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TBC1D3G Gene

protein-coding   GIFtS: 34
GCID: GC17M034746

TBC1 Domain Family, Member 3G

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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
TBC1 Domain Family, Member 3G1 2
TBC1 Domain Family Member 3G2

External Ids:    HGNC: 298601   Entrez Gene: 6543412   Ensembl: ENSG000001615837   OMIM: 6108105   UniProtKB: Q6DHY53   

Export aliases for TBC1D3G gene to outside databases

Previous GC identifers: GC17M031872 GC17M034797


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TBC1D3G Gene:
TBC1D3G (TBC1 domain family, member 3G) is a protein-coding gene. GO annotations related to this gene include Rab GTPase activator activity. An important paralog of this gene is TBC1D3H.

UniProtKB/Swiss-Prot: TBC3G_HUMAN, Q6DHY5
Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBC1D3G gene promoter:
         NF-1   NF-1/L   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TBC1D3G

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBC1D3G


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

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q12

TBC1D3G Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D3G gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M034746:  view genomic region     (about GC identifiers)

Start:
34,745,936 bp from pter      End:
34,808,104 bp from pter
Size:
62,169 bases      Orientation:
minus strand

1 alternative location:
Chr17-,NW_003315949 313,367-324,318     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TBC3G_HUMAN, Q6DHY5 (See protein sequence)
Recommended Name: TBC1 domain family member 3G  
Size: 549 amino acids; 62231 Da
Miscellaneous: TBC1D3 is encoded by a collection of very similar paralogs with multiple copies of each paralog,
some human genomes encoding well over 50 copies depending on ethnic origin of the donor
Secondary accessions: A8K8H9

Explore the universe of human proteins at neXtProt for TBC1D3G: NX_Q6DHY5

Explore proteomics data for TBC1D3G at MOPED

Post-translational modifications: 

  • Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation (By similarity)1
  • Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquination (By similarity)1
  • Modification sites at neXtProt

  • See TBC1D3G Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001035372.2  
    ENSEMBL proteins: 
     ENSP00000377966   ENSP00000468205   ENSP00000467534   ENSP00000345014   ENSP00000466750  
     ENSP00000467346   ENSP00000332729   ENSP00000438443   ENSP00000441318  

    TBC1D3G Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000195 Rab-GTPase-TBC_dom

    Graphical View of Domain Structure for InterPro Entry Q6DHY5

    ProtoNet protein and cluster: Q6DHY5

    1 Blocks protein domain: IPB000195 RabGAP/TBC domain

    UniProtKB/Swiss-Prot: TBC3G_HUMAN, Q6DHY5
    Similarity: Contains 1 Rab-GAP TBC domain


    TBC1D3G 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBC3G_HUMAN, Q6DHY5
    Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
         
    TBC1D3G for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TBC1D3G
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TBC3G_HUMAN, Q6DHY5: Cell membrane; Lipid-anchor (By similarity). Note=Associated with lipid rafts (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    cytoskeleton1
    endosome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--

    TBC1D3G for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBC1D3G
    Interactions:

        Search GeneGlobe Interaction Network for TBC1D3G

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TBC1D3G (ENSP000003450144) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAB5AENSP000002730474STRING: ENSP00000273047
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032313regulation of Rab GTPase activity ----

    TBC1D3G for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TBC1D3G (TBC3G)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TBC1D3G gene: 
    NM_001040282.2  

    Unigene Cluster for TBC1D3G:

    TBC1 domain family, member 3G
    Hs.617010
    Unigene Representative Sequence: NM_001040282
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000394453 ENST00000589602 ENST00000592614 ENST00000590913 ENST00000341264(uc002hmm.4)
    ENST00000589513 ENST00000587378 ENST00000587756 ENST00000588999 ENST00000589896
    ENST00000591542 ENST00000586554 ENST00000591233 ENST00000592987 ENST00000588834
    ENST00000589650 ENST00000330458 ENST00000535592(uc002hll.1)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat TBC1D3G

    Additional mRNA sequence: 

    AK225985.1 AK292344.1 BC075809.1 

    2 DOTS entries:

    DT.102843582  DT.97771291 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TBC1D3G expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TBC1D3G Expression
    About this image

    TBC1D3G Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBC1D3G Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.617010
        Custom PCR Arrays for TBC1D3G
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D3G

