ATP2B1

Last updated
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
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

Contents

RefSeq (protein)

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
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]

Related Research Articles

<span class="mw-page-title-main">V-ATPase</span> Family of transport protein complexes

Vacuolar-type ATPase (V-ATPase) is a highly conserved evolutionarily ancient enzyme with remarkably diverse functions in eukaryotic organisms. V-ATPases acidify a wide array of intracellular organelles and pumps protons across the plasma membranes of numerous cell types. V-ATPases couple the energy of ATP hydrolysis to proton transport across intracellular and plasma membranes of eukaryotic cells. It is generally seen as the polar opposite of ATP synthase because ATP synthase is a proton channel that uses the energy from a proton gradient to produce ATP. V-ATPase however, is a proton pump that uses the energy from ATP hydrolysis to produce a proton gradient.

<span class="mw-page-title-main">Calcium ATPase</span> Class of enzymes

Ca2+ ATPase is a form of P-ATPase that transfers calcium after a muscle has contracted. The two kinds of calcium ATPase are:

Plasma membrane Ca<sup>2+</sup> ATPase Transport protein

The plasma membrane Ca2+ ATPase (PMCA) is a transport protein in the plasma membrane of cells that functions as a calcium pump to remove calcium (Ca2+) from the cell. PMCA function is vital for regulating the amount of Ca2+ within all eukaryotic cells. There is a very large transmembrane electrochemical gradient of Ca2+ driving the entry of the ion into cells, yet it is very important that they maintain low concentrations of Ca2+ for proper cell signalling. Thus, it is necessary for cells to employ ion pumps to remove the Ca2+. The PMCA and the sodium calcium exchanger (NCX) are together the main regulators of intracellular Ca2+ concentrations. Since it transports Ca2+ into the extracellular space, the PMCA is also an important regulator of the calcium concentration in the extracellular space.

<span class="mw-page-title-main">ATP2B4</span> Protein-coding gene in the species Homo sapiens

Plasma membrane calcium-transporting ATPase 4 is an enzyme that in humans is encoded by the ATP2B4 gene.

<span class="mw-page-title-main">ATP2C1</span> Protein-coding gene in the species Homo sapiens

Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ATP2C1 gene.

<span class="mw-page-title-main">ATP6V1B1</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit B, kidney isoform is an enzyme that in humans is encoded by the ATP6V1B1 gene.

<span class="mw-page-title-main">ATP2B2</span> Protein-coding gene in the species Homo sapiens

Plasma membrane calcium-transporting ATPase 2 is an enzyme that in humans is encoded by the ATP2B2 gene.

<span class="mw-page-title-main">ATP6V1E1</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit E 1 is an enzyme that in humans is encoded by the ATP6V1E1 gene.

<span class="mw-page-title-main">ATP1B1</span> Protein-coding gene in the species Homo sapiens

Sodium/potassium-transporting ATPase subunit beta-1 is an enzyme that in humans is encoded by the ATP1B1 gene.

<span class="mw-page-title-main">ATP2A3</span> Protein-coding gene in the species Homo sapiens

Sarcoplasmic/endoplasmic reticulum calcium ATPase 3 is an enzyme that in humans is encoded by the ATP2A3 gene.

<span class="mw-page-title-main">ATP6V1B2</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit B, brain isoform is an enzyme that in humans is encoded by the ATP6V1B2 gene.

<span class="mw-page-title-main">ATP6V1C1</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit C 1 is an enzyme that in humans is encoded by the ATP6V1C1 gene.

<span class="mw-page-title-main">ATPase, H+ transporting, lysosomal V0 subunit a1</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase 116 kDa subunit a isoform 1 is an enzyme that in humans is encoded by the ATP6V0A1 gene.

<span class="mw-page-title-main">ATP6V1A</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase catalytic subunit A is an enzyme that in humans is encoded by the ATP6V1A gene.

<span class="mw-page-title-main">ATP6V0D1</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit d 1 is an enzyme that in humans is encoded by the ATP6V0D1 gene.

<span class="mw-page-title-main">ATP6V1G2</span>

V-type proton ATPase subunit G 2 is an enzyme that in humans is encoded by the ATP6V1G2 gene.

<span class="mw-page-title-main">ATP6V1G3</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit G 3 is an enzyme that in humans is encoded by the ATP6V1G3 gene.

<span class="mw-page-title-main">ATP6V0B</span> Protein-coding gene in Homo sapiens

V-type proton ATPase 21 kDa proteolipid subunit is an enzyme that in humans is encoded by the ATP6V0B gene.

<span class="mw-page-title-main">ATP2B3</span> Protein-coding gene in humans

Plasma membrane calcium-transporting ATPase 3(PMCA3) is an enzyme that in humans is encoded by the ATP2B3 gene.

Calcium pumps are a family of ion transporters found in the cell membrane of all animal cells. They are responsible for the active transport of calcium out of the cell for the maintenance of the steep Ca2+ electrochemical gradient across the cell membrane. Calcium pumps play a crucial role in proper cell signalling by keeping the intracellular calcium concentration roughly 10,000 times lower than the extracellular concentration. Failure to do so is one cause of muscle cramps.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000070961 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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.

Further reading

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