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ATPase, H+ transporting, lysosomal V0 subunit A4

A-4, Vph1p, VPH1, ATP6V0A4
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ATPase, V-ATPase, STV1, ACID, HAD
Papers on A-4
Primary distal renal tubular acidosis: novel findings in patients studied by next generation sequencing.
New
Blanco et al., Oviedo, Spain. In Pediatr Res, Dec 2015
BACKGROUND: Primary distal renal tubular acidosis (DRTA) is a rare disease caused by loss of function mutations in at least three genes (ATP6V0A4, ATP6V1B1 and SLC4A1) involved in urinary distal acidification.
Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis.
New
Simões E Silva et al., Belo Horizonte, Brazil. In J Pediatr (rio J), Nov 2015
RESULTS: Two mutations were identified in the ATP6V0A4 and ATP6V1B1 genes.
Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.
Kahrizi et al., Tehrān, Iran. In J Laryngol Otol, 2014
ATP6V1B mutations are associated with early sensorineural hearing loss, whereas ATP6V0A4 mutations are classically associated with either late-onset sensorineural hearing loss or normal hearing.
A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.
Karet Frankl et al., Tehrān, Iran. In Bmc Med Genet, 2014
The recessive form of the disease (which is usually associated with sensorineural deafness) is attributable to mutations in ATP6V1B1 or ATP6V0A4, which encode the tissue-restricted B1 and a4 subunits of the renal apical H(+)-ATPase.
Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.
Abdelhak et al., Tunisia. In Genet Test Mol Biomarkers, 2014
METHODS: Twenty-two Tunisian families were analyzed for mutations in the ATP6V1B1 and ATP6V0A4 genes by direct sequencing.
Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.
Shao et al., Qingdao, China. In Ren Fail, 2014
The objective of this study is to identify ATP6V1B1, ATP6V0A4 and SLC4A1 genes mutations and assess audiologic characteristics in six Chinese children with primary distal renal tubular acidosis from four unrelated families between the ages of 2 and 13 years.
Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.
Aksu et al., İzmir, Turkey. In Ren Fail, 2014
The ATP6V0A4 gene mutation analysis showed homozygote Val2Ala mutation.
FUT11 as a potential biomarker of clear cell renal cell carcinoma progression based on meta-analysis of gene expression data.
Wesoly et al., Poznań, Poland. In Tumour Biol, 2014
We identified 725 differentially regulated genes, with a number of interesting targets, such as TMEM213, SMIM5, or ATPases: ATP6V0A4 and ATP6V1G3, of which limited or no information is available in terms of their function in ccRCC pathology.
V-ATPase-dependent luminal acidification is required for endocytic recycling of a yeast cell wall stress sensor, Wsc1p.
Toshima et al., Tokyo, Japan. In Biochem Biophys Res Commun, 2014
Interestingly, deletion of the VPH1 gene, encoding the V(o) subunit of vacuolar-type H(+)-ATPase (V-ATPase), led to mis-localization of Wsc1p from the plasma membrane to the vacuole.
In silico design and in vivo implementation of yeast gene Boolean gates.
Marchisio, Basel, Switzerland. In J Biol Eng, 2013
Boolean behavior is reproduced via the transcriptional control of a synthetic bipartite promoter that contains sequences of the yeast VPH1 and minimal CYC1 promoters together with operator binding sites for bacterial (i.e.
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
Ariceta et al., Spain. In Bmc Med Genet, 2012
We aim to identify molecular defects present in the ATP6V1B1, ATP6V0A4 and SLC4A1 genes in a Tunisian cohort, according to the following algorithm: first, ATP6V1B1 gene analysis in dRTA patients with sensorineural hearing loss (SNHL) or unknown hearing status.
Genetic causes and mechanisms of distal renal tubular acidosis.
Review
Haque et al., In Nephrol Dial Transplant, 2012
Mutations in ATP6V1B1, encoding the B-subtype unit of the apical H(+) ATPase, and ATP6V0A4, encoding the a-subtype unit, lead to the loss of function of the apical H(+) ATPase and are usually responsible for patients with autosomal recessive dRTA often associated with early or late sensorineural deafness.
Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.
GeneRIF
Karet Frankl et al., Cambridge, United Kingdom. In Proc Natl Acad Sci U S A, 2012
Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype
The renal v-ATPase a4 subunit is expressed in specific subtypes of human gliomas.
GeneRIF
Morel et al., Orsay, France. In Glia, 2012
This study demonistrated that expression identifies subtypes of oligodendrogliomas, pilocytic astrocytomas and gangliogliomas and may contribute to refine characterization of these tumors.
Subunit interactions at the V1-Vo interface in yeast vacuolar ATPase.
GeneRIF
Wilkens et al., Syracuse, United States. In J Biol Chem, 2012
We speculate that the spatial closeness of the a(NT), C(foot), and EG binding sites in the intact V-ATPase results in a high-avidity interaction that is able to resist the torque of rotational catalysis.
Inhibitors of V-ATPase proton transport reveal uncoupling functions of tether linking cytosolic and membrane domains of V0 subunit a (Vph1p).
GeneRIF
Parra et al., Albuquerque, United States. In J Biol Chem, 2012
Inhibitors of V-ATPase proton transport reveal uncoupling functions of tether linking cytosolic and membrane domains of V0 subunit a (Vph1p).
Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis.
GeneRIF
Yang et al., Shanghai, China. In Int J Pediatr Otorhinolaryngol, 2012
There is the first evidence presented with progressive hearing loss associated with ATP6VOA4 mutation in a chinese patient.
[Primary distal renal tubular acidosis].
Review
Najjar et al., Tunisia. In Ann Biol Clin (paris), 2009
Also, mutations in ATP6V0A4 gene encode the accessory subunit a4 of the H+ATPase, leading to recessive forms of dRTA with preserved hearing or delayed signs of deafness.
Renal vacuolar H+-ATPase.
Review
Impact
Geibel et al., Zürich, Switzerland. In Physiol Rev, 2004
The importance in final urinary acidification along the collecting system is highlighted by monogenic defects in two subunits (ATP6V0A4, ATP6V1B1) of the vacuolar H(+)-ATPase in patients with distal renal tubular acidosis.
Evidence for a conserved 95-120 kDa subunit associated with and essential for activity of V-ATPases.
Review
Jones et al., Pittsburgh, United States. In J Exp Biol, 1992
Vph1p has 42% identity to the 116 kDa polypeptide of the rat clathrin-coated vesicles/synaptic vesicle proton pump, 42% identity to the TJ6 mouse immune suppressor factor, 42% identity to the Caenorhabditis elegans proton pump homologue and 54% identity to the predicted polypeptide encoded by the yeast gene STV1 (Similar To VPH1, identified as an open reading frame next to the BUB2 gene.
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