Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.
| RefSeq Version | NM_004320.4, 299829200 |
| Length | 3570 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA. |
| Product | sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform b |
| 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]. Transcript Variant: This variant (b) represents the longer transcript but encodes the shorter isoform of this protein. |
| RefSeq | NP_004311.1 |
| CDS | 185..3169 | Exon (1) | 1..302 | Exon (2) | 1..302 | Exon (3) | 303..320 | Exon (4) | 321..403 | Exon (5) | 404..508 | Exon (6) | 509..647 | Exon (7) | 648..728 | Exon (8) | 729..814 | Exon (9) | 815..1112 | Exon (10) | 1113..1279 | Exon (11) | 1280..1368 | Exon (12) | 1369..1471 | Exon (13) | 1472..1603 | Exon (14) | 1604..1729 | Exon (15) | 1730..1948 | Exon (16) | 1949..2284 | Exon (17) | 2285..2505 | Exon (18) | 2506..2708 | Exon (19) | 2709..2794 | Exon (20) | 2795..2928 | Exon (21) | 2929..3046 | Exon (22) | 3047..3164 | Exon (23) | 3165..3206 | Exon (24) | 3207..3536 |
| 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 |
| 138 | + | , c | dbSNP:34875388 |
| 163 | + | c, t | dbSNP:75273069 |
| complement(311) | - | g, a | dbSNP:1134629 |
| 776 | + | c, t | dbSNP:121918113 |
| 847 | + | c, g | dbSNP:113803159 |
| 862 | + | c, t | dbSNP:6565259 |
| 1351 | + | c, t | dbSNP:41292388 |
| 1391 | + | c, t | dbSNP:117350233 |
| 1602 | + | c, t | dbSNP:41292392 |
| 1605 | + | c, t | dbSNP:112191718 |
| 1798 | + | a, g | dbSNP:12596913 |
| 1803 | + | c, t | dbSNP:114675305 |
| 2132 | + | a, g | dbSNP:74573581 |
| 2158 | + | c, t | dbSNP:61626938 |
| 2209 | + | a, c | dbSNP:121918114 |
| 2494 | + | c, t | dbSNP:7192781 |
| 2550 | + | c, t | dbSNP:121918115 |
| 2767 | + | c, t | dbSNP:77346383 |
| 3190 | + | c, g | dbSNP:17358656 |
| 3233 | + | a, g | dbSNP:10499 |
| 3530 | + | c, t | dbSNP:114173613 |
| Gene Symbol | ATP2A1 |
| Gene Synonym | ATP2A; SERCA1 |
| Chromosome | 16 |
| Locus Map | 16p12.1 |
| All Transcripts | NM_004320 , NM_173201 |
| 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 | Use of glycerol-containing media to study the intrinsic fluorescence properties of detergent-solubilized native or expressed SERCA1a . |
| Author | Montigny,C., Arnou,B., Marchal,E. and Champeil,P. |
| Journal | Biochemistry 47 (46), 12159-12174 (2008) |
| Title | Training induced decrease in oxygen cost of cycling is accompanied by down-regulation of SERCA expression in human vastus lateralis muscle . |
| Author | Majerczak,J., Karasinski,J. and Zoladz,J.A. |
| Journal | J. Physiol. Pharmacol. 59 (3), 589-602 (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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