Genomes and Genes
Gene Symbol: Atp6v1b1
Description: ATPase, H+ transporting, lysosomal V1 subunit B1
Alias: AW208839, Atp6b1, D630003L15, D630030L16Rik, D630039P21Rik, Vpp-3, Vpp3, V-type proton ATPase subunit B, kidney isoform, ATPase, H+ transporting, V1 subunit B, ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kDa, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, lysosomal 56/58kDa
- Li X, Sanneman J, Harbidge D, Zhou F, Ito T, Nelson R, et al. SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice. PLoS Genet. 2013;9:e1003641 pubmed publisher..Here, we generated a transgenic mouse line that expresses human SLC26A4 controlled by the promoter of ATP6V1B1. Crossing this transgene into the Slc26a4 (?/?) line restored protein expression of pendrin in the endolymphatic ..
- Huang X, Masselli A, Frisch S, Hunton I, Jiang Y, Wang J. Blockade of tumor necrosis factor-induced Bid cleavage by caspase-resistant Rb. J Biol Chem. 2007;282:29401-13 pubmed..These results suggest that Rb cleavage is required for Bid cleavage in TNF-induced type-2 apoptosis, and this requirement can be supplanted by the inhibition of V-ATPase. ..
- Da Silva N, Pisitkun T, Belleannee C, Miller L, Nelson R, Knepper M, et al. Proteomic analysis of V-ATPase-rich cells harvested from the kidney and epididymis by fluorescence-activated cell sorting. Am J Physiol Cell Physiol. 2010;298:C1326-42 pubmed publisher..These cells express the vacuolar H(+)-ATPase (V-ATPase) B1 subunit (ATP6V1B1) in their plasma membrane...
- 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. ..
- Renkema K, Velic A, Dijkman H, Verkaart S, van der Kemp A, Nowik M, et al. The calcium-sensing receptor promotes urinary acidification to prevent nephrolithiasis. J Am Soc Nephrol. 2009;20:1705-13 pubmed publisher..These beneficial adaptations facilitate the excretion of large amounts of soluble Ca(2+), which is crucial to prevent the formation of kidney stones. ..
- Roy J, Hill E, Ruan Y, Vedovelli L, Paunescu T, Brown D, et al. Circulating aldosterone induces the apical accumulation of the proton pumping V-ATPase and increases proton secretion in clear cells in the caput epididymis. Am J Physiol Cell Physiol. 2013;305:C436-46 pubmed publisher..This study, therefore, identifies aldosterone as an active member of the RAAS for the regulation of luminal acidification in the proximal epididymis. ..
- Gueutin V, Vallet M, Jayat M, Peti Peterdi J, Cornière N, Leviel F, et al. Renal ?-intercalated cells maintain body fluid and electrolyte balance. J Clin Invest. 2013;123:4219-31 pubmed publisherInactivation of the B1 proton pump subunit (ATP6V1B1) in intercalated cells (ICs) leads to type I distal renal tubular acidosis (dRTA), a disease associated with salt- and potassium-losing nephropathy...
- Raft S, Andrade L, Shao D, Akiyama H, Henkemeyer M, Wu D. Ephrin-B2 governs morphogenesis of endolymphatic sac and duct epithelia in the mouse inner ear. Dev Biol. 2014;390:51-67 pubmed publisher..We propose that developmental dysplasias described here are a gene dose-sensitive cause of the vestibular dysfunction observed in EphB-Efnb2 signaling-deficient mice. ..
- Finberg K, Wagner C, Stehberger P, Geibel J, Lifton R. Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+ -ATPase B1-subunit. Gene. 2003;318:25-34 pubmed..Two isoforms of the H(+)-ATPase B-subunit exist in humans; we have shown that mutations in ATP6V1B1, encoding the B1-isoform, cause the clinical condition distal renal tubular acidosis...
- Ruan Y, Wang Y, Da Silva N, Kim B, Diao R, Hill E, et al. CFTR interacts with ZO-1 to regulate tight junction assembly and epithelial differentiation through the ZONAB pathway. J Cell Sci. 2014;127:4396-408 pubmed publisher..This study provides a new paradigm for the etiology of diseases associated with CFTR mutations, including cystic fibrosis. ..
- Naggert J, Fricker L, Varlamov O, Nishina P, Rouille Y, Steiner D, et al. Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity. Nat Genet. 1995;10:135-42 pubmed..Thus, the fat mutation represents the first demonstration of an obesity-diabetes syndrome elicited by a genetic defect in a prohormone processing pathway. ..
- Da Silva N, Shum W, El Annan J, Paunescu T, McKee M, Smith P, et al. Relocalization of the V-ATPase B2 subunit to the apical membrane of epididymal clear cells of mice deficient in the B1 subunit. Am J Physiol Cell Physiol. 2007;293:C199-210 pubmed..Mutations in one of the V-ATPase subunits, ATP6v1B1 (B1), cause distal renal tubular acidosis in humans but surprisingly, B1(-/-) mice do not develop metabolic ..
