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, Ca++ Transporting, Cardiac Muscle, Fast Twitch 1) is a Protein Coding gene. Diseases associated with ATP2A1 include brody myopathy and pseudomyotonia. Among its related pathways are Signaling by GPCR and CREB Pathway. GO annotations related to this gene include calcium ion binding and calcium-transporting ATPase activity. An important paralog of this gene is ATP2A2.
UniProtKB/Swiss-Prot 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. Contributes to calcium sequestration involved in muscular excitation/contraction
Ca2+-ATPases function to maintain a low cytoplasmic conentration of Ca2+ ions. They are high affinity, low capacitance transporters and compliment the actions of the low affinity, high capacitance Na+/Ca2+ exchanger. Ca2+-ATPases are P-type ATPases and there are two varients; a plasma membrane-bound Ca2+-ATPase (PMCA) and a sacroplasmic reticulum Ca2+-ATPase (SERCA). PMCA exists as a dimer within the plasma membrane of a wide variety of cell types and, using the energy released from ATP hydrolysis, transports Ca2+ ions out of the cell against the concentration gradient. SERCA is located in the sarcoplasmic reticulum (SR) of muscle cells and transports Ca2+ ions from the cytoplasm into the SR lumen during muscle relaxation. PMCA transports one Ca2+ ion per ATP molecule hydrolyzed, whilst SERCA can transport two. PMCAs are regulated by calmodulin and the phospholipid composition of the surrounding plasma membrane. Furthermore, PMCA can be phosphorylated by PKA, PKC, Src and FAK at specific residues to influence activity. So far, only one human pathology has been linked to PMCA defects; deafness. However, SERCA defects have been implicated in a wide array of pathologies including heart failure, sperm motility defects, cataract formation, carcinogenesis, diabetes, and cardiac hypertension and hypertrophy.