Aliases for TBC1D3E Gene

Aliases for TBC1D3E Gene

  • TBC1 Domain Family Member 3E 2 3 4 5
  • Rab GTPase-Activating Protein PRC17 3
  • Prostate Cancer Gene 17 Protein 3
  • TBC1 Domain Family Member-Like 3
  • TBC1 Domain Family, Member 3E 2
  • TBC1 Domain Family Member 3 3
  • Protein TRE17-Alpha 3
  • TBC1D3A 3
  • TBC1DE3 3
  • TBC1D3E 5
  • TBC1D3 3
  • PRC17 3

External Ids for TBC1D3E Gene

Previous GeneCards Identifiers for TBC1D3E Gene

  • GC17P033361
  • GC17U900823
  • GC17M033415
  • GC00U924373
  • GC17P038005
  • GC17P038120
  • GC17P038227
  • GC17P038308

Summaries for TBC1D3E Gene

GeneCards Summary for TBC1D3E Gene

TBC1D3E (TBC1 Domain Family Member 3E) is a Protein Coding gene. An important paralog of this gene is TBC1D3I.

UniProtKB/Swiss-Prot Summary for TBC1D3E Gene

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

Additional gene information for TBC1D3E Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D3E Gene

Genomics for TBC1D3E Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBC1D3E Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J038099 Enhancer 0.2 Ensembl 0.4 -18.8 -18808 0.4 ENSG00000275006 TBC1D3E LOC101929950 ENSG00000274615 TBC1D3C
GH17J038089 Enhancer 0.2 Ensembl 0.3 -29.3 -29307 0.2 ENSG00000275006 piR-57461-086 LOC101929950 ENSG00000274615 TBC1D3C TBC1D3E
GH17J038091 Enhancer 0.2 Ensembl 0.3 -25.3 -25307 0.6 ENSG00000275006 LOC101929950 ENSG00000274615 TBC1D3C TBC1D3E
GH17J038086 Enhancer 0.2 Ensembl 0.3 -32.7 -32707 0.2 ENSG00000275006 ENSG00000274615 LOC101929950 piR-57461-086 TBC1D3C TBC1D3E
GH17J038087 Enhancer 0.2 Ensembl 0.3 -30.5 -30508 1.8 ENSG00000275006 ENSG00000274615 LOC101929950 piR-57461-086 TBC1D3C TBC1D3E
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D3E on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D3E

Top Transcription factor binding sites by QIAGEN in the TBC1D3E gene promoter:
  • HTF
  • Lmo2
  • NF-1
  • NF-1/L

Genomic Locations for TBC1D3E Gene

Latest Assembly
chr17:38,118,408-38,138,868
(GRCh38/hg38)
Size:
20,461 bases
Orientation:
Plus strand

Genomic View for TBC1D3E Gene

Genes around TBC1D3E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D3E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D3E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D3E Gene

Proteins for TBC1D3E Gene

  • Protein details for TBC1D3E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0A087X179-TBC3E_HUMAN
    Recommended name:
    TBC1 domain family member 3E
    Protein Accession:
    A0A087X179

    Protein attributes for TBC1D3E Gene

    Size:
    549 amino acids
    Molecular mass:
    62131 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.

neXtProt entry for TBC1D3E Gene

Post-translational modifications for TBC1D3E Gene

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

Other Protein References for TBC1D3E Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D3E Gene

Domains & Families for TBC1D3E Gene

Gene Families for TBC1D3E Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TBC1D3E Gene

genes like me logo Genes that share domains with TBC1D3E: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TBC1D3E Gene

Function for TBC1D3E Gene

Molecular function for TBC1D3E Gene

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

Gene Ontology (GO) - Molecular Function for TBC1D3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0031267 small GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D3E: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TBC1D3E Gene

Localization for TBC1D3E Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D3E Gene

Cell membrane. Lipid-anchor. Note=Associated with lipid rafts. {ECO:0000250 UniProtKB:Q8IZP1}.

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBC1D3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TBC1D3E: view

No data available for Subcellular locations from COMPARTMENTS for TBC1D3E Gene

Pathways & Interactions for TBC1D3E Gene

PathCards logo

SuperPathways for TBC1D3E Gene

No Data Available

Interacting Proteins for TBC1D3E Gene

Gene Ontology (GO) - Biological Process for TBC1D3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0090630 activation of GTPase activity IBA 21873635
genes like me logo Genes that share ontologies with TBC1D3E: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D3E Gene

Drugs & Compounds for TBC1D3E Gene

No Compound Related Data Available

Transcripts for TBC1D3E Gene

mRNA/cDNA for TBC1D3E Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D3E

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D3E Gene

No ASD Table

Relevant External Links for TBC1D3E Gene

GeneLoc Exon Structure for
TBC1D3E

Expression for TBC1D3E Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D3E

mRNA Expression by UniProt/SwissProt for TBC1D3E Gene:

A0A087X179-TBC3E_HUMAN
Tissue specificity: Expressed in pancreas, thymus and testis.

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D3E Gene

Orthologs for TBC1D3E Gene

Evolution for TBC1D3E Gene

ENSEMBL:
Gene Tree for TBC1D3E (if available)
TreeFam:
Gene Tree for TBC1D3E (if available)

No data available for Orthologs for TBC1D3E Gene

Paralogs for TBC1D3E Gene

Variants for TBC1D3E Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TBC1D3E Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TBC1D3E Gene

Variant ID Type Subtype PubMed ID
dgv1463n106 CNV duplication 24896259
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
esv3383710 CNV duplication 20981092
esv3572853 CNV gain 25503493
esv3573020 CNV gain 25503493
esv3582628 CNV loss 25503493
esv3582629 CNV loss 25503493
nsv1078415 CNV duplication 25765185
nsv1153123 CNV duplication 26484159
nsv428341 CNV gain+loss 18775914
nsv471507 CNV gain 19718026
nsv820624 CNV duplication 20802225
nsv833435 CNV gain+loss 17160897
nsv953891 CNV duplication 24416366

Additional Variant Information for TBC1D3E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D3E

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for TBC1D3E Gene

Disorders for TBC1D3E Gene

Additional Disease Information for TBC1D3E

No disorders were found for TBC1D3E Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D3E Gene

Publications for TBC1D3E Gene

  1. 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 4
  2. Diversity of human copy number variation and multicopy genes. (PMID: 21030649) Sudmant PH … Eichler EE (Science (New York, N.Y.) 2010) 3 4
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for TBC1D3E Gene

Sources for TBC1D3E Gene