ATP6V1G3 ATPase H+ transporting V1 subunit G3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP6V1G3provided by HGNC
Official Full Name: ATPase H+ transporting V1 subunit G3provided by HGNC
Primary source: HGNC:HGNC:18265
See related: Ensembl:ENSG00000151418 MIM:618071; AllianceGenome:HGNC:18265
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Vma10; ATP6G3
Summary: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle 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. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward kidney (RPKM 14.8) See more
Orthologs: mouse all
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Genomic context

Location:: 1q31.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (198523222..198540945, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (197783117..197800839, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (198492352..198510075, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ATP6V1G3 Acts as a Key Gene in Recurrent Spontaneous Abortion: An Integrated Bioinformatics Analysis.
Title: ATP6V1G3 Acts as a Key Gene in Recurrent Spontaneous Abortion: An Integrated Bioinformatics Analysis.
V-ATPases affecting the pH of the cytosol and intracellular compartments, particularly those containing a3, are also involved in invasion in breast cancer
Title: Function of a subunit isoforms of the V-ATPase in pH homeostasis and in vitro invasion of MDA-MB231 human breast cancer cells.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
integrase	gag-pol	Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that ATP6V1G3 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with ATP6V1G3	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482607

NoName (e-PCR)
- UniSTS:481853

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables proton-transporting ATPase activity, rotational mechanism	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in synaptic vesicle lumen acidification	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of vacuolar proton-transporting V-type ATPase, V1 domain	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: V-type proton ATPase subunit G 3

Names: ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G3; ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3; V-ATPase 13 kDa subunit 3; V-ATPase G subunit 3; V-ATPase G3 subunit; V-ATPase subunit G 3; vacuolar ATP synthase subunit G 3; vacuolar proton pump G subunit 3; vacuolar proton pump subunit G 3; vacuolar proton pump, subunit G3

NP_001307147.1

EC 7.1.2.2

NP_001363790.1

EC 7.1.2.2

NP_001363791.1

EC 7.1.2.2

NP_001363792.1

EC 7.1.2.2

NP_573569.1

EC 7.1.2.2

NP_579872.1

EC 7.1.2.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001320218.2 → NP_001307147.1 V-type proton ATPase subunit G 3 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) encodes the longest isoform (c).

Source sequence(s)

BC101129, BF509031, BX114684

Consensus CDS

CCDS81414.1

UniProtKB/Swiss-Prot

Q96LB4

Conserved Domains (1) summary

pfam03179
Location:3 → 113

V-ATPase_G; Vacuolar (H+)-ATPase G subunit
NM_001376861.1 → NP_001363790.1 V-type proton ATPase subunit G 3 isoform a

Status: REVIEWED

Source sequence(s)

AI791754, BC101130, BF509031

Consensus CDS

CCDS1395.1

UniProtKB/Swiss-Prot

Q495K2, Q495K4, Q5T9L6, Q96LB4

Related

ENSP00000356352.2, ENST00000367382.6

Conserved Domains (1) summary

pfam03179
Location:3 → 107

V-ATPase_G; Vacuolar (H+)-ATPase G subunit
NM_001376862.1 → NP_001363791.1 V-type proton ATPase subunit G 3 isoform c

Status: REVIEWED

Source sequence(s)

AI791754, BC101129, BF509031

Consensus CDS

CCDS81414.1

Related

ENSP00000417171.1, ENST00000489986.1

Conserved Domains (1) summary

pfam03179
Location:3 → 113

V-ATPase_G; Vacuolar (H+)-ATPase G subunit
NM_001376863.1 → NP_001363792.1 V-type proton ATPase subunit G 3 isoform b

Status: REVIEWED

Source sequence(s)

AI791754, BC101131, BF509031

Consensus CDS

CCDS1396.1

Conserved Domains (1) summary

cl03922
Location:3 → 27

V-ATPase_G; Vacuolar (H+)-ATPase G subunit
NM_133262.3 → NP_573569.1 V-type proton ATPase subunit G 3 isoform a

See identical proteins and their annotated locations for NP_573569.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 5' coding region, compared to variant 3. It encodes isoform a, which lacks an internal segment and is shorter, compared to isoform c.

Source sequence(s)

BC101130, BF509031, BX114684

Consensus CDS

CCDS1395.1

UniProtKB/Swiss-Prot

Q495K2, Q495K4, Q5T9L6, Q96LB4

Related

ENSP00000281087.2, ENST00000281087.6

Conserved Domains (1) summary

pfam03179
Location:3 → 107

V-ATPase_G; Vacuolar (H+)-ATPase G subunit
NM_133326.2 → NP_579872.1 V-type proton ATPase subunit G 3 isoform b

See identical proteins and their annotated locations for NP_579872.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region, compared to variant 3, resulting in a frameshift and an early stop codon. It encodes isoform b, which is shorter and has a distinct C-terminus, compared to isoform c.

Source sequence(s)

BF509031

Consensus CDS

CCDS1396.1

UniProtKB/Swiss-Prot

Q96LB4

Related

ENSP00000309574.7, ENST00000309309.11

Conserved Domains (1) summary

cl03922
Location:3 → 27

V-ATPase_G; Vacuolar (H+)-ATPase G subunit