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] See more...

Aliases for TBC1D3C Gene

Aliases for TBC1D3C Gene

  • TBC1 Domain Family Member 3C 2 3 4 5
  • TBC1D3D 3 4
  • TBC1 Domain Family Member 3C-Like Protein ENSP00000341742 3
  • Rab GTPase-Activating Protein PRC17 3
  • Prostate Cancer Gene 17 Protein 3
  • TBC1 Domain Family Member 3C/3D 3
  • TBC1 Domain Family, Member 3C 2
  • TBC1 Domain Family Member 3 3
  • Protein TRE17-Alpha 3
  • MGC44903 2
  • TBC1D3A 3
  • TBC1D3C 5
  • TBC1D3 3
  • PRC17 3

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. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D3.

UniProtKB/Swiss-Prot Summary for TBC1D3C Gene

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

Additional gene information for TBC1D3C Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D3C Gene

Genomics for TBC1D3C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBC1D3C 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
GH17J038085 Enhancer 0.2 Ensembl 0.4 -15.5 -15467 0.2 piR-57461-086 ENSG00000274615 ENSG00000275006 LOC101929950 TBC1D3C TBC1D3E
GH17J038083 Enhancer 0.2 Ensembl 0.4 -15.1 -15067 0.2 piR-57461-086 ENSG00000274615 ENSG00000275006 LOC101929950 TBC1D3C TBC1D3E
GH17J038087 Enhancer 0.2 Ensembl 0.4 -19.3 -19267 2.6 ENSG00000275006 ENSG00000274615 LOC101929950 piR-57461-086 TBC1D3C TBC1D3E
GH17J038084 Enhancer 0.2 Ensembl 0.4 -16.2 -16167 0.8 ENSG00000275006 piR-57461-086 ENSG00000274615 LOC101929950 TBC1D3C TBC1D3E
GH17J038086 Enhancer 0.2 Ensembl 0.4 -17.1 -17067 0.2 ENSG00000275006 ENSG00000274615 LOC101929950 piR-57461-086 TBC1D3C TBC1D3E
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D3C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D3C

Top Transcription factor binding sites by QIAGEN in the TBC1D3C gene promoter:
  • aMEF-2
  • c-Myb
  • C/EBPalpha
  • C/EBPbeta
  • CUTL1
  • HSF2
  • LCR-F1
  • MEF-2A
  • MZF-1
  • Pbx1a

Genomic Locations for TBC1D3C Gene

Genomic Locations for TBC1D3C Gene
chr17:38,057,693-38,068,634
(GRCh38/hg38)
Size:
10,942 bases
Orientation:
Minus strand
chr17:34,580,902-34,757,050
(GRCh37/hg19)
Size:
176,149 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

  • Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation.
  • Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D3C Gene

No data available for DME Specific Peptides for TBC1D3C Gene

Domains & Families for TBC1D3C Gene

Gene Families for TBC1D3C Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TBC1D3C Gene

InterPro:
Blocks:
  • RabGAP/TBC domain
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D3C Gene

GenScript: Design optimal peptide antigens:
  • TBC1 domain family member 3C (TBC3C_HUMAN)
genes like me logo Genes that share domains with TBC1D3C: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for TBC1D3C Gene

Gene Ontology (GO) - Molecular Function for TBC1D3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0017137 Rab GTPase binding IBA 21873635
genes like me logo Genes that share ontologies with TBC1D3C: view

Phenotypes for TBC1D3C Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D3C

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 the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBC1D3C 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 TBC1D3C: view

No data available for Subcellular locations from COMPARTMENTS for TBC1D3C Gene

Pathways & Interactions for TBC1D3C Gene

PathCards logo

SuperPathways for TBC1D3C Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D3C 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 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

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D3C

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

No ASD Table

Relevant External Links for TBC1D3C Gene

GeneLoc Exon Structure for
TBC1D3C

Expression for TBC1D3C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBC1D3C Gene

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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:

  • TBC3C_HUMAN
  • A6NG99_HUMAN
  • K7ES81_HUMAN
genes like me logo Genes that share paralogs with TBC1D3C: view

Variants for TBC1D3C Gene

Additional dbSNP identifiers (rs#s) for TBC1D3C Gene

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)

Additional Variant Information for TBC1D3C Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D3C Gene

Disorders for TBC1D3C Gene

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 PD (Genomics 2006) 2 3 4
  2. PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. (PMID: 12359748) Pei L … Li J (Cancer research 2002) 2 3
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. (PMID: 28700943) Martin TD … Elledge SJ (Cell reports 2017) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for TBC1D3C Gene

Sources for TBC1D3C Gene