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

Gene ID: 127124, updated on 11-Apr-2024

Summary

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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
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Genomic context

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See ATP6V1G3 in Genome Data Viewer
Location:
1q31.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (198523222..198540945, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (197783117..197800839, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (198492352..198510075, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2284 Neighboring gene NIMA related kinase 7 Neighboring gene proline rich 13 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 4677 Neighboring gene VISTA enhancer hs1322 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:198283627-198284283 Neighboring gene NANOG hESC enhancer GRCh37_chr1:198392710-198393375 Neighboring gene uncharacterized LOC105371677 Neighboring gene uncharacterized LOC124904478 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10450 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:198637893-198639092 Neighboring gene protein tyrosine phosphatase receptor type C Neighboring gene phosphatidylethanolamine binding protein 1 pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. ATP6V1G3 Acts as a Key Gene in Recurrent Spontaneous Abortion: An Integrated Bioinformatics Analysis. Chen Y, et al. Med Sci Monit, 2020 Oct 8. PMID 33028803, Free PMC Article
  2. A plasma membrane proton ATPase in specialized cells of rat epididymis. Brown D, et al. Am J Physiol, 1992 Oct. PMID 1415677
  3. Function of a subunit isoforms of the V-ATPase in pH homeostasis and in vitro invasion of MDA-MB231 human breast cancer cells. Hinton A, et al. J Biol Chem, 2009 Jun 12. PMID 19366680, Free PMC Article
  4. Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis. Smith AN, et al. Gene, 2002 Sep 4. PMID 12384298
  5. V1 and V0 domains of the human H+-ATPase are linked by an interaction between the G and a subunits. Norgett EE, et al. J Biol Chem, 2007 May 11. PMID 17360703

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
Submit: New GeneRIF Correction

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
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Homology

Clone Names

  • MGC119810, MGC119813

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 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
NP_001363790.1
NP_001363791.1
NP_001363792.1
NP_573569.1
NP_579872.1

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)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    198523222..198540945 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315907.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    164628..182350 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    197783117..197800839 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96LB4.1 GenPept UniProtKB/Swiss-Prot:Q96LB4

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