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TBC1D3G gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia --
    --
    (see all 9)
    Uncharacterized protein
    (see all 9)
    36(a)
    34(a)
    (see all 9)
    many ↔ many
    many ↔ many
    (see all 9)
    4(35158703-35165770)
    22(89476-95800)
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    32(a)
    1 → many
    5(15411217-15475247)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    36(a)
    1 → many
    1(74862925-74883710)
    zebrafish
    (Danio rerio)
    Actinopterygii TBC1D3G6
    TBC1 domain family, member 3G
    14(a)
    1 → many
    25(16824916-16909191) ENSDARG00000086840
    fruit fly
    (Drosophila melanogaster)
    Insecta RN-tre6
    tre oncogene-related protein
    21(a)
    1 → many
    2R(9872320-9878215)
    worm
    (Caenorhabditis elegans)
    Secernentea tbc-176
    Protein TBC-17, isoform d (tbc-17) mRNA, complete ...
    14(a)
    1 → many
    II(12694412-12725483) WBGene00012894


    ENSEMBL Gene Tree for TBC1D3G (if available)
    TreeFam Gene Tree for TBC1D3G (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBC1D3G gene
    TBC1D3H2  TBC1D3F2  TBC1D32  TBC1D262  ENSG000002487512  TBC1D3C2  GRTP12  TBC1D10C2  
    TBC1D10A2  TBC1D10B2  USP6NL2  TBC1D282  TBC1D3B2  
    17 SIMAP similar genes for TBC1D3G using alignment to 6 protein entries:     TBC3G_HUMAN (see all proteins):
    TBC1D3B    TBC1D3F    TBC1D3H    TBC1D3    TBC1D3C    USP6-short
    USP6    TRE17    CDH11/USP6 fusion oncogene    LOC440419    tre    TBC1D26
    TBC1D28    TBC1D29    TBC1D10A    TBC1D10B    FLJ00050

    TBC1D3G 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TBC1D3G (see all 29)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2003484061,2
    C--34796954(+) ACCTAG/TGTTTC 1 -- int10--------
    rs2013963371,2
    C--34797230(+) AGTTTA/GAAGTA 1 -- ut310--------
    rs1996688861,2
    C--34797251(+) CTCACA/GGTGTC 1 -- ut310--------
    rs759989921,2
    F--34797356(+) TGAATG/CTCTCT 1 -- ut311Minor allele frequency- C:0.50NA 2
    rs1457877721,2
    F--34797741(+) GGCCCC/GTCTAC 2 D E mis11Minor allele frequency- G:0.00NA 3116
    rs1452707501,2
    C,F--34797746(+) CTCTAC/TGTCCA 2 I V mis11Minor allele frequency- T:0.00NA 3252
    rs1448303581,2
    F--34797747(+) TCTACG/ATCCAG 2 /D syn11Minor allele frequency- A:0.00NA 3244
    rs1429499171,2
    ----34797757(+) GGTCCG/ATTGGG 2 /T /M mis11Minor allele frequency- A:0.00NA 3216
    rs3737190201,2
    ----34797567(+) TGTTCA/GCCCTA 2 D syn10--------
    rs3704456371,2
    ----34796735(+) TAGAAC/TGTACC 1 -- int10--------

    HapMap Linkage Disequilibrium report for TBC1D3G (34745936 - 34808104 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TBC1D3G (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv471328CNV Duplication19718026
    nsv509654CNV Insertion20534489
    esv29998CNV Loss17803354
    dgv122e55CNV Gain17911159
    nsv526727CNV Gain19592680
    nsv471697CNV Gain15918152
    nsv428340CNV Gain18775914
    nsv469796CNV Gain16826518
    dgv3145n71CNV Gain21882294
    esv2751645CNV Gain17911159

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 610810    OMIM disorders: --


    TBC1D3G for disorders           About GeneDecksing

    Genetic Association Database (GAD): TBC1D3G

    Export disorders for TBC1D3G 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)
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    PubMed articles for TBC1D3G gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TBC1D3G)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. (PubMed id 16863688)1, 3 Hodzic D....Stahl P.D. (Genomics 2006)
    2. Diversity of human copy number variation and multicopy genes. (PubMed id 21030649)2 Sudmant P.H.... Eichler E.E. (Science 2010)
    3. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)4 Melzer D....Ferrucci L. (PLoS Genet. 2008)
    4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (Gene 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 654341 HGNC: 29860 Ensembl:ENSG00000161583 euGenes: HUgn654341 ECgene: TBC1D3G
    H-InvDB: TBC1D3G

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TBC1D3G Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TBC1D3G gene:
    Search GeneIP for patents involving TBC1D3G

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



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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