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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 TBC1D10C.

UniProtKB/Swiss-Prot for TBC1D3G Gene

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

No data available for Entrez Gene 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

Enhancers for TBC1D3G Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TBC1D3G on UCSC Golden Path with GeneCards custom track

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

Proteomics data for TBC1D3G Gene at MOPED

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

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

Q6DHY5

UniProtKB/Swiss-Prot:

TBC3G_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D3G: view

No data available for Gene Families 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).

Animal Model Products

miRNA for TBC1D3G Gene

miRTarBase miRNAs that target TBC1D3G

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , 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
Jensen Localization Image for TBC1D3G Gene COMPARTMENTS Subcellular localization image for TBC1D3G gene
Compartment Confidence
plasma membrane 3
cytosol 2
nucleus 2
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for TBC1D3G Gene

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

None

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

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

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 for TBC1D3G Gene

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

This gene is overexpressed in Testis (x14.0).
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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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

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

Variants for TBC1D3G Gene

Sequence variations from dbSNP and Humsavar for TBC1D3G Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs4503844 -- 36,321,976(+) gccaa(A/T)acctc upstream-variant-2KB
rs8071968 -- 36,321,982(-) agaga(C/T)gaggt upstream-variant-2KB
rs71270126 -- 36,321,901(+) TAATC(C/T)GAGCA upstream-variant-2KB
rs62074763 -- 36,322,007(-) CCCAG(C/G)TAATT upstream-variant-2KB
rs151339073 -- 36,321,923(-) CACCT(C/G)CCCCA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TBC1D3G Gene

Variant ID Type Subtype PubMed ID
nsv428340 CNV Gain 18775914
dgv946e1 CNV Complex 17122850
dgv948e1 CNV Complex 17122850
nsv9540 CNV Gain+Loss 18304495
dgv3145n71 CNV Gain 21882294
dgv122e55 CNV Gain 17911159
esv2751645 CNV Gain 17911159
esv29998 CNV Loss 17803354
nsv526727 CNV Gain 19592680
nsv469796 CNV Gain 16826518
nsv471697 CNV Gain 15918152
essv6619 CNV CNV 17122850
esv27635 CNV Gain+Loss 19812545
nsv471328 CNV Duplication 19718026
nsv469738 CNV Complex 16826518
nsv469853 CNV Complex 16826518
nsv509654 CNV Insertion 20534489

Variation tolerance for TBC1D3G Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 P.H. … Eichler E.E. (Science 2010) 3 4 67
  2. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. (PMID: 16863688) Hodzic D. … Stahl P.D. (Genomics 2006) 2 3
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3

Products for TBC1D3G Gene

Sources for TBC1D3G Gene

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