ATP6V1B1

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ATP6V1B1
Identifiers
Aliases ATP6V1B1, ATP6B1, RTA1B, VATB, VMA2, VPP3, ATPase H+ transporting V1 subunit B1
External IDs MGI: 103285 HomoloGene: 68198 GeneCards: 525
RNA expression pattern
PBB GE ATP6V1B1 205473 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001692

NM_134157

RefSeq (protein)

NP_001683.2

n/a

Location (UCSC) Chr 2: 70.94 – 70.97 Mb Chr 6: 83.74 – 83.76 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

V-type proton ATPase subunit B, kidney isoform is an enzyme that in humans is encoded by the ATP6V1B1 gene.[3][4][5]

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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 (Feb 1999). "Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness". Nat Genet. 21 (1): 84–90. doi:10.1038/5022. PMID 9916796. 
  4. ^ Sudhof TC, Fried VA, Stone DK, Johnston PA, Xie XS (Sep 1989). "Human endomembrane H+ pump strongly resembles the ATP-synthetase of Archaebacteria". Proc Natl Acad Sci U S A. 86 (16): 6067–71. doi:10.1073/pnas.86.16.6067. PMC 297776free to read. PMID 2527371. 
  5. ^ a b "Entrez Gene: ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness)". 

Further reading[edit]