ATP2A1

ATP2A1
Identifiers
Aliases	ATP2A1, ATP2A, SERCA1, ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
External IDs	MGI: 105058 HomoloGene: 7635 GeneCards: ATP2A1
Gene ontology Molecular function • nucleotide binding • calcium ion binding • protein homodimerization activity • metal ion binding • protein binding • hydrolase activity • ATP binding • calcium-transporting ATPase activity • ATPase activity Cellular component • integral component of membrane • endoplasmic reticulum membrane • membrane • I band • calcium channel complex • H zone • sarcoplasmic reticulum • platelet dense tubular network membrane • endoplasmic reticulum • sarcoplasmic reticulum membrane • perinuclear region of cytoplasm • endoplasmic reticulum-Golgi intermediate compartment • mitochondrion Biological process • regulation of cardiac conduction • positive regulation of fast-twitch skeletal muscle fiber contraction • negative regulation of striated muscle contraction • calcium ion import • positive regulation of endoplasmic reticulum calcium ion concentration • ion transport • response to endoplasmic reticulum stress • maintenance of mitochondrion location • ion transmembrane transport • intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress • regulation of striated muscle contraction • apoptotic mitochondrial changes • transport • relaxation of skeletal muscle • negative regulation of endoplasmic reticulum calcium ion concentration • positive regulation of mitochondrial calcium ion concentration • calcium ion transport • calcium ion transmembrane transport • ATP hydrolysis coupled cation transmembrane transport Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	487	11937
Ensembl	ENSG00000196296	ENSMUSG00000030730
UniProt	O14983	Q8R429
RefSeq (mRNA)	NM_173201 NM_001286075 NM_004320	NM_007504
RefSeq (protein)	NP_001273004 NP_004311 NP_775293	NP_031530.2 NP_031530
Location (UCSC)	Chr 16: 28.88 – 28.9 Mb	Chr 7: 126.45 – 126.46 Mb
PubMed search

487

11937

ENSG00000196296

ENSMUSG00000030730

O14983

Q8R429

NM_173201
NM_001286075
NM_004320

NM_007504

NP_001273004
NP_004311
NP_775293

NP_031530.2
NP_031530

Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 is an enzyme that in humans is encoded by the ATP2A1 gene.

This gene encodes one of the SERCA Ca²⁺-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.

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