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Gene Review

ATP6V0A1  -  ATPase, H+ transporting, lysosomal V0...

Homo sapiens

Synonyms: ATP6N1, ATP6N1A, Clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit, Stv1, V-ATPase 116 kDa isoform a1, ...
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High impact information on ATP6V0A1

  • We previously localized a gene for dRTA with preserved hearing to 7q33-34 (ref. 4). We report here the identification of this gene, ATP6N1B, which encodes an 840 amino acid novel kidney-specific isoform of ATP6N1A, the 116-kD non-catalytic accessory subunit of the proton pump [1].
  • There are many En and Mu1 hybridizing sequences present in the maize genome, however, by a process of cross-screening of the positives from the two libraries and by molecular analysis of the En-positive clones it was possible to identify clones in both libraries carrying all or part of the a1 gene [2].
  • The strategy was to make genomic libraries from maize stocks with a1 mutations induced either by En(Spm) or by Robertson's Mutator-system [2].
  • The cDNA fragments from the known flavonoid genes, except chalcone isomerase (chi1), were induced in the CRC-expressing line after hormone induction, whereas only the chalcone synthase (c2) and flavanone/dihydroflavonol reductase (a1) genes were induced in the P-expressing line, as was expected [3].
  • Although transposon insertions are known to suppress recombination and alter the ratio of crossovers to apparent gene conversions, the Mutator 1 transposon insertion in the a1-mum2 allele does not alter the sites at which recombination events resolve [4].

Biological context of ATP6V0A1

  • Furthermore, these fragmentation experiments established the physical orientation of the a1 and sh2 genes relative to the maize centromere [5].
  • We cloned the rice and sorghum genes homologous to the sh2 locus of maize on bacterial artificial chromosomes (BACs), and observed that a homologue of the maize a1 gene was also present on each of these BACs [6].
  • By utilizing a chromosome fragmentation technique, a yeast artificial chromosome encompassing the a1-sh2 interval was separately fragmented at the a1 and sh2 loci [5].
  • We have isolated and sequenced genomic clones of the human Fc gamma RIII-A and Fc gamma RIII-B genes, located their transcription initiation sites, identified a different organization of their 5' regions, and demonstrated four distinct classes of Fc gamma RIII-A transcripts (a1-a4) compared with a single class of Fc gamma RIII-Bb1 transcripts [7].
  • Transformation experiments using components of the a1 locus and analysis of resulting dual mating phenotypes revealed that this locus harbors a pheromone receptor gene (Uhpra1) and a pheromone gene (Uhmfa1) [8].

Anatomical context of ATP6V0A1


Associations of ATP6V0A1 with chemical compounds

  • In the present report, we have cloned the Torpedo marmorata a1 isoform [9].
  • We show that the insertions of Mu1 and Spm similarly influence the expression of a1 controlled by C1 or P [12].
  • By contrast the BBM fraction was substantially depleted of immunoreactive a1 subunits of the Na,K-ATPase and GLUT2 glucose transporters which were abundantly present in the BLM fraction [13].
  • BACKGROUND: Concentrations of Alt a1, a major allergen from Alternaria alternata extracts, exhibit significant batch-to-batch variability [14].
  • Quantum chemical and RRKM calculations were carried out on protonated glycylglycine in order to determine the atomic details of the main fragmentation pathways leading to formation of a1 and y1 ions [15].

Other interactions of ATP6V0A1


Analytical, diagnostic and therapeutic context of ATP6V0A1

  • Molecular cloning of the a1 locus of Zea mays using the transposable elements En and Mu1 [2].
  • Sequence analysis of recombination break points has defined a 377-bp recombination hot spot within the anthocyanin 1 (a1) gene [4].
  • RNA was extracted from rapidly growing mycelia and analyzed by northern blot analysis for the content of a specific segment containing sequence for the Alt a1 allergen [14].


