TBC1D3L Gene (Protein Coding)

TBC1 Domain Family Member 3L

GC17M038099
GIFtS:
15
See more...

Aliases for TBC1D3L Gene

Aliases for TBC1D3L Gene

  • TBC1 Domain Family Member 3L 2 3 4 5
  • TBC1 Domain Family, Member 3L 2
  • TBC1D3L 5

External Ids for TBC1D3L Gene

Previous GeneCards Identifiers for TBC1D3L Gene

  • GC17M037980

Summaries for TBC1D3L Gene

GeneCards Summary for TBC1D3L Gene

TBC1D3L (TBC1 Domain Family Member 3L) is a Protein Coding gene. An important paralog of this gene is TBC1D3I.

UniProtKB/Swiss-Prot Summary for TBC1D3L Gene

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

Additional gene information for TBC1D3L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D3L Gene

Genomics for TBC1D3L Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TBC1D3L 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
GH17J037989 Promoter 0.4 EPDnew 250.7 0.0 -20 0.1 MNT HSALNG0116143 TBC1D3L piR-47962-007 TBC1D3D
GH17J037986 Enhancer 0.2 Ensembl 0.7 +3.0 2959 0.2 piR-30543-011 piR-30634-011 piR-33300-010 piR-43797-010 piR-35529-007 piR-35666-011 piR-39072-009 piR-55018-009 TBC1D3L TBC1D3K
GH17J037965 Enhancer 0.3 Ensembl 0.3 +24.1 24059 0.4 PRDM10 LOC102723608 piR-48541-002 TBC1D3L TBC1D3K
GH17J037939 Enhancer 0.3 Ensembl 0.3 +41.5 41459 0.4 ZBTB40 EGR1 ENSG00000277488 LOC102723608 HSALNG0116142 TBC1D3K TBC1D3L
GH17J037924 Promoter 0.3 EPDnew 0.2 +64.6 64619 0.1 HSALNG0116141 TBC1D3K piR-47962-006 TBC1D3L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D3L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D3L

Genomic Locations for TBC1D3L Gene

Latest Assembly
chr17:37,977,972-37,989,060
(GRCh38/hg38)
Size:
11,089 bases
Orientation:
Minus strand

Previous Assembly
chr17:36,284,005-36,294,915
(GRCh37/hg19 by Entrez Gene)
Size:
10,911 bases
Orientation:
Plus strand

Genomic View for TBC1D3L Gene

Genes around TBC1D3L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D3L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D3L Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TBC1D3L Gene

Proteins for TBC1D3L Gene

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  • Protein details for TBC1D3L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B9A6J9-TBC3L_HUMAN
    Recommended name:
    TBC1 domain family member 3L
    Protein Accession:
    B9A6J9

    Protein attributes for TBC1D3L 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.

neXtProt entry for TBC1D3L Gene

Post-translational modifications for TBC1D3L 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 TBC1D3L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D3L Gene

Domains & Families for TBC1D3L Gene

Gene Families for TBC1D3L Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TBC1D3L Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with TBC1D3L: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TBC1D3L Gene

Function for TBC1D3L Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for TBC1D3L 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 TBC1D3L 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 TBC1D3L: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D3L

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 TBC1D3L Gene

Localization for TBC1D3L Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D3L Gene

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

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 TBC1D3L gene
Compartment Confidence
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBC1D3L 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 TBC1D3L: view

Pathways & Interactions for TBC1D3L Gene

PathCards logo

SuperPathways for TBC1D3L Gene

No Data Available

Interacting Proteins for TBC1D3L Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000481508 for TBC1D3L Gene via STRING

GPS-Prot Interaction Network for TBC1D3L

Gene Ontology (GO) - Biological Process for TBC1D3L 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 TBC1D3L: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D3L Gene

Drugs & Compounds for TBC1D3L Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for TBC1D3L Gene

