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


RefSeq Accession Definition Services Price Order
NM_014382 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 1, mRNA. ORF Sequence $800.40
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RefSeq Version NM_014382.3, 312836761
Length 4964 bp
Structure linear
Update Date 17-APR-2013
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)680..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
86+dbSNP:
86+c, g, tdbSNP:115940289
110+a, cdbSNP:181664730
126+c, tdbSNP:150899983
290+c, tdbSNP:201306089
329+dbSNP:
329+c, gdbSNP:148243014
336+a, gdbSNP:141384562
387+a, tdbSNP:75927399
450+dbSNP:
450+a, gdbSNP:79951777
468+a, gdbSNP:146272850
502+g, tdbSNP:138085702
503+a, gdbSNP:76522938
554+c, gdbSNP:189282559
659+dbSNP:
659+a, gdbSNP:142366167
680+a, gdbSNP:115477556
702+dbSNP:
702+a, gdbSNP:145434810
704+c, gdbSNP:188006260
735+a, cdbSNP:145930763
746+dbSNP:
746+a, gdbSNP:139529865
749+c, tdbSNP:182847851
869+dbSNP:
869+a, cdbSNP:200602419
907+a, cdbSNP:79479425
907+a, gdbSNP:2760272
925+a, tdbSNP:190083103
957+a, gdbSNP:183517925
957+c, tdbSNP:200427297
958+a, gdbSNP:6810181
1013+dbSNP:
1013+a, gdbSNP:143199078
1048+a, cdbSNP:144647214
1076+a, gdbSNP:4289320
1076+a, gdbSNP:62280756
1104+dbSNP:
1104+a, gdbSNP:200665127
1110+c, tdbSNP:74315579
1155+dbSNP:
1155+a, cdbSNP:13096513
1156+a, gdbSNP:116485868
1188+a, gdbSNP:115968475
1216+a, tdbSNP:61731514
1232+dbSNP:
1232+a, gdbSNP:137853012
1243+a, gdbSNP:191044408
1266+a, cdbSNP:201027935
1273+a, gdbSNP:147959633
1394+dbSNP:
1394+a, gdbSNP:201217185
1426+a, gdbSNP:116460767
1440+c, tdbSNP:200105766
1468+dbSNP:
1468+a, gdbSNP:141822193
1470+c, tdbSNP:137896406
1482+a, gdbSNP:141943316
1496+a, gdbSNP:146243119
1542+dbSNP:
1542+c, tdbSNP:201854784
1567+c, tdbSNP:181545131
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
2105+c, tdbSNP:116094927
2107+a, gdbSNP:200047787
2214+dbSNP:
2214+c, tdbSNP:145949576
2251+a, gdbSNP:113436071
2370+a, gdbSNP:199765678
2389+dbSNP:
2389+c, tdbSNP:148190902
2566+dbSNP:
2566+c, tdbSNP:141229583
2600+c, tdbSNP:150745965
2765+dbSNP:
2765+c, tdbSNP:1053084
2878+dbSNP:
2878+c, gdbSNP:193111792
2920+a, gdbSNP:16835513
2935+a, gdbSNP:144839903
2986+dbSNP:
2986+a, gdbSNP:114499538
3175+, tdbSNP:34966299
3257..3258+, adbSNP:11434122
3310+a, cdbSNP:78540252
3328+a, gdbSNP:188602556
3424+, tdbSNP:200037424
3433+a, tdbSNP:11542183
3575..3579+, tgtaadbSNP:141448272
3759+a, gdbSNP:76326281
3768+a, gdbSNP:150024961
3806+a, gdbSNP:145351517
3837+c, tdbSNP:149202818
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
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 Sequence Price Select
NM_001001485 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 3, mRNA. Full Length $1299.20
ORF Sequence $773.43
NM_001001486 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 4, mRNA. Full Length $1229.90
ORF Sequence $826.50
NM_001001487 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 2, mRNA. Full Length $1219.40
ORF Sequence $817.80
NM_001199179 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 5, mRNA. Full Length $2272.95
ORF Sequence $800.40
NM_001199180 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA. Full Length $1295.70
ORF Sequence $847.38
NM_001199181 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 7, mRNA. Full Length $2268.00
ORF Sequence $829.98
NM_001199182 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 8, mRNA. Full Length $1265.25
ORF Sequence $822.15
NM_001199183 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 9, mRNA. Full Length $1251.25
ORF Sequence $803.88
NM_001199184 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 10, mRNA. Full Length $1719.55
ORF Sequence $786.48
NM_001199185 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 11, mRNA. Full Length $1235.85
ORF Sequence $773.43
NM_014382 Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 1, mRNA. Full Length $1737.40
ORF Sequence $800.40
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,M.G., 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,S.Q., Bakthavachalu,B., Han,J., Patil,D.P., Otsuka,Y., Guda,C. and Schoenberg,D.R.
Journal RNA 18 (6), 1186-1196 (2012)
Title Detection and comparison of two types of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease .
Author Zhang,D., Li,X., Xiao,S., Huo,J., Wang,S. and Zhou,P.
Journal Arch. Dermatol. Res. 304 (2), 163-170 (2012)
Title Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease .
Author Zhang,H.Z., Tian,H.Q., Du,D.H., Wang,G.J., Yan,X.X., Liu,H., Zhou,G.Z., Fu,X.A., Yu,Y.X., Yu,G.Q., Liu,H.X. and Zhang,F.R.
Journal Clin. Exp. Dermatol. 37 (2), 190-193 (2012)
Title Functional expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease .
Author Ton,V.K., 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,C.S., Strachan,T., Burge,S., Sudbrak,R., Monaco,A.P. 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,C.S., Strachan,T., Burge,S., Hovnanian,A. and Monaco,A.P.
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,J.M., Beech,J., Bench,G., Shigihara,T., Ogawa,H., Ikeda,S., Mauro,T. and Epstein,E.H. 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,E.A., Peluso,A.M., Leyden,W., Duvic,M., Woodley,D.T. and Epstein,E.H. Jr.
Journal Hum. Mol. Genet. 3 (7), 1147-1150 (1994)

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