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


RefSeq Accession Definition Services Price Order
NM_004320 Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant a, mRNA. ORF Sequence $865.65
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RefSeq Version NM_004320.4, 299829200
Length 3570 bp
Structure linear
Update Date 17-APR-2013
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 two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].


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)485..1207
Misc Feature(7)944..1003
Misc Feature(8)1070..1123
Misc Feature(9)1292..1384
Misc Feature(10)1436..1768
Misc Feature(11)<1976..2320
Misc Feature(12)2456..2515
Misc Feature(13)2534..3145
Misc Feature(14)2546..2608
Misc Feature(15)2546..2608
Misc Feature(16)2669..2737
Misc Feature(17)2876..2935
Misc Feature(18)2975..3031
Misc Feature(19)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
284+g, tdbSNP:141559558
293+a, gdbSNP:200428113
311+dbSNP:
311+a, gdbSNP:1134629
312+c, tdbSNP:150403167
325+dbSNP:
325+g, tdbSNP:180863892
343+a, gdbSNP:148925426
391+a, cdbSNP:142892095
435+dbSNP:
435+c, tdbSNP:146091204
517+dbSNP:
517+c, tdbSNP:139337937
673+dbSNP:
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
1023+a, gdbSNP:143777158
1024+a, c, tdbSNP:145160426
1025+a, gdbSNP:182391081
1030+c, tdbSNP:147215405
1054+c, tdbSNP:201786788
1078+c, tdbSNP:147584580
1297+dbSNP:
1297+a, gdbSNP:199557273
1303+c, tdbSNP:201808866
1339+c, tdbSNP:142026039
1351+c, tdbSNP:41292388
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
1526+c, tdbSNP:145073993
1531+a, gdbSNP:181264502
1551+a, gdbSNP:185041245
1554+c, tdbSNP:138880727
1584+a, gdbSNP:141453876
1602+c, tdbSNP:41292392
1605+dbSNP:
1605+c, tdbSNP:112191718
1611+a, gdbSNP:150068594
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
1785+a, gdbSNP:149334947
1790+c, tdbSNP:200872921
1798+a, gdbSNP:12596913
1803+c, tdbSNP:114675305
1804+a, gdbSNP:184560545
1906+a, gdbSNP:145043756
1933+a, gdbSNP:147132478
1950+dbSNP:
1950+c, tdbSNP:200285714
1951+a, gdbSNP:148638285
1964+a, gdbSNP:142091964
1984+g, tdbSNP:201713188
1987+c, tdbSNP:201500178
1993+a, gdbSNP:151309999
2021+c, tdbSNP:200668562
2032+c, tdbSNP:199776484
2035+c, gdbSNP:140547832
2083+c, tdbSNP:150069670
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
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
2422+dbSNP:
2422+c, tdbSNP:143682258
2438+a, gdbSNP:201798363
2494+c, tdbSNP:7192781
2518+dbSNP:
2518+c, tdbSNP:147142171
2550+c, tdbSNP:121918115
2551+a, gdbSNP:139456854
2615+a, cdbSNP:200376448
2642+a, cdbSNP:149282970
2663+a, cdbSNP:200446142
2711+dbSNP:
2711+a, tdbSNP:144485421
2720+a, gdbSNP:186012808
2767+c, tdbSNP:77346383
2854+dbSNP:
2854+c, tdbSNP:201014240
2866+c, tdbSNP:148569629
3010+dbSNP:
3010+c, gdbSNP:144420308
3045+c, tdbSNP:201113816
3113+dbSNP:
3113+a, gdbSNP:201253536
3127+c, tdbSNP:146599017
3143+c, gdbSNP:200445830
3178..3180+dbSNP:
3178..3180+, cctdbSNP:200277301
3181+c, tdbSNP:189066218
3190+c, gdbSNP:17358656
3233+dbSNP:
3233+a, gdbSNP:10499
3243+a, gdbSNP:201849283
3258+a, cdbSNP:201185506
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 Sequence Price Select
NM_004320 Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant a, mRNA. Full Length $1249.50
ORF Sequence $865.65
NM_173201 Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA. Full Length $1234.80
ORF Sequence $1052.10
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,N.J., 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,G.B., Gudbjartsson,D.F., Steinthorsdottir,V., Sulem,P., Helgadottir,A., Styrkarsdottir,U., Gretarsdottir,S., Thorlacius,S., Jonsdottir,I., Jonsdottir,T., Olafsdottir,E.J., Olafsdottir,G.H., Jonsson,T., Jonsson,F., Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T., Lauritzen,T., Aben,K.K., Verbeek,A.L., Roeleveld,N., Kampman,E., Yanek,L.R., Becker,L.C., Tryggvadottir,L., Rafnar,T., Becker,D.M., Gulcher,J., Kiemeney,L.A., Pedersen,O., Kong,A., Thorsteinsdottir,U. and Stefansson,K.
Journal Nat. Genet. 41 (1), 18-24 (2009)
Title Role of SERCA1 truncated isoform in the proapoptotic calcium transfer from ER to mitochondria during ER stress .
Author Chami,M., Oules,B., Szabadkai,G., Tacine,R., Rizzuto,R. and Paterlini-Brechot,P.
Journal Mol. Cell 32 (5), 641-651 (2008)
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,A.A., Veerkamp,J.H., Oosterhof,A., Jongen,P.J., Bindels,R.J., Smit,L.M., Busch,H.F. and Wevers,R.A.
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,A.G., van Kuppevelt,T.H., Oosterhof,A., Wevers,R.A. and Veerkamp,J.H.
Journal Biochim. Biophys. Acta 1112 (1), 89-98 (1992)
Title Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12 .
Author Callen,D.F., Baker,E., Lane,S., Nancarrow,J., Thompson,A., Whitmore,S.A., MacLennan,D.H., Berger,R., Cherif,D., Jarvela,I. et al.
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,D.H., Brandl,C.J., Champaneria,S., Holland,P.C., Powers,V.E. and Willard,H.F.
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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