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

ATP6V1G1 Gene

protein-coding   GIFtS: 63
GCID: GC09P117350

ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G1

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump),...)
(Previous symbols: ATP6J, ATP6G1)
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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 G11 2     V-ATPase Subunit G 12 3
ATP6G11 2 3 5     ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G Isoform 11
ATP6J1 2 3     ATP6GL2
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Member J1 2     Vma102
Vacuolar Proton Pump Subunit G 12 3     V-Type Proton ATPase Subunit G 12
Vacuolar Proton Pump Subunit M162 3     Vacuolar ATP Synthase Subunit M162
ATP6G2 3     Vacuolar H(+)-ATPase Subunit G 12
V-ATPase 13 KDa Subunit 12 3     

External Ids:    HGNC: 8641   Entrez Gene: 95502   Ensembl: ENSG000001368887   OMIM: 6072965   UniProtKB: O753483   

Export aliases for ATP6V1G1 gene to outside databases

Previous GC identifers: GC09P108148 GC09P109082 GC09P110803 GC09P112726 GC09P114429 GC09P116389 GC09P086955


(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 ATP6V1G1 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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1
domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit
proteins. Pseudogenes of this gene have been characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP6V1G1 Gene: 
ATP6V1G1 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1) is a protein-coding gene. Diseases associated with ATP6V1G1 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 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances. An important paralog of this gene is ATP6V1G2-DDX39B.

UniProtKB/Swiss-Prot: VATG1_HUMAN, O75348
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 ATP6V1G1 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 ATP6V1G1 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_000009.11  NC_018920.2  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP6V1G1 gene promoter:
         USF1   NF-1/L   NF-1   HTF   SREBP-1b   SREBP-1a   HSF2   USF-1   ATF6   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V1G1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP6V1G1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V1G1


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

Entrez Gene cytogenetic band: 9q32   Ensembl cytogenetic band:  9q32   HGNC cytogenetic band: 9q33.1

ATP6V1G1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V1G1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P117350:  view genomic region     (about GC identifiers)

Start:
117,349,994 bp from pter      End:
117,361,152 bp from pter
Size:
11,159 bases      Orientation:
plus strand

(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: VATG1_HUMAN, O75348 (See protein sequence)
Recommended Name: V-type proton ATPase subunit G 1  
Size: 118 amino acids; 13758 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)
Secondary accessions: Q6IB33

Explore the universe of human proteins at neXtProt for ATP6V1G1: NX_O75348

Explore proteomics data for ATP6V1G1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75348

  • ATP6V1G1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP6V1G1 Protein Expression
    REFSEQ proteins: NP_004879.1  
    ENSEMBL proteins: 
     ENSP00000363162  
    Reactome Protein details: O75348
    Human Recombinant Protein Products for ATP6V1G1: 
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    Cloud-Clone Corp. Proteins for ATP6V1G1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ISS--
    GO:0016471vacuolar proton-transporting V-type ATPase complex IEA--

    ATP6V1G1 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: G1 
    V-type ATPase

    1 InterPro protein domain:
     IPR005124 V-ATPase_G

    Graphical View of Domain Structure for InterPro Entry O75348

    ProtoNet protein and cluster: O75348

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

    UniProtKB/Swiss-Prot: VATG1_HUMAN, O75348
    Similarity: Belongs to the V-ATPase G subunit family


    ATP6V1G1 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: VATG1_HUMAN, O75348
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016820hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances IEA--
    GO:0051117ATPase binding IPI17360703
         
    ATP6V1G1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ATP6V1G1:
     Decreased influenza A virus in  Increased G1 DNA content 

         1 MGI phenotypic allele for Atp6v1g1 (no phenotypes)

    ATP6V1G1 for phenotypes           About GeneDecksing

    Animal Models:
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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 ATP6V1G1 About   (see all 11)                                                                                              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


