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Aliases for TBC1D3G Gene

Aliases for TBC1D3G Gene

  • TBC1 Domain Family Member 3G 2 3 5
  • TBC1 Domain Family, Member 3G 2

External Ids for TBC1D3G Gene

Previous GeneCards Identifiers for TBC1D3G Gene

  • GC17M031872
  • GC17M034797
  • GC17M034746

Summaries for TBC1D3G Gene

GeneCards Summary for TBC1D3G Gene

TBC1D3G (TBC1 Domain Family Member 3G) is a Protein Coding gene. An important paralog of this gene is TBC1D3L.

UniProtKB/Swiss-Prot for TBC1D3G Gene

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

Additional gene information for TBC1D3G 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 TBC1D3G Gene

Genomics for TBC1D3G Gene

Regulatory Elements for TBC1D3G Gene


Genomic Location for TBC1D3G Gene

Chromosome:
17
Start:
36,322,242 bp from pter
End:
36,334,759 bp from pter
Size:
12,518 bases
Orientation:
Plus strand

Genomic View for TBC1D3G Gene

Genes around TBC1D3G on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D3G Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D3G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D3G Gene

Proteins for TBC1D3G Gene

  • Protein details for TBC1D3G Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6DHY5-TBC3G_HUMAN
    Recommended name:
    TBC1 domain family member 3G
    Protein Accession:
    Q6DHY5
    Secondary Accessions:
    • A8K8H9

    Protein attributes for TBC1D3G Gene

    Size:
    549 amino acids
    Molecular mass:
    62231 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 TBC1D3G Gene

Post-translational modifications for TBC1D3G 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 TBC1D3G Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D3G Gene

Domains & Families for TBC1D3G Gene

Gene Families for TBC1D3G Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TBC1D3G Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D3G Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TBC1D3G: view

No data available for UniProtKB/Swiss-Prot for TBC1D3G Gene

Function for TBC1D3G Gene

Molecular function for TBC1D3G 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 TBC1D3G 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 TBC1D3G: view

Phenotypes for TBC1D3G Gene

GenomeRNAi human phenotypes for TBC1D3G:
genes like me logo Genes that share phenotypes with TBC1D3G: view

Animal Model Products

CRISPR Products

miRNA for TBC1D3G Gene

miRTarBase miRNAs that target TBC1D3G

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TBC1D3G
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D3G Gene

Localization for TBC1D3G Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D3G Gene

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

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 TBC1D3G gene
Compartment Confidence
plasma membrane 3
nucleus 2
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBC1D3G 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 TBC1D3G: view

Pathways & Interactions for TBC1D3G Gene

SuperPathways for TBC1D3G Gene

No Data Available

Interacting Proteins for TBC1D3G Gene

Gene Ontology (GO) - Biological Process for TBC1D3G 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 TBC1D3G: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D3G Gene

Drugs & Compounds for TBC1D3G Gene

No Compound Related Data Available

Transcripts for TBC1D3G Gene

mRNA/cDNA for TBC1D3G Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TBC1D3G
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D3G Gene

No ASD Table

Relevant External Links for TBC1D3G Gene

GeneLoc Exon Structure for
TBC1D3G
ECgene alternative splicing isoforms for
TBC1D3G

Expression for TBC1D3G Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBC1D3G Gene

mRNA differential expression in normal tissues according to GTEx for TBC1D3G Gene

This gene is overexpressed in Testis (x14.0).

NURSA nuclear receptor signaling pathways regulating expression of TBC1D3G Gene:

TBC1D3G

Evidence on tissue expression from TISSUES for TBC1D3G Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with TBC1D3G: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 TBC1D3G Gene

Orthologs for TBC1D3G Gene

Evolution for TBC1D3G Gene

ENSEMBL:
Gene Tree for TBC1D3G (if available)
TreeFam:
Gene Tree for TBC1D3G (if available)

No data available for Orthologs for TBC1D3G Gene

Paralogs for TBC1D3G Gene

Variants for TBC1D3G Gene

Sequence variations from dbSNP and Humsavar for TBC1D3G Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs151339073 -- 36,321,923(-) CACCT(C/G)CCCCA upstream-variant-2KB
rs199493313 -- 36,321,917(-) GTCCA(-/CCTGCCCCAG)CCTCC upstream-variant-2KB
rs3929491 -- 36,323,748(-) TGAGG(C/T)GTCAA upstream-variant-2KB, utr-variant-5-prime
rs4503844 -- 36,321,976(+) gccaa(A/T)acctc upstream-variant-2KB
rs567041 -- 36,330,693(+) TTTAG(A/G)ATGTC intron-variant

Variation tolerance for TBC1D3G Gene

Gene Damage Index Score: 0.11; 2.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D3G Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D3G

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TBC1D3G Gene

Disorders for TBC1D3G Gene

Relevant External Links for TBC1D3G

Genetic Association Database (GAD)
TBC1D3G
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D3G

No disorders were found for TBC1D3G Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D3G Gene

Publications for TBC1D3G Gene

  1. Diversity of human copy number variation and multicopy genes. (PMID: 21030649) Sudmant PH … Eichler EE (Science (New York, N.Y.) 2010) 3 4 60
  2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4 60
  3. 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 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for TBC1D3G Gene

Sources for TBC1D3G Gene

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