Gene Symbol: Atp6v0a4
Description: ATPase, H+ transporting, lysosomal V0 subunit A4
Alias: Atp6n1b, V-type proton ATPase 116 kDa subunit a isoform 4, ATPase, H+ transporting, lysosomal (vacuolar proton pump) noncatalytic accessory protein 1B, V-ATPase 116 kDa, V-ATPase alpha 4, V-type proton ATPase 116 kDa subunit a, vacuolar proton translocating ATPase 100 kDa a4 subunit, vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform
Species: mouse
Products:     Atp6v0a4

Top Publications

  1. Oka T, Murata Y, Namba M, Yoshimizu T, Toyomura T, Yamamoto A, et al. a4, a unique kidney-specific isoform of mouse vacuolar H+-ATPase subunit a. J Biol Chem. 2001;276:40050-4 pubmed
    ..These results suggest that the V-ATPase, with the a4 isoform, is important for renal acid/base homeostasis. ..
  2. Dou H, Xu J, Wang Z, Smith A, Soleimani M, Karet F, et al. Co-expression of pendrin, vacuolar H+-ATPase alpha4-subunit and carbonic anhydrase II in epithelial cells of the murine endolymphatic sac. J Histochem Cytochem. 2004;52:1377-84 pubmed
  3. Schulz N, Dave M, Stehberger P, Chau T, Wagner C. Differential localization of vacuolar H+-ATPases containing a1, a2, a3, or a4 (ATP6V0A1-4) subunit isoforms along the nephron. Cell Physiol Biochem. 2007;20:109-20 pubmed
    ..Mutations in the human a4 (ATP6V0A4) subunit cause distal renal tubular acidosis (dRTA). There are 4 known isoforms of the 'a' subunit (a1-a4)...
  4. Vidarsson H, Westergren R, Heglind M, Blomqvist S, Breton S, Enerback S. The forkhead transcription factor Foxi1 is a master regulator of vacuolar H-ATPase proton pump subunits in the inner ear, kidney and epididymis. PLoS ONE. 2009;4:e4471 pubmed publisher
  5. Kawamura N, Tabata H, Sun Wada G, Wada Y. Optic nerve compression and retinal degeneration in Tcirg1 mutant mice lacking the vacuolar-type H-ATPase a3 subunit. PLoS ONE. 2010;5:e12086 pubmed publisher
    ..Our findings suggest that a similar etiology of visual impairment is involved in both humans and mice; thus, a3-deficient mice may provide a suitable model for clinical and diagnostic purposes in cases of ARO. ..
  6. Jouret F, Auzanneau C, Debaix H, Wada G, Pretto C, Marbaix E, et al. Ubiquitous and kidney-specific subunits of vacuolar H+-ATPase are differentially expressed during nephrogenesis. J Am Soc Nephrol. 2005;16:3235-46 pubmed
    ..They provide new insights into the complex regulation of V-ATPase subunits, the maturation of IC along the nephron, and the pathophysiology of hereditary dRTA. ..
  7. Norgett E, Golder Z, Lorente Cánovas B, Ingham N, Steel K, Karet Frankl F. Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype. Proc Natl Acad Sci U S A. 2012;109:13775-80 pubmed publisher
    ..Here, we describe an Atp6v0a4 knockout mouse, which lacks the a4 subunit...
  8. Hennings J, Picard N, Huebner A, Stauber T, Maier H, Brown D, et al. A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule. EMBO Mol Med. 2012;4:1057-71 pubmed publisher
    ..Thus, our mouse model gives new insights into the divergent functions of the V-ATPase and the pathophysiology of a4-related symptoms. ..
  9. Kawasaki Nishi S, Yamaguchi A, Forgac M, Nishi T. Tissue specific expression of the splice variants of the mouse vacuolar proton-translocating ATPase a4 subunit. Biochem Biophys Res Commun. 2007;364:1032-6 pubmed
    ..During development, a4-I was expressed beginning with the early embryonic stage, but a4-II mRNA was detected from day 17. These results suggest that each a4 variant has both a tissue and developmental stage specific function. ..

More Information


  1. Honda K, Kim S, Kelly M, Burns J, Constance L, Li X, et al. Molecular architecture underlying fluid absorption by the developing inner ear. elife. 2017;6: pubmed publisher
    ..We propose a molecular mechanism for resorption of NaCl by MRCs during development, and conclude that disruption of this mechanism is the root cause of hearing loss associated with EES. ..
  2. Smith A, Finberg K, Wagner C, Lifton R, Devonald M, Su Y, et al. Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene. J Biol Chem. 2001;276:42382-8 pubmed
    ..We now report the cloning and characterization of Atp6n1b, encoding a novel fourth murine isoform (a4)...
  3. Jouret F, Igarashi T, Gofflot F, Wilson P, Karet F, Thakker R, et al. Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5. Kidney Int. 2004;65:198-208 pubmed
    ..These data give insight into PT and IC maturation, and explain early phenotypic variants of Dent's disease. ..
  4. Lorente Cánovas B, Ingham N, Norgett E, Golder Z, Karet Frankl F, Steel K. Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear. Dis Model Mech. 2013;6:434-42 pubmed publisher
    Mutations in the ATP6V0A4 gene lead to autosomal recessive distal renal tubular acidosis in patients, who often show sensorineural hearing impairment...
  5. Song R, Preston G, Ichihara A, Yosypiv I. Deletion of the prorenin receptor from the ureteric bud causes renal hypodysplasia. PLoS ONE. 2013;8:e63835 pubmed publisher
    ..We propose that mutations in PRR could possibly cause renal hypodysplasia and renal tubular acidosis in humans. ..
  6. Golder Z, Karet Frankl F. Extra-renal locations of the a4 subunit of H(+)ATPase. BMC Cell Biol. 2016;17:27 pubmed publisher
    ..In this study novel locations of the a4 subunit were investigated using an Atp6v0a4 knockout mouse line in which a LacZ reporter cassette replaced part of the gene...