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ATP2B1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

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.{{cite journal | vauthors = Olson S, Wang MG, Carafoli E, Strehler EE, McBride OW | title = Localization of two genes encoding plasma membrane Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23 | journal = Genomics | volume = 9 | issue = 4 | pages = 629–41 | date = April 1991 | pmid = 1674727 | doi = 10.1016/0888-7543(91)90356-J }}{{cite web | title = Entrez Gene: ATP2B1 ATPase, Ca++ transporting, plasma membrane 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=490}} It's a transport protein, a translocase, a calcium pump {{EC number|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.

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.{{cite journal | vauthors = Lau MT, Manion J, Littleboy JB, Oyston L, Khuong TM, Wang QP, Nguyen DT, Hesselson D, Seymour JE, Neely GG | title = Molecular dissection of box jellyfish venom cytotoxicity highlights an effective venom antidote | journal = Nature Communications | volume = 10 | issue = 1 | pages = 1655 | date = April 2019 | pmid = 31040274 | doi = 10.1038/s41467-019-09681-1 | pmc=6491561| bibcode = 2019NatCo..10.1655L }}

Mutations of the ATP2B1 gene cause a neurodevelopmental delay with mild to moderately impaired intellectual development and mild speech delay.{{cite journal | vauthors = 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 | title = De novo variants in ATP2B1 lead to neurodevelopmental delay | journal = American Journal of Human Genetics | volume = 109 | issue = 5 | pages = 944–952 | date = May 2022 | pmid = 35358416 | doi = 10.1016/j.ajhg.2022.03.009| pmc = 9118097 }}

References

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External links

  • {{UCSC gene info|ATP2B1}}

Further reading

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  • {{cite journal | vauthors = Møller JV, Juul B, le Maire M | title = Structural organization, ion transport, and energy transduction of P-type ATPases | journal = Biochimica et Biophysica Acta (BBA) - Reviews on Biomembranes | volume = 1286 | issue = 1 | pages = 1–51 | date = May 1996 | pmid = 8634322 | doi = 10.1016/0304-4157(95)00017-8 }}
  • {{cite journal | vauthors = Strehler EE, Zacharias DA | title = Role of alternative splicing in generating isoform diversity among plasma membrane calcium pumps | journal = Physiological Reviews | volume = 81 | issue = 1 | pages = 21–50 | date = January 2001 | pmid = 11152753 | doi = 10.1152/physrev.2001.81.1.21 | s2cid = 9062253 }}
  • {{cite journal | vauthors = Strehler EE, Treiman M | title = Calcium pumps of plasma membrane and cell interior | journal = Current Molecular Medicine | volume = 4 | issue = 3 | pages = 323–35 | date = May 2004 | pmid = 15101689 | doi = 10.2174/1566524043360735 }}
  • {{cite journal | vauthors = Kessler F, Falchetto R, Heim R, Meili R, Vorherr T, Strehler EE, Carafoli E | title = Study of calmodulin binding to the alternatively spliced C-terminal domain of the plasma membrane Ca2+ pump | journal = Biochemistry | volume = 31 | issue = 47 | pages = 11785–92 | date = December 1992 | pmid = 1332771 | doi = 10.1021/bi00162a016 }}
  • {{cite journal | vauthors = Wang KK, Wright LC, Machan CL, Allen BG, Conigrave AD, Roufogalis BD | title = Protein kinase C phosphorylates the carboxyl terminus of the plasma membrane Ca(2+)-ATPase from human erythrocytes | journal = The Journal of Biological Chemistry | volume = 266 | issue = 14 | pages = 9078–85 | date = May 1991 | doi = 10.1016/S0021-9258(18)31554-0 | pmid = 1827443 | doi-access = free }}
  • {{cite journal | vauthors = Strehler EE, Strehler-Page MA, Vogel G, Carafoli E | title = 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 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 86 | issue = 18 | pages = 6908–12 | date = September 1989 | pmid = 2528729 | pmc = 297959 | doi = 10.1073/pnas.86.18.6908 | bibcode = 1989PNAS...86.6908S | doi-access = free }}
  • {{cite journal | vauthors = James PH, Pruschy M, Vorherr TE, Penniston JT, Carafoli E | title = Primary structure of the cAMP-dependent phosphorylation site of the plasma membrane calcium pump | journal = Biochemistry | volume = 28 | issue = 10 | pages = 4253–8 | date = May 1989 | pmid = 2548572 | doi = 10.1021/bi00436a020 }}
  • {{cite journal | vauthors = Verma AK, Filoteo AG, Stanford DR, Wieben ED, Penniston JT, Strehler EE, Fischer R, Heim R, Vogel G, Mathews S | title = Complete primary structure of a human plasma membrane Ca2+ pump | journal = The Journal of Biological Chemistry | volume = 263 | issue = 28 | pages = 14152–9 | date = October 1988 | doi = 10.1016/S0021-9258(18)68198-0 | pmid = 2844759 | doi-access = free }}
  • {{cite journal | vauthors = Howard A, Legon S, Walters JR | title = Human and rat intestinal plasma membrane calcium pump isoforms | journal = The American Journal of Physiology | volume = 265 | issue = 5 Pt 1 | pages = G917-25 | date = November 1993 | pmid = 7694502 | doi = 10.1152/ajpgi.1993.265.5.G917 }}
  • {{cite journal | vauthors = Stauffer TP, Hilfiker H, Carafoli E, Strehler EE | title = Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes | journal = The Journal of Biological Chemistry | volume = 268 | issue = 34 | pages = 25993–6003 | date = December 1993 | doi = 10.1016/S0021-9258(19)74484-6 | pmid = 8245032 | doi-access = free }}
  • {{cite journal | vauthors = Stauffer TP, Hilfiker H, Carafoli E, Strehler EE | title = Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes | journal = The Journal of Biological Chemistry | volume = 269 | issue = 50 | pages = 32022 | date = December 1994 | doi = 10.1016/S0021-9258(18)31797-6 | pmid = 7989379 | doi-access = free }}
  • {{cite journal | vauthors = Kumar R, Haugen JD, Penniston JT | title = Molecular cloning of a plasma membrane calcium pump from human osteoblasts | journal = Journal of Bone and Mineral Research | volume = 8 | issue = 4 | pages = 505–13 | date = April 1993 | pmid = 8386431 | doi = 10.1002/jbmr.5650080415 | s2cid = 43674131 }}
  • {{cite journal | vauthors = Hilfiker H, Strehler-Page MA, Stauffer TP, Carafoli E, Strehler EE | title = Structure of the gene encoding the human plasma membrane calcium pump isoform 1 | journal = The Journal of Biological Chemistry | volume = 268 | issue = 26 | pages = 19717–25 | date = September 1993 | doi = 10.1016/S0021-9258(19)36574-3 | pmid = 8396145 | doi-access = free }}
  • {{cite journal | vauthors = Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA | title = A "double adaptor" method for improved shotgun library construction | journal = Analytical Biochemistry | volume = 236 | issue = 1 | pages = 107–13 | date = April 1996 | pmid = 8619474 | doi = 10.1006/abio.1996.0138 }}
  • {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = September 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 | doi-access = free }}
  • {{cite journal | vauthors = Benkwitz C, Kubisch C, Kraft K, Neyses L | title = 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 = Journal of Molecular Medicine | volume = 75 | issue = 1 | pages = 62–6 | date = January 1997 | pmid = 9020386 | doi = 10.1007/s001090050088 | s2cid = 7041799 }}
  • {{cite journal | vauthors = Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA | title = Large-scale concatenation cDNA sequencing | journal = Genome Research | volume = 7 | issue = 4 | pages = 353–8 | date = April 1997 | pmid = 9110174 | pmc = 139146 | doi = 10.1101/gr.7.4.353 }}
  • {{cite journal | vauthors = Elshorst B, Hennig M, Försterling H, Diener A, Maurer M, Schulte P, Schwalbe H, Griesinger C, Krebs J, Schmid H, Vorherr T, Carafoli E | title = NMR solution structure of a complex of calmodulin with a binding peptide of the Ca2+ pump | journal = Biochemistry | volume = 38 | issue = 38 | pages = 12320–32 | date = September 1999 | pmid = 10493800 | doi = 10.1021/bi9908235 | s2cid = 24440343 }}

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{{Ion pumps}}

Category:Transport proteins