Summary: 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].

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1MIM:108730Ensembl:ENSG00000196296HGNC:HGNC:811PA2510516p11.2

GO terms in ATP2A1

Term TypeEvidence TypeGO Term IDGO Des.
MFIBAGO:0005388calcium-transporting ATPase activity
MFIDAGO:0005388calcium-transporting ATPase activity
MFTASGO:0005388calcium-transporting ATPase activity
MFIMPGO:0005509calcium ion binding
MFIPIGO:0005515protein binding
MFIEAGO:0005524ATP binding
MFIBAGO:0008553proton-exporting ATPase activity, phosphorylative mechanism
MFIPIGO:0042803protein homodimerization activity
CCTASGO:0005789endoplasmic reticulum membrane
CCNASGO:0016021integral component of membrane
CCNASGO:0016529sarcoplasmic reticulum
CCTASGO:0031095platelet dense tubular network membrane
CCIBAGO:0033017sarcoplasmic reticulum membrane
CCICGO:0033017sarcoplasmic reticulum membrane
CCISSGO:0033017sarcoplasmic reticulum membrane
CCTASGO:0033017sarcoplasmic reticulum membrane
CCICGO:0034704calcium channel complex
BPIMPGO:0006816calcium ion transport
BPIBAGO:0006874cellular calcium ion homeostasis
BPIMPGO:0008637apoptotic mitochondrial changes
BPIDAGO:0031448positive regulation of fast-twitch skeletal muscle fiber contraction
BPIMPGO:0032470positive regulation of endoplasmic reticulum calcium ion concentration
BPIMPGO:0032471negative regulation of endoplasmic reticulum calcium ion concentration
BPTASGO:0034220ion transmembrane transport
BPIMPGO:0034976response to endoplasmic reticulum stress
BPIMPGO:0051561positive regulation of mitochondrial calcium ion concentration
BPIMPGO:0051659maintenance of mitochondrion location
BPIMPGO:0070059intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
BPIMPGO:0070509calcium ion import
BPIBAGO:0070588calcium ion transmembrane transport
BPIEAGO:0070588calcium ion transmembrane transport
BPIDAGO:0090076relaxation of skeletal muscle
BPIEAGO:0099132ATP hydrolysis coupled cation transmembrane transport
BPTASGO:1903779regulation of cardiac conduction

Gene expression in normal tissue: ATP2A1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ATP2A1

DatabasePathway IDPathway Des.
reactomeR-HSA-157118Signaling by NOTCH
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-1912420Pre-NOTCH Processing in Golgi
reactomeR-HSA-1912422Pre-NOTCH Expression and Processing
reactomeR-HSA-382551Transport of small molecules
reactomeR-HSA-397014Muscle contraction
reactomeR-HSA-418346Platelet homeostasis
reactomeR-HSA-418359Reduction of cytosolic Ca++ levels
reactomeR-HSA-418360Platelet calcium homeostasis
reactomeR-HSA-5576891Cardiac conduction
reactomeR-HSA-5578775Ion homeostasis
reactomeR-HSA-936837Ion transport by P-type ATPases
reactomeR-HSA-983712Ion channel transport
biocartanfatpathwaynfat and hypertrophy of the heart
pharmgkbPA152241951Celecoxib Pathway, Pharmacodynamics
pharmgkbPA2033Antiarrhythmic Pathway, Pharmacodynamics
kegghsa04020Calcium signaling pathway - Homo sapiens (human)
kegghsa04022cGMP-PKG signaling pathway - Homo sapiens (human)
kegghsa04972Pancreatic secretion - Homo sapiens (human)
kegghsa05010Alzheimer,s disease - Homo sapiens (human)
wikipathwaysWP2059Alzheimers Disease

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ATP2A1