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mRNA/cDNA for TBC1D3L Gene

4 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 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 TBC1D3L

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D3L Gene

No ASD Table

Relevant External Links for TBC1D3L Gene

GeneLoc Exon Structure for
TBC1D3L

Expression for TBC1D3L Gene

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Evidence on tissue expression from TISSUES for TBC1D3L Gene

  • Nervous system(4)
No Expression Related Data Available

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D3L Gene

Orthologs for TBC1D3L Gene

Evolution for TBC1D3L Gene

ENSEMBL:
Gene Tree for TBC1D3L (if available)
TreeFam:
Gene Tree for TBC1D3L (if available)

No data available for Orthologs for TBC1D3L Gene

Paralogs for TBC1D3L Gene

Variants for TBC1D3L Gene

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  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TBC1D3L 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 TBC1D3L Gene

Variant ID Type Subtype PubMed ID
dgv1458n106 CNV duplication 24896259
dgv1463n106 CNV duplication 24896259
dgv3144n100 CNV gain 25217958
dgv3145n100 CNV gain 25217958
dgv3146n100 CNV gain 25217958
dgv3147n100 CNV gain 25217958
dgv5536n54 CNV gain 21841781
dgv5538n54 CNV gain 21841781
dgv911e212 CNV gain 25503493
dgv912e212 CNV loss 25503493
dgv913e212 CNV loss 25503493
dgv914e212 CNV gain 25503493
dgv915e212 CNV gain 25503493
dgv916e212 CNV loss 25503493
esv2664544 CNV deletion 23128226
esv2715876 CNV deletion 23290073
esv2758688 CNV gain+loss 17122850
esv2760467 CNV gain 21179565
esv2762388 CNV gain+loss 21179565
esv28567 CNV gain+loss 19812545
esv33107 CNV loss 17666407
esv3359327 CNV duplication 20981092
esv3373428 CNV duplication 20981092
esv3373836 CNV duplication 20981092
esv3572853 CNV gain 25503493
esv3573020 CNV gain 25503493
esv3582628 CNV loss 25503493
esv3582629 CNV loss 25503493
esv3893000 CNV gain+loss 25118596
esv3893001 CNV gain 25118596
esv3893005 CNV loss 25118596
nsv1061066 CNV loss 25217958
nsv1061448 CNV gain+loss 25217958
nsv1066186 CNV gain 25217958
nsv1075934 CNV duplication 25765185
nsv1077841 CNV duplication 25765185
nsv1078415 CNV duplication 25765185
nsv1147889 CNV duplication 26484159
nsv1153123 CNV duplication 26484159
nsv1160469 CNV duplication 26073780
nsv2040 CNV deletion 18451855
nsv428341 CNV gain+loss 18775914
nsv433448 CNV gain 18776910
nsv471507 CNV gain 19718026
nsv514836 CNV gain 21397061
nsv514837 CNV gain 21397061
nsv833432 CNV gain+loss 17160897
nsv953881 CNV duplication 24416366
nsv953890 CNV duplication 24416366
nsv953891 CNV duplication 24416366
nsv960473 CNV duplication 23825009
nsv962316 CNV duplication 23825009

Additional Variant Information for TBC1D3L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D3L

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 TBC1D3L Gene

Disorders for TBC1D3L Gene

Additional Disease Information for TBC1D3L

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for TBC1D3L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D3L Gene

Publications for TBC1D3L Gene

  1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  2. Diversity of human copy number variation and multicopy genes. (PMID: 21030649) Sudmant PH … Eichler EE (Science (New York, N.Y.) 2010) 4
  3. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K … Fukuda M (Genes to cells : devoted to molecular & cellular mechanisms 2009) 4
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4
  5. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. (PMID: 16863688) Hodzic D … Stahl PD (Genomics 2006) 3

ExternalLinks

View latest publications for TBC1D3L gene in Mastermind

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Sources for TBC1D3L Gene