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... See more...

Aliases for ATP6V1G3 Gene

Aliases for ATP6V1G3 Gene

  • ATPase H+ Transporting V1 Subunit G3 2 3 5
  • ATP6G3 2 3 4
  • ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G3 2 3
  • V-Type Proton ATPase Subunit G 3 3 4
  • Vacuolar Proton Pump Subunit G 3 3 4
  • V-ATPase 13 KDa Subunit 3 3 4
  • V-ATPase Subunit G 3 3 4
  • Vma10 2 3
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Subunit G3 3
  • ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G Isoform 3 2
  • ATPase, H+ Transporting, Lysosomal 13kD, V1 Subunit G Isoform 3 2
  • Vacuolar ATP Synthase Subunit G 3 3
  • Vacuolar Proton Pump G Subunit 3 3
  • Vacuolar Proton Pump, Subunit G3 3
  • V-ATPase G Subunit 3 3
  • V-ATPase G3 Subunit 3
  • ATP6V1G3 5

External Ids for ATP6V1G3 Gene

Previous GeneCards Identifiers for ATP6V1G3 Gene

  • GC01M196219
  • GC01M193950
  • GC01M194958
  • GC01M195780
  • GC01M195224
  • GC01M196758
  • GC01M169660

Summaries for ATP6V1G3 Gene

Entrez Gene Summary for ATP6V1G3 Gene

  • 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]

GeneCards Summary for ATP6V1G3 Gene

ATP6V1G3 (ATPase H+ Transporting V1 Subunit G3) is a Protein Coding gene. Diseases associated with ATP6V1G3 include Renal Tubular Acidosis and Cutis Laxa, Autosomal Recessive, Type Iid. Among its related pathways are Synaptic vesicle cycle and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include ATPase binding and proton-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1G1.

UniProtKB/Swiss-Prot Summary for ATP6V1G3 Gene

  • Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Tocris Summary for ATP6V1G3 Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.

Gene Wiki entry for ATP6V1G3 Gene

Additional gene information for ATP6V1G3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6V1G3 Gene

Genomics for ATP6V1G3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP6V1G3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J198597 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 612.1 -57.6 -57619 3 SP1 IKZF1 BACH1 STAT3 NR2C1 TCF12 IKZF2 KAT8 POLR2A RCOR1 ATP6V1G3 ENSG00000223881 piR-32861-008 PTPRC
GH01J198534 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 600.7 +1.5 1544 11.6 CEBPG GATAD2A SOX13 FOXA1 PKNOX1 RXRB IKZF2 TRIM22 CEBPA CEBPB ATP6V1G3 PTPRC LOC105371677 NEK7
GH01J198636 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 -107.2 -107243 23.6 CREB1 ZNF629 ZNF512 RFX1 POLR2A BACH1 JUND FOXA1 RELA PKNOX1 PTPRC ATP6V1G3 ENSG00000225172 NONHSAG003874.2 ENSG00000261573
GH01J198660 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 -135.4 -135397 32.1 SP1 CREB1 CTCF HNRNPL TEAD4 PRDM10 RFX1 LEF1 POLR2A ZNF7 lnc-NEK7-4 PTPRC ATP6V1G3 ENSG00000225172 PEBP1P3 lnc-ATP6V1G3-5 lnc-ATP6V1G3-6 piR-38319 ENSG00000261573 NONHSAG003874.2
GH01J198633 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -93.0 -92977 1.4 LEF1 IKZF1 JUND DDX20 RELA PKNOX1 IKZF2 BRD9 ZNF24 DPF2 ATP6V1G3 PTPRC ENSG00000225172 ENSG00000223881
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP6V1G3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V1G3

Top Transcription factor binding sites by QIAGEN in the ATP6V1G3 gene promoter:
  • AML1a
  • c-Ets-1
  • FOXC1
  • FOXO4
  • HNF-1A
  • Ik-2
  • Lmo2
  • POU2F1
  • POU2F1a
  • RSRFC4

Genomic Locations for ATP6V1G3 Gene

Genomic Locations for ATP6V1G3 Gene
chr1:198,523,222-198,540,945
(GRCh38/hg38)
Size:
17,724 bases
Orientation:
Minus strand
chr1:198,492,352-198,510,075
(GRCh37/hg19)
Size:
17,724 bases
Orientation:
Minus strand

Genomic View for ATP6V1G3 Gene

Genes around ATP6V1G3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1G3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V1G3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1G3 Gene

Proteins for ATP6V1G3 Gene

  • Protein details for ATP6V1G3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96LB4-VATG3_HUMAN
    Recommended name:
    V-type proton ATPase subunit G 3
    Protein Accession:
    Q96LB4
    Secondary Accessions:
    • Q495K2
    • Q495K4
    • Q5T9L6

    Protein attributes for ATP6V1G3 Gene

    Size:
    118 amino acids
    Molecular mass:
    13917 Da
    Quaternary structure:
    • V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d).

