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Aliases for TBC1D3G Gene

Aliases for TBC1D3G Gene

  • TBC1 Domain Family, Member 3G 2
  • TBC1 Domain Family Member-Like 3
  • LOC101060321 3

External Ids for TBC1D3G Gene

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 TBC1D3H.

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

Genomic Location for TBC1D3G Gene

Start:
36,320,008 bp from pter
End:
36,334,759 bp from pter
Size:
14,752 bases
Orientation:
Plus strand

Genomic View for TBC1D3G Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBC1D3G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D3G Gene

Regulatory Elements 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.

Other Protein References for TBC1D3G Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D3G Gene

Domains for TBC1D3G Gene

Protein Domains for TBC1D3G Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

TBC3G_HUMAN
Domain:
  • Contains 1 Rab-GAP TBC domain.:
    • Q6DHY5
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).

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
cytosol 2
nucleus 2
cytoskeleton 1
endosome 1

Gene Ontology (GO) - Cellular Components for TBC1D3G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane --
genes like me logo Genes that share ontologies with TBC1D3G: view

Pathways 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 for TBC1D3G Gene

Transcripts for TBC1D3G Gene

mRNA/cDNA for TBC1D3G Gene

(3) REFSEQ mRNAs :
(2) 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 (14.0).
genes like me logo Genes that share expressions with TBC1D3G: view

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

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 MAF
rs62074494 -- 36,322,074(-) CTCTG(C/T)CTCCC upstream-variant-2KB, intron-variant
rs141275231 -- 36,322,275(-) CACCT(C/T)AGGGA upstream-variant-2KB, intron-variant
rs148585652 -- 36,322,201(-) AAAGG(-/A)AACAG upstream-variant-2KB, intron-variant
rs199492281 -- 36,335,030(-) CACAC(A/G)CCACC intron-variant, downstream-variant-500B
rs199492282 -- 36,325,858(-) GTTCT(A/G)TCCCT intron-variant

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

Relevant External Links for TBC1D3G Gene

HapMap Linkage Disequilibrium report
TBC1D3G

Disorders for TBC1D3G Gene

Relevant External Links for TBC1D3G

Genetic Association Database (GAD)
TBC1D3G
genes like me logo Genes that share disorders with TBC1D3G: view

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

Publications for TBC1D3G Gene

  1. 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
  2. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D. … Ferrucci L. (PLoS Genet. 2008) 49
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4
  4. 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) 4
  5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 4

Products for TBC1D3G Gene

Sources for TBC1D3G Gene

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