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

    Gene ID: 127124, updated on 10-Dec-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
    mouse all
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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_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_000001.11Genomic 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. A plasma membrane proton ATPase in specialized cells of rat epididymis. Brown D, et al. Am J Physiol, 1992 Oct. PMID 1415677
    2. 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
    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 (30) 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)

    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 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
    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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