- Grassmeyer J, Mukherjee M, deRiso J, Hettinger C, Bailey M, Sinha S, et al. Elf5 is a principal cell lineage specific transcription factor in the kidney that contributes to Aqp2 and Avpr2 gene expression. Dev Biol. 2017;424:77-89 pubmed publisher..We have identified Elf5 as an early maker of the principal cell lineage that contributes to the expression of principal cell specific genes. ..
- 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. ..
- 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..This mouse model recapitulates the loss of H(+)-ATPase function seen in human disease and can provide additional insights into dRTA and the physiology of the a4 subunit...
- Paunescu T, Rodriguez S, Benz E, McKee M, Tyszkowski R, Albers M, et al. Loss of the V-ATPase B1 subunit isoform expressed in non-neuronal cells of the mouse olfactory epithelium impairs olfactory function. PLoS ONE. 2012;7:e45395 pubmed publisher..We conclude that V-ATPase-mediated H(+) secretion in the olfactory epithelium is required for optimal olfactory function. ..
- Werth M, Schmidt Ott K, Leete T, Qiu A, Hinze C, Viltard M, et al. Transcription factor TFCP2L1 patterns cells in the mouse kidney collecting ducts. elife. 2017;6: pubmed publisher..As a result, Tfcp2l1 regulates the diversification of cell types which is the central characteristic of 'salt and pepper' epithelia and distinguishes the collecting duct from all other nephron segments. ..
- Tian C, Gagnon L, Longo Guess C, Korstanje R, Sheehan S, Ohlemiller K, et al. Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts. Hum Mol Genet. 2017;26:3722-3735 pubmed publisherMutations of the human ATP6V1B1 gene cause distal renal tubular acidosis (dRTA; OMIM #267300) often associated with sensorineural hearing impairment; however, mice with a knockout mutation of Atp6v1b1 were reported to exhibit a ..
- Kovacikova J, Winter C, Loffing Cueni D, Loffing J, Finberg K, Lifton R, et al. The connecting tubule is the main site of the furosemide-induced urinary acidification by the vacuolar H+-ATPase. Kidney Int. 2006;70:1706-16 pubmed..Thus, functional expression of ENaC channels in the CNT is sufficient for furosemide-stimulated urinary acidification and identifies the CNT as a major segment in electrogenic urinary acidification. ..
- Vedovelli L, Rothermel J, Finberg K, Wagner C, Azroyan A, Hill E, et al. Altered V-ATPase expression in renal intercalated cells isolated from B1 subunit-deficient mice by fluorescence-activated cell sorting. Am J Physiol Renal Physiol. 2013;304:F522-32 pubmed publisher..mutations in the 56-kDa B1 subunit isoform of the vacuolar proton-pumping ATPase (V-ATPase), B1-deficient mice (Atp6v1b1(-/-)) do not develop metabolic acidosis under baseline conditions...
- Grewal P, Bolland D, Todd L, Hewitt J. High-resolution mapping of mouse chromosome 8 identifies an evolutionary chromosomal breakpoint. Mamm Genome. 1998;9:603-7 pubmed..As well as providing clues about chromosomal evolution, this map of the FSHD syntenic mouse region should prove invaluable in the isolation of candidate genes for this disease. ..
- Chambrey R, Goossens D, Bourgeois S, Picard N, Bloch Faure M, Leviel F, et al. Genetic ablation of Rhbg in the mouse does not impair renal ammonium excretion. Am J Physiol Renal Physiol. 2005;289:F1281-90 pubmed..We conclude that Rhbg is not a critical determinant of NH(4)(+) excretion by the kidney and of NH(4)(+) detoxification by the liver in vivo. ..
- 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. ..
- Yamaguchi Y, Yonemura S, Takada S. Grainyhead-related transcription factor is required for duct maturation in the salivary gland and the kidney of the mouse. Development. 2006;133:4737-48 pubmed..Furthermore, the composition of saliva and urine was abnormal in these mice. These results indicate that Cp2l1 expression is required for normal duct development in both the salivary gland and kidney. ..
- 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. ..
- van Hille B, Richener H, Schmid P, Puettner I, Green J, Bilbe G. Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms. Biochem J. 1994;303 ( Pt 1):191-8 pubmed..Furthermore, we show by in situ hybridization that HO57 is the only isoform that is exclusively and highly expressed by osteoclasts. ..
- Xiao Z, Chen L, Zhou Q, Zhang W. Dot1l deficiency leads to increased intercalated cells and upregulation of V-ATPase B1 in mice. Exp Cell Res. 2016;344:167-75 pubmed publisher..immunoprecipitation assay unveiled a significant reduction of Dot1l and H3K79 di-methylation bound at the Atp6v1b1 5' flanking region...