    1 BioSystems Pathway for ATP6V1G1
        Osteoclast Signaling


    5/9        Reactome Pathways for ATP6V1G1 (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 ATP6V1G1) (see all 8):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Synaptic vesicle cycle
    Collecting duct acid secretion


    ATP6V1G1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V1G1

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

    5/68 Interacting proteins for ATP6V1G1 (O753482, 3 ENSP000003631624) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V1E1P365432, 3, ENSP000002534134MINT-63717 I2D: score=12 STRING: ENSP00000253413
    AP2B1P630102, 3, ENSP000003144144MINT-67575 I2D: score=5 STRING: ENSP00000314414
    ATP6V1E2Q96A053, ENSP000003048914I2D: score=1 STRING: ENSP00000304891
    ATP6V1FQ168643, ENSP000002492894I2D: score=1 STRING: ENSP00000249289
    ATP6V0CP274493, ENSP000003297574I2D: score=1 STRING: ENSP00000329757
    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 IEA--
    GO:0033572transferrin transport TAS--
    GO:0051701interaction with host TAS--

    ATP6V1G1 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 ATP6V1G1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP6V1G1 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 ATP6V1G1    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 ATP6V1G1 / VATG1

    (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 ATP6V1G1 gene: 
    NM_004888.3  

    Unigene Cluster for ATP6V1G1:

    ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1
    Hs.388654  [show with all ESTs]
    Unigene Representative Sequence: NM_004888
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374050(uc004bjc.3) ENST00000473413

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    Additional mRNA sequence: 

    BC003564.1 BC008452.1 CR456971.1 CR542237.1 

    19 DOTS entries:

    DT.100845327  DT.40202765  DT.100805552  DT.100753597  DT.95168558  DT.100845324  DT.121144500  DT.100839098 
    DT.121144460  DT.100766175  DT.100845326  DT.121144498  DT.40118183  DT.91762207  DT.91762208  DT.95168559 
    DT.95168571  DT.97862276  DT.92006980 

    24/708 AceView cDNA sequences (see all 708):

    BU069885 AI143083 BQ778367 AA102820 AW160524 BM353659 AI879508 CB070152 
    CF128393 BM873719 BM834637 AA421157 BM668430 AA843953 BU069487 BM351834 
    BM352589 W72462 BM460278 CA413271 BU072726 BQ646399 AA962234 AV761263 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1G1    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c · 3d
    SP1:                          -           -                           
    SP2:                          -           -                           
    SP3:                                      -                           
    SP4:                                                                  
    SP5:                          -     -     -                           


    ECgene alternative splicing isoforms for ATP6V1G1

    (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

    ATP6V1G1 expression in normal human tissues (normalized intensities)      ATP6V1G1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ATP6V1G1 Expression
    About this image


    ATP6V1G1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Eye (Sensory Organs)
             Retina
     
     Lung (Respiratory System)
             Stem Bronchi

    See ATP6V1G1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V1G1

    SOURCE GeneReport for Unigene cluster: Hs.388654

    UniProtKB/Swiss-Prot: VATG1_HUMAN, O75348
    Tissue specificity: Ubiquitous

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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 ATP6V1G1 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v1g11 , 5 ATPase, H+ transporting, lysosomal V1 subunit G11, 5 91.53(n)1
    94.92(a)1
      4 (34.01 cM)5
    662901  NM_024173.21  NP_077135.11 
     635447725 
    chicken
    (Gallus gallus)
    Aves ATP6V1G11 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit more 81.07(n)
    84.75(a)
      417249  XM_415525.3  XP_415525.2 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V1G16
    Uncharacterized protein
    84(a)
    1 ↔ 1
    GL343494.1(52816-59894)
    African clawed frog
    (Xenopus laevis)
    Amphibia atp6v1g1-prov2 ATPase, H+ transporting, V1 subunit G isoform 1 75(n)    BC056050.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa12a022 wufa12a02 76.25(n)   335025  BC059611.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha136
    Vacuolar H[+] ATPase G-subunit
    48(a)
    1 → many
    3R(15468980-15470126)
    worm
    (Caenorhabditis elegans)
    Secernentea vha-101 Protein VHA-10 56.93(n)
    53.1(a)
      172216  NM_059240.3  NP_491641.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA106
    Subunit G of the eight-subunit V1 peripheral membr...
    37(a)
    1 → many
    VIII(187173-187679)


