• Source: ATP2A1

Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (SERCA1) also known as Calcium pump 1, is an enzyme that in humans is encoded by the ATP2A1 gene.




Function


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.




Clinical significance


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.
Alternative splicing of ATP2A1 is also implicated in myotonic dystrophy type 1.
ATP2A1 SERCA pumps were very strongly down regulated in amyotrophic lateral sclerosis.




Interactions


ATP2A1 has been shown to interact with:

SLN, and
PLN.




References






External links


Human ATP2A1 genome location and ATP2A1 gene details page in the UCSC Genome Browser.




Further reading

Kata Kunci Pencarian:

• Daftar gen penyandi protein pada manusia/1
• ATP2A1
• Brody myopathy
• SERCA
• ATPase
• Inositol trisphosphate
• List of genetic disorders
• List of human protein-coding genes 1
• Calmodulin
• Calreticulin
• Annexin A5