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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 .[ 5] [ 6] [ 7]
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. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts.[ 7]
In melanocytic cells ATP6V1B2 gene expression may be regulated by MITF .[ 8]
^ a b c GRCh38: Ensembl release 89: ENSG00000147416 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006273 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Bernasconi P, Rausch T, Struve I, Morgan L, Taiz L (Nov 1990). "An mRNA from human brain encodes an isoform of the B subunit of the vacuolar H(+)-ATPase" . J Biol Chem . 265 (29): 17428–31. doi :10.1016/S0021-9258(18)38179-1 PMID 2145275 . ^ Smith AN, Lovering RC, Futai M, Takeda J, Brown D, Karet FE (Oct 2003). "Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes" . Mol Cell . 12 (4): 801–3. doi :10.1016/S1097-2765(03)00397-6 PMID 14580332 . ^ a b "Entrez Gene: ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2" .^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy" . Pigment Cell Melanoma Res . 21 (6): 665–76. doi :10.1111/j.1755-148X.2008.00505.x PMID 19067971 . S2CID 24698373 .
Finbow ME, Harrison MA (1997). "The vacuolar H+-ATPase: a universal proton pump of eukaryotes" . Biochem. J . 324 (3): 697–712. doi :10.1042/bj3240697 . PMC 1218484 PMID 9210392 . Stevens TH, Forgac M (1998). "Structure, function and regulation of the vacuolar (H+)-ATPase". Annu. Rev. Cell Dev. Biol . 13 : 779–808. doi :10.1146/annurev.cellbio.13.1.779 . PMID 9442887 . Nelson N, Harvey WR (1999). "Vacuolar and plasma membrane proton-adenosinetriphosphatases". Physiol. Rev . 79 (2): 361–85. doi :10.1152/physrev.1999.79.2.361 . PMID 10221984 . S2CID 1477911 . Forgac M (1999). "Structure and properties of the vacuolar (H+)-ATPases" . J. Biol. Chem . 274 (19): 12951–4. doi :10.1074/jbc.274.19.12951 PMID 10224039 . Kane PM (1999). "Introduction: V-ATPases 1992-1998". J. Bioenerg. Biomembr . 31 (1): 3–5. doi :10.1023/A:1001884227654 . PMID 10340843 . Wieczorek H, Brown D, Grinstein S, et al. (1999). "Animal plasma membrane energization by proton-motive V-ATPases". BioEssays . 21 (8): 637–48. doi :10.1002/(SICI)1521-1878(199908)21:8<637::AID-BIES3>3.0.CO;2-W . PMID 10440860 . S2CID 23505139 . Nishi T, Forgac M (2002). "The vacuolar (H+)-ATPases--nature's most versatile proton pumps". Nat. Rev. Mol. Cell Biol . 3 (2): 94–103. doi :10.1038/nrm729 . PMID 11836511 . S2CID 21122465 . Kawasaki-Nishi S, Nishi T, Forgac M (2003). "Proton translocation driven by ATP hydrolysis in V-ATPases". FEBS Lett . 545 (1): 76–85. doi :10.1016/S0014-5793(03)00396-X . PMID 12788495 . S2CID 10507213 . Morel N (2004). "Neurotransmitter release: the dark side of the vacuolar-H+ATPase" . Biol. Cell . 95 (7): 453–7. doi :10.1016/S0248-4900(03)00075-3 PMID 14597263 . S2CID 17519696 . Nelson RD, Guo XL, Masood K, et al. (1992). "Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells" . Proc. Natl. Acad. Sci. U.S.A . 89 (8): 3541–5. Bibcode :1992PNAS...89.3541N . doi :10.1073/pnas.89.8.3541 PMC 48904 PMID 1373501 . Lee BS, Underhill DM, Crane MK, Gluck SL (1995). "Transcriptional regulation of the vacuolar H(+)-ATPase B2 subunit gene in differentiating THP-1 cells" . J. Biol. Chem . 270 (13): 7320–9. doi :10.1074/jbc.270.13.7320 PMID 7706273 . van Hille B, Richener H, Schmid P, et al. (1994). "Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms" . Biochem. J . 303 (1): 191–8. doi :10.1042/bj3030191 . PMC 1137575 PMID 7945239 .
