ATP2A1, Official Symbol ATP2A1provided by HGNC Official Full Name ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1provided by HGNC Primary source HGNC:HGNC:811 See related Ensembl:ENSG00000196296 MIM:108730; AllianceGenome:HGNC:811 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATP2A; SERCA1 Summary 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] Expression Biased expression in esophagus (RPKM 15.8), prostate (RPKM 13.1) and 1 other tissue See more Orthologs mouse all