Human Gene ATP2B1 (ENST00000428670.8_8) from GENCODE V47lift37
Description: Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis (PubMed:35358416). Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells (PubMed:29104511). May play a role in synaptic transmission by modulating calcium and proton dynamics at the synaptic vesicles. (from UniProt P20020) Gencode Transcript: ENST00000428670.8_8 Gencode Gene: ENSG00000070961.17_16 Transcript (Including UTRs) Position: hg19 chr12:89,981,826-90,102,615 Size: 120,790 Total Exon Count: 21 Strand: - Coding Region Position: hg19 chr12:89,984,761-90,049,663 Size: 64,903 Coding Exon Count: 20
ID:AT2B1_HUMAN DESCRIPTION: RecName: Full=Plasma membrane calcium-transporting ATPase 1; Short=PMCA1; EC=3.6.3.8; AltName: Full=Plasma membrane calcium ATPase isoform 1; AltName: Full=Plasma membrane calcium pump isoform 1; FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. CATALYTIC ACTIVITY: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2). SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Isoform B is ubiquitously expressed. Isoform C is found in brain cortex, skeletal muscle and heart muscle. Isoform D has only been found in fetal skeletal muscle. Isoform K has been found in small intestine and liver. DOMAIN: The calmodulin-binding subdomain B is different in the different splice variants and shows pH dependent calmodulin binding properties in isoforms A, C, D and E. SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 81653 - Calcium ATPase, transduction domain A 51713 - tRNA-guanine transglycosylase 56784 - HAD-like 81660 - Metal cation-transporting ATPase, ATP-binding domain N 81665 - Calcium ATPase, transmembrane domain M
ModBase Predicted Comparative 3D Structure on P20020
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0003407 neural retina development GO:0006811 ion transport GO:0006816 calcium ion transport GO:0007420 brain development GO:0007568 aging GO:0009409 response to cold GO:0034220 ion transmembrane transport GO:0051480 regulation of cytosolic calcium ion concentration GO:0070588 calcium ion transmembrane transport GO:0071305 cellular response to vitamin D GO:0071386 cellular response to corticosterone stimulus GO:0099132 ATP hydrolysis coupled cation transmembrane transport GO:1901660 calcium ion export GO:1903779 regulation of cardiac conduction GO:1990034 calcium ion export from cell
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
