MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP005065

UniProt Annotations

Entry Information
Gene NameATPase, H+ transporting, lysosomal V0 subunit a4
Protein EntryVPP4_HUMAN
UniProt IDQ9HBG4
SpeciesHuman
Comments
Comment typeDescription
DiseaseRenal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]: An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO:0000269|PubMed:10973252, ECO:0000269|PubMed:12414817}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPart of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney. {ECO:0000250}.
SimilarityBelongs to the V-ATPase 116 kDa subunit family. {ECO:0000305}.
Subcellular LocationApical 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.
SubunitThe 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''.
Tissue SpecificityExpressed in adult and fetal kidney. Found in the inner ear. {ECO:0000269|PubMed:12414817}.
  logo