ATP6V1B1 explained

V-type proton ATPase subunit B, kidney isoform is an enzyme that in humans is encoded by the ATP6V1B1 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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c' ', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness.

Further reading

• Schuler GD, Boguski MS, Stewart EA . A gene map of the human genome . Science . 274 . 5287 . 540–6 . 1996 . 8849440 . 10.1126/science.274.5287.540 . 1996Sci...274..540S . 22619 . etal.
• Finbow ME, Harrison MA . The vacuolar H+-ATPase: a universal proton pump of eukaryotes . Biochem. J. . 324 . Pt 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 . 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 . 17519696 . free .
• van Hille B, Richener H, Schmid P . Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms . Biochem. J. . 303 . Pt 1. 191–8 . 1994 . 7945239 . 10.1042/bj3030191. 1137575 . etal.
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Breton S, Smith PJ, Lui B, Brown D . Acidification of the male reproductive tract by a proton pumping (H+)-ATPase . Nat. Med. . 2 . 4 . 470–2 . 1996 . 8597961 . 10.1038/nm0496-470 . 10616789 .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . etal.

Notes and References

1. Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP . Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness . Nat Genet . 21 . 1 . 84–90 . Feb 1999 . 9916796 . 10.1038/5022 . 34262548 .
2. Sudhof TC, Fried VA, Stone DK, Johnston PA, Xie XS . Human endomembrane H+ pump strongly resembles the ATP-synthetase of Archaebacteria . Proc Natl Acad Sci U S A . 86 . 16 . 6067–71 . Sep 1989 . 2527371 . 297776 . 10.1073/pnas.86.16.6067 . 1989PNAS...86.6067S . free .
3. Web site: Entrez Gene: ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness).