Genomes and Genes
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
- 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. ..
- 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....
- 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)...
- 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....
- 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. ..
- 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. ..
- 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...
- 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. ..
- 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. ..
- 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...
- 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)...
- 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. ..
- 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 publisherMutations in the ATP6V0A4 gene lead to autosomal recessive distal renal tubular acidosis in patients, who often show sensorineural hearing impairment...
- 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. ..
- 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...