ATP6V0A4

GENERAL INFORMATION

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Gene name

ATP6V0A4

Gene description

ATPase, H+ transporting, lysosomal V0 subunit a4

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (kidney, salivary gland)
GTEx:Tissue enhanced (kidney)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in a subset of cells in kidney.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA018029 , HPA064555
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Salivary gland

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (kidney, salivary gland)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (kidney)

Organ

Expression



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

Cytoband

q34

Chromosome location (bp)

138706295 - 138799560

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000105929 (version 78.38)

Entrez gene

50617

UniProt

Q9HBG4 (UniProt - Evidence at protein level)

neXtProt

NX_Q9HBG4

Antibodypedia

ATP6V0A4 antibodies


PROTEIN BROWSER

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ENST00000310018
 
ENST00000353492
 
ENST00000393054
 
 
 
 


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
Show all »
Show » Show » 840 96.4 No 8