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

TBC1D3F Gene

protein-coding   GIFtS: 43
GCID: GC17P036283

TBC1 domain family, member 3F

 Explore 3 diseases affiliated with
TBC1D3F via our new
 Human Malady Compendium 
Biological research products
for TBC1D3F
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
TBC1 Domain Family, Member 3F1 2     TBC1 Domain Family Member 32
TBC1D32     TBC1 Domain Family Member 3F2
Prostate Cancer Gene 17 Protein2     TBC1D3E3
Protein TRE17-Alpha2     

External Ids:    HGNC: 182571   Entrez Gene: 842182   Ensembl: ENSG000001851287   OMIM: 6108095   UniProtKB: A6NER03   

Export aliases for TBC1D3F gene to outside databases

Previous GC identifers: GC17M031607 GC17U900818 GC17P033363 GC17M033595 GC17M030678


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

UniProtKB/Swiss-Prot: TBC3F_HUMAN, A6NER0
Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity)

Gene Wiki entry for TBC1D3F (TBC1D3)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBC1D3F gene promoter:
         NF-1/L   NF-1   HTF   Lmo2   ATF   Egr-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D3F promoter sequence
   Search SABiosciences Chromatin IP Primers for TBC1D3F

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D3F


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

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

TBC1D3F Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D3F gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P036283:  view genomic region     (about GC identifiers)

Start:
36,283,960 bp from pter      End:
36,294,915 bp from pter
Size:
10,956 bases      Orientation:
plus strand

1 alternative location:
Chr17-,PATCHES 34,770,219-34,781,173     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TBC3F_HUMAN, A6NER0 (See protein sequence)
Recommended Name: TBC1 domain family member 3F  
Size: 549 amino acids; 62156 Da

Explore the universe of human proteins at neXtProt for TBC1D3F: NX_A6NER0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A6NER0

  • TBC1D3F Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_115634.2  
    ENSEMBL proteins: 
     ENSP00000329256   ENSP00000467535   ENSP00000421962   ENSP00000367416   ENSP00000443859  

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    Novus Biologicals TBC1D3F Proteins
    Novus Biologicals TBC1D3F Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TBC1D3F

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--


    TBC1D3F for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TBC1D3F for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000195 Rab-GTPase-TBC_dom

    Graphical View of Domain Structure for InterPro Entry A6NER0

    ProtoNet protein and cluster: A6NER0

    UniProtKB/Swiss-Prot: TBC3F_HUMAN, A6NER0
    Similarity: Contains 1 Rab-GAP TBC domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TBC3F_HUMAN, A6NER0
    Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity)

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    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--


    TBC1D3F for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBC1D3F

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for TBC1D3F (A6NER03 ENSP000003292564) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAEP622583, ENSP000002643354I2D: score=1 STRING: ENSP00000264335
    RAB5AP203393, ENSP000002730474I2D: score=1 STRING: ENSP00000273047
    CDC42P609533, ENSP000003144584I2D: score=2 STRING: ENSP00000314458
    RAC1P630003, ENSP000003484614I2D: score=2 STRING: ENSP00000348461
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBC1D3F
    Search CenterWatch for drugs/clinical trials and news about TBC1D3F / TBC3F 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TBC1D3F gene: 
    NM_032258.2  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000327454(uc002hoo.2 uc010cvf.1) ENST00000442786(uc002hop.2 uc010wdj.1)
    ENST00000513862 ENST00000505415(uc002hoq.2) ENST00000378174 ENST00000539424(uc010wdk.1)


    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidTBC1D3F 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    Browse OriGene 29mer shRNA kits
    OriGene siRNA: TBC1D3F
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBC1D3F
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D3F
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D3F
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: TBC1D3F (NM_032258)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D3F 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D3F
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    24/48 AceView cDNA sequences (see all 48):

    BX281608 CA394892 BU542901 BC033670 BI829764 CD653466 AK095385 BM842553 
    BG718044 AV650439 AX775945 BM846014 BF091359 BM563571 BX279913 BC075809 
    BQ942166 BQ923700 BM762465 BI832051 BX644661 BM914524 BF809416 BI828272 

    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™, 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

    TBC1D3F expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTGAAATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TBC1D3F Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBC1D3F

    UniProtKB/Swiss-Prot: TBC3F_HUMAN, A6NER0
    Tissue specificity: Expressed in most tissues including pancreas, thymus and testis

        SABiosciences Custom PCR Arrays for TBC1D3F
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D3F

    (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.

