en ATP2B1

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)
End	89,709,300 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	98,862,005 bp
RNA expression pattern
	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
	; ; ; ;
	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
	490
	67972
	ENSG00000070961
	ENSMUSG00000019943
	P20020
	G5E829
	NM_001001323; NM_001682
	NM_026482; NM_001359506; NM_001359507; NM_001359508; NM_001359509
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
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000070961 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000019943 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Olson S, Wang MG, Carafoli E, Strehler EE, McBride OW (April 1991). "Localization of two genes encoding plasma membrane Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23". Genomics. 9 (4): 629–41. doi:10.1016/0888-7543(91)90356-J. PMID 1674727.
^ ^a ^b "Entrez Gene: ATP2B1 ATPase, Ca++ transporting, plasma membrane 1".
^ Lau MT, Manion J, Littleboy JB, Oyston L, Khuong TM, Wang QP, Nguyen DT, Hesselson D, Seymour JE, Neely GG (April 2019). "Molecular dissection of box jellyfish venom cytotoxicity highlights an effective venom antidote". Nature Communications. 10 (1): 1655. Bibcode:2019NatCo..10.1655L. doi:10.1038/s41467-019-09681-1. PMC 6491561. PMID 31040274.
^ Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GM, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann AP, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BB, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Abou Jamra R, Oppermann H (May 2022). "De novo variants in ATP2B1 lead to neurodevelopmental delay". American Journal of Human Genetics. 109 (5): 944–952. doi:10.1016/j.ajhg.2022.03.009. PMC 9118097. PMID 35358416.

External links

Human ATP2B1 genome location and ATP2B1 gene details page in the UCSC Genome Browser.

