ATP2A1

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]

Description

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

Tissue specificity

Group enriched (skeletal muscle, tongue)

Subcell location

Endoplasmic reticulum

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

16 (28878405 - 28904466)

Ensembl ID

ENSG00000196296  (ver. 103.38)

Orthologs

Mouse Atp2a1: ENSMUSG00000030730

UniProt

O14983

neXtProt

NX_O14983

Human splice variants
Mouse splice variants

Protein structure