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Aliases for TBC1D3C Gene

Aliases for TBC1D3C Gene

  • TBC1 Domain Family, Member 3C 2 3
  • 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 3

External Ids for TBC1D3C Gene

Previous GeneCards Identifiers for TBC1D3C Gene

  • GC17M031606
  • GC17M034580

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. An important paralog of this gene is LOC102724862.

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

Genomic Location for TBC1D3C Gene

Start:
37,978,470 bp from pter
End:
38,068,644 bp from pter
Size:
90,175 bases
Orientation:
Minus strand

Genomic View for TBC1D3C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    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

Proteomics data for TBC1D3C Gene at MOPED

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 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 :
  • Q6IPX1
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 IEA --
genes like me logo Genes that share ontologies with TBC1D3C: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for TBC1D3C Gene

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

Pathways for TBC1D3C Gene

SuperPathways for TBC1D3C Gene

No Data Available

Interacting Proteins for TBC1D3C Gene

Gene Ontology (GO) - Biological Process for TBC1D3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with TBC1D3C: view

No data available for Pathways by source for TBC1D3C Gene

Transcripts for TBC1D3C Gene

Unigene Clusters for TBC1D3C Gene

TBC1 domain family, member 3C:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBC1D3C

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for TBC1D3C
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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 (4.7).

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 expressions with TBC1D3C: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein expression 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

Paralogs for TBC1D3C Gene

Selected 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 MAF
rs71241928 -- 38,070,405(+) CTGCA(A/C)CCTCT upstream-variant-2KB
rs199492305 -- 38,059,799(+) TGGGC(A/G)GTGCC intron-variant, utr-variant-3-prime
rs199565958 -- 1(+) CATAT(A/C/G)CTTCC reference, missense
rs200454631 -- 1(+) AGACA(A/C/G)AATTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv945e1 CNV Complex 17122850
nsv428340 CNV Gain 18775914
dgv946e1 CNV Complex 17122850
dgv947e1 CNV Complex 17122850
dgv948e1 CNV Complex 17122850
nsv9540 CNV Gain+Loss 18304495
esv29264 CNV Gain+Loss 19812545
dgv3145n71 CNV Gain 21882294
dgv122e55 CNV Gain 17911159
esv33107 CNV Loss 17666407
esv2751645 CNV Gain 17911159
dgv3151n71 CNV Gain 21882294
esv29998 CNV Loss 17803354
nsv526727 CNV Gain 19592680
nsv2040 CNV Loss 18451855
dgv12n31 CNV Duplication 19718026
nsv436845 CNV Insertion 17901297
dgv951e1 CNV Complex 17122850
nsv821611 CNV Deletion 20802225
dgv546e199 CNV Deletion 23128226
nsv511598 CNV Loss 21212237

Relevant External Links for TBC1D3C Gene

HapMap Linkage Disequilibrium report
TBC1D3C

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

Disorders for TBC1D3C Gene

No disorders were found for TBC1D3C Gene.

No data available for UniProtKB/Swiss-Prot 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
  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
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  4. The Tre2 (USP6) oncogene is a hominoid-specific gene. (PMID: 12604796) Paulding C.A. … Haber D.A. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3
  5. Generation and analysis of 280,000 human expressed sequence tags. (PMID: 8889549) Hillier L.D. … Marra M. (Genome Res. 1996) 3

Products for TBC1D3C Gene

Sources for TBC1D3C Gene

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