ATP6V1E1 explained

V-type proton ATPase subunit E 1 is an enzyme that in humans is encoded by the ATP6V1E1 gene.^{[1] [2] [3]}

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome.

Further reading

• Finbow ME, Harrison MA . The vacuolar H+-ATPase: a universal proton pump of eukaryotes. . 324 . Biochem. J. . (Pt 3) . 3. 697–712 . 1997 . 9210392 . 10.1042/bj3240697. 1218484 .
• Stevens TH, Forgac M . Structure, function and regulation of the vacuolar (H+)-ATPase. . Annu. Rev. Cell Dev. Biol. . 13 . 1. 779–808 . 1998 . 9442887 . 10.1146/annurev.cellbio.13.1.779 .
• Nelson N, Harvey WR . Vacuolar and plasma membrane proton-adenosinetriphosphatases. . Physiol. Rev. . 79 . 2 . 361–85 . 1999 . 10221984 . 10.1152/physrev.1999.79.2.361. 1477911 .
• Forgac M . Structure and properties of the vacuolar (H+)-ATPases. . J. Biol. Chem. . 274 . 19 . 12951–4 . 1999 . 10224039 . 10.1074/jbc.274.19.12951 . free .
• Kane PM . Introduction: V-ATPases 1992-1998. . J. Bioenerg. Biomembr. . 31 . 1 . 3–5 . 1999 . 10340843 . 10.1023/A:1001884227654 .
• Wieczorek H, Brown D, Grinstein S . Animal plasma membrane energization by proton-motive V-ATPases. . BioEssays . 21 . 8 . 637–48 . 1999 . 10440860 . 10.1002/(SICI)1521-1878(199908)21:8<637::AID-BIES3>3.0.CO;2-W . 23505139 . etal.
• Nishi T, Forgac M . The vacuolar (H+)-ATPases--nature's most versatile proton pumps. . Nat. Rev. Mol. Cell Biol. . 3 . 2 . 94–103 . 2002 . 11836511 . 10.1038/nrm729 . 21122465 .
• Kawasaki-Nishi S, Nishi T, Forgac M . Proton translocation driven by ATP hydrolysis in V-ATPases. . FEBS Lett. . 545 . 1 . 76–85 . 2003 . 12788495 . 10.1016/S0014-5793(03)00396-X . 10507213 .
• Morel N . Neurotransmitter release: the dark side of the vacuolar-H+ATPase. . Biol. Cell . 95 . 7 . 453–7 . 2004 . 14597263 . 10.1016/S0248-4900(03)00075-3 . free .
• Hemken P, Guo XL, Wang ZQ . Immunologic evidence that vacuolar H+ ATPases with heterogeneous forms of Mr = 31,000 subunit have different membrane distributions in mammalian kidney. . J. Biol. Chem. . 267 . 14 . 9948–57 . 1992 . 10.1016/S0021-9258(19)50184-3. 1533641 . etal. free .
• Puech A, Saint-Jore B, Funke B . Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization. . Proc. Natl. Acad. Sci. U.S.A. . 94 . 26 . 14608–13 . 1998 . 9405660 . 10.1073/pnas.94.26.14608 . 25069 . etal. free .
• Breton S, Wiederhold T, Marshansky V . The B1 subunit of the H+ATPase is a PDZ domain-binding protein. Colocalization with NHE-RF in renal B-intercalated cells. . J. Biol. Chem. . 275 . 24 . 18219–24 . 2000 . 10748165 . 10.1074/jbc.M909857199 . etal. free .

Notes and References

1. Baud V, Mears AJ, Lamour V, Scamps C, Duncan AM, McDermid HE, Lipinski M . The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22 . Hum Mol Genet . 3 . 2 . 335–9 . Jul 1994 . 8004105 . 10.1093/hmg/3.2.335 .
2. van Hille B, Vanek M, Richener H, Green JR, Bilbe G . Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase . Biochem Biophys Res Commun . 197 . 1 . 15–21 . Jan 1994 . 8250920 . 10.1006/bbrc.1993.2434 .
3. Web site: Entrez Gene: ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1.