Møller JV, Juul B, le Maire M (May 1996). "Structural organization, ion transport, and energy transduction of P-type ATPases". Biochimica et Biophysica Acta (BBA) - Reviews on Biomembranes. 1286 (1): 1–51. doi:10.1016/0304-4157(95)00017-8. PMID 8634322.
Strehler EE, Zacharias DA (January 2001). "Role of alternative splicing in generating isoform diversity among plasma membrane calcium pumps". Physiological Reviews. 81 (1): 21–50. doi:10.1152/physrev.2001.81.1.21. PMID 11152753. S2CID 9062253.
Strehler EE, Treiman M (May 2004). "Calcium pumps of plasma membrane and cell interior". Current Molecular Medicine. 4 (3): 323–35. doi:10.2174/1566524043360735. PMID 15101689.
Kessler F, Falchetto R, Heim R, Meili R, Vorherr T, Strehler EE, Carafoli E (December 1992). "Study of calmodulin binding to the alternatively spliced C-terminal domain of the plasma membrane Ca2+ pump". Biochemistry. 31 (47): 11785–92. doi:10.1021/bi00162a016. PMID 1332771.
Wang KK, Wright LC, Machan CL, Allen BG, Conigrave AD, Roufogalis BD (May 1991). "Protein kinase C phosphorylates the carboxyl terminus of the plasma membrane Ca(2+)-ATPase from human erythrocytes". The Journal of Biological Chemistry. 266 (14): 9078–85. doi:10.1016/S0021-9258(18)31554-0. PMID 1827443.
Strehler EE, Strehler-Page MA, Vogel G, Carafoli E (September 1989). "mRNAs for plasma membrane calcium pump isoforms differing in their regulatory domain are generated by alternative splicing that involves two internal donor sites in a single exon". Proceedings of the National Academy of Sciences of the United States of America. 86 (18): 6908–12. Bibcode:1989PNAS...86.6908S. doi:10.1073/pnas.86.18.6908. PMC 297959. PMID 2528729.
James PH, Pruschy M, Vorherr TE, Penniston JT, Carafoli E (May 1989). "Primary structure of the cAMP-dependent phosphorylation site of the plasma membrane calcium pump". Biochemistry. 28 (10): 4253–8. doi:10.1021/bi00436a020. PMID 2548572.
Verma AK, Filoteo AG, Stanford DR, Wieben ED, Penniston JT, Strehler EE, Fischer R, Heim R, Vogel G, Mathews S (October 1988). "Complete primary structure of a human plasma membrane Ca2+ pump". The Journal of Biological Chemistry. 263 (28): 14152–9. doi:10.1016/S0021-9258(18)68198-0. PMID 2844759.
Howard A, Legon S, Walters JR (November 1993). "Human and rat intestinal plasma membrane calcium pump isoforms". The American Journal of Physiology. 265 (5 Pt 1): G917-25. doi:10.1152/ajpgi.1993.265.5.G917. PMID 7694502.
Stauffer TP, Hilfiker H, Carafoli E, Strehler EE (December 1993). "Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes". The Journal of Biological Chemistry. 268 (34): 25993–6003. doi:10.1016/S0021-9258(19)74484-6. PMID 8245032.
Stauffer TP, Hilfiker H, Carafoli E, Strehler EE (December 1994). "Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes". The Journal of Biological Chemistry. 269 (50): 32022. doi:10.1016/S0021-9258(18)31797-6. PMID 7989379.
Kumar R, Haugen JD, Penniston JT (April 1993). "Molecular cloning of a plasma membrane calcium pump from human osteoblasts". Journal of Bone and Mineral Research. 8 (4): 505–13. doi:10.1002/jbmr.5650080415. PMID 8386431. S2CID 43674131.
Hilfiker H, Strehler-Page MA, Stauffer TP, Carafoli E, Strehler EE (September 1993). "Structure of the gene encoding the human plasma membrane calcium pump isoform 1". The Journal of Biological Chemistry. 268 (26): 19717–25. doi:10.1016/S0021-9258(19)36574-3. PMID 8396145.
Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (April 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Benkwitz C, Kubisch C, Kraft K, Neyses L (January 1997). "Investigation of the Met-267 Arg exchange in isoform 1 of the human plasma membrane calcium pump in patients with essential hypertension by the amplification-created restriction site technique". Journal of Molecular Medicine. 75 (1): 62–6. doi:10.1007/s001090050088. PMID 9020386. S2CID 7041799.
Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (April 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Elshorst B, Hennig M, Försterling H, Diener A, Maurer M, Schulte P, Schwalbe H, Griesinger C, Krebs J, Schmid H, Vorherr T, Carafoli E (September 1999). "NMR solution structure of a complex of calmodulin with a binding peptide of the Ca2+ pump". Biochemistry. 38 (38): 12320–32. doi:10.1021/bi9908235. PMID 10493800. S2CID 24440343.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000070961 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000019943 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1674727-5] Olson S, Wang MG, Carafoli E, Strehler EE, McBride OW (April 1991). "Localization of two genes encoding plasma membrane Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23". Genomics. 9 (4): 629–41. doi:10.1016/0888-7543(91)90356-J. PMID 1674727.

[entrez-6] "Entrez Gene: ATP2B1 ATPase, Ca++ transporting, plasma membrane 1".

[7] Lau MT, Manion J, Littleboy JB, Oyston L, Khuong TM, Wang QP, Nguyen DT, Hesselson D, Seymour JE, Neely GG (April 2019). "Molecular dissection of box jellyfish venom cytotoxicity highlights an effective venom antidote". Nature Communications. 10 (1): 1655. Bibcode:2019NatCo..10.1655L. doi:10.1038/s41467-019-09681-1. PMC 6491561. PMID 31040274.

[pmid35358416-8] Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GM, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann AP, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BB, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Abou Jamra R, Oppermann H (May 2022). "De novo variants in ATP2B1 lead to neurodevelopmental delay". American Journal of Human Genetics. 109 (5): 944–952. doi:10.1016/j.ajhg.2022.03.009. PMC 9118097. PMID 35358416.

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ATP2B1

Clinical significance

References

External links

Further reading

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