    Orthologs for TBC1D3F gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves USP6NL6
    Uncharacterized protein
    26(a)
    1 → many
    5(17180663-17259945)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    32(a)
    1 → many
    1(74862925-74883702)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-288d18.16
    si:dkeyp-19e1.36
    si:dkeyp-19e1.3
    20(a)
    17(a)
    many ↔ many
    many ↔ many
    7(50477638-50513235)
    25(24844950-24903338)
    fruit fly
    (Drosophila melanogaster)
    Insecta RN-tre6
    tre oncogene-related protein
    15(a)
    1 → many
    2R(9872320-9878215)
    worm
    (Caenorhabditis elegans)
    Secernentea tbc-176
    TBC (Tre-2/Bub2/Cdc16) domain family member (tbc-1...
    11(a)
    1 → many
    II(12694340-12725413)


    ENSEMBL Gene Tree for TBC1D3F (if available)
    TreeFam Gene Tree for TBC1D3F (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBC1D3F gene
    TBC1D31 2  TBC1D3G1 2  TBC1D3H1 2  TBC1D3C1 2  TBC1D3B1 2  SGSM32  TBC1D2B2  GRTP12  
    TBC1D10C2  TBC1D10B2  TBC1D262  ENSG000002487512  TBC1D10A2  TBC1D22  USP6NL2  TBC1D282  
    16 SIMAP similar genes for TBC1D3F using alignment to 3 protein entries:     TBC3F_HUMAN (see all proteins):
    TBC1D3B    TBC1D3H    TBC1D3    TBC1D3G    TBC1D3C    USP6-short
    USP6    tre    TRE17    CDH11/USP6 fusion oncogene    LOC440419    TBC1D26
    TBC1D28    TBC1D29    TBC1D10A    TBC1D10C

    TBC1D3F for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/20 NCBI SNPs in TBC1D3F are shown (see all 20    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs29447441,2
    --36282020(-) TCTTGC/TAGCTC 1 -- us2k10--------
    rs1445262481,2
    --36282171(+) GCGCGA/GGAGTT 1 -- us2k10--------
    rs1453932651,2
    --36286613(+) GTGGCC/TCGGGT 1 -- int10--------
    rs115507501,2
    C--36288278(+) TGAAGA/TTGAAA 2 M L mis10--------
    rs2013301881,2
    --36290307(+) GACGC-/CCTCCTCC 1 -- int10--------
    rs2008766531,2
    --36294118(+) AGGCCC/TCTCCA 2 P S mis10--------
    rs2000298371,2
    --36294478(+) CACCCA/GGCACT 2 S G mis10--------
    rs2011959871,2
    ----36287825(+) CCATCA/TGCCTC 1 -- int10--------
    rs2018321081,2
    ----36288024(+) ACTCTC/GAGTGT 1 -- int10--------
    rs1998884361,2
    ----36287809(+) TGGCTG/TTGGCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for TBC1D3F (36283960 - 36294915 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 12 variations for TBC1D3F
         11 CNVs: 77584 77586 88451 72914 5005 88450 77587 88449 88448 4034 77585
         1 Inversion: 37189

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TBC1D3F for disorders           About GeneDecksing

    OMIM gene information: 610809    OMIM disorders: --

    3 diseases for TBC1D3F:    About MalaCards
    prostate cancer    prostatitis    malaria


    Export disorders for TBC1D3F 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 TBC1D3F gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with TBC1D3F)
        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, 2, 3 Hodzic D....Stahl P.D. (2006)
    2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (2006)
    3. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (2010)
    4. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)1 Ishibashi K.... Fukuda M. (2009)
    5. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    7. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)
    8. The TRE17 oncogene encodes a component of a novel effector pathway for Rho GTPases Cdc42 and Rac1 and stimulates actin remodeling. (PubMed id 12612085)1 Masuda-Robens J.M....Chou M.M. (2003)
    9. PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. (PubMed id 12359748)1 Pei L.... Li J. (2002)
    10. 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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 84218 HGNC: 18257 AceView: TBC1D3.2 Ensembl:ENSG00000185128 euGenes: HUgn84218
    ECgene: TBC1D3F H-InvDB: TBC1D3F

    (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 TBC1D3F 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 TBC1D3F gene:
    Search GeneIP for patents involving TBC1D3F

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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D3F
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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