Tbio ATP6V0A4 V-type proton ATPase 116 kDa subunit a isoform 4

Protein Summary

Description

Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney. 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]

Uniprot Accession IDs

• Q9HBG4
• A4D1R4
• A8KA80
• Q32M47
• V-ATPase 116 kDa isoform a4

Gene Name

• ATP6V0A4

Ensembl ID

• ENST00000310018
• ENSP00000308122
• ENSG00000105929
• ENST00000353492
• ENSP00000253856
• ENST00000393054
• ENSP00000376774
• ENST00000645515
• ENSP00000496421

Symbol

• ATP6N1B
• ATP6N2
• A4
• STV1
• VPH1
• VPP2
• RTA1C
• RTADR
• ATP6N2
• RDRTA2
• ATP6N1B

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.96
biological process	0.94
trait	0.75
gene perturbation	0.7
kinase perturbation	0.66

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 71.65   (req: < 5)

Gene RIFs: 20   (req: <= 3)

Antibodies: 113   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 71.65   (req: >= 5)

Gene RIFs: 20   (req: > 3)

Antibodies: 113   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Protein-Protein Interactions (86)

Explore Interacting Targets

1 – 10 of 86

• See Interactions on String-DB

ATP6V1B1

Tchem

Family:  Enzyme

Novelty:  0.01122589

Score:  0.997

Data Source:  STRINGDB

ATP6V0D1

Tbio

Family:  Enzyme

Novelty:  0.05146108

Score:  0.993

Data Source:  STRINGDB

ATP6V0C

Tbio

Family:  Enzyme

Novelty:  0.01142874

Score:  0.992

Data Source:  STRINGDB

ATP6V1F

Tbio

Family:  Enzyme

Novelty:  0.07109314

Score:  0.992

Data Source:  STRINGDB

ATP6V0D2

Tbio

Family:  Enzyme

Novelty:  0.0354396

Score:  0.991

Data Source:  STRINGDB

ATP6V1H

Tbio

Family:  Enzyme

Novelty:  0.04269105

Score:  0.991

Data Source:  STRINGDB

ATP6V0B

Tbio

Family:  Enzyme

Novelty:  0.06595421

Score:  0.99

Data Source:  STRINGDB

ATP6V1A

Tbio

Family:  Enzyme

Novelty:  0.00921474

Score:  0.99

Data Source:  STRINGDB

ATP6V1B2

Tchem

Family:  Enzyme

Novelty:  0.01767911

Score:  0.989

Data Source:  STRINGDB

ATP6V1D

Tbio

Family:  Enzyme

Novelty:  0.02298626

Score:  0.988

Data Source:  STRINGDB

Pathways (22)

Reactome (11)

KEGG (11)

Immune System (R-HSA-168256)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Immune System	2246 targets	R-HSA-168256
Reactome	Innate Immune System	1188 targets	R-HSA-168249
Reactome	Insulin receptor recycling	26 targets	R-HSA-77387
Reactome	Ion channel transport	179 targets	R-HSA-983712
Reactome	Iron uptake and transport	59 targets	R-HSA-917937

Name	Explore in Pharos	Explore in Source
Immune System	2246 targets	R-HSA-168256
Innate Immune System	1188 targets	R-HSA-168249
Insulin receptor recycling	26 targets	R-HSA-77387
Ion channel transport	179 targets	R-HSA-983712
Iron uptake and transport	59 targets	R-HSA-917937

Gene Ontology Terms (24)

Functions (2)

Components (12)

Processes (10)

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1 – 2 of 2

GO Term	Evidence	Assigned by
ATPase binding	Inferred from Physical Interaction (IPI)	UniProtKB
proton-transporting ATPase activity, rotational mechanism	Inferred from Biological aspect of Ancestor (IBA)	GO_Central

GWAS Traits (3)

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1 – 3 of 3

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
high density lipoprotein cholesterol measurement	EFO_0004612	1	1	2		39.6
sleep duration	EFO_0005271	1	1	2		39.6
age-related hearing impairment	EFO_0005782	1	1	0	5.6	21.5

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
high density lipoprotein cholesterol measurement	EFO_0004612	2		39.6
sleep duration	EFO_0005271	2		39.6
age-related hearing impairment	EFO_0005782	0	5.6	21.5

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UniProt Keyword Find Similar Targets

No Header	No Header
Cell membrane
Complete proteome
Disease mutation
Hydrogen ion transport
Ion transport
Membrane
Polymorphism
Reference proteome
Transmembrane
Transmembrane helix

GWAS Trait Find Similar Targets

No Header	No Header
age-related hearing impairment
high density lipoprotein cholesterol measurement
sleep duration

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
homeostasis/metabolism phenotype
mortality/aging
renal/urinary system phenotype
skeleton phenotype
taste/olfaction phenotype

Orthologs (10)

1 – 5 of 10

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	ATPase H+ transporting V0 subunit a4	VGNC:8672	463765
Macaque	ATPase H+ transporting V0 subunit a4		715492
Mouse	ATPase, H+ transporting, lysosomal V0 subunit A4	MGI:2153480	140494
Rat	ATPase H+ transporting V0 subunit a4	RGD:1305055	296981
Dog	ATPase H+ transporting V0 subunit a4	VGNC:38270	482779

Species	Name	OMA	EggNOG	Inparanoid
Chimp	ATPase H+ transporting V0 subunit a4
Macaque	ATPase H+ transporting V0 subunit a4
Mouse	ATPase, H+ transporting, lysosomal V0 subunit A4
Rat	ATPase H+ transporting V0 subunit a4
Dog	ATPase H+ transporting V0 subunit a4

Publication Statistics

PubMed Score 71.65

PubMed score by year

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PubTator Score 29.29

PubTator score by year

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