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

TBC1D3C Gene

protein-coding   GIFtS: 37
GCID: GC17M034580

TBC1 Domain Family, Member 3C

  See related diseases
at  

(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
TBC1 Domain Family, Member 3C1 2
TBC1D3D2 3
Rab GTPase-Activating Protein PRC172
TBC1 Domain Family Member 3C2
TBC1 Domain Family Member 3C-Like Protein ENSP000003417422
TBC1 Domain Family Member 3C/3D2

External Ids:    HGNC: 248891   Entrez Gene: 4140602   Ensembl: ENSG000002349727   OMIM: 6108065   UniProtKB: Q6IPX13   

Export aliases for TBC1D3C gene to outside databases

Previous GC identifer: GC17M031606


(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 TBC1D3C Gene:
This gene represents one of at least 8 paralogs of TBC1D3 gene found on chromosome 17. These paralogs appear to be
differentially expressed in human tissues. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p,
and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking.
(provided by RefSeq, May 2011)

GeneCards Summary for TBC1D3C Gene: 
TBC1D3C (TBC1 domain family, member 3C) is a protein-coding gene. Diseases associated with TBC1D3C include prostate cancer, and prostatitis. GO annotations related to this gene include Rab GTPase activator activity. An important paralog of this gene is TBC1D3H.

UniProtKB/Swiss-Prot: TBC3C_HUMAN, Q6IPX1
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010799.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBC1D3C gene promoter:
         C/EBPbeta   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 TBC1D3C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D3C


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

TBC1D3C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D3C gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M034580:  view genomic region     (about GC identifiers)

Start:
34,580,902 bp from pter      End:
34,757,050 bp from pter
Size:
176,149 bases      Orientation:
minus strand

1 alternative location:
Chr17-,NW_003315949 138,395-149,319     

(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: TBC3C_HUMAN, Q6IPX1 (See protein sequence)
Recommended Name: TBC1 domain family member 3C  
Size: 549 amino acids; 62251 Da

Explore the universe of human proteins at neXtProt for TBC1D3C: NX_Q6IPX1

Explore proteomics data for TBC1D3C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6IPX1

  • TBC1D3C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBC1D3C Protein Expression
    REFSEQ proteins: NP_001001418.4  
    ENSEMBL proteins: 
     ENSP00000337671   ENSP00000390761   ENSP00000468595   ENSP00000308718   ENSP00000399291  

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    Cloud-Clone Corp. Proteins for TBC1D3C 

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

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

    TBC1D3C 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
    1 InterPro protein domain:
     IPR000195 Rab-GTPase-TBC_dom

    Graphical View of Domain Structure for InterPro Entry Q6IPX1

    ProtoNet protein and cluster: Q6IPX1

    1 Blocks protein domain: IPB000195 RabGAP/TBC domain

    UniProtKB/Swiss-Prot: TBC3C_HUMAN, Q6IPX1
    Similarity: Contains 1 Rab-GAP TBC domain


    TBC1D3C 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: TBC3C_HUMAN, Q6IPX1
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
         
    TBC1D3C for ontologies           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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBC1D3C

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

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

    TBC1D3C 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBC1D3C (TBC3C)

    Search CenterWatch for drugs/clinical trials and news about TBC1D3C / TBC3C

    (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 TBC1D3C gene: 
    NM_001001418.5  

    Unigene Cluster for TBC1D3C:

    TBC1 domain family, member 3C
    Hs.454716  [show with all ESTs]
    Unigene Representative Sequence: AK095385
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000336331 ENST00000398688 ENST00000457979(uc002hlk.2) ENST00000591555
    ENST00000585570 ENST00000588590 ENST00000308078 ENST00000451448
    miRNA
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D3C

    Additional mRNA sequence: 

    AB449884.1 AF540953.1 AK095385.1 AK292308.1 AK301823.1 AL136860.1 BC071680.1 BC078140.1 

    23 DOTS entries:

    DT.92042803  DT.212833  DT.102843582  DT.97771291  DT.95298566  DT.95298563  DT.100824474  DT.120994568 
    DT.100787972  DT.91767097  DT.120894920  DT.120994561  DT.91767081  DT.97858652  DT.120894926  DT.120894931 
    DT.95331186  DT.100787971  DT.120910090  DT.120948228  DT.120948234  DT.120948301  DT.120994618 

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

    CA394892 BX281608 BM553146 AK095385 BM563571 BU542901 BI519993 BC075809 
    CD653466 AL045766 AA350665 AX775945 BI753688 BI828272 AV650439 BI832051 
    BM843014 BI827136 BM842932 BI520522 BX279913 BF091359 AX775949 BX644661 

