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TBC1D3E Gene(Protein Coding)

TBC1 Domain Family Member 3E

GCID:
GC17P038120
GIFtS:
16
Genes Participants
UDN Logo

Aliases for TBC1D3E Gene

Aliases for TBC1D3E Gene

  • TBC1 Domain Family Member 3E 2 3 3 5
  • TBC1 Domain Family Member-Like 3
  • TBC1 Domain Family, Member 3E 2
  • TBC1DE3 3

External Ids for TBC1D3E Gene

Previous GeneCards Identifiers for TBC1D3E Gene

  • GC17P033361
  • GC17U900823
  • GC17M033415
  • GC00U924373
  • GC17P038005

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 TBC1D3D.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for TBC1D3E Gene

Genomics for TBC1D3E Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for TBC1D3E Gene


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

Genomic Locations for TBC1D3E Gene

Genomic Locations for TBC1D3E Gene
chr17:38,119,293-38,138,868
(GRCh38/hg38)
Size:
19,576 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 Structure • Gene Density

RefSeq DNA sequence for TBC1D3E Gene

Proteins for TBC1D3E Gene

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  1. Antibody
  2. Protein
  3. Assay

  • 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

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for TBC1D3E Gene

Function for TBC1D3E Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 --
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D3E: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBC1D3E 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 --
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

SuperPathways for TBC1D3E Gene

PathCards logo More details on SuperPathways for TBC1D3E
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 --
GO:0031338 regulation of vesicle fusion IBA --
GO:0090630 activation of GTPase activity IBA --
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

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  1. Drug
No Compound Related Data Available

Transcripts for TBC1D3E Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TBC1D3E Gene

(2) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for TBC1D3E Gene

GeneLoc Exon Structure for
TBC1D3E
ECgene alternative splicing isoforms for
TBC1D3E

Expression for TBC1D3E Gene

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  1. Primer
  2. Gene Expression Assay

NURSA nuclear receptor signaling pathways regulating expression of TBC1D3E Gene:

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

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for TBC1D3E Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1017080153 -- 38,126,207(+) T/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1025842361 -- 38,128,100(+) A/G intron_variant
rs10574123 -- 38,117,920(+) TAATTAA/TAA upstream_transcript_variant
rs111549784 -- 38,124,224(+) T/A genic_upstream_transcript_variant, intron_variant
rs111638343 -- 38,123,005(+) A/G genic_upstream_transcript_variant, intron_variant

Additional Variant Information for TBC1D3E Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for TBC1D3E Gene

Disorders for TBC1D3E Gene

Additional Disease Information for TBC1D3E

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 58
  2. Diversity of human copy number variation and multicopy genes. (PMID: 21030649) Sudmant PH … Eichler EE (Science (New York, N.Y.) 2010) 3 4 58
  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 58
  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

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