    Alternative splice isoforms for ATP6V1G3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V1G3 Gene

Post-translational modifications for ATP6V1G3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATP6V1G3 Gene

Domains & Families for ATP6V1G3 Gene

Gene Families for ATP6V1G3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ATP6V1G3 Gene

InterPro:
Blocks:
  • Vacuolar (H+)-ATPase G subunit
ProtoNet:

Suggested Antigen Peptide Sequences for ATP6V1G3 Gene

GenScript: Design optimal peptide antigens:
  • Vacuolar proton pump subunit G 3 (VATG3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96LB4

UniProtKB/Swiss-Prot:

VATG3_HUMAN :
  • Belongs to the V-ATPase G subunit family.
Family:
  • Belongs to the V-ATPase G subunit family.
genes like me logo Genes that share domains with ATP6V1G3: view

Function for ATP6V1G3 Gene

Molecular function for ATP6V1G3 Gene

UniProtKB/Swiss-Prot Function:
Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Phenotypes From GWAS Catalog for ATP6V1G3 Gene

Gene Ontology (GO) - Molecular Function for ATP6V1G3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008553 proton-exporting ATPase activity, phosphorylative mechanism IBA 21873635
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA --
GO:0051117 ATPase binding IPI 17360703
genes like me logo Genes that share ontologies with ATP6V1G3: view
genes like me logo Genes that share phenotypes with ATP6V1G3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1G3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V1G3 Gene

Localization for ATP6V1G3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6V1G3 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ATP6V1G3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 17360703
GO:0016471 vacuolar proton-transporting V-type ATPase complex IBA 21873635
genes like me logo Genes that share ontologies with ATP6V1G3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ATP6V1G3 Gene

Pathways & Interactions for ATP6V1G3 Gene

genes like me logo Genes that share pathways with ATP6V1G3: view

Gene Ontology (GO) - Biological Process for ATP6V1G3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0033572 transferrin transport TAS --
GO:0034220 ion transmembrane transport TAS --
GO:0090383 phagosome acidification TAS --
genes like me logo Genes that share ontologies with ATP6V1G3: view

No data available for SIGNOR curated interactions for ATP6V1G3 Gene

Drugs & Compounds for ATP6V1G3 Gene

(6) Drugs for ATP6V1G3 Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Water Approved Pharma 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
Concanamycin A Experimental Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(2) Additional Compounds for ATP6V1G3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2

(2) Tocris Compounds for ATP6V1G3 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7

(1) ApexBio Compounds for ATP6V1G3 Gene

Compound Action Cas Number
Thonzonium Bromide surface active agent and inhibitor of V-ATPase proton transport 553-08-2
genes like me logo Genes that share compounds with ATP6V1G3: view

Drug Products

Transcripts for ATP6V1G3 Gene

mRNA/cDNA for ATP6V1G3 Gene

6 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1G3

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1G3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2: -

Relevant External Links for ATP6V1G3 Gene

GeneLoc Exon Structure for
ATP6V1G3

Expression for ATP6V1G3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP6V1G3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP6V1G3 Gene

This gene is overexpressed in Kidney - Cortex (x51.8).

Protein differential expression in normal tissues from HIPED for ATP6V1G3 Gene

This gene is overexpressed in Kidney (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATP6V1G3 Gene



Protein tissue co-expression partners for ATP6V1G3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6V1G3

SOURCE GeneReport for Unigene cluster for ATP6V1G3 Gene:

Hs.127743

mRNA Expression by UniProt/SwissProt for ATP6V1G3 Gene:

Q96LB4-VATG3_HUMAN
Tissue specificity: Kidney.

Evidence on tissue expression from TISSUES for ATP6V1G3 Gene

  • Kidney(3.3)
genes like me logo Genes that share expression patterns with ATP6V1G3: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V1G3 Gene

Orthologs for ATP6V1G3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP6V1G3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP6V1G3 30 31
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP6V1G3 30 31
  • 88.14 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp6v1g3 30 17 31
  • 84.18 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP6V1G3 30 31
  • 83.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp6v1g3 30
  • 82.2 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 71 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1G3 31
  • 51 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATP6V1G3 30 31
  • 71.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP6V1G3 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp6v1g3 30
  • 68.42 (n)
Str.15644 30
Fruit Fly
(Drosophila melanogaster)
Insecta Vha13 31
  • 37 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea vha-10 31
  • 37 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA10 31 33 33
  • 34 (a)
OneToMany
Species where no ortholog for ATP6V1G3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for ATP6V1G3 Gene

ENSEMBL:
Gene Tree for ATP6V1G3 (if available)
TreeFam:
Gene Tree for ATP6V1G3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V1G3: view image

Paralogs for ATP6V1G3 Gene

Paralogs for ATP6V1G3 Gene

(3) SIMAP similar genes for ATP6V1G3 Gene using alignment to 1 proteins:

  • VATG3_HUMAN
genes like me logo Genes that share paralogs with ATP6V1G3: view

Variants for ATP6V1G3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6V1G3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs16843254 - p.Glu54Gln

Additional dbSNP identifiers (rs#s) for ATP6V1G3 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1G3 Gene

Variant ID Type Subtype PubMed ID
esv3588521 CNV loss 21293372
nsv1004900 CNV loss 25217958
nsv4043 CNV insertion 18451855
nsv474653 CNV novel sequence insertion 20440878
nsv548903 CNV loss 21841781
nsv832259 CNV gain 17160897

Variation tolerance for ATP6V1G3 Gene

Residual Variation Intolerance Score: 70.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.72; 57.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP6V1G3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1G3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1G3 Gene

Disorders for ATP6V1G3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATP6V1G3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
renal tubular acidosis
  • acidosis renal tubular
cutis laxa, autosomal recessive, type iid
  • arcl2d
autosomal recessive cutis laxa type ii classic type
  • arcl2, classic type
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP6V1G3

genes like me logo Genes that share disorders with ATP6V1G3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP6V1G3 Gene

Publications for ATP6V1G3 Gene

  1. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y … Kamatani N (Nature genetics 2010) 3 41
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  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. (PMID: 12384298) Smith AN … Karet FE (Gene 2002) 3 4
  5. Structure, function and regulation of the vacuolar (H+)-ATPase. (PMID: 9442887) Stevens TH … Forgac M (Annual review of cell and developmental biology 1997) 2 3

Products for ATP6V1G3 Gene

Sources for ATP6V1G3 Gene