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Aliases for TBC1D3C Gene

Aliases for TBC1D3C Gene

  • TBC1 Domain Family Member 3C 2 3 5
  • TBC1D3D 3 4
  • TBC1 Domain Family Member 3C-Like Protein ENSP00000341742 3
  • Rab GTPase-Activating Protein PRC17 3
  • TBC1 Domain Family Member 3C/3D 3
  • TBC1 Domain Family, Member 3C 2

External Ids for TBC1D3C Gene

Previous GeneCards Identifiers for TBC1D3C Gene

  • GC17M031606
  • GC17M034580
  • GC17M037981

Summaries for TBC1D3C Gene

Entrez Gene Summary for TBC1D3C Gene

  • This gene represents one of a cluster of related genes found on chromosome 17. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved in GTPase signaling and vesicle trafficking. [provided by RefSeq, Apr 2014]

GeneCards Summary for TBC1D3C Gene

TBC1D3C (TBC1 Domain Family Member 3C) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D3.

UniProtKB/Swiss-Prot for TBC1D3C Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D3C Gene

Genomics for TBC1D3C Gene

Regulatory Elements for TBC1D3C Gene

Enhancers for TBC1D3C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around TBC1D3C on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D3C Gene

Chromosome:
17
Start:
38,057,693 bp from pter
End:
38,068,634 bp from pter
Size:
10,942 bases
Orientation:
Minus strand

Genomic View for TBC1D3C Gene

Genes around TBC1D3C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D3C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D3C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D3C Gene

Proteins for TBC1D3C Gene

  • Protein details for TBC1D3C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IPX1-TBC3C_HUMAN
    Recommended name:
    TBC1 domain family member 3C
    Protein Accession:
    Q6IPX1

    Protein attributes for TBC1D3C 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 TBC1D3C Gene

Post-translational modifications for TBC1D3C 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 TBC1D3C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D3C Gene

Domains & Families for TBC1D3C Gene

Protein Domains for TBC1D3C Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D3C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6IPX1

UniProtKB/Swiss-Prot:

TBC3C_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D3C: view

No data available for Gene Families for TBC1D3C Gene

Function for TBC1D3C Gene

Molecular function for TBC1D3C 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 TBC1D3C 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 TBC1D3C: view

Phenotypes for TBC1D3C Gene

GenomeRNAi human phenotypes for TBC1D3C:
genes like me logo Genes that share phenotypes with TBC1D3C: view

Animal Model Products

CRISPR Products

miRNA for TBC1D3C Gene

miRTarBase miRNAs that target TBC1D3C

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D3C Gene

Localization for TBC1D3C Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D3C Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D3C Gene COMPARTMENTS Subcellular localization image for TBC1D3C gene
Compartment Confidence
cytosol 3
plasma membrane 3
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for TBC1D3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005886 plasma membrane IEA --
GO:0012505 endomembrane system IBA --
genes like me logo Genes that share ontologies with TBC1D3C: view

Pathways & Interactions for TBC1D3C Gene

SuperPathways for TBC1D3C Gene

No Data Available

Interacting Proteins for TBC1D3C Gene

Selected Interacting proteins: Q6IPX1-TBC3C_HUMAN for TBC1D3C Gene via IID

Gene Ontology (GO) - Biological Process for TBC1D3C 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 TBC1D3C: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D3C Gene

Drugs & Compounds for TBC1D3C Gene

No Compound Related Data Available

Transcripts for TBC1D3C Gene

mRNA/cDNA for TBC1D3C Gene

Unigene Clusters for TBC1D3C Gene

TBC1 domain family, member 3C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D3C Gene

No ASD Table

Relevant External Links for TBC1D3C Gene

GeneLoc Exon Structure for
TBC1D3C
ECgene alternative splicing isoforms for
TBC1D3C

Expression for TBC1D3C Gene

mRNA expression in normal human tissues for TBC1D3C Gene

mRNA differential expression in normal tissues according to GTEx for TBC1D3C Gene

This gene is overexpressed in Testis (x4.7).

NURSA nuclear receptor signaling pathways regulating expression of TBC1D3C Gene:

TBC1D3C

SOURCE GeneReport for Unigene cluster for TBC1D3C Gene:

Hs.454716

mRNA Expression by UniProt/SwissProt for TBC1D3C Gene:

Q6IPX1-TBC3C_HUMAN
Tissue specificity: Expressed in pancreas, thymus and testis.
genes like me logo Genes that share expression patterns with TBC1D3C: 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 and Protein tissue co-expression partners for TBC1D3C Gene

Orthologs for TBC1D3C Gene

Evolution for TBC1D3C Gene

ENSEMBL:
Gene Tree for TBC1D3C (if available)
TreeFam:
Gene Tree for TBC1D3C (if available)

No data available for Orthologs for TBC1D3C Gene

Paralogs for TBC1D3C Gene

(14) SIMAP similar genes for TBC1D3C Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TBC1D3C: view

Variants for TBC1D3C Gene

Sequence variations from dbSNP and Humsavar for TBC1D3C Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs62074494 -- 38,070,412(+) CTCTG(C/T)CTCCC upstream-variant-2KB
rs199492289 -- 38,070,376(+) AGATT(A/G)TGCAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TBC1D3C Gene

Variant ID Type Subtype PubMed ID
dgv1463n106 CNV duplication 24896259
dgv1753e59 CNV duplication 20981092
dgv1754e59 CNV duplication 20981092
dgv1755e59 CNV duplication 20981092
dgv911e212 CNV gain 25503493
dgv912e212 CNV loss 25503493
dgv913e212 CNV loss 25503493
dgv914e212 CNV gain 25503493
dgv915e212 CNV gain 25503493
dgv916e212 CNV loss 25503493
esv2758688 CNV gain+loss 17122850
esv28567 CNV gain+loss 19812545
esv3357566 CNV duplication 20981092
esv3383710 CNV duplication 20981092
esv3572853 CNV gain 25503493
esv3573020 CNV gain 25503493
esv3582628 CNV loss 25503493
esv3582629 CNV loss 25503493
nsv1078415 CNV duplication 25765185
nsv1153123 CNV duplication 26484159
nsv428341 CNV gain+loss 18775914
nsv471398 CNV gain 19718026
nsv471507 CNV gain 19718026
nsv820624 CNV duplication 20802225
nsv833435 CNV gain+loss 17160897
nsv953891 CNV duplication 24416366

Variation tolerance for TBC1D3C Gene

Gene Damage Index Score: 1.94; 36.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D3C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D3C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D3C Gene

Disorders for TBC1D3C Gene

Relevant External Links for TBC1D3C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D3C

No disorders were found for TBC1D3C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D3C Gene

Publications for TBC1D3C 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 4 65
  2. PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. (PMID: 12359748) Pei L. … Li J. (Cancer Res. 2002) 2 3 65
  3. Diversity of human copy number variation and multicopy genes. (PMID: 21030649) Sudmant P.H. … Eichler E.E. (Science 2010) 4 65
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 4 65
  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) 4 65

Products for TBC1D3C Gene

Sources for TBC1D3C Gene

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