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Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant a, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18972 Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant a, mRNA. pcDNA3.1+-DYK On-demand $279.00 12-14
OHu18972C Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant a, mRNA. Customized vector On-demand $329.00 12-14

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_004320.4, 299829200
Length 2985 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant a, mRNA.
Product sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform a
Comment

Summary: This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013].


Transcript Variant: This variant (a) represents the longer transcript but encodes the shorter isoform (a).

RefSeq NP_004311.1
CDS 185..3169
Misc Feature(1)194..400
Misc Feature(2)194..400
Misc Feature(3)329..391
Misc Feature(4)341..3151
Misc Feature(5)452..514
Misc Feature(6)461..1207
Misc Feature(7)944..1003
Misc Feature(8)1070..1123
Misc Feature(9)1292..1384
Misc Feature(10)1436..1768
Misc Feature(11)<2015..2344
Misc Feature(12)2057..2059
Misc Feature(13)2456..2515
Misc Feature(14)2534..3145
Misc Feature(15)2546..2608
Misc Feature(16)2546..2608
Misc Feature(17)2669..2737
Misc Feature(18)2876..2935
Misc Feature(19)2975..3031
Misc Feature(20)3077..3139
Exon (1)1..302
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (2)303..320
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (3)321..403
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (4)404..508
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (5)509..647
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (6)648..728
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (7)729..814
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (8)815..1112
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (9)1113..1279
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (10)1280..1368
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (11)1369..1471
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (12)1472..1603
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (13)1604..1729
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (14)1730..1948
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (15)1949..2284
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (16)2285..2505
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (17)2506..2708
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (18)2709..2794
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (19)2795..2928
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (20)2929..3046
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (21)3047..3164
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (22)3165..3206
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Exon (23)3207..3536
Gene:ATP2A1
Gene Synonym:ATP2A; SERCA1
