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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP6V1G3 Gene

protein-coding   GIFtS: 58
GCID: GC01M198492

ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G3

(Previous names: ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform...)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G31 2     ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Subunit G32
Vacuolar Proton Pump Subunit G 32 3     V-ATPase G Subunit 32
ATP6G32 3     V-ATPase G3 Subunit2
V-ATPase 13 KDa Subunit 32 3     V-Type Proton ATPase Subunit G 32
V-ATPase Subunit G 32 3     Vacuolar ATP Synthase Subunit G 32
ATPase, H+ Transporting, Lysosomal 13kD, V1 Subunit G Isoform 31     Vacuolar Proton Pump G Subunit 32
ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G Isoform 31     Vacuolar Proton Pump, Subunit G32
Vma102     

External Ids:    HGNC: 182651   Entrez Gene: 1271242   Ensembl: ENSG000001514187   UniProtKB: Q96LB43   

Export aliases for ATP6V1G3 gene to outside databases

Previous GC identifers: GC01M196219 GC01M193950 GC01M194958 GC01M195780 GC01M195224 GC01M196758 GC01M169660


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, lysosomal 13kDa, V1 subunit G3) is a protein-coding gene. Diseases associated with ATP6V1G3 include osteopetrosis, and renal tubular acidosis, and among its related super-pathways are Insulin receptor recycling and Insulin receptor signalling cascade. GO annotations related to this gene include ATPase binding and hydrogen-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1G2-DDX39B.

UniProtKB/Swiss-Prot: VATG3_HUMAN, Q96LB4
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

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, endosomes, the Golgi apparatus, chromaffin granules and coated
vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains.
The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation.
There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles
to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These
transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation
and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause
recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of
sperm motility and maturation.

Gene Wiki entry for ATP6V1G3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP6V1G3 gene promoter:
         AML1a   Lmo2   HNF-1A   c-Ets-1   POU2F1   FOXC1   Ik-2   POU2F1a   FOXO4   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V1G3 promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V1G3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q31.3   Ensembl cytogenetic band:  1q31.3   HGNC cytogenetic band: 1q32.2

ATP6V1G3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V1G3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M198492:  view genomic region     (about GC identifiers)

Start:
198,492,352 bp from pter      End:
198,510,075 bp from pter
Size:
17,724 bases      Orientation:
minus strand

1 alternative location:
Chr1-,NW_003315907 164,628-182,350     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VATG3_HUMAN, Q96LB4 (See protein sequence)
Recommended Name: V-type proton ATPase subunit G 3  
Size: 118 amino acids; 13917 Da
Subunit: 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) (By similarity)
Secondary accessions: Q495K2 Q495K4 Q5T9L6
Alternative splicing: 4 isoforms:  Q96LB4-1   Q96LB4-2   Q96LB4-3   Q96LB4-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATP6V1G3: NX_Q96LB4

Explore proteomics data for ATP6V1G3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96LB4

  • ATP6V1G3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP6V1G3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_573569.1  NP_579872.1  

    ENSEMBL proteins: 
     ENSP00000356352   ENSP00000309574   ENSP00000417171   ENSP00000356351   ENSP00000281087  
    Reactome Protein details: Q96LB4
    Human Recombinant Protein Products for ATP6V1G3: 
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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA17360703
    GO:0016471vacuolar proton-transporting V-type ATPase complex IEA--

    ATP6V1G3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    VATP: ATPases / V-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: G3 
    V-type ATPase

    1 InterPro protein domain:
     IPR005124 V-ATPase_G

    Graphical View of Domain Structure for InterPro Entry Q96LB4

    ProtoNet protein and cluster: Q96LB4

    1 Blocks protein domain: IPB005124 Vacuolar (H+)-ATPase G subunit

    UniProtKB/Swiss-Prot: VATG3_HUMAN, Q96LB4
    Similarity: Belongs to the V-ATPase G subunit family


    ATP6V1G3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VATG3_HUMAN, Q96LB4
    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008553hydrogen-exporting ATPase activity, phosphorylative mechanism IEA--
    GO:0016820hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances ----
    GO:0051117ATPase binding IPI17360703
         
