ATP2B1

Plasma membrane calcium-transporting ATPase 1 also known as Plasma membrane calcium pump isoform 1 is a plasma membrane Ca²⁺
ATPase, an enzyme that in humans is encoded by the ATP2B1 gene.^[5][6] It's a transport protein, a translocase, a calcium pump EC 7.2.2.10.

ATP2B1
Identifiers
Aliases	ATP2B1, ATPase, Ca++ transporting, plasma membrane 1, PMCA1, PMCA1kb, ATPase plasma membrane Ca2+ transporting 1
External IDs	OMIM: 108731; MGI: 104653; HomoloGene: 55597; GeneCards: ATP2B1; OMA:ATP2B1 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q21.33 Start 89,588,049 bp[1] End 89,709,300 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 C3 Start 98,750,268 bp[2] End 98,862,005 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in frontal pole Brodmann area 23 lateral nuclear group of thalamus Occipital Lobe primary visual cortex jejunal mucosa external globus pallidus secondary oocyte cartilage tissue superior frontal gyrus Top expressed in otolith organ utricle dorsal striatum Region I of hippocampus proper dentate gyrus of hippocampal formation granule cell lateral geniculate nucleus superior frontal gyrus nucleus accumbens medial geniculate nucleus primary visual cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding PDZ domain binding metal ion binding calmodulin binding protein binding hydrolase activity ATP binding P-type calcium transporter activity calcium ion transmembrane transporter activity P-type calcium transporter activity involved in regulation of presynaptic cytosolic calcium ion concentration ATPase activity Cellular component integral component of membrane membrane intracellular membrane-bounded organelle plasma membrane apical part of cell integral component of plasma membrane dendrite membrane neuronal cell body membrane basolateral plasma membrane apical plasma membrane dendritic spine membrane membrane raft cytoplasmic side of plasma membrane extracellular exosome nucleus glutamatergic synapse GABA-ergic synapse integral component of presynaptic active zone membrane immunological synapse cell junction synapse Biological process regulation of cardiac conduction ageing cellular calcium ion homeostasis cellular response to vitamin D ion transport ion transmembrane transport brain development calcium ion transmembrane transport cellular response to corticosterone stimulus transport response to cold calcium ion export neural retina development calcium ion transport regulation of cytosolic calcium ion concentration regulation of presynaptic cytosolic calcium ion concentration calcium ion export across plasma membrane negative regulation of cytokine production regulation of vascular associated smooth muscle contraction regulation of blood pressure positive regulation of bone mineralization negative regulation of cytosolic calcium ion concentration positive regulation of calcium ion transport regulation of cellular response to insulin stimulus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 490 67972 Ensembl ENSG00000070961 ENSMUSG00000019943 UniProt P20020 G5E829 RefSeq (mRNA) NM_001001323 NM_001682 NM_026482 NM_001359506 NM_001359507 NM_001359508 NM_001359509 RefSeq (protein) NP_001001323 NP_001673 NP_001353449 NP_001353450 NP_001353451 NP_001353452 NP_001353453 NP_001353454 NP_001353455 NP_001353456 NP_001353457 NP_001353458 NP_001353459 NP_001353460 NP_001353461 NP_080758 NP_001346435 NP_001346436 NP_001346437 NP_001346438 Location (UCSC) Chr 12: 89.59 – 89.71 Mb Chr 10: 98.75 – 98.86 Mb PubMed search [3] [4]
Wikidata
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The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues.^[6]

Clinical significance

ATP2B1 is a critical host factor supporting cytotoxicity caused by Chironex fleckeri (a type of box jellyfish) stings. Blocking ATP2B1 is believed to have therapeutic potential for treating pain and skin necrosis caused by these stings.^[7]

Mutations of the ATP2B1 gene cause a neurodevelopmental delay with mild to moderately impaired intellectual development and mild speech delay.^[8]