ATP6V1B2

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
Identifiers
SymbolsATP6V1B2 ; ATP6B1B2; ATP6B2; HO57; VATB; VPP3; Vma2
External IDsOMIM: 606939 MGI: 109618 HomoloGene: 1279 IUPHAR: 812 ChEMBL: 5641 GeneCards: ATP6V1B2 Gene
EC number3.6.3.14
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez52611966
EnsemblENSG00000147416ENSMUSG00000006273
UniProtP21281P62814
RefSeq (mRNA)NM_001693NM_007509
RefSeq (protein)NP_001684NP_031535
Location (UCSC)Chr 8:
20.05 – 20.08 Mb
Chr 8:
69.09 – 69.11 Mb
PubMed search

V-type proton ATPase subunit B, brain isoform is an enzyme that in humans is encoded by the ATP6V1B2 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. 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.[3]

In melanocytic cells ATP6V1B2 gene expression may be regulated by MITF.[4]

References

  1. 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. PMID 2145275.
  2. 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.
  3. 3.0 3.1 "Entrez Gene: ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2".
  4. 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.

Further reading