ATP2B1
Identifiers
AliasesATP2B1, ATPase, Ca++ transporting, plasma membrane 1, PMCA1, PMCA1kb, ATPase plasma membrane Ca2+ transporting 1
External IDsOMIM: 108731 MGI: 104653 HomoloGene: 55597 GeneCards: ATP2B1
Orthologs
SpeciesHumanMouse
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_080758
NP_001346435
NP_001346436
NP_001346437
NP_001346438

Location (UCSC)Chr 12: 89.59 – 89.71 MbChr 10: 98.75 – 98.86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000070961 - Ensembl, May 2017
  2. ^ a b c 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.
  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.
  6. ^ a b "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.
  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.

External links

Further reading

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