGEVFKMMQAEEAPKTPLQKSMDLLGKQLSFYSFGIIGIIMLVGWLLGKDILEMFTISVS LAVAAIPEGLPIVVTVTLALGVMRMVKKRAIVKKLPIVETLGCCNVICSDKTGTLTKNEM TVTHIFTSDGLHAEVTGVGYNQFGEVIVDGDVVHGFYNPAVSRIVEAGCVCNDAVIRNNT LMGKPTEGALIALAMKMGLDGLQQDYIRKAEYPFSSEQKWMAVKCVHRTQQDRPEICFMK GAYEQVIKYCTTYQSKGQTLTLTQQQRDVYQQEKARMGSAGLRVLALASGPELGQLTFLG LVGIIDPPRTGVKEAVTTLIASGVSIKMITGDSQETAVAIASRLGLYSKTSQSVSGEEID AMDVQQLSQIVPKVAVFYRASPRHKMKIIKSLQKNGSVVAMTGDGVNDAVALKAADIGVA MGQTGTDVCKEAADMILVDDDFQTIMSAIEEGKGIYNNIKNFVRFQLSTSIAALTLISLA TLMNFPNPLNAMQILWINIIMDGPPAQSLGVEPVDKDVIRKPPRNWKDSILTKNLILKIL VSSIIIVCGTLFVFWRELRDNVITPRDTTMTFTCFVFFDMFNALSSRSQTKSVFEIGLCS NRMFCYAVLGSIMGQLLVIYFPPLQKVFQTESLSILDLLFLLGLTSSVCIVAEIIKKVER SREKIQKHVSSTSSSFLEV
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Position Chain Variation Link
29+dbSNP:
29+a, cdbSNP:376276217
86+c, g, tdbSNP:115940289
110+a, cdbSNP:181664730
126+c, tdbSNP:150899983
290+c, tdbSNP:201306089
307+a, gdbSNP:375566516
329+dbSNP:
329+c, gdbSNP:148243014
336+a, gdbSNP:141384562
421+a, gdbSNP:369329097
468+dbSNP:
468+a, gdbSNP:146272850
502+g, tdbSNP:138085702
503+a, gdbSNP:76522938
659+dbSNP:
659+a, gdbSNP:142366167
702+dbSNP:
702+a, cdbSNP:370168782
735+a, cdbSNP:145930763
746+dbSNP:
746+a, gdbSNP:139529865
749+c, tdbSNP:182847851
808+c, tdbSNP:368726188
822+a, gdbSNP:372317337
869+dbSNP:
869+a, cdbSNP:200602419
complement(907)-g, adbSNP:2760272
957+c, tdbSNP:200427297
958+a, gdbSNP:6810181
1013+dbSNP:
1013+a, gdbSNP:143199078
1069+a, gdbSNP:370992502
1076+a, gdbSNP:4289320
1104+dbSNP:
1104+a, gdbSNP:200665127
1132+c, tdbSNP:377696166
1156+dbSNP:
1156+a, gdbSNP:116485868
1169+a, gdbSNP:369944125
1198+a, gdbSNP:374036911
1216+a, tdbSNP:61731514
1232+dbSNP:
1232+a, gdbSNP:137853012
1266+a, cdbSNP:201027935
1273+a, gdbSNP:147959633
1290+c, tdbSNP:369940049
1394+dbSNP:
1394+a, gdbSNP:201217185
1426+a, gdbSNP:116460767
1433+c, tdbSNP:368337412
1434+a, tdbSNP:372425288
1440+c, tdbSNP:200105766
1468+dbSNP:
1468+a, gdbSNP:141822193
1470+a, c, tdbSNP:137896406
1512+a, gdbSNP:369250519
1542+dbSNP:
1542+c, tdbSNP:201854784
1562+a, gdbSNP:376162348
1578+a, gdbSNP:370539073
1586+a, tdbSNP:145370264
1588+a, gdbSNP:115441492
1670+dbSNP:
1670+a, gdbSNP:41434650
1676+c, tdbSNP:114743659
1724+c, tdbSNP:137853013
1762+dbSNP:
1762+a, gdbSNP:11542182
1764+a, gdbSNP:141010361
1791+g, tdbSNP:137853014
1825+a, gdbSNP:150217507
1932+dbSNP:
1932+a, cdbSNP:113724048
1937+c, gdbSNP:138617225
1945+c, gdbSNP:61731516
1982+c, gdbSNP:201861630
1996+a, gdbSNP:145413274
2005+c, tdbSNP:114319700
2008+a, gdbSNP:115516433
2012+a, gdbSNP:142641883
2070+dbSNP:
2070+a, gdbSNP:200576649
2073+c, tdbSNP:137853015
2074+a, gdbSNP:368679995
2105+c, tdbSNP:116094927
2107+a, gdbSNP:200047787
2124+a, cdbSNP:375115576
2214+dbSNP:
2214+c, tdbSNP:145949576
2251+a, gdbSNP:113436071
2370+a, gdbSNP:199765678
2389+dbSNP:
2389+c, tdbSNP:148190902
2449+dbSNP:
2449+a, gdbSNP:267599607
2507+c, gdbSNP:371236506
2600+dbSNP:
2600+c, tdbSNP:150745965
2635+a, gdbSNP:369430850
2765+dbSNP:
2765+c, tdbSNP:1053084
2823+dbSNP:
2823+g, tdbSNP:375112180
2878+c, gdbSNP:193111792
2920+a, gdbSNP:16835513
2935+a, gdbSNP:144839903
2986+dbSNP:
2986+a, gdbSNP:114499538
3055+a, gdbSNP:372102536
3179+, tdbSNP:34966299
3310+a, cdbSNP:78540252
3328+a, gdbSNP:188602556
3424+, tdbSNP:200037424
complement(3433)-t, adbSNP:11542183
3490+c, tdbSNP:373315400
3575..3579+, tgtaadbSNP:141448272
3701+c, tdbSNP:372638968
3759+a, gdbSNP:76326281
complement(3768)-g, adbSNP:150024961
3806+a, gdbSNP:145351517
3837+c, tdbSNP:149202818
3907+c, tdbSNP:374738042
3963+a, gdbSNP:181188000
4013+c, gdbSNP:186817851
4080+c, tdbSNP:116671177
4313+a, tdbSNP:190081792
4508+c, tdbSNP:142449501
4552+a, gdbSNP:147964547
4615+g, tdbSNP:182142799
4627+a, gdbSNP:372789446
4634+a, cdbSNP:186240603
4902+a, gdbSNP:72628536
4921+a, gdbSNP:141516276
4930+c, tdbSNP:12330546
Gene SymbolATP2C1
Gene SynonymATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1
Chromosome3
Locus Map3q22.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001199182 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 8, mRNA. On-demand $899.00 20
