ATP2A1-AS1

Homo sapiens

ASSOCIATED WITH Brody myopathy; chromosome 16p11.2 deletion syndrome, 220-kb; genetic disease; INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl; acrylamide; aflatoxin B1

sca-1

Caenorhabditis elegans

Enables P-type calcium transporter activity and chromatin DNA binding activity. Involved in several processes, including chemical homeostasis; determination of adult lifespan; and response to stress. Located in cytoplasmic vesicle and endomembrane system. Expressed in several structures, including egg-laying apparatus; excretory system; intestine; non-striated muscle; and spermatheca. Human ortholog(s) of this gene implicated in Brody myopathy; hypertension (multiple); and keratosis (multiple). Is an ortholog of human ATP2A3 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3).

Atp2a1

Homo sapiens

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]

Atp2a1

Rattus norvegicus

Enables several functions, including ATP binding activity; P-type calcium transporter activity; and calcium-dependent ATPase activity. Involved in calcium ion transmembrane transport; response to peptide hormone; and sarcoplasmic reticulum calcium ion transport. Acts upstream of or within calcium ion transport. Located in sarcoplasmic reticulum. Biomarker of type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in Brody myopathy. Orthologous to human ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; Alzheimer's disease pathway; INTERACTS WITH (+)-schisandrin B; 2,6-di-tert-butyl-4-methylphenol; 3H-1,2-dithiole-3-thione.