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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. Among its related pathways are Vesicle-mediated transport and TBC/RABGAPs. 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.

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

Regulatory Elements for TBC1D3 Gene

Enhancers for TBC1D3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G038255 1.6 FANTOM5 ENCODE dbSUPER 9 -64.2 -64153 2.5 PKNOX1 ZFP64 SIN3A ZNF766 GLIS2 ZNF143 KLF7 ZNF263 SP3 ZNF623 ENSG00000277501 LOC100287808 TBC1D3 MRPL45 LOC440434 ENSG00000274284 GC17M038232
GH17G038276 1.3 Ensembl ENCODE dbSUPER 9.3 -84.7 -84685 1.6 HDAC1 PKNOX1 KLF1 ZSCAN4 FEZF1 ZFHX2 ZNF366 PRDM10 KLF7 TCF7L2 TBC1D3 GC17M038268 LOC105371760
GH17G038297 1 ENCODE 8.9 -104.6 -104623 1.6 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TBC1D3 MRPL45 PIR49079 GC17P038300
GH17G039174 1.3 Ensembl ENCODE dbSUPER 6.3 -982.3 -982339 1.6 RB1 ZFP64 KLF17 ZNF48 RAD21 ZNF766 ZNF143 CREM ZNF680 ZNF654 MED1 CACNB1 RPL19 ENSG00000266469 LOC100287808 CDK12 PSMB3 TBC1D3 ARL5C LOC105371768
GH17G038876 1.5 Ensembl ENCODE dbSUPER 4.8 -689.6 -689594 11.1 PKNOX1 ARNT ZFP64 SIN3A ARID4B FEZF1 YY1 SP5 MXD4 NFYC ENSG00000275532 LOC100287808 SNORA21 RPS20P35 RPL23 ENSG00000252699 C17orf98 CWC25 PSMB3 MED1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBC1D3 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D3 Gene

Chromosome:
17
Start:
38,181,476 bp from pter
End:
38,192,555 bp from pter
Size:
11,080 bases
Orientation:
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:
    Q8IZP1-TBC3A_HUMAN
    Recommended name:
    TBC1 domain family member 3
    Protein Accession:
    Q8IZP1
    Secondary Accessions:
    • A6NGX2
    • A8K007
    • Q6DCB4
    • Q9H0B9
    • Q9UDD4

    Protein attributes for TBC1D3 Gene

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

    UniProtKB/Swiss-Prot:

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains for TBC1D3 Gene

InterPro:
Blocks:
ProtoNet:

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 Gene Families and 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.

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

COMPARTMENTS
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

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:0061024 membrane organization TAS --
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
TBC1D3
ECgene alternative splicing isoforms for
TBC1D3

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:

TBC1D3

SOURCE GeneReport for Unigene cluster for TBC1D3 Gene:

Hs.735975

mRNA Expression by UniProt/SwissProt for TBC1D3 Gene:

Q8IZP1-TBC3A_HUMAN
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

ENSEMBL:
Gene Tree for TBC1D3 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1000628244 -- 38,193,594(+) CTACG(A/G)GAGGA upstream-variant-2KB
rs1041404958 -- 38,190,467(+) GCTGA(G/T)CGCCC intron-variant
rs111923767 -- 38,193,528(+) CACGA(C/T)CATTT upstream-variant-2KB
rs143617549 -- 38,185,470(+) GGGCC(A/G)GGGAA intron-variant
rs17143960 -- 38,194,049(+) GGCTG(G/T)GGCTG upstream-variant-2KB

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

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

Variation tolerance for TBC1D3 Gene

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

Relevant External Links for TBC1D3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D3

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

Disorders for TBC1D3 Gene

Relevant External Links for TBC1D3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D3

No disorders were found for TBC1D3 Gene.

No data available for MalaCards , 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 C.A. … Haber D.A. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 4 64
  2. PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. (PMID: 12359748) Pei L. … Li J. (Cancer Res. 2002) 2 3 4 64
  3. Ubiquitination and degradation of the hominoid-specific oncoprotein TBC1D3 is regulated by protein palmitoylation. (PMID: 23578663) Kong C. … Stahl P.D. (Biochem. Biophys. Res. Commun. 2013) 3 4 64
  4. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. (PMID: 16863688) Hodzic D. … Stahl P.D. (Genomics 2006) 2 3 64
  5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 3 4 64

Products for TBC1D3 Gene

Sources for TBC1D3 Gene

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