    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

    TBC1D3C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TBC1D3C Expression
    About this image


    See TBC1D3C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBC1D3C

    SOURCE GeneReport for Unigene cluster: Hs.454716

    UniProtKB/Swiss-Prot: TBC3C_HUMAN, Q6IPX1
    Tissue specificity: Expressed in pancreas, thymus and testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D3C

    (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 TBC1D3C gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia --
    --
    (see all 10)
    --
    35(a)
    32(a)
    (see all 10)
    possible ortholog
    possible ortholog
    (see all 10)
    4(35158703-35165770)
    6(40461881-40472255)
    chicken
    (Gallus gallus)
    Aves --
    --
    30(a)
    1 → many
    5(15411217-15475247)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    36(a)
    1 → many
    1(74862925-74883710)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-288d18.16
    si:dkeyp-19e1.36
    si:dkeyp-19e1.3
    22(a)
    20(a)
    many ↔ many
    many ↔ many
    7(50477638-50513235)
    25(24844950-24903338)
    fruit fly
    (Drosophila melanogaster)
    Insecta RN-tre6
    tre oncogene-related protein
    18(a)
    1 → many
    2R(9872320-9878215)
    worm
    (Caenorhabditis elegans)
    Secernentea tbc-176
    Protein TBC-17, isoform a
    12(a)
    1 → many
    II(12694410-12725483)


    ENSEMBL Gene Tree for TBC1D3C (if available)
    TreeFam Gene Tree for TBC1D3C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBC1D3C gene
    TBC1D3G1 2  TBC1D3B1 2  TBC1D3H1 2  TBC1D31 2  TBC1D3F1 2  TBC1D262  ENSG000002487512  GRTP12  
    TBC1D10C2  TBC1D10A2  TBC1D10B2  USP6NL2  TBC1D282  
    14 SIMAP similar genes for TBC1D3C using alignment to 3 protein entries:     TBC3C_HUMAN (see all proteins):
    TBC1D3B    TBC1D3H    TBC1D3F    TBC1D3G    TBC1D3    TRE17
    USP6    USP6-short    LOC440419    tre    TBC1D26    TBC1D28
    TBC1D29    FLJ00050

    TBC1D3C for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TBC1D3C
    PGOHUM00000261233 PGOHUM00000262960


    (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
    Structural Variations
         Database of Genomic Variants (DGV) 10/21 variations for TBC1D3C (see all 21):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv821611CNV Deletion20802225
    dgv546e199CNV Deletion23128226
    dgv12n31CNV Duplication19718026
    nsv436845CNV Insertion17901297
    esv33107CNV Loss17666407
    nsv2040CNV Loss18451855
    esv29998CNV Loss17803354
    nsv511598CNV Loss21212237
    dgv122e55CNV Gain17911159
    nsv526727CNV Gain19592680

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610806    OMIM disorders: --

    2 diseases for TBC1D3C:    About MalaCards
    prostate cancer    prostatitis


    TBC1D3C for disorders           About GeneDecksing


    Export disorders for TBC1D3C 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 TBC1D3C gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TBC1D3C)
        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. PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. (PubMed id 12359748)1, 3 Pei L.... Li J. (2002)
    3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
    4. 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. (2004)
    5. The Tre2 (USP6) oncogene is a hominoid-specific gene. (PubMed id 12604796)1 Paulding C.A.... Haber D.A. (2003)
    6. 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)
    7. Generation and analysis of 280,000 human expressed sequence tags. (PubMed id 8889549)1 Hillier L.D....Marra M. (1996)

    (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: 414060 HGNC: 24889 AceView: TBC1D3.2 Ensembl:ENSG00000234972 euGenes: HUgn414060
    ECgene: TBC1D3C H-InvDB: TBC1D3C

    (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 TBC1D3C 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 TBC1D3C gene:
    Search GeneIP for patents involving TBC1D3C

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     EMD Millipore Custom Antibody & Bulk Services
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     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for TBC1D3C  
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     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TBC1D3C
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     GenScript Custom Purified and Recombinant Proteins Services for TBC1D3C GenScript cDNA clones with any tag delivered in your preferred vector for TBC1D3C
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     Regulatory tfbs in TBC1D3C promoter
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
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     Proteins for TBC1D3C
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D3C
     inGenious Targeting Laboratory - Custom generated mouse model solutions for TBC1D3C
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TBC1D3C
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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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