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Aliases for TBC1D3 Gene

Aliases for TBC1D3 Gene

  • TBC1 Domain Family Member 3 2 3 5
  • Rab GTPase-Activating Protein PRC17 3 4
  • Prostate Cancer Gene 17 Protein 3 4
  • Protein TRE17-Alpha 3 4
  • TBC1D3A 3 4
  • PRC17 3 4
  • TBC1 Domain Family, Member 3F 3
  • TBC1 Domain Family, Member 3 2
  • Prostate Cancer Gene 17 2
  • TBC1D3F 3

External Ids for TBC1D3 Gene

Previous GeneCards Identifiers for TBC1D3 Gene

  • GC17P036015
  • GC17M036712
  • GC17P033358
  • GC17M033413
  • GC17M033592
  • GC17M033594
  • GC17M036338

Summaries for TBC1D3 Gene

GeneCards Summary for TBC1D3 Gene

TBC1D3 (TBC1 Domain Family Member 3) is a Protein Coding gene. Diseases associated with TBC1D3 include Prostate Cancer. Among its related pathways are Vesicle-mediated transport and TBC/RABGAPs. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D3C.

UniProtKB/Swiss-Prot for TBC1D3 Gene

  • Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11.

Additional gene information for TBC1D3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D3 Gene

Genomics for TBC1D3 Gene

GeneHancer (GH) Regulatory Elements for TBC1D3 Gene

Promoters and enhancers for TBC1D3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I038255 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9 -64.1 -64146 2.6 PKNOX1 SIN3A ZNF766 GLIS2 ZNF213 ZNF143 KLF7 SP3 GMEB1 SMARCA4 LOC440434 TBC1D3 MRPL45 GC17M038232 ENSG00000274284
GH17I038296 Promoter/Enhancer 1.5 Ensembl ENCODE 8.9 -104.6 -104623 1.6 HDGF CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 MRPL45 LOC105371760 TBC1D3 GC17P038300 PIR49079
GH17I038276 Enhancer 1.2 Ensembl ENCODE dbSUPER 9.3 -84.7 -84685 1.6 HDAC1 MEIS2 KLF1 PKNOX1 ZSCAN4 MZF1 FEZF1 ZNF335 ZFHX2 CTBP1 TBC1D3 GC17M038268 LOC105371760
GH17I039174 Enhancer 1.1 Ensembl ENCODE dbSUPER 6.3 -982.3 -982339 1.6 CTCF RB1 KLF17 ZNF48 RAD21 HIC1 ZNF766 POLR2A ZBTB48 ZNF157 LOC105371768 CACNB1 RPL19 PSMB3 TBC1D3 ARL5C
GH17I038876 Enhancer 1.4 Ensembl ENCODE dbSUPER 4.8 -689.6 -689594 11.1 SMAD1 ARNT ZFP64 ARID4B FEZF1 GLI4 YY1 ETS1 GLIS2 RUNX3 SNORA21 MED1 RPL23 RPS20P35 SNORA21B C17orf98 CWC25 PSMB3 LASP1 PCGF2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBC1D3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBC1D3 gene promoter:

Genomic Locations for TBC1D3 Gene

Genomic Locations for TBC1D3 Gene
11,080 bases
Minus strand

Genomic View for TBC1D3 Gene

Genes around TBC1D3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D3 Gene

Proteins for TBC1D3 Gene

  • Protein details for TBC1D3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    TBC1 domain family member 3
    Protein Accession:
    Secondary Accessions:
    • A6NGX2
    • A8K007
    • Q6DCB4
    • Q9H0B9
    • Q9UDD4

    Protein attributes for TBC1D3 Gene

    549 amino acids
    Molecular mass:
    62187 Da
    Quaternary structure:
    No Data Available
    • 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.

    Alternative splice isoforms for TBC1D3 Gene


neXtProt entry for TBC1D3 Gene

Post-translational modifications for TBC1D3 Gene

  • Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.
  • Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation.

Other Protein References for TBC1D3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D3 Gene

Domains & Families for TBC1D3 Gene

Gene Families for TBC1D3 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TBC1D3 Gene

Suggested Antigen Peptide Sequences for TBC1D3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TBC1D3: view

No data available for UniProtKB/Swiss-Prot for TBC1D3 Gene

Function for TBC1D3 Gene

Molecular function for TBC1D3 Gene

UniProtKB/Swiss-Prot Function:
Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11.