NM_001001487 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 2, mRNA. On-demand $899.00 20
NM_001199180 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA. On-demand $899.00 20
NM_001199181 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 7, mRNA. On-demand $899.00 20
NM_014382 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 1, mRNA. On-demand $899.00 20
NM_001199184 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 10, mRNA. On-demand $899.00 20
NM_001001485 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 3, mRNA. On-demand $899.00 20
NM_001199179 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 5, mRNA. On-demand $899.00 20
NM_001199183 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 9, mRNA. On-demand $899.00 20
NM_001199185 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 11, mRNA. On-demand $899.00 20
NM_001001486 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 4, mRNA. On-demand $899.00 20
XM_005247354 PREDICTED: Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant X1, mRNA. On-demand $899.00 20
XM_005247355 PREDICTED: Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant X2, mRNA. On-demand $899.00 20
XM_006713585 PREDICTED: Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant X7, mRNA. On-demand $899.00 20
XM_005247356 PREDICTED: Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant X3, mRNA. On-demand $899.00 20
XM_005247357 PREDICTED: Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant X4, mRNA. On-demand $899.00 20
XM_005247358 PREDICTED: Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant X5, mRNA. On-demand $899.00 20
XM_005247359 PREDICTED: Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant X6, mRNA. On-demand $899.00 20
Title Sibling cases of Hailey-Hailey disease showing atypical clinical features and unique disease course .
Author Iijima S, Hamada T, Kanzaki M, Ohata C and Hashimoto T.
Journal JAMA Dermatol 150 (1), 97-99 (2014)
Title Six novel mutations of ATP2C1 identified in eight Chinese patients with Hailey-Hailey disease .
Author Tian,H., Chen,M., You,J., Fu,X., Liu,H., Shi,Z., Yu,M., Wu,M., Yu,Y., Yu,G. and Zhang,F.
Journal Indian J Dermatol Venereol Leprol 79 (2), 245-247 (2013)
Title Four novel mutations of the ATP2C1 gene in Chinese patients are associated with familial benign chronic pemphigus .
Author Li,X., Zhang,D., Xiao,S. and Peng,Z.
Journal Clin. Exp. Dermatol. 37 (7), 797-799 (2012)
Title Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+) /Mn(2+) ATPase SPCA1 in cultured keratinocytes .
Author Raiko L, Siljamaki E, Mahoney MG, Putaala H, Suominen E, Peltonen J and Peltonen S.
Journal Exp. Dermatol. 21 (8), 586-591 (2012)
Title Identification of the human PMR1 mRNA endonuclease as an alternatively processed product of the gene for peroxidasin-like protein .
Author Gu SQ, Bakthavachalu B, Han J, Patil DP, Otsuka Y, Guda C and Schoenberg DR.
Journal RNA 18 (6), 1186-1196 (2012)
Title Functional expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease .
Author Ton VK, Mandal D, Vahadji C and Rao R.
Journal J. Biol. Chem. 277 (8), 6422-6427 (2002)
Title Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene .
Author Dobson-Stone C, Fairclough R, Dunne E, Brown J, Dissanayake M, Munro CS, Strachan T, Burge S, Sudbrak R, Monaco AP and Hovnanian A.
Journal J. Invest. Dermatol. 118 (2), 338-343 (2002)
Title Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump .
Author 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 and Monaco AP.
Journal Hum. Mol. Genet. 9 (7), 1131-1140 (2000)
Title Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease .
Author Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T and Epstein EH Jr.
Journal Nat. Genet. 24 (1), 61-65 (2000)
Title Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q .
Author Ikeda S, Welsh EA, Peluso AM, Leyden W, Duvic M, Woodley DT and Epstein EH Jr.
Journal Hum. Mol. Genet. 3 (7), 1147-1150 (1994)

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