ATP2A1

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 three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]

ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1

Key regulator of striated muscle performance by acting as the major Ca2+ ATPase responsible for the reuptake of cytosolic Ca2+ into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (By similarity).
Contributes to calcium sequestration involved in muscular excitation/contraction (PubMed:10914677).

Apoptotic mitochondrial changes Source: BHF-UCL
Calcium ion import Source: BHF-UCL
Calcium ion import into sarcoplasmic reticulum Source: UniProtKB
Calcium ion transmembrane transport Source: GO_Central
Calcium ion transport Source: UniProtKB
Cellular calcium ion homeostasis Source: GO_Central
Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress Source: BHF-UCL
Ion transmembrane transport Source: Reactome
Maintenance of mitochondrion location Source: BHF-UCL
Negative regulation of endoplasmic reticulum calcium ion concentration Source: BHF-UCL
Negative regulation of striated muscle contraction Source: UniProtKB
Positive regulation of ATPase-coupled calcium transmembrane transporter activity Source: UniProtKB
Positive regulation of calcium ion import into sarcoplasmic reticulum Source: UniProtKB
Positive regulation of cardiac muscle cell contraction Source: UniProtKB
Positive regulation of endoplasmic reticulum calcium ion concentration Source: BHF-UCL
Positive regulation of fast-twitch skeletal muscle fiber contraction Source: UniProtKB
Positive regulation of mitochondrial calcium ion concentration Source: BHF-UCL
Regulation of cardiac conduction Source: Reactome
Regulation of striated muscle contraction Source: UniProtKB
Relaxation of skeletal muscle Source: BHF-UCL
Response to endoplasmic reticulum stress Source: BHF-UCL

Endoplasmic reticulum membrane; Sarcoplasmic reticulum membrane

Brody myopathy (BRM): A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation.