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

TBC1D3 Gene

protein-coding   GIFtS: 39
GCID: GC17M036338

TBC1 Domain Family, Member 3

  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 31 2     Rab GTPase-Activating Protein PRC172 3
PRC172 3 5     Prostate Cancer Gene 171
TBC1D3A2 3 5     TBC1D3F2
Prostate Cancer Gene 17 Protein2 3     TBC1 Domain Family Member 32
Protein TRE17-Alpha2 3     TBC1 Domain Family, Member 3F2

External Ids:    HGNC: 190311   Entrez Gene: 7298732   Ensembl: ENSG000001976817   OMIM: 6077415   UniProtKB: Q8IZP13   

Export aliases for TBC1D3 gene to outside databases

Previous GC identifers: GC17P036015 GC17M036712 GC17P033358 GC17M033413 GC17M033592 GC17M033594


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

GeneCards Summary for TBC1D3 Gene: 
TBC1D3 (TBC1 domain family, member 3) is a protein-coding gene. Diseases associated with TBC1D3 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: TBC3A_HUMAN, Q8IZP1
Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11




(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_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBC1D3 gene promoter:
         STAT1   GATA-3   STAT4   STAT1beta   STAT5A   STAT1alpha   c-Rel   STAT2   STAT3   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D3 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBC1D3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D3


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

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

TBC1D3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M036338:  view genomic region     (about GC identifiers)

Start:
36,337,528 bp from pter      End:
36,358,166 bp from pter
Size:
20,639 bases      Orientation:
minus strand

1 alternative location:
Chr17+,NW_003315949 208,603-219,515     

(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: TBC3A_HUMAN, Q8IZP1 (See protein sequence)
Recommended Name: TBC1 domain family member 3  
Size: 549 amino acids; 62168 Da
Secondary accessions: A6NGX2 Q9H0B9 Q9UDD4

Explore the universe of human proteins at neXtProt for TBC1D3: NX_Q8IZP1

Explore proteomics data for TBC1D3 at MOPED 

TBC1D3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

TBC1D3 Protein Expression

REFSEQ proteins: NP_001116863.2  
ENSEMBL proteins: 
 ENSP00000428847   ENSP00000427748   ENSP00000429762   ENSP00000346691   ENSP00000429926  
 ENSP00000439621   ENSP00000339993  

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

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

TBC1D3 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 Q8IZP1

ProtoNet protein and cluster: Q8IZP1

1 Blocks protein domain: IPB000195 RabGAP/TBC domain

UniProtKB/Swiss-Prot: TBC3A_HUMAN, Q8IZP1
Similarity: Contains 1 Rab-GAP TBC domain


TBC1D3 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: TBC3A_HUMAN, Q8IZP1
Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11

     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--
     
TBC1D3 for ontologies           About GeneDecksing


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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:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TBC1D3

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for TBC1D3 (ENSP000003466914) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
GGA3ENSP000002455414STRING: ENSP00000245541
YWHAEENSP000002643354STRING: ENSP00000264335
About this table

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 ----

TBC1D3 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 TBC1D3 (TBC3A)

Search CenterWatch for drugs/clinical trials and news about TBC1D3 / TBC3A

(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 TBC1D3 gene: 
NM_001123391.2  

Unigene Cluster for TBC1D3:

TBC1 domain family, member 3
Hs.735975  [show with all ESTs]
Unigene Representative Sequence: BC047739
9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000518551(uc010wdl.1) ENST00000520599 ENST00000517507(uc002hpq.2)
ENST00000524102(uc010wdm.1) ENST00000354664(uc002hpp.2 uc010cvj.1)
ENST00000519496 ENST00000519532(uc002hox.2) ENST00000537432 ENST00000339023

miRNA
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Inhib. RNA
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Additional mRNA sequence: 

AK302064.1 AK303259.1 AK313329.1 BC047739.1 

13 DOTS entries:

DT.100824474  DT.212833  DT.97858652  DT.100640887  DT.100824478  DT.120994583  DT.95298566  DT.102843582 
DT.120994624  DT.120994639  DT.91767097  DT.92042803  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™, 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

TBC1D3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
TBC1D3 Expression
About this image


See TBC1D3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBC1D3

SOURCE GeneReport for Unigene cluster: Hs.735975

UniProtKB/Swiss-Prot: TBC3A_HUMAN, Q8IZP1
Tissue specificity: Expressed in liver, skeletal muscle, kidney, pancreas, spleen, testis, ovary, small intestine
and peripheral blood leukocytes. Overexpressed in prostate cancers

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In Situ
Assay Products:
 

 
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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.

Orthologs for TBC1D3 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)
30(40210136-40212674)
chicken
(Gallus gallus)
Aves --
--
31(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
19(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 TBC1D3 (if available)
TreeFam Gene Tree for TBC1D3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for TBC1D3 gene
TBC1D3F1 2  TBC1D3G1 2  TBC1D3H1 2  TBC1D3C1 2  TBC1D3B1 2  TBC1D262  ENSG000002487512  GRTP12  
TBC1D10C2  TBC1D10A2  TBC1D10B2  USP6NL2  TBC1D282  
18/22 SIMAP similar genes for TBC1D3 using alignment to 13 protein entries:     TBC3A_HUMAN (see all proteins) (see all similar genes):
NPEPPSL1    TBC1D3F    TBC1D3H    TBC1D3B    NPEPPS    TBC1D3G
TBC1D3C    USP6-short    TRE17    tre    USP6    CDH11/USP6 fusion oncogene
LOC440419    ENPEP    TBC1D26    TBC1D28    ANPEP    TRHDE

TBC1D3 for paralogs           About GeneDecksing


5/18 Pseudogenes.org Pseudogenes for TBC1D3 (see all 18)
PGOHUM00000256803 PGOHUM00000256804 PGOHUM00000256806 PGOHUM00000256807 PGOHUM00000256808


(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

2 SNPs in TBC1D3 are shown    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0630884
----see VAR_0630882 P Q mis40--------
rs712701261,2
C,F--36350582(-) TAATCC/TGAGCA 1 -- us2k12Minor allele frequency- T:0.50NA 4

HapMap Linkage Disequilibrium report for TBC1D3 (36337528 - 36358166 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for TBC1D3:    About this table     
Variant IDTypeSubtypePubMed ID
nsv471398CNV Duplication19718026
nsv820624CNV Duplication20802225
nsv908172CNV Loss21882294
nsv833435CNV Gain+Loss17160897
dgv957e1CNV Complex17122850

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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: 607741    OMIM disorders: --

2 diseases for TBC1D3:    About MalaCards
prostate cancer    prostatitis


TBC1D3 for disorders           About GeneDecksing


Export disorders for TBC1D3 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 TBC1D3 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with TBC1D3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The Tre2 (USP6) oncogene is a hominoid-specific gene. (PubMed id 12604796)1, 2, 3 Paulding C.A.... Haber D.A. (2003)
  2. PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. (PubMed id 12359748)1, 2, 3 Pei L.... Li J. (2002)
  3. 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)
  4. 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)
  5. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
  6. Human TRE17 oncogene is generated from a family of homologous polymorphic sequences by single-base changes. (PubMed id 8471161)1, 2 Onno M.... Hill M. (1993)
  7. Identification of novel sequences in the repertoire of hypervariable TRE17 genes from immortalized nonmalignant and malignant human keratinocytes. (PubMed id 8406013)1, 2 Onno M.... Hill M. (1993)
  8. Ubiquitination and degradation of the hominoid-specifi c oncoprotein TBC1D3 is regulated by protein palmitoylation. (PubMed id 23578663)1 Kong C....Stahl P.D. (2013)
  9. GWAS meta-analysis and replication identifies three ne w susceptibility loci for ovarian cancer. (PubMed id 23535730)1 Pharoah P.D....Sellers T.A. (2013)
  10. Ubiquitination and degradation of the hominoid-specifi c oncoprotein TBC1D3 is mediated by CUL7 E3 ligase. (PubMed id 23029530)1 Kong C....Stahl P.D. (2012)

(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: 729873 HGNC: 19031 Ensembl:ENSG00000197681 euGenes: HUgn729873 ECgene: TBC1D3
H-InvDB: TBC1D3

(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 TBC1D3 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TBC1D3 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for TBC1D3 gene:
Search GeneIP for patents involving TBC1D3

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)
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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(GIFtS: 73)
transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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