Phenotypes From GWAS Catalog for TBC1D3 Gene

Gene Ontology (GO) - Molecular Function for TBC1D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TBC1D3 Gene

Localization for TBC1D3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D3 Gene

Cell membrane; Lipid-anchor. Note=Associated with lipid rafts.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D3 gene
Compartment Confidence
endosome 4
plasma membrane 3
nucleus 2
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBC1D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005886 plasma membrane IEA --
GO:0012505 endomembrane system IBA --
GO:0016020 membrane IEA --
GO:0031901 early endosome membrane TAS --
genes like me logo Genes that share ontologies with TBC1D3: view

Pathways & Interactions for TBC1D3 Gene

genes like me logo Genes that share pathways with TBC1D3: view

Pathways by source for TBC1D3 Gene

3 Reactome pathways for TBC1D3 Gene

Interacting Proteins for TBC1D3 Gene

Selected Interacting proteins: Q8IZP1-TBC3A_HUMAN for TBC1D3 Gene via IID

Gene Ontology (GO) - Biological Process for TBC1D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0090630 activation of GTPase activity IBA --
GO:1902017 NOT regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D3: view

No data available for SIGNOR curated interactions for TBC1D3 Gene

Drugs & Compounds for TBC1D3 Gene

No Compound Related Data Available

Transcripts for TBC1D3 Gene

mRNA/cDNA for TBC1D3 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TBC1D3 Gene

TBC1 domain family, member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D3 Gene

No ASD Table

Relevant External Links for TBC1D3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TBC1D3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBC1D3 Gene

Protein differential expression in normal tissues from HIPED for TBC1D3 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TBC1D3 Gene

Protein tissue co-expression partners for TBC1D3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBC1D3 Gene:


SOURCE GeneReport for Unigene cluster for TBC1D3 Gene:


mRNA Expression by UniProt/SwissProt for TBC1D3 Gene:

Tissue specificity: Expressed in liver, skeletal muscle, kidney, pancreas, spleen, testis, ovary, small intestine and peripheral blood leukocytes. Overexpressed in prostate cancers.

Evidence on tissue expression from TISSUES for TBC1D3 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with TBC1D3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D3 Gene

Orthologs for TBC1D3 Gene

Evolution for TBC1D3 Gene

Gene Tree for TBC1D3 (if available)
Gene Tree for TBC1D3 (if available)

No data available for Orthologs for TBC1D3 Gene

Paralogs for TBC1D3 Gene

Variants for TBC1D3 Gene

Sequence variations from dbSNP and Humsavar for TBC1D3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000628244 -- 38,193,594(-) G/A upstream_transcript_variant
rs1041404958 -- 38,190,467(-) G/T intron_variant
rs111923767 -- 38,193,528(-) C/T upstream_transcript_variant
rs151339073 -- 38,194,504(-) G/C upstream_transcript_variant
rs17143960 -- 38,194,049(-) T/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D3 Gene

Variant ID Type Subtype PubMed ID
nsv960598 CNV duplication 23825009
nsv953891 CNV duplication 24416366
nsv953890 CNV duplication 24416366
nsv833435 CNV gain+loss 17160897
nsv833432 CNV gain+loss 17160897
nsv820624 CNV duplication 20802225
nsv471507 CNV gain 19718026
nsv471398 CNV gain 19718026
nsv428341 CNV gain+loss 18775914
nsv1153123 CNV duplication 26484159
nsv1141305 CNV duplication 24896259
nsv1128762 CNV duplication 24896259
nsv1078415 CNV duplication 25765185
nsv1078413 CNV duplication 25765185
nsv1070402 CNV deletion 25765185
esv3582629 CNV loss 25503493
esv3582628 CNV loss 25503493
esv3573020 CNV gain 25503493
esv3572853 CNV gain 25503493
esv3383710 CNV duplication 20981092
esv3334247 CNV duplication 20981092
esv28567 CNV gain+loss 19812545
esv2758688 CNV gain+loss 17122850
dgv916e212 CNV loss 25503493
dgv915e212 CNV gain 25503493
dgv914e212 CNV gain 25503493
dgv913e212 CNV loss 25503493
dgv912e212 CNV loss 25503493
dgv911e212 CNV gain 25503493
dgv1755e59 CNV duplication 20981092
dgv1754e59 CNV duplication 20981092
dgv1463n106 CNV duplication 24896259

Variation tolerance for TBC1D3 Gene

Gene Damage Index Score: 0.01; 0.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBC1D3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D3 Gene

Disorders for TBC1D3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBC1D3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
prostate cancer
  • prostate cancer, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TBC1D3

genes like me logo Genes that share disorders with TBC1D3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBC1D3 Gene

Publications for TBC1D3 Gene

  1. The Tre2 (USP6) oncogene is a hominoid-specific gene. (PMID: 12604796) Paulding CA … Haber DA (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 4 58
  2. PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. (PMID: 12359748) Pei L … Li J (Cancer research 2002) 2 3 4 58
  3. Ubiquitination and degradation of the hominoid-specific oncoprotein TBC1D3 is regulated by protein palmitoylation. (PMID: 23578663) Kong C … Stahl PD (Biochemical and biophysical research communications 2013) 3 4 58
  4. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. (PMID: 16863688) Hodzic D … Stahl PD (Genomics 2006) 2 3 58
  5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4 58

Products for TBC1D3 Gene

Sources for TBC1D3 Gene

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