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Aliases for ATP6V1G3 Gene

Aliases for ATP6V1G3 Gene

  • ATPase H+ Transporting V1 Subunit G3 2 3 5
  • ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G3 2 3
  • Vacuolar Proton Pump Subunit G 3 3 4
  • V-ATPase 13 KDa Subunit 3 3 4
  • V-ATPase Subunit G 3 3 4
  • ATP6G3 3 4
  • 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
  • V-Type Proton ATPase 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
  • Vma10 3

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. Among its related pathways are Ion channel transport and Immune System. GO annotations related to this gene include ATPase binding and hydrogen-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1G2.

UniProtKB/Swiss-Prot 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1G3 Gene

Genomics for ATP6V1G3 Gene

Regulatory Elements for ATP6V1G3 Gene

Enhancers for ATP6V1G3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F198563 0.2 ENCODE 12.5 -23.8 -23826 2.1 SOX13 PKNOX1 SAP130 YY1 RARA GATA3 RERE NR2F6 CREM THAP11 ATP6V1G3 ENSG00000223881
GH01F198561 0.7 Ensembl 12.5 -20.8 -20756 0.6 GTF3C2 PKNOX1 POLR3A SMARCA4 ATP6V1G3 ENSG00000223881
GH01F198577 0.2 ENCODE 12.5 -36.8 -36841 1.1 JUND BHLHE40 ATP6V1G3 ENSG00000223881
GH01F198575 0.7 Ensembl 12.5 -35.2 -35156 1.0 PKNOX1 MTA2 IKZF1 JUNB ETV6 BMI1 TBX21 SPI1 ATP6V1G3 ENSG00000223881
GH01F198597 1 Ensembl ENCODE 12 -57.8 -57787 3.3 TBP TBL1XR1 WRNIP1 NFRKB SIN3A BMI1 CHAMP1 CBX5 GATA2 CREM ATP6V1G3 ENSG00000223881
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ATP6V1G3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP6V1G3 Gene

Chromosome:
1
Start:
198,523,222 bp from pter
End:
198,540,945 bp from pter
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 :

Protein Domains for ATP6V1G3 Gene

Suggested Antigen Peptide Sequences for ATP6V1G3 Gene

GenScript: Design optimal peptide antigens:

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.

Gene Ontology (GO) - Molecular Function for ATP6V1G3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism IEA --
GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances IEA --
GO:0051117 ATPase binding IPI 17360703
genes like me logo Genes that share ontologies with ATP6V1G3: view

Phenotypes for ATP6V1G3 Gene

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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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
Jensen Localization Image for ATP6V1G3 Gene COMPARTMENTS Subcellular localization image for ATP6V1G3 gene
Compartment Confidence
cytosol 5
plasma membrane 5
vacuole 3
nucleus 2

Gene Ontology (GO) - Cellular Components for ATP6V1G3 Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015992 proton transport IEA --
GO:0033572 transferrin transport 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: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thonzonium bromide Approved Pharma surface active agent and inhibitor of V-ATPase proton transport 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 35
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2

(3) 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
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8

(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

Transcripts for ATP6V1G3 Gene

Unigene Clusters for ATP6V1G3 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
ATP6V1G3

Expression for ATP6V1G3 Gene

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

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, PaxDb, and MOPED for ATP6V1G3 Gene



Protein tissue co-expression partners for ATP6V1G3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP6V1G3 Gene:

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.
genes like me logo Genes that share expression patterns with ATP6V1G3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia ATP6V1G3 34 35
  • 88.14 (n)
mouse
(Mus musculus)
Mammalia Atp6v1g3 34 16 35
  • 84.18 (n)
cow
(Bos Taurus)
Mammalia ATP6V1G3 34 35
  • 83.76 (n)
rat
(Rattus norvegicus)
Mammalia Atp6v1g3 34
  • 82.2 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 71 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1G3 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V1G3 34 35
  • 71.3 (n)
lizard
(Anolis carolinensis)
Reptilia ATP6V1G3 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1g3 34
  • 68.42 (n)
Str.15644 34
fruit fly
(Drosophila melanogaster)
Insecta Vha13 35
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vha-10 35
  • 37 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA10 35 37
  • 34 (a)
OneToMany
Species where no ortholog for ATP6V1G3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for ATP6V1G3 Gene

Paralogs for ATP6V1G3 Gene

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

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

Variants for ATP6V1G3 Gene

Sequence variations from dbSNP and Humsavar for ATP6V1G3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1055160 -- 198,523,324(-) TTCGT(A/G)TTTTT utr-variant-3-prime
rs10712995 -- 198,524,143(+) CACAA(-/T)TTTTT intron-variant
rs10754249 -- 198,538,256(+) AGACA(A/G)TATGT intron-variant
rs10922446 -- 198,525,343(+) AACAG(C/T)ATTAA intron-variant
rs111407450 -- 198,533,626(+) GTTTA(C/T)ATGAA intron-variant

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)

Relevant External Links 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

Relevant External Links for ATP6V1G3

Genetic Association Database (GAD)
ATP6V1G3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V1G3

No disorders were found for ATP6V1G3 Gene.

No data available for MalaCards , 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. (Nat. Genet. 2010) 3 46 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 A.N. … Karet F.E. (Gene 2002) 3 4 64
  5. Structure, function and regulation of the vacuolar (H+)-ATPase. (PMID: 9442887) Stevens T.H. … Forgac M. (Annu. Rev. Cell Dev. Biol. 1997) 2 3 64

Products for ATP6V1G3 Gene

Sources for ATP6V1G3 Gene

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