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

TBC1D3B Gene

protein-coding   GIFtS: 37
GCID: GC17M034492

TBC1 domain family, member 3B

(Previous names: TBC1 domain family, member 3I )
(Previous symbol: TBC1D3I)
 Explore 3 diseases affiliated with
TBC1D3B via our new
 Human Malady Compendium 
Biological research products
for TBC1D3B
    

(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 3B1 2     Prostate Cancer Gene 17 Duplicate2
TBC1D3I1 2 3     Rab GTPase-Activating Protein PRC17 Duplicate2
PRC171 2 5     TBC1 Domain Family Member 3B2
TBC1 Domain Family, Member 3I1 2     TBC1 Domain Family Member 3B/I2

External Ids:    HGNC: 270111   Entrez Gene: 4140592   Ensembl: ENSG000002242267   OMIM: 6101445   UniProtKB: A6NDS43   

Export aliases for TBC1D3B gene to outside databases

Previous GC identifer: GC17M031519


(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 TBC1D3B:
This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p,
and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are
multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. (provided by RefSeq, Apr
2009)

UniProtKB/Swiss-Prot: TBC3B_HUMAN, A6NDS4
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010799.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBC1D3B gene promoter:
         Pbx1a   CUTL1   LCR-F1   C/EBPalpha   MEF-2A   MZF-1   HSF2   c-Myb   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TBC1D3B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D3B


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

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q21.1

TBC1D3B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D3B gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M034492:  view genomic region     (about GC identifiers)

Start:
34,493,061 bp from pter      End:
34,503,996 bp from pter
Size:
10,936 bases      Orientation:
minus strand

1 alternative location:
Chr17-,PATCHES 34,507,296-34,518,223     

(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: TBC3B_HUMAN, A6NDS4 (See protein sequence)
Recommended Name: TBC1 domain family member 3B  
Size: 549 amino acids; 62315 Da
Secondary accessions: A8K892

Explore the universe of human proteins at neXtProt for TBC1D3B: NX_A6NDS4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A6NDS4

  • TBC1D3B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001001417.5  
    ENSEMBL proteins: 
     ENSP00000390852   ENSP00000466792   ENSP00000464888   ENSP00000466703   ENSP00000381781  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TBC1D3B

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

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


    TBC1D3B for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TBC1D3B


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

    TBC1D3B for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry A6NDS4

    ProtoNet protein and cluster: A6NDS4

    UniProtKB/Swiss-Prot: TBC3B_HUMAN, A6NDS4
    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: TBC3B_HUMAN, A6NDS4
    Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity)

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D3B

    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--


    TBC1D3B 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 TBC1D3B

    (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 TBC1D3B
    Search CenterWatch for drugs/clinical trials and news about TBC1D3B / TBC3B 

    (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 TBC1D3B gene: 
    NM_001001417.5  

    Unigene Cluster for TBC1D3B:

    TBC1 domain family, member 3B
    Hs.105891  [show with all ESTs]
    Unigene Representative Sequence: NM_001001417
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000454519(uc002hky.2) ENST00000588574 ENST00000586369 ENST00000589443
    ENST00000589139 ENST00000398801

    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBC1D3B
    OriGene shRNA RFP: TBC1D3B
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D3B 
    Primer
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBC1D3B
    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D3B
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D3B

    Additional cDNA sequence: AK292257.1 

    19 DOTS entries:

    DT.92042803  DT.102843582  DT.97771291  DT.212833  DT.120948306  DT.91828704  DT.95298563  DT.102843998 
    DT.120994618  DT.120894916  DT.120894920  DT.120948289  DT.100742312  DT.100787971  DT.120910090  DT.120948285 
    DT.120948301  DT.91767081  DT.95298566 

    24/48 AceView cDNA sequences (see all 48):

    CA394892 BX281608 BI520522 AL045766 AX775947 BU542901 AV650439 BC075809 
    AF540953 BQ920917 BI828272 BC033670 BM553146 BI827136 BI829764 BQ942166 
    AX775951 BX644661 BQ923700 BF091359 BI519993 BM846014 BM842932 AK095385 

    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

    TBC1D3B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See TBC1D3B Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.105891
        SABiosciences Custom PCR Arrays for TBC1D3B
    Primer
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBC1D3B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D3B

    (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 TBC1D3B 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
    25(a)
    1 → many
    5(17180663-17259945)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    31(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 TBC1D3B (if available)
    TreeFam Gene Tree for TBC1D3B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBC1D3B gene
    TBC1D3C1 2  TBC1D3G1 2  TBC1D3H1 2  TBC1D31 2  TBC1D3F1 2  SGSM32  TBC1D2B2  GRTP12  
    TBC1D10C2  TBC1D10B2  TBC1D262  ENSG000002487512  TBC1D10A2  TBC1D22  USP6NL2  TBC1D282  
    14 SIMAP similar genes for TBC1D3B using alignment to 2 protein entries:     TBC3B_HUMAN (see all proteins):
    TBC1D3F    TBC1D3C    TBC1D3H    TBC1D3    TBC1D3G    USP6-short
    tre    TRE17    USP6    LOC440419    TBC1D26    TBC1D28
    TBC1D29    TBC1D10C

    TBC1D3B 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

    10/30 NCBI SNPs in TBC1D3B are shown (see all 30    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2016338411,2
    C,F--34499240(+) AAGAAC/TATATG 2 I M mis11Minor allele frequency- T:0.07EU 967
    rs1999128581,2
    C,F,--34499247(+) TATGCT/CTCCTT 2 /K /R mis11Minor allele frequency- C:0.12EU 1011
    rs1998787211,2
    F--34499285(+) CGCTGG/CATGTG 2 /I /M mis11Minor allele frequency- C:0.00EU 1061
    rs2018213371,2
    F--34499676(+) TTTCAA/TCTTCA 2 M L mis11Minor allele frequency- T:0.01EU 545
    rs2004667951,2
    F--34499690(+) CCTCAA/GTGTTC 2 T I mis11Minor allele frequency- G:0.01EU 639
    rs2007276931,2
    C,F--34499713(+) CACATC/TGGGCC 2 P syn11Minor allele frequency- T:0.00EU 885
    rs1997765081,2
    F--34499765(+) GCTGTG/AGGCAG 1 -- int11Minor allele frequency- A:0.02EU 715
    rs2001647231,2
    F--34499766(+) CTGTGG/TGCAGA 1 -- int11Minor allele frequency- T:0.01EU 400
    rs2017315471,2
    ----34505788(+) CCCTCA/GCTATC 1 -- us2k10--------
    rs2004535311,2
    ----34505786(+) CTCCCG/TCACTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TBC1D3B (34493061 - 34503996 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 25 variations for TBC1D3B
         15/25 CNVs (see all 25): 37558 88443 7154 72880 88435 8841 30824 35451 35450 88438 88441 5003 88440 77579 88439

    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

    TBC1D3B for disorders           About GeneDecksing

    OMIM gene information: 610144    OMIM disorders: --

    3 diseases for TBC1D3B:    About MalaCards
    prostate cancer    prostatitis    malaria


    Export disorders for TBC1D3B 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 TBC1D3B gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TBC1D3B)
        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. (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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. (PubMed id 12359748)3 Pei L.... Li J. (2002)
    5. 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: 414059 HGNC: 27011 AceView: TBC1D3.2 Ensembl:ENSG00000224226 euGenes: HUgn414059
    ECgene: TBC1D3B H-InvDB: TBC1D3B

    (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 TBC1D3B 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 TBC1D3B gene:
    Search GeneIP for patents involving TBC1D3B

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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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