Biology:ATP2B1
 Generic protein structure example |
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.[1][2] 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.[2]
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.[3]
Mutations of the ATP2B1 gene cause a neurodevelopmental delay with mild to moderately impaired intellectual development and mild speech delay.[4]
References
- ↑ "Localization of two genes encoding plasma membrane Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23". Genomics 9 (4): 629–41. April 1991. doi:10.1016/0888-7543(91)90356-J. PMID 1674727.
- ↑ 2.0 2.1 "Entrez Gene: ATP2B1 ATPase, Ca++ transporting, plasma membrane 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=490.
- ↑ "Molecular dissection of box jellyfish venom cytotoxicity highlights an effective venom antidote". Nature Communications 10 (1): 1655. April 2019. doi:10.1038/s41467-019-09681-1. PMID 31040274. Bibcode: 2019NatCo..10.1655L.
- ↑ "De novo variants in ATP2B1 lead to neurodevelopmental delay". American Journal of Human Genetics 109 (5): 944–952. May 2022. doi:10.1016/j.ajhg.2022.03.009. PMID 35358416.
External links
- Human ATP2B1 genome location and ATP2B1 gene details page in the UCSC Genome Browser.
Further reading
- "Structural organization, ion transport, and energy transduction of P-type ATPases". Biochimica et Biophysica Acta (BBA) - Reviews on Biomembranes 1286 (1): 1–51. May 1996. doi:10.1016/0304-4157(95)00017-8. PMID 8634322.
- "Role of alternative splicing in generating isoform diversity among plasma membrane calcium pumps". Physiological Reviews 81 (1): 21–50. January 2001. doi:10.1152/physrev.2001.81.1.21. PMID 11152753.
- "Calcium pumps of plasma membrane and cell interior". Current Molecular Medicine 4 (3): 323–35. May 2004. doi:10.2174/1566524043360735. PMID 15101689.
- "Study of calmodulin binding to the alternatively spliced C-terminal domain of the plasma membrane Ca2+ pump". Biochemistry 31 (47): 11785–92. December 1992. doi:10.1021/bi00162a016. PMID 1332771.
- "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. May 1991. doi:10.1016/S0021-9258(18)31554-0. PMID 1827443.
- "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. September 1989. doi:10.1073/pnas.86.18.6908. PMID 2528729. Bibcode: 1989PNAS...86.6908S.
- "Primary structure of the cAMP-dependent phosphorylation site of the plasma membrane calcium pump". Biochemistry 28 (10): 4253–8. May 1989. doi:10.1021/bi00436a020. PMID 2548572.
- "Complete primary structure of a human plasma membrane Ca2+ pump". The Journal of Biological Chemistry 263 (28): 14152–9. October 1988. doi:10.1016/S0021-9258(18)68198-0. PMID 2844759.
- "Human and rat intestinal plasma membrane calcium pump isoforms". The American Journal of Physiology 265 (5 Pt 1): G917-25. November 1993. doi:10.1152/ajpgi.1993.265.5.G917. PMID 7694502.
- "Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes". The Journal of Biological Chemistry 268 (34): 25993–6003. December 1993. doi:10.1016/S0021-9258(19)74484-6. PMID 8245032.
- "Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes". The Journal of Biological Chemistry 269 (50): 32022. December 1994. doi:10.1016/S0021-9258(18)31797-6. PMID 7989379.
- "Molecular cloning of a plasma membrane calcium pump from human osteoblasts". Journal of Bone and Mineral Research 8 (4): 505–13. April 1993. doi:10.1002/jbmr.5650080415. PMID 8386431.
- "Structure of the gene encoding the human plasma membrane calcium pump isoform 1". The Journal of Biological Chemistry 268 (26): 19717–25. September 1993. doi:10.1016/S0021-9258(19)36574-3. PMID 8396145.
- "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry 236 (1): 107–13. April 1996. doi:10.1006/abio.1996.0138. PMID 8619474.
- "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research 6 (9): 791–806. September 1996. doi:10.1101/gr.6.9.791. PMID 8889548.
- "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. January 1997. doi:10.1007/s001090050088. PMID 9020386.
- "Large-scale concatenation cDNA sequencing". Genome Research 7 (4): 353–8. April 1997. doi:10.1101/gr.7.4.353. PMID 9110174.
- "NMR solution structure of a complex of calmodulin with a binding peptide of the Ca2+ pump". Biochemistry 38 (38): 12320–32. September 1999. doi:10.1021/bi9908235. PMID 10493800.
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