  1. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Smith, A.N., Skaug, J., Choate, K.A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S.A., Sanjad, S.A., Al-Sabban, E.A., Lifton, R.P., Scherer, S.W., Karet, F.E. Nat. Genet. (2000) [Pubmed]
  2. Molecular cloning of the a1 locus of Zea mays using the transposable elements En and Mu1. O'Reilly, C., Shepherd, N.S., Pereira, A., Schwarz-Sommer, Z., Bertram, I., Robertson, D.S., Peterson, P.A., Saedler, H. EMBO J. (1985) [Pubmed]
  3. Expression profiling of the maize flavonoid pathway genes controlled by estradiol-inducible transcription factors CRC and P. Bruce, W., Folkerts, O., Garnaat, C., Crasta, O., Roth, B., Bowen, B. Plant Cell (2000) [Pubmed]
  4. Meiotic recombination break points resolve at high rates at the 5' end of a maize coding sequence. Xu, X., Hsia, A.P., Zhang, L., Nikolau, B.J., Schnable, P.S. Plant Cell (1995) [Pubmed]
  5. The relationship between genetic and physical distances in the cloned a1-sh2 interval of the Zea mays L. genome. Civardi, L., Xia, Y., Edwards, K.J., Schnable, P.S., Nikolau, B.J. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  6. Microcolinearity in sh2-homologous regions of the maize, rice, and sorghum genomes. Chen, M., SanMiguel, P., de Oliveira, A.C., Woo, S.S., Zhang, H., Wing, R.A., Bennetzen, J.L. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  7. The human low affinity immunoglobulin G Fc receptor III-A and III-B genes. Molecular characterization of the promoter regions. Gessner, J.E., Grussenmeyer, T., Kolanus, W., Schmidt, R.E. J. Biol. Chem. (1995) [Pubmed]
  8. The pheromone cell signaling components of the Ustilago a mating-type loci determine intercompatibility between species. Bakkeren, G., Kronstad, J.W. Genetics (1996) [Pubmed]
  9. Specific sorting of the a1 isoform of the V-H+ATPase a subunit to nerve terminals where it associates with both synaptic vesicles and the presynaptic plasma membrane. Morel, N., Dedieu, J.C., Philippe, J.M. J. Cell. Sci. (2003) [Pubmed]
  10. The putative 116 kDa osteoclast specific vacuolar proton pump subunit has ubiquitous tissue distribution. Scott, B.B., Chapman, C.G. Eur. J. Pharmacol. (1998) [Pubmed]
  11. Analysis of mutant frequency curves and survival curves applied to the AL hybrid cell system. Parker, R., Waldren, C., Hei, T.K., Wong, D.F., Puck, T.T., Puck, T.L. J. Theor. Biol. (1988) [Pubmed]
  12. Transposon insertions in the promoter of the Zea mays a1 gene differentially affect transcription by the Myb factors P and C1. Pooma, W., Gersos, C., Grotewold, E. Genetics (2002) [Pubmed]
  13. The GLUT5 hexose transporter is also localized to the basolateral membrane of the human jejunum. Blakemore, S.J., Aledo, J.C., James, J., Campbell, F.C., Lucocq, J.M., Hundal, H.S. Biochem. J. (1995) [Pubmed]
  14. Northern blot identification of mRNA containing sequence for protein allergen, Alt a1, in eight strains of Alternaria alternata. Rosenthal, D., Hu, F., Pacheco, F., Landuyt, J., Barnes, C., Portnoy, J. Ann. Allergy Asthma Immunol. (1998) [Pubmed]
  15. Theoretical study of the main fragmentation pathways for protonated glycylglycine. Paizs, B., Suhai, S. Rapid Commun. Mass Spectrom. (2001) [Pubmed]
  16. Comparative mapping of distal murine chromosome 11 and human 17q21.3 in a region containing a modifying locus for murine plasma von Willebrand factor level. Mohlke, K.L., Purkayastha, A.A., Westrick, R.J., Ginsburg, D. Genomics (1998) [Pubmed]
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