    ATP6V1G3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATP6V1G3:
     Increased gamma-H2AX phosphory 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP6V1G3 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Insulin receptor recycling0.79
    Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    Transferrin endocytosis and recycling0.79
    Phagosomal maturation (early endosomal stage)0.64
    Iron uptake and transport0.69
    Vibrio cholerae infection0.41
    Collecting duct acid secretion0.68
    Epithelial cell signaling in Helicobacter pylori infection0.33
    2IRS-related events
    Signaling by Insulin receptor0.79
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    4Signaling by GPCR
    Signal Transduction0.55
    5SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/9        Reactome Pathways for ATP6V1G3 (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/8         Kegg Pathways  (Kegg details for ATP6V1G3) (see all 8):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Synaptic vesicle cycle
    Collecting duct acid secretion


    ATP6V1G3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V1G3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/60 Interacting proteins for ATP6V1G3 (ENSP000002810874) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V0BENSP000002360674STRING: ENSP00000236067
    ATP6V0CENSP000003297574STRING: ENSP00000329757
    ATP6V1G1ENSP000003631624STRING: ENSP00000363162
    ATP6V1HENSP000003525224STRING: ENSP00000352522
    ATP6V0E1ENSP000002650934STRING: ENSP00000265093
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015992proton transport ----
    GO:0033572transferrin transport TAS--
    GO:0051701interaction with host TAS--

    ATP6V1G3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for ATP6V1G3:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP6V1G3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Bafilomycin A1H+-ATPase (vacuolar) inhibitor[88899-55-2]
    Concanamycin AH+-ATPase (vacuolar) inhibitor[80890-47-7]
    DisulfiramReversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities[97-77-8]

    4 HMDB Compounds for ATP6V1G3    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Search CenterWatch for drugs/clinical trials and news about ATP6V1G3 / VATG3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATP6V1G3 gene (2 alternative transcripts): 
    NM_133262.2  NM_133326.1  

    Unigene Cluster for ATP6V1G3:

    ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3
    Hs.127743  [show with all ESTs]
    Unigene Representative Sequence: BF509031
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367382 ENST00000309309(uc009wzd.3 uc001guo.3 uc001gup.3)
    ENST00000489986 ENST00000367381 ENST00000281087

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    Additional mRNA sequence: 

    AY039760.1 BC101129.2 BC101130.1 BC101131.2 

    3 DOTS entries:

    DT.403904  DT.100014640  DT.100001209 

    24/41 AceView cDNA sequences (see all 41):

    NM_133262 BF197645 NM_133326 AI439116 AI889008 AI261591 AI288813 AW025421 
    AY039760 AI769508 BF509031 AW237666 AW772161 AI949858 AW241643 AI635711 
    AI863518 AI831521 AI492428 BF195729 AA962432 AI972530 AW027791 AW242725 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1G3    About this scheme

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


    ECgene alternative splicing isoforms for ATP6V1G3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP6V1G3 expression in normal human tissues (normalized intensities)      ATP6V1G3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACCAGAAA
    ATP6V1G3 Expression
    About this image


    ATP6V1G3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Kidney (Urinary System)
             kidney ; cells in tubules   
     
     Lung (Respiratory System)
             lung ; macrophages   
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Blood (Respiratory System)
             lung ; macrophages   

    See ATP6V1G3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V1G3

    SOURCE GeneReport for Unigene cluster: Hs.127743

    UniProtKB/Swiss-Prot: VATG3_HUMAN, Q96LB4
    Tissue specificity: Kidney

        SABiosciences Expression via Pathway-Focused PCR Array including ATP6V1G3: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for ATP6V1G3 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v1g31 , 5 ATPase, H+ transporting, lysosomal V1 subunit G31, 5 84.18(n)1
    83.9(a)1
      1 (60.82 cM)5
    3383751  NM_177397.31  NP_796371.11 
     1382737385 
    chicken
    (Gallus gallus)
    Aves ATP6V1G31 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit more 71.3(n)
    68.7(a)
      424349  XM_422192.1  XP_422192.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V1G36
    ATPase, H+ transporting, lysosomal 13kDa, V1 subun...
    63(a)
    1 ↔ 1
    GL343211.1(436310-467748)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.156442 Transcribed sequence with weak similarity to protein more 82.12(n)    BX732123.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha136
    Vacuolar H[+] ATPase G-subunit
    38(a)
    1 → many
    3R(15468980-15470126)
    worm
    (Caenorhabditis elegans)
    Secernentea vha-106
    Probable V-type proton ATPase subunit G
    37(a)
    1 → many
    I(5609310-5610276)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA10(YHR039C-A)4 Subunit G of the eight-subunit V1 peripheral membrane more   --   8(187679-187173) 856435  NP_011905.1 


