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Aliases for TBC1D3E Gene
Aliases for TBC1D3E Gene
External Ids for TBC1D3E Gene
- HGNC: 27071
- Entrez Gene: 102723859
- Ensembl: ENSG00000278599
- OMIM: 610808
- UniProtKB: A0A087X179
Previous GeneCards Identifiers for TBC1D3E Gene
- GC17P033361
- GC17U900823
- GC17M033415
- GC00U924373
- GC17P038005
- GC17P038120
- GC17P038227
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH17J038098 | Enhancer | 0.2 | Ensembl | 0.4 | -19.4 | -19407 | 0.4 | ENSG00000275006 TBC1D3E ENSG00000274615 LOC101929950 TBC1D3C | ||
| GH17J038099 | Enhancer | 0.2 | Ensembl | 0.4 | -18.7 | -18707 | 0.2 | ENSG00000275006 TBC1D3E ENSG00000274615 LOC101929950 TBC1D3C | ||
| GH17J038093 | Enhancer | 0.2 | Ensembl | 0.4 | -24.3 | -24307 | 0.6 | ENSG00000275006 ENSG00000274615 LOC101929950 TBC1D3E TBC1D3C | ||
| GH17J038085 | Enhancer | 0.2 | Ensembl | 0.3 | -34.3 | -34307 | 0.2 | piR-57461-086 ENSG00000274615 ENSG00000275006 LOC101929950 TBC1D3C TBC1D3E | ||
| GH17J038083 | Enhancer | 0.2 | Ensembl | 0.3 | -34.7 | -34707 | 0.2 | piR-57461-086 ENSG00000274615 ENSG00000275006 LOC101929950 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
Genomic Locations for TBC1D3E Gene
- 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:
-
- 17q12 by HGNC
- 17q12 by Entrez Gene
- 17q12 by Ensembl
TBC1D3E Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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.
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:
Antibody Products
- antibodies-online: Show 13 available TBC1D3E Antibodies ranked by validation data
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for TBC1D3E
- Origene Custom Protein Services for TBC1D3E
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
- InterPro:
- ProtoNet:
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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005096 | GTPase activator activity | IBA | 21873635 |
| GO:0017137 | Rab GTPase binding | IBA | 21873635 |
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for TBC1D3E
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBC1D3E
miRNA Products
Inhibitory RNA Products
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D3E
Clone Products
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBC1D3E
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}.
- Vesicles (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from COMPARTMENTS for TBC1D3E Gene
Pathways & Interactions for TBC1D3E Gene
Interacting Proteins for TBC1D3E Gene
GPS-Prot Interaction Network for TBC1D3E
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006886 | intracellular protein transport | IBA | 21873635 |
| GO:0090630 | activation of GTPase activity | IBA | 21873635 |
No data available for Pathways by source and SIGNOR curated interactions for TBC1D3E Gene
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 :
-
- ENST00000621587 2076 nts (view in UCSC)
CRISPR Products
-
OriGene CRISPR knockouts for TBC1D3E
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBC1D3E
miRNA Products
Inhibitory RNA Products
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D3E
Clone Products
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBC1D3E
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.
Primer Products
Gene Expression Assay Products
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
No data available for Orthologs for TBC1D3E Gene
Paralogs for TBC1D3E Gene
Paralogs for TBC1D3E Gene
- TBC1D3I 5
- TBC1D3H 5
- TBC1D3K 5
- TBC1D3L 5
- TBC1D3D 5
- TBC1D3C 5
- TBC1D3 5
- TBC1D3B 5
- TBC1D3G 5
- TBC1D3F 5
- USP6NL 5
- TBC1D9B 5
- TBC1D8B 5
- TBC1D8 5
- TBC1D9 5
- TBC1D26 5
- TBC1D10B 5
- EVI5L 5
- SGSM3 5
- TBC1D10A 5
- EVI5 5
- TBC1D14 5
- TBC1D25 5
- SGSM1 5
- TBC1D5 5
- TBC1D1 5
- RABGAP1 5
- TBC1D16 5
- TBC1D10C 5
- TBC1D15 5
- TBC1D12 5
- TBC1D2 5
- SGSM2 5
- TBC1D4 5
- TBC1D17 5
- TBC1D2B 5
- TBC1D22B 5
- GRTP1 5
- ENSG00000248751 5
- RABGAP1L 5
- TBC1D28 5
- TBC1D22A 5
- TBCK 5
- TBC1D30 5
- ENSG00000288591 5
- TBC1D13 5
- TBC1D21 5
- TBC1D3 30
- TBC1D3C 30
- TBC1D3B 30
- TBC1D3F 30
- LOC101060389 30
- LOC101060376 30
- LOC101060321 30
- LOC101060351 30
- LOC102724862 30
- TBC1D3H 30
Variants 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 Assay Products
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
- 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
- Diversity of human copy number variation and multicopy genes. (PMID: 21030649) Sudmant PH … Eichler EE (Science (New York, N.Y.) 2010) 3 4
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4
- Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
ExternalLinks
Products for TBC1D3E Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for TBC1D3E
- Origene Custom Protein Services for TBC1D3E
- Browse OriGene Inhibitory RNA Products For TBC1D3E
- Browse OriGene qPCR primer pairs and template standards
- OriGene CRISPR knockouts for TBC1D3E
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- VectorBuilder Custom and pre-made DNA vectors for TBC1D3E (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for TBC1D3E (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for TBC1D3E (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for TBC1D3E CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for TBC1D3E
- antibodies-online: Show 13 available TBC1D3E Antibodies ranked by validation data
- antibodies-online: Search results for available TBC1D3E related products ranked by validation data
- antibodies-online: Search results for available TBC1D3E related products ranked by validation data
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBC1D3E
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBC1D3E
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TBC1D3E
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D3E
Sources for TBC1D3E Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
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- (36) Pseudogene
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- (58) Novus Biologicals
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- (60) Sino Biological
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
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- (84) COMPARTMENTS
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- (104) diseasecard
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