Human Gene ATP6V0A4 (ENST00000310018.7) Description and Page Index
Description: Homo sapiens ATPase H+ transporting V0 subunit a4 (ATP6V0A4), transcript variant 2, mRNA. (from RefSeq NM_130840) RefSeq Summary (NM_020632): 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]. Gencode Transcript: ENST00000310018.7 Gencode Gene: ENSG00000105929.16 Transcript (Including UTRs) Position: hg38 chr7:138,706,294-138,798,196 Size: 91,903 Total Exon Count: 22 Strand: - Coding Region Position: hg38 chr7:138,706,624-138,771,247 Size: 64,624 Coding Exon Count: 20
ID:VPP4_HUMAN DESCRIPTION: RecName: Full=V-type proton ATPase 116 kDa subunit a isoform 4; Short=V-ATPase 116 kDa isoform a4; AltName: Full=Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4; AltName: Full=Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform; FUNCTION: Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney (By similarity). SUBUNIT: The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''. SUBCELLULAR LOCATION: Apical cell membrane; Multi-pass membrane protein. Note=Present at high density almost exclusively on the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron. TISSUE SPECIFICITY: Expressed in adult and fetal kidney. Found in the inner ear. DISEASE: Defects in ATP6V0A4 are the cause of distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]. RTADR is an autosomal recessive form of distal renal tubular acidosis (dRTA), a group of disorders characterized by functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. Functional failure of alpha-intercalated cells results in metabolic acidosis accompanied by disturbances of potassium balance, urinary calcium solubility, bone physiology and growth. SIMILARITY: Belongs to the V-ATPase 116 kDa subunit family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP6V0A4";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01496 - V-type ATPase 116kDa subunit family
ModBase Predicted Comparative 3D Structure on Q9HBG4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.