ATP6V1B2

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ATP6V1B2
Identifiers
Aliases ATP6V1B2, ATP6B1B2, ATP6B2, HO57, VATB, VPP3, Vma2, ATPase H+ transporting V1 subunit B2, DOOD, ZLS2
External IDs MGI: 109618 HomoloGene: 1279 GeneCards: ATP6V1B2
Gene location (Human)
Chromosome 8 (human)
Chr. Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for ATP6V1B2
Genomic location for ATP6V1B2
Band 8p21.3 Start 20,197,367 bp[1]
End 20,226,819 bp[1]
RNA expression pattern
PBB GE ATP6V1B2 201089 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001693

NM_007509

RefSeq (protein)

NP_001684

NP_031535

Location (UCSC) Chr 8: 20.2 – 20.23 Mb Chr 8: 69.09 – 69.11 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000147416 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006273 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. 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. PMID 14580332. doi:10.1016/S1097-2765(03)00397-6. 
  7. ^ a b "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. PMID 19067971. doi:10.1111/j.1755-148X.2008.00505.x. 

External links[edit]

Further reading[edit]