Aliases for ATP2A1 Gene
External Ids for ATP2A1 Gene
Previous HGNC Symbols for ATP2A1 Gene
Previous GeneCards Identifiers for ATP2A1 Gene
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]
GeneCards Summary for ATP2A1 Gene
ATP2A1 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1) is a Protein Coding gene. Diseases associated with ATP2A1 include Brody Myopathy and Atrophic Muscular Disease. Among its related pathways are Cardiac conduction and Pre-NOTCH Expression and Processing. Gene Ontology (GO) annotations related to this gene include calcium ion binding and nucleotide binding. An important paralog of this gene is ATP2A2.
UniProtKB/Swiss-Prot Summary for ATP2A1 Gene
Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) 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).
Ca2+-ATPases function to maintain a low cytoplasmic concentration of Ca2+ ions. They are high affinity, low capacitance transporters and complement the actions of the low affinity, high capacitance Na+/Ca2+ exchanger. Ca2+-ATPases are P-type ATPases.