ATP2A1

Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (SERCA1) also known as Calcium pump 1, is an enzyme that in humans is encoded by the ATP2A1 gene.^[5][6]

ATP2A1
Identifiers
Aliases	ATP2A1, ATP2A, SERCA1, ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
External IDs	OMIM: 108730; MGI: 105058; HomoloGene: 7635; GeneCards: ATP2A1; OMA:ATP2A1 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p11.2 Start 28,878,405 bp[1] End 28,904,466 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 F3|7 69.04 cM Start 126,045,030 bp[2] End 126,062,280 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in muscle of thigh Skeletal muscle tissue of rectus abdominis thoracic diaphragm Skeletal muscle tissue of biceps brachii vastus lateralis muscle triceps brachii muscle gastrocnemius muscle body of tongue glutes deltoid muscle Top expressed in ankle triceps brachii muscle temporal muscle sternocleidomastoid muscle digastric muscle muscle of thigh vastus lateralis muscle extensor digitorum longus muscle tibialis anterior muscle medial head of gastrocnemius muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding calcium ion binding protein homodimerization activity metal ion binding protein binding hydrolase activity ATP binding P-type calcium transporter activity ATPase activity P-type proton-exporting transporter 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 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 cellular calcium ion homeostasis proton transmembrane transport calcium ion import into sarcoplasmic reticulum positive regulation of cardiac muscle cell contraction positive regulation of ATPase-coupled calcium transmembrane transporter activity positive regulation of calcium ion import into sarcoplasmic reticulum Sources:Amigo / QuickGO
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 Location (UCSC) Chr 16: 28.88 – 28.9 Mb Chr 7: 126.05 – 126.06 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[5]

Clinical significance

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.^[5] Alternative splicing of ATP2A1 is also implicated in myotonic dystrophy type 1.

ATP2A1 SERCA pumps were very strongly down regulated in amyotrophic lateral sclerosis.^[7]

Interactions

ATP2A1 has been shown to interact with:

• SLN,^[8][9] and
• PLN.^[8][10][11]