Translation MEAAHAKTTEECLAYFGVSETTGLTPDQVKRNLEKYGLNELPAEEGKTLWELVIEQFEDL LVRILLLAACISFVLAWFEEGEETITAFVEPFVILLILIANAIVGVWQERNAENAIEALK EYEPEMGKVYRADRKSVQRIKARDIVPGDIVEVAVGDKVPADIRILAIKSTTLRVDQSIL TGESVSVIKHTEPVPDPRAVNQDKKNMLFSGTNIAAGKALGIVATTGVGTEIGKIRDQMA ATEQDKTPLQQKLDEFGEQLSKVISLICVAVWLINIGHFNDPVHGGSWFRGAIYYFKIAV ALAVAAIPEGLPAVITTCLALGTRRMAKKNAIVRSLPSVETLGCTSVICSDKTGTLTTNQ MSVCKMFIIDKVDGDICLLNEFSITGSTYAPEGEVLKNDKPVRPGQYDGLVELATICALC NDSSLDFNEAKGVYEKVGEATETALTTLVEKMNVFNTDVRSLSKVERANACNSVIRQLMK KEFTLEFSRDRKSMSVYCSPAKSSRAAVGNKMFVKGAPEGVIDRCNYVRVGTTRVPLTGP VKEKIMAVIKEWGTGRDTLRCLALATRDTPPKREEMVLDDSARFLEYETDLTFVGVVGML DPPRKEVTGSIQLCRDAGIRVIMITGDNKGTAIAICRRIGIFGENEEVADRAYTGREFDD LPLAEQREACRRACCFARVEPSHKSKIVEYLQSYDEITAMTGDGVNDAPALKKAEIGIAM GSGTAVAKTASEMVLADDNFSTIVAAVEEGRAIYNNMKQFIRYLISSNVGEVVCIFLTAA LGLPEALIPVQLLWVNLVTDGLPATALGFNPPDLDIMDRPPRSPKEPLISGWLFFRYMAI GGYVGAATVGAAAWWFLYAEDGPHVNYSQLTHFMQCTEDNTHFEGIDCEVFEAPEPMTMA LSVLVTIEMCNALNSLSENQSLLRMPPWVNIWLLGSICLSMSLHFLILYVDPLPMIFKLR ALDLTQWLMVLKISLPVIGLDEILKFVARNYLEG
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Position Chain Variation Link
5+dbSNP:
5+a, gdbSNP:145725044
138+, cdbSNP:34875388
163+c, tdbSNP:75273069
173+a, gdbSNP:201334168
183+c, tdbSNP:375892159
185+a, gdbSNP:368689264
218+c, tdbSNP:377560827
228+a, gdbSNP:371085493
284+g, tdbSNP:141559558
293+a, gdbSNP:200428113
complement(311)-dbSNP:
complement(311)-g, adbSNP:1134629
312+c, tdbSNP:150403167
325+dbSNP:
325+g, tdbSNP:180863892
343+a, gdbSNP:148925426
428+dbSNP:
428+a, gdbSNP:375553897
435+c, tdbSNP:146091204
480+c, tdbSNP:369637881
512+dbSNP:
512+c, tdbSNP:368388257
517+c, tdbSNP:139337937
537+a, cdbSNP:371022017
556+a, cdbSNP:376226293
611+c, tdbSNP:368487162
650+dbSNP:
650+a, gdbSNP:369818510
673+c, tdbSNP:199893651
700+a, gdbSNP:202155490
705+a, gdbSNP:149506518
756+dbSNP:
756+c, tdbSNP:147341039
764+a, gdbSNP:201515814
776+c, tdbSNP:121918113
847+dbSNP:
847+c, gdbSNP:113803159
862+c, tdbSNP:6565259
891+a, gdbSNP:142195151
917+a, gdbSNP:150721350
949+a, gdbSNP:200531611
1003+g, tdbSNP:376195273
1023+a, gdbSNP:143777158
1024+a, c, tdbSNP:145160426
1025+a, gdbSNP:182391081
1030+c, tdbSNP:147215405
1052+c, tdbSNP:374313207
1053+a, gdbSNP:368208565
1054+c, tdbSNP:201786788
1078+c, tdbSNP:147584580
1183+dbSNP:
1183+a, gdbSNP:370047680
1223+a, gdbSNP:371545107
1282+dbSNP:
1282+a, gdbSNP:371499620
1290+c, tdbSNP:373299536
1297+a, gdbSNP:199557273
1303+c, tdbSNP:201808866
1308+a, gdbSNP:375138976
1339+c, tdbSNP:142026039
1351+c, tdbSNP:41292388
1352+a, gdbSNP:372270451
1375+dbSNP:
1375+a, gdbSNP:145788219
1391+c, tdbSNP:117350233
1392+a, gdbSNP:149009015
1394+c, tdbSNP:199590209
1408+c, tdbSNP:143812356
1467+a, gdbSNP:138267146
1471+a, gdbSNP:200596448
1486+dbSNP:
1486+c, tdbSNP:141198778
1513+a, gdbSNP:376915313
1526+c, tdbSNP:145073993
1531+a, gdbSNP:181264502
1551+a, gdbSNP:185041245
1554+c, tdbSNP:138880727
1573+a, gdbSNP:368170188
1584+a, gdbSNP:141453876
1602+c, tdbSNP:41292392
1605+dbSNP:
1605+c, tdbSNP:112191718
1611+a, gdbSNP:150068594
1637+c, tdbSNP:372505425
1649+a, cdbSNP:371090069
1708+a, gdbSNP:187563462
1742+dbSNP:
1742+a, gdbSNP:192725170
1744+c, tdbSNP:138565447