    ENSEMBL Gene Tree for ATP6V1G1 (if available)
    TreeFam Gene Tree for ATP6V1G1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP6V1G1 gene
    ATP6V1G2-DDX39B2  ATP6V1G32  ATP6V1G22  
    3 SIMAP similar genes for ATP6V1G1 using alignment to 1 protein entry:     VATG1_HUMAN:
    ATP6V1G2-DDX39B    ATP6V1G2    ATP6V1G3

    ATP6V1G1 for paralogs           About GeneDecksing


    5/6 Pseudogenes.org Pseudogenes for ATP6V1G1 (see all 6)
    PGOHUM00000238722 PGOHUM00000247913 PGOHUM00000235668 PGOHUM00000235812 PGOHUM00000249326


    (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

    10/277 SNPs in ATP6V1G1 are shown (see all 277)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1847782961,2
    --117348033(+) TCAGAA/GAAGGA 1 -- us2k10--------
    rs774636341,2
    C,F--117348061(+) CCAACC/TCCACC 1 -- us2k11Minor allele frequency- T:0.22EA 120
    rs1879848261,2
    --117348073(+) CGTCAA/CTCAAA 1 -- us2k10--------
    rs45858091,2
    H--117348089(+) ATGTCC/TTGAGC 1 -- us2k14Minor allele frequency- T:0.00NS EA 418
    rs1380254461,2
    C--117348099(+) CCATGA/CATCCA 1 -- us2k10--------
    rs752191871,2
    C,F--117348195(+) CTGGTC/TCTTTC 1 -- us2k11Minor allele frequency- T:0.05WA 118
    rs736561331,2
    C,F--117348296(+) ATAGGG/AGCATG 1 -- us2k12Minor allele frequency- A:0.04WA 120
    rs736561531,2
    C--117348323(+) CTTTGC/TGACTC 1 -- us2k13Minor allele frequency- T:0.12WA NA 240
    rs122384371,2
    C,F,H--117348466(+) CGGTGG/AATGGG 1 -- us2k120Minor allele frequency- A:0.19NS EA NA WA 2754
    rs597374681,2
    C--117348529(+) CTTTT-/CCCCTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP6V1G1 (117349994 - 117361152 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ATP6V1G1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv33e196CNV Duplication17116639
    nsv893750CNV Loss21882294
    nsv831694CNV Gain17160897
    dgv948n27CNV Gain19166990
    nsv7433OTHER Inversion18451855

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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
    OMIM gene information: 607296    OMIM disorders: --

    8 diseases for ATP6V1G1:    About MalaCards
    osteopetrosis    renal tubular acidosis    atrophic gastritis    gastritis
    cholera    rheumatoid arthritis    arthritis    tuberculosis


    ATP6V1G1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): ATP6V1G1

    Export disorders for ATP6V1G1 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 ATP6V1G1 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with ATP6V1G1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full- length cDNA cloning. (PubMed id 9653160)1, 2, 3 Mao M.... Chen Z. (1998)
    2. 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)
    3. 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)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. ErbB2-associated changes in the lysosomal proteome. (PubMed id 21674799)1 Nylandsted J....Jaattela M. (2011)

    (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: 9550 HGNC: 864 AceView: ATP6V1G1 Ensembl:ENSG00000136888 euGenes: HUgn9550
    ECgene: ATP6V1G1 Kegg: 9550 H-InvDB: ATP6V1G1

    (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 ATP6V1G1 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 ATP6V1G1 gene:
    Search GeneIP for patents involving ATP6V1G1

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



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    About This Section

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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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