ATP6V1B1

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ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
Identifiers
Symbols ATP6V1B1 ; ATP6B1; RTA1B; VATB; VMA2; VPP3
External IDs OMIM192132 MGI103285 HomoloGene68198 ChEMBL: 3217 GeneCards: ATP6V1B1 Gene
EC number 3.6.3.14
RNA expression pattern
PBB GE ATP6V1B1 205473 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 525 110935
Ensembl ENSG00000116039 ENSMUSG00000006269
UniProt P15313 Q91YH6
RefSeq (mRNA) NM_001692 NM_134157
RefSeq (protein) NP_001683 NP_598918
Location (UCSC) Chr 2:
71.16 – 71.19 Mb
Chr 6:
83.74 – 83.76 Mb
PubMed search [1] [2]

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

References[edit]

  1. ^ 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. 
  2. ^ 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 297776. PMID 2527371. 
  3. ^ a b "Entrez Gene: ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness)". 

Further reading[edit]