ATP2A1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Protein ATP2A1 PDB 1iwo.png
PDB rendering based on 1iwo.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ATP2A1 ; ATP2A; SERCA1
External IDs OMIM108730 MGI105058 HomoloGene7635 ChEMBL: 3136 GeneCards: ATP2A1 Gene
EC number 3.6.3.8
RNA expression pattern
PBB GE ATP2A1 205444 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 487 11937
Ensembl ENSG00000196296 ENSMUSG00000030730
UniProt O14983 Q8R429
RefSeq (mRNA) NM_001286075 NM_007504
RefSeq (protein) NP_001273004 NP_031530
Location (UCSC) Chr 16:
28.89 – 28.92 Mb
Chr 7:
126.45 – 126.46 Mb
PubMed search [1] [2]

Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 is an enzyme that in humans is encoded by the ATP2A1 gene.[1]

Function[edit]

This gene encodes one of the SERCA Ca2+-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.[1]

Clinical significance[edit]

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]

Interactions[edit]

ATP2A1 has been shown to interact with:

References[edit]

  1. ^ a b c "Entrez Gene: ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1". 
  2. ^ a b Asahi M, Kurzydlowski K, Tada M, MacLennan DH (July 2002). "Sarcolipin inhibits polymerization of phospholamban to induce superinhibition of sarco(endo)plasmic reticulum Ca2+-ATPases (SERCAs)". J. Biol. Chem. 277 (30): 26725–8. doi:10.1074/jbc.C200269200. PMID 12032137. 
  3. ^ Asahi M, Sugita Y, Kurzydlowski K, De Leon S, Tada M, Toyoshima C, MacLennan DH (April 2003). "Sarcolipin regulates sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) by binding to transmembrane helices alone or in association with phospholamban". Proc. Natl. Acad. Sci. U.S.A. 100 (9): 5040–5. doi:10.1073/pnas.0330962100. PMC 154294. PMID 12692302. 
  4. ^ Asahi M, Kimura Y, Kurzydlowski K, Tada M, MacLennan DH (November 1999). "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. doi:10.1074/jbc.274.46.32855. PMID 10551848. 
  5. ^ Asahi M, Green NM, Kurzydlowski K, Tada M, MacLennan DH (August 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. PMC 56915. PMID 11526231. 

Further reading[edit]