    ENSEMBL Gene Tree for ATP6V1G3 (if available)
    TreeFam Gene Tree for ATP6V1G3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP6V1G3 gene
    ATP6V1G2-DDX39B2  ATP6V1G22  ATP6V1G12  
    3 SIMAP similar genes for ATP6V1G3 using alignment to 1 protein entry:     VATG3_HUMAN:
    ATP6V1G2-DDX39B    ATP6V1G1    ATP6V1G2

    ATP6V1G3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/381 SNPs in ATP6V1G3 are shown (see all 381)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2008124961,2
    C--198491866(+) TATTTC/TTNNNN 2 -- ds50010--------
    rs1443358301,2
    --198491902(+) ATGTTA/GTTAGC 2 -- ds50010--------
    rs1487596551,2
    C--198492028(+) TTTGTC/GTCTAT 2 -- ds50010--------
    rs1829954951,2
    --198492088(+) TGACAC/TGTTCA 2 -- ds50010--------
    rs1882799461,2
    --198492164(+) TTTAAC/TACAAT 2 -- ds50010--------
    rs1151941161,2
    C,F--198492267(+) GTTAAA/GAAACA 2 -- ds50011Minor allele frequency- G:0.05WA 118
    rs1928251861,2
    --198492345(+) ATATAA/GCAACA 2 -- ds50010--------
    rs1837371541,2
    --198492346(+) TATAGC/TAACAG 2 -- ds50010--------
    rs1876399811,2
    --198492369(+) TTGTTC/TAATTC 2 -- ut310--------
    rs10551601,2
    C,F,O,A,H--198492454(-) TTCGTA/GTTTTT 2 -- ut31 ese321Minor allele frequency- G:0.11MN NS EA NA WA CSA 2221

    HapMap Linkage Disequilibrium report for ATP6V1G3 (198492352 - 198510075 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ATP6V1G3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv4043CNV Insertion18451855
    nsv832259CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    7 diseases for ATP6V1G3:    About MalaCards
    osteopetrosis    renal tubular acidosis    cholera    rheumatoid arthritis
    arthritis    tuberculosis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for ATP6V1G3:
    Renal tubular acidosis

    ATP6V1G3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): ATP6V1G3

    Export disorders for ATP6V1G3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATP6V1G3 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with ATP6V1G3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association study of hematological and bi ochemical traits in a Japanese population. (PubMed id 20139978)1, 4 Kamatani Y....Kamatani N. (2010)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    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. (PubMed id 12384298)1, 2 Smith A.N.... Karet F.E. (2002)
    5. Structure, function and regulation of the vacuolar (H+)-ATPase. (PubMed id 9442887)1, 3 Stevens T.H. and Forgac M. (1997)
    6. Function of a subunit isoforms of the V-ATPase in pH homeostasis and in vitro invasion of MDA-MB231 human breast cancer cells. (PubMed id 19366680)1 Hinton A....Forgac M. (2009)
    7. V1 and V0 domains of the human H+-ATPase are linked b y an interaction between the G and a subunits. (PubMed id 17360703)1 Norgett E.E....Karet F.E. (2007)
    8. Coupling of rotation and catalysis in F(1)-ATPase rev ealed by single-molecule imaging and manipulation. (PubMed id 17662945)1 Adachi K....Kinosita K. (2007)
    9. Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. (PubMed id 14580332)1 Smith A.N....Karet F.E. (2003)
    10. Neurotransmitter release: the dark side of the vacuolar-H+ATPase. (PubMed id 14597263)1 Morel N. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 127124 HGNC: 18265 AceView: ATP6V1G3 Ensembl:ENSG00000151418 euGenes: HUgn127124
    ECgene: ATP6V1G3 Kegg: 127124 H-InvDB: ATP6V1G3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP6V1G3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP6V1G3 gene:
    Search GeneIP for patents involving ATP6V1G3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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