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ATP6V1B2
Identifiers
Aliases	ATP6V1B2, ATP6B1B2, ATP6B2, HO57, VATB, VPP3, Vma2, ATPase H+ transporting V1 subunit B2, DOOD, ZLS2
External IDs	OMIM: 606939; MGI: 109618; HomoloGene: 1279; GeneCards: ATP6V1B2; OMA:ATP6V1B2 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8p21.3 Start 20,197,381 bp End 20,226,819 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 B3.3 Start 69,541,298 bp End 69,566,363 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Pons monocyte lateral nuclear group of thalamus prefrontal cortex Brodmann area 10 orbitofrontal cortex frontal pole pars compacta dorsolateral prefrontal cortex superior vestibular nucleus Top expressed in pontine nuclei perirhinal cortex central gray substance of midbrain entorhinal cortex cingulate gyrus CA3 field medial vestibular nucleus inferior colliculi primary motor cortex medial dorsal nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function proton-transporting ATPase activity, rotational mechanism protein binding proton transmembrane transporter activity hydrolase activity ATP binding Cellular component cytoplasm integral component of membrane proton-transporting V-type ATPase, V1 domain cytosol intracellular membrane-bounded organelle membrane melanosome ruffle myelin sheath plasma membrane microvillus lysosomal membrane extracellular exosome endomembrane system apical plasma membrane Biological process insulin receptor signaling pathway transferrin transport ion transport ion transmembrane transport ATP metabolic process regulation of macroautophagy phagosome acidification transport proton transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 526 11966 Ensembl ENSG00000147416 ENSMUSG00000006273 UniProt P21281 P62814 RefSeq (mRNA) NM_001693 NM_007509 RefSeq (protein) NP_001684 NP_031535 Location (UCSC) Chr 8: 20.2 – 20.23 Mb Chr 8: 69.54 – 69.57 Mb PubMed search
Wikidata
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V-type proton ATPase subunit B, brain isoform is an enzyme that in humans is encoded by the ATP6V1B2 gene.

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.

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

References

1. ^ GRCh38: Ensembl release 89: ENSG00000147416 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000006273 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. ^ "Entrez Gene: ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2".
8. 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.

External links

• Human ATP6V1B2 genome location and ATP6V1B2 gene details page in the UCSC Genome Browser.

Further reading

• 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.

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