Entity Details

Primary name ATP6V0A4
Entity type gene
Source Source Link

Details

PrimaryID50617
RefseqGeneNG_008145
SymbolATP6V0A4
NameATPase H+ transporting V0 subunit a4
Chromosome7
Location7q34
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-08-29
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsVPP4_HUMAN

GO terms

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GOName
GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain
GO:0001503 ossification
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0006885 regulation of pH
GO:0007035 vacuolar acidification
GO:0007588 excretion
GO:0007605 sensory perception of sound
GO:0008286 insulin receptor signaling pathway
GO:0010008 endosome membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0016471 vacuolar proton-transporting V-type ATPase complex
GO:0030670 phagocytic vesicle membrane
GO:0031526 brush border membrane
GO:0033572 transferrin transport
GO:0034220 ion transmembrane transport
GO:0045177 apical part of cell
GO:0046961 proton-transporting ATPase activity, rotational mechanism
GO:0051117 ATPase binding
GO:0070062 extracellular exosome
GO:0090383 phagosome acidification
GO:1902600 proton transmembrane transport

Diseases

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Disease IDSourceNameDescription
602722 OMIMRenal tubular acidosis, distal, autosomal recessive (RTADR)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. The disease is caused by variants affecting the gene represented in this entry.