1745+a, gdbSNP:200092983
1755+a, gdbSNP:140944847
1768+a, gdbSNP:201087326
1784+c, tdbSNP:376651574
1785+a, gdbSNP:149334947
1790+c, tdbSNP:200872921
1798+a, gdbSNP:12596913
1798+c, tdbSNP:386505891
1803+c, tdbSNP:114675305
1804+a, gdbSNP:184560545
1851+a, gdbSNP:367801838
1901+c, tdbSNP:371058445
1906+a, gdbSNP:145043756
1933+a, gdbSNP:147132478
1950+dbSNP:
1950+c, tdbSNP:200285714
1951+a, gdbSNP:148638285
1964+a, gdbSNP:142091964
1984+a, g, tdbSNP:201713188
1987+c, tdbSNP:201500178
1992+c, tdbSNP:371822329
1993+a, gdbSNP:151309999
2021+c, tdbSNP:200668562
2032+c, tdbSNP:199776484
2035+c, tdbSNP:140547832
2083+c, tdbSNP:150069670
2089+c, tdbSNP:374850544
2093+c, tdbSNP:367563402
2094+a, gdbSNP:182084601
2096+c, tdbSNP:201738416
2100+c, tdbSNP:146632347
2120+c, gdbSNP:141394193
2132+a, gdbSNP:74573581
2135+c, tdbSNP:200278446
2137+c, tdbSNP:200969176
2142+a, gdbSNP:138788073
2145+c, tdbSNP:148957878
2151+g, tdbSNP:143704560
2158+c, tdbSNP:61626938
2159+a, gdbSNP:373775722
2171+c, gdbSNP:375948769
2184+a, gdbSNP:141250244
2196+a, gdbSNP:200834922
2198+c, tdbSNP:201306038
2199+a, gdbSNP:147395745
2209+a, cdbSNP:121918114
2212+c, tdbSNP:140078242
2230+a, gdbSNP:150380125
2333+dbSNP:
2333+g, tdbSNP:369026695
2360+a, gdbSNP:368188148
2422+c, tdbSNP:143682258
2431+, gdbSNP:375103539
2438+a, gdbSNP:201798363
2494+c, tdbSNP:7192781
2550+dbSNP:
2550+c, tdbSNP:121918115
2615+a, cdbSNP:200376448
2619+c, tdbSNP:369691735
2629+c, tdbSNP:377762806
2642+a, cdbSNP:149282970
2663+a, cdbSNP:200446142
2711+dbSNP:
2711+a, tdbSNP:144485421
2720+a, gdbSNP:186012808
2721+c, tdbSNP:367983112
2728+a, cdbSNP:370857311
2758+c, tdbSNP:368234110
2767+c, tdbSNP:77346383
2779+, cdbSNP:398124554
2815+dbSNP:
2815+c, gdbSNP:369179562
2854+c, tdbSNP:201014240
2866+c, tdbSNP:148569629
2879+a, gdbSNP:373480720
2936+dbSNP:
2936+a, gdbSNP:376101862
2958..2959+, tdbSNP:398124555
3010+c, gdbSNP:144420308
3030+a, gdbSNP:370461278
3045+c, tdbSNP:201113816
3105+dbSNP:
3105+c, tdbSNP:371827833
3113+a, gdbSNP:201253536
3127+c, tdbSNP:146599017
3142+c, tdbSNP:374856682
3143+c, gdbSNP:200445830
3151+c, gdbSNP:372107778
3168+dbSNP:
3168+a, gdbSNP:375944523
3169+a, cdbSNP:371763426
3178..3180+, cctdbSNP:200277301
3181+c, tdbSNP:189066218
3190+c, gdbSNP:17358656
3191..3192+, ttdbSNP:373458426
3197+c, tdbSNP:374078531
3233+dbSNP:
3233+a, gdbSNP:10499
3243+a, gdbSNP:201849283
3254+c, tdbSNP:375723626
3258+a, cdbSNP:201185506
3272+c, tdbSNP:368850176
3291+a, gdbSNP:373028295
3343+a, gdbSNP:140984847
3483+a, gdbSNP:144919265
3530+c, tdbSNP:114173613
Gene SymbolATP2A1
Gene SynonymATP2A; SERCA1
Chromosome16
Locus Map16p12.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_173201 Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA. On-demand $1699.00 25
NM_001286075 Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant c, mRNA. On-demand $279.00 12-14
NM_004320 Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant a, mRNA. On-demand $279.00 12-14
Title SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers .
Author Guglielmi V, Vattemi G, Gualandi F, Voermans NC, Marini M, Scotton C, Pegoraro E, Oosterhof A, Kosa M, Zador E, Valente EM, De Grandis D, Neri M, Codemo V, Novelli A, van Kuppevelt TH, Dallapiccola B, van Engelen BG, Ferlini A and Tomelleri G.
Journal Mol. Genet. Metab. 110 (1-2), 162-169 (2013)
Title Regulation of the alternative splicing of sarcoplasmic reticulum Ca(2)(+)-ATPase1 (SERCA1) by phorbol 12-myristate 13-acetate (PMA) via a PKC pathway .
Author Zhao Y, Koebis M, Suo S, Ohno S and Ishiura S.
Journal Biochem. Biophys. Res. Commun. 423 (2), 212-217 (2012)
Title Structural topology of phospholamban pentamer in lipid bilayers by a hybrid solution and solid-state NMR method .
Author Verardi R, Shi L, Traaseth NJ, Walsh N and Veglia G.
Journal Proc. Natl. Acad. Sci. U.S.A. 108 (22), 9101-9106 (2011)
Title Atypical fast SERCA1a protein expression in slow myofibers and differential S-nitrosylation prevented by exercise during long term bed rest .
Author Salanova M, Schiffl G and Blottner D.
Journal Histochem. Cell Biol. 132 (4), 383-394 (2009)
Title Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity .
Author Thorleifsson G, Walters GB, Gudbjartsson DF, Steinthorsdottir V, Sulem P, Helgadottir A, Styrkarsdottir U, Gretarsdottir S, Thorlacius S, Jonsdottir I, Jonsdottir T, Olafsdottir EJ, Olafsdottir GH, Jonsson T, Jonsson F, Borch-Johnsen K, Hansen T, Andersen G, Jorgensen T, Lauritzen T, Aben KK, Verbeek AL, Roeleveld N, Kampman E, Yanek LR, Becker LC, Tryggvadottir L, Rafnar T, Becker DM, Gulcher J, Kiemeney LA, Pedersen O, Kong A, Thorsteinsdottir U and Stefansson K.
Journal Nat. Genet. 41 (1), 18-24 (2009)
Title Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil .
Author Benders AA, Veerkamp JH, Oosterhof A, Jongen PJ, Bindels RJ, Smit LM, Busch HF and Wevers RA.
Journal J. Clin. Invest. 94 (2), 741-748 (1994)
Title Adenosine triphosphatases during maturation of cultured human skeletal muscle cells and in adult human muscle .
Author Benders AG, van Kuppevelt TH, Oosterhof A, Wevers RA and Veerkamp JH.
Journal Biochim. Biophys. Acta 1112 (1), 89-98 (1992)
Title Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12 .
Author Callen DF, Baker E, Lane S, Nancarrow J, Thompson A, Whitmore SA, MacLennan DH, Berger R, Cherif D and Jarvela I.
Journal Am. J. Hum. Genet. 49 (6), 1372-1377 (1991)
Title Fast-twitch and slow-twitch/cardiac Ca2+ ATPase genes map to human chromosomes 16 and 12 .
Author MacLennan DH, Brandl CJ, Champaneria S, Holland PC, Powers VE and Willard HF.
Journal Somat. Cell Mol. Genet. 13 (4), 341-346 (1987)
Title Two Ca2+ ATPase genes: homologies and mechanistic implications of deduced amino acid sequences .
Author Brandl,C.J., Green,N.M., Korczak,B. and MacLennan,D.H.
Journal Cell 44 (4), 597-607 (1986)

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