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ATP6V1B1  -  ATPase, H+ transporting, lysosomal...

Homo sapiens

 
 
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Disease relevance of ATP6V1B1

  • Previously we have shown that mutations in two kidney-specific genes, ATP6V1B1 and ATP6V0A4, encoding the H(+)-ATPase B1 and a4 subunit isoforms, cause recessive distal renal tubular acidosis (dRTA) [1].
  • The previously reported association between ATP6V1B1 defects and severe hearing loss in childhood was maintained [2].
  • The osteopetrosis is the result of a homozygous deletion in TCIRG1, which encodes an osteoclast specific isoform of subunit a of the H(+)-ATPase, while the dRTA is associated with a homozygous mutation in ATP6V1B1, encoding the kidney specific B1 subunit of H(+)-ATPase [3].
  • We demonstrate here that mutations in ATP6B1, encoding the B-subunit of the apical proton pump mediating distal nephron acid secretion, cause distal renal tubular acidosis, a condition characterized by impaired renal acid secretion resulting in metabolic acidosis [4].
 

High impact information on ATP6V1B1

 

Biological context of ATP6V1B1

 

Anatomical context of ATP6V1B1

  • In cells lacking V(0) genes, Vma2p and Vma5p were still detected on Vid vesicles and vacuoles, suggesting that the distribution of V(1) proteins is independent of V(0) genes [10].
  • V-ATPase B1-subunit promoter drives expression of EGFP in intercalated cells of kidney, clear cells of epididymis and airway cells of lung in transgenic mice [11].
 

Other interactions of ATP6V1B1

 

Analytical, diagnostic and therapeutic context of ATP6V1B1

  • These results demonstrate that Atp6v1b1 encodes the murine ortholog of human ATP6V1B1 and provides a tool for future development of animal models based on manipulation of the Atp6v1b1 genomic locus [8].

References

  1. Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis. Smith, A.N., Borthwick, K.J., Karet, F.E. Gene (2002) [Pubmed]
  2. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. Stover, E.H., Borthwick, K.J., Bavalia, C., Eady, N., Fritz, D.M., Rungroj, N., Giersch, A.B., Morton, C.C., Axon, P.R., Akil, I., Al-Sabban, E.A., Baguley, D.M., Bianca, S., Bakkaloglu, A., Bircan, Z., Chauveau, D., Clermont, M.J., Guala, A., Hulton, S.A., Kroes, H., Li Volti, G., Mir, S., Mocan, H., Nayir, A., Ozen, S., Rodriguez Soriano, J., Sanjad, S.A., Tasic, V., Taylor, C.M., Topaloglu, R., Smith, A.N., Karet, F.E. J. Med. Genet. (2002) [Pubmed]
  3. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. Borthwick, K.J., Kandemir, N., Topaloglu, R., Kornak, U., Bakkaloglu, A., Yordam, N., Ozen, S., Mocan, H., Shah, G.N., Sly, W.S., Karet, F.E. J. Med. Genet. (2003) [Pubmed]
  4. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Karet, F.E., Finberg, K.E., Nelson, R.D., Nayir, A., Mocan, H., Sanjad, S.A., Rodriguez-Soriano, J., Santos, F., Cremers, C.W., Di Pietro, A., Hoffbrand, B.I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S.A., Wu, D.K., Skvorak, A.B., Morton, C.C., Cunningham, M.J., Jha, V., Lifton, R.P. Nat. Genet. (1999) [Pubmed]
  5. Renal vacuolar H+-ATPase. Wagner, C.A., Finberg, K.E., Breton, S., Marshansky, V., Brown, D., Geibel, J.P. Physiol. Rev. (2004) [Pubmed]
  6. Epididymal expression of the forkhead transcription factor Foxi1 is required for male fertility. Blomqvist, S.R., Vidarsson, H., Söder, O., Enerbäck, S. EMBO J. (2006) [Pubmed]
  7. Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. Karet, F.E., Finberg, K.E., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S.A., Sanjad, S.A., Al-Sabban, E.A., Medina, J.F., Lifton, R.P. Am. J. Hum. Genet. (1999) [Pubmed]
  8. Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+ -ATPase B1-subunit. Finberg, K.E., Wagner, C.A., Stehberger, P.A., Geibel, J.P., Lifton, R.P. Gene (2003) [Pubmed]
  9. ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. Hahn, H., Kang, H.G., Ha, I.S., Cheong, H.I., Choi, Y. Am. J. Kidney Dis. (2003) [Pubmed]
  10. Degradation of the Gluconeogenic Enzyme Fructose-1, 6-Bisphosphatase is Dependent on the Vacuolar ATPase. Liu, J., Brown, C.R., Chiang, H.L. Autophagy. (2005) [Pubmed]
  11. V-ATPase B1-subunit promoter drives expression of EGFP in intercalated cells of kidney, clear cells of epididymis and airway cells of lung in transgenic mice. Miller, R.L., Zhang, P., Smith, M., Beaulieu, V., Paunescu, T.G., Brown, D., Breton, S., Nelson, R.D. Am. J. Physiol., Cell Physiol. (2005) [Pubmed]
  12. Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene. Feldman, M., Prikis, M., Athanasiou, Y., Elia, A., Pierides, A., Deltas, C.C. Clin. Genet. (2006) [Pubmed]
 
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