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Aliases for TBC1D3B Gene

Aliases for TBC1D3B Gene

  • TBC1 Domain Family Member 3B 2 3 5
  • TBC1 Domain Family, Member 3I 2 3
  • TBC1D3I 3 4
  • Rab GTPase-Activating Protein PRC17 Duplicate 3
  • TBC1 Domain Family, Member 3-Like 3
  • Prostate Cancer Gene 17 Duplicate 3
  • TBC1 Domain Family Member 3B/I 3
  • TBC1 Domain Family, Member 3B 2
  • TBC1D3L 3
  • PRC17 3

External Ids for TBC1D3B Gene

Previous HGNC Symbols for TBC1D3B Gene

  • TBC1D3I

Previous GeneCards Identifiers for TBC1D3B Gene

  • GC17M031519
  • GC17M034492

Summaries for TBC1D3B Gene

Entrez Gene Summary for TBC1D3B Gene

  • This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. [provided by RefSeq, Apr 2009]

GeneCards Summary for TBC1D3B Gene

TBC1D3B (TBC1 Domain Family Member 3B) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D3G.

UniProtKB/Swiss-Prot for TBC1D3B 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 TBC1D3B Gene

Genomics for TBC1D3B Gene

Regulatory Elements for TBC1D3B Gene

Enhancers for TBC1D3B 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 TBC1D3B on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D3B Gene

Chromosome:
17
Start:
36,165,681 bp from pter
End:
36,176,636 bp from pter
Size:
10,956 bases
Orientation:
Minus strand

Genomic View for TBC1D3B Gene

Genes around TBC1D3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D3B Gene

Proteins for TBC1D3B Gene

  • Protein details for TBC1D3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NDS4-TBC3B_HUMAN
    Recommended name:
    TBC1 domain family member 3B
    Protein Accession:
    A6NDS4
    Secondary Accessions:
    • A8K892

    Protein attributes for TBC1D3B Gene

    Size:
    549 amino acids
    Molecular mass:
    62320 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 TBC1D3B Gene

Post-translational modifications for TBC1D3B 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 TBC1D3B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D3B Gene

Domains & Families for TBC1D3B Gene

Protein Domains for TBC1D3B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D3B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6NDS4

UniProtKB/Swiss-Prot:

TBC3B_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D3B: view

No data available for Gene Families for TBC1D3B Gene

Function for TBC1D3B Gene

Molecular function for TBC1D3B 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 TBC1D3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D3B: view

Phenotypes for TBC1D3B Gene

GenomeRNAi human phenotypes for TBC1D3B:
genes like me logo Genes that share phenotypes with TBC1D3B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TBC1D3B Gene

Localization for TBC1D3B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D3B Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D3B Gene COMPARTMENTS Subcellular localization image for TBC1D3B gene
Compartment Confidence
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for TBC1D3B 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 TBC1D3B: view

Pathways & Interactions for TBC1D3B Gene

SuperPathways for TBC1D3B Gene

No Data Available

Interacting Proteins for TBC1D3B Gene

Selected Interacting proteins: A6NDS4-TBC3B_HUMAN for TBC1D3B Gene via IID

Gene Ontology (GO) - Biological Process for TBC1D3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0090630 activation of GTPase activity IBA --
genes like me logo Genes that share ontologies with TBC1D3B: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D3B Gene

Drugs & Compounds for TBC1D3B Gene

No Compound Related Data Available

Transcripts for TBC1D3B Gene

mRNA/cDNA for TBC1D3B Gene

Unigene Clusters for TBC1D3B Gene

TBC1 domain family, member 3B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D3B Gene

No ASD Table

Relevant External Links for TBC1D3B Gene

GeneLoc Exon Structure for
TBC1D3B
ECgene alternative splicing isoforms for
TBC1D3B

Expression for TBC1D3B Gene

mRNA expression in normal human tissues for TBC1D3B Gene

mRNA differential expression in normal tissues according to GTEx for TBC1D3B Gene

This gene is overexpressed in Testis (x6.1).

NURSA nuclear receptor signaling pathways regulating expression of TBC1D3B Gene:

TBC1D3B

SOURCE GeneReport for Unigene cluster for TBC1D3B Gene:

Hs.105891
genes like me logo Genes that share expression patterns with TBC1D3B: 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 and mRNA Expression by UniProt/SwissProt for TBC1D3B Gene

Orthologs for TBC1D3B Gene

Evolution for TBC1D3B Gene

ENSEMBL:
Gene Tree for TBC1D3B (if available)
TreeFam:
Gene Tree for TBC1D3B (if available)

No data available for Orthologs for TBC1D3B Gene

Paralogs for TBC1D3B Gene

(13) SIMAP similar genes for TBC1D3B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TBC1D3B: