ATP2A1 Antibody – Rabbit

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 two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

ATP2A1: This magnesium-dependent enzyme 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. Associated with sarcolipin (SLN) and phospholamban (PLN). Increased contractile activity leads to a decrease in SERCA1 expression, while decreased contractile activity leads to an increase in SERCA1 expression. Skeletal muscle, fast twitch muscle (type II) fibers. Reversibly inhibited by phospholamban (PLN) at low calcium concentrations. Dephosphorylated PLN decreases the apparent affinity of the ATPase for calcium. This inhibition is regulated by the phosphorylation of PLN. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Endoplasmic reticulum; Hydrolase; Transporter, ion channel; EC 3.6.3.8; Transporter; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 16p12.1

Cellular Component: I band; endoplasmic reticulum membrane; sarcoplasmic reticulum membrane; membrane; sarcoplasmic reticulum; perinuclear region of cytoplasm; integral to membrane; ER-Golgi intermediate compartment

Molecular Function: protein binding; protein homodimerization activity; calcium-transporting ATPase activity; calcium ion binding; ATP binding

Biological Process: apoptotic mitochondrial changes; positive regulation of fast-twitch skeletal muscle contraction; maintenance of mitochondrion localization; metabolic process; reduction of endoplasmic reticulum calcium ion concentration; calcium ion transport; elevation of endoplasmic reticulum calcium ion concentration; regulation of striated muscle contraction; blood coagulation; transmembrane transport; negative regulation of striated muscle contraction; elevation of mitochondrial calcium ion concentration

Disease: Brody Myopathy