ATP2A1

From Wikipedia, the free encyclopedia

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1

PDB rendering based on 1iwo.

Available structures: 1iwo, 1kju, 1su4, 1t5s, 1t5t, 1vfp, 1wpe, 1wpg, 1xp5, 2agv, 2by4, 2c88, 2c8k, 2c8l, 2c9m, 2dqs, 2ear, 2eas, 2eat, 2eau, 2o9j, 2oa0

Identifiers

Symbol(s)

ATP2A1; ATP2A; SERCA1

External IDs

OMIM: 108730 MGI: 105058 HomoloGene: 7635

Gene ontology
Molecular Function:	• nucleotide binding • magnesium ion binding • calcium-transporting ATPase activity • calcium ion binding • protein binding • ATP binding • hydrolase activity • hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
Cellular Component:	• membrane • integral to membrane • sarcoplasmic reticulum
Biological Process:	• transport • cation transport • calcium ion transport • regulation of striated muscle contraction • metabolic process • proton transport • positive regulation of striated fast muscle contraction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

XM_001127578 (mRNA)
XP_001127578 (protein)

NM_007504 (mRNA)
NP_031530 (protein)

Location

Chr 16: 28.8 - 28.82 Mb

Chr 7: 126.24 - 126.25 Mb

Pubmed search

[1]

[2]

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1, also known as ATP2A1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1.

[edit] Further reading

Baba-Aissa F, Raeymaekers L, Wuytack F, et al. (1998). "Distribution and isoform diversity of the organellar Ca2+ pumps in the brain.". Mol. Chem. Neuropathol. 33 (3): 199–208. PMID 9642673.
Callen DF, Baker E, Lane S, et al. (1992). "Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12.". Am. J. Hum. Genet. 49 (6): 1372–7. PMID 1746562.
MacLennan DH, Brandl CJ, Champaneria S, et al. (1988). "Fast-twitch and slow-twitch/cardiac Ca2+ ATPase genes map to human chromosomes 16 and 12.". Somat. Cell Mol. Genet. 13 (4): 341–6. PMID 2842876.
Brandl CJ, Green NM, Korczak B, MacLennan DH (1986). "Two Ca2+ ATPase genes: homologies and mechanistic implications of deduced amino acid sequences.". Cell 44 (4): 597–607. PMID 2936465.
Benders AA, Wevers RA, Veerkamp JH (1996). "Ion transport in human skeletal muscle cells: disturbances in myotonic dystrophy and Brody's disease.". Acta Physiol. Scand. 156 (3): 355–67. PMID 8729696.
Zhang Y, Fujii J, Phillips MS, et al. (1997). "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.". Genomics 30 (3): 415–24. doi:10.1006/geno.1995.1259. PMID 8825625.
Odermatt A, Taschner PE, Khanna VK, et al. (1996). "Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease.". Nat. Genet. 14 (2): 191–4. doi:10.1038/ng1096-191. PMID 8841193.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
Algenstaedt P, Antonetti DA, Yaffe MB, Kahn CR (1997). "Insulin receptor substrate proteins create a link between the tyrosine phosphorylation cascade and the Ca2+-ATPases in muscle and heart.". J. Biol. Chem. 272 (38): 23696–702. PMID 9295312.
Odermatt A, Taschner PE, Scherer SW, et al. (1998). "Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.". Genomics 45 (3): 541–53. doi:10.1006/geno.1997.4967. PMID 9367679.
MacLennan DH, Rice WJ, Odermatt A (1998). "Structure/function analysis of the Ca2+ binding and translocation domain of SERCA1 and the role in Brody disease of the ATP2A1 gene encoding SERCA1.". Ann. N. Y. Acad. Sci. 834: 175–85. PMID 9405806.
Odermatt A, Becker S, Khanna VK, et al. (1998). "Sarcolipin regulates the activity of SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+-ATPase.". J. Biol. Chem. 273 (20): 12360–9. PMID 9575189.
Asahi M, Kimura Y, Kurzydlowski K, et al. (2000). "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.". J. Biol. Chem. 274 (46): 32855–62. PMID 10551848.
Odermatt A, Barton K, Khanna VK, et al. (2000). "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.". Hum. Genet. 106 (5): 482–91. PMID 10914677.
Daiho T, Yamasaki K, Saino T, et al. (2001). "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.". J. Biol. Chem. 276 (35): 32771–8. doi:10.1074/jbc.M101229200. PMID 11438520.
Asahi M, Green NM, Kurzydlowski K, et al. (2001). "Phospholamban domain IB forms an interaction site with the loop between transmembrane helices M6 and M7 of sarco(endo)plasmic reticulum Ca2+ ATPases.". Proc. Natl. Acad. Sci. U.S.A. 98 (18): 10061–6. doi:10.1073/pnas.181348298. PMID 11526231.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Pieske B, Maier LS, Schmidt-Schweda S (2002). "Sarcoplasmic reticulum Ca2+ load in human heart failure.". Basic Res. Cardiol. 97 Suppl 1: I63–71. PMID 12479237.
Toyoshima C, Asahi M, Sugita Y, et al. (2003). "Modeling of the inhibitory interaction of phospholamban with the Ca2+ ATPase.". Proc. Natl. Acad. Sci. U.S.A. 100 (2): 467–72. doi:10.1073/pnas.0237326100. PMID 12525698.