ATP6V0A4

GENE INFORMATION

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Gene name

ATP6V0A4 (HGNC Symbol)

Synonyms

a4, ATP6N1B, ATP6N2, RDRTA2, RTA1C, RTADR, Stv1, Vph1, VPP2

Description

ATPase, H+ transporting, lysosomal V0 subunit a4 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

7 (Chromosome progress)

Cytoband

q34

Chromosome location (bp)

138391040 - 138484305

Ensembl

ENSG00000105929 (version 73.37)

Entrez gene

50617

UniProt

Q9HBG4 (UniProt - Evidence at protein level)

neXtProt

NX_Q9HBG4

Antibodypedia

ATP6V0A4 antibodies
 

PROTEIN VIEW

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ATP6V0A4-001
 
ATP6V0A4-002
 
ATP6V0A4-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ATP6V0A4-001 ENSP00000308122
ENST00000310018
Q9HBG4
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Show » Show » 840 96.4 No 8
ATP6V0A4-002 ENSP00000253856
ENST00000353492
Q9HBG4
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Show » Show » 840 96.4 No 8
ATP6V0A4-201 ENSP00000376774
ENST00000393054
Q9HBG4
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Show » Show » 840 96.4 No 8