- ATP2A1
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1, also known as ATP2A1, is a human
gene .cite web | title = Entrez Gene: ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=487| accessdate = ]PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=487| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Baba-Aissa F, Raeymaekers L, Wuytack F, "et al." |title=Distribution and isoform diversity of the organellar Ca2+ pumps in the brain. |journal=Mol. Chem. Neuropathol. |volume=33 |issue= 3 |pages= 199–208 |year= 1998 |pmid= 9642673 |doi=
*cite journal | author=Callen DF, Baker E, Lane S, "et al." |title=Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12. |journal=Am. J. Hum. Genet. |volume=49 |issue= 6 |pages= 1372–7 |year= 1992 |pmid= 1746562 |doi=
*cite journal | author=MacLennan DH, Brandl CJ, Champaneria S, "et al." |title=Fast-twitch and slow-twitch/cardiac Ca2+ ATPase genes map to human chromosomes 16 and 12. |journal=Somat. Cell Mol. Genet. |volume=13 |issue= 4 |pages= 341–6 |year= 1988 |pmid= 2842876 |doi=
*cite journal | author=Brandl CJ, Green NM, Korczak B, MacLennan DH |title=Two Ca2+ ATPase genes: homologies and mechanistic implications of deduced amino acid sequences. |journal=Cell |volume=44 |issue= 4 |pages= 597–607 |year= 1986 |pmid= 2936465 |doi=
*cite journal | author=Benders AA, Wevers RA, Veerkamp JH |title=Ion transport in human skeletal muscle cells: disturbances in myotonic dystrophy and Brody's disease. |journal=Acta Physiol. Scand. |volume=156 |issue= 3 |pages= 355–67 |year= 1996 |pmid= 8729696 |doi=
*cite journal | author=Zhang Y, Fujii J, Phillips MS, "et al." |title=Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease. |journal=Genomics |volume=30 |issue= 3 |pages= 415–24 |year= 1997 |pmid= 8825625 |doi= 10.1006/geno.1995.1259
*cite journal | author=Odermatt A, Taschner PE, Khanna VK, "et al." |title=Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. |journal=Nat. Genet. |volume=14 |issue= 2 |pages= 191–4 |year= 1996 |pmid= 8841193 |doi= 10.1038/ng1096-191
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Algenstaedt P, Antonetti DA, Yaffe MB, Kahn CR |title=Insulin receptor substrate proteins create a link between the tyrosine phosphorylation cascade and the Ca2+-ATPases in muscle and heart. |journal=J. Biol. Chem. |volume=272 |issue= 38 |pages= 23696–702 |year= 1997 |pmid= 9295312 |doi=
*cite journal | author=Odermatt A, Taschner PE, Scherer SW, "et al." |title=Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. |journal=Genomics |volume=45 |issue= 3 |pages= 541–53 |year= 1998 |pmid= 9367679 |doi= 10.1006/geno.1997.4967
*cite journal | author=MacLennan DH, Rice WJ, Odermatt A |title=Structure/function analysis of the Ca2+ binding and translocation domain of SERCA1 and the role in Brody disease of the ATP2A1 gene encoding SERCA1. |journal=Ann. N. Y. Acad. Sci. |volume=834 |issue= |pages= 175–85 |year= 1998 |pmid= 9405806 |doi=
*cite journal | author=Odermatt A, Becker S, Khanna VK, "et al." |title=Sarcolipin regulates the activity of SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+-ATPase. |journal=J. Biol. Chem. |volume=273 |issue= 20 |pages= 12360–9 |year= 1998 |pmid= 9575189 |doi=
*cite journal | author=Asahi M, Kimura Y, Kurzydlowski K, "et al." |title=Transmembrane helix M6 in sarco(endo)plasmic reticulum Ca(2+)-ATPase forms a functional interaction site with phospholamban. Evidence for physical interactions at other sites. |journal=J. Biol. Chem. |volume=274 |issue= 46 |pages= 32855–62 |year= 2000 |pmid= 10551848 |doi=
*cite journal | author=Odermatt A, Barton K, Khanna VK, "et al." |title=The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease. |journal=Hum. Genet. |volume=106 |issue= 5 |pages= 482–91 |year= 2000 |pmid= 10914677 |doi=
*cite journal | author=Daiho T, Yamasaki K, Saino T, "et al." |title=Mutations of either or both Cys876 and Cys888 residues of sarcoplasmic reticulum Ca2+-ATPase result in a complete loss of Ca2+ transport activity without a loss of Ca2+-dependent ATPase activity. Role of the CYS876-CYS888 disulfide bond. |journal=J. Biol. Chem. |volume=276 |issue= 35 |pages= 32771–8 |year= 2001 |pmid= 11438520 |doi= 10.1074/jbc.M101229200
*cite journal | author=Asahi M, Green NM, Kurzydlowski K, "et al." |title=Phospholamban domain IB forms an interaction site with the loop between transmembrane helices M6 and M7 of sarco(endo)plasmic reticulum Ca2+ ATPases. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 18 |pages= 10061–6 |year= 2001 |pmid= 11526231 |doi= 10.1073/pnas.181348298
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Pieske B, Maier LS, Schmidt-Schweda S |title=Sarcoplasmic reticulum Ca2+ load in human heart failure. |journal=Basic Res. Cardiol. |volume=97 Suppl 1 |issue= |pages= I63–71 |year= 2002 |pmid= 12479237 |doi=
*cite journal | author=Toyoshima C, Asahi M, Sugita Y, "et al." |title=Modeling of the inhibitory interaction of phospholamban with the Ca2+ ATPase. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 2 |pages= 467–72 |year= 2003 |pmid= 12525698 |doi= 10.1073/pnas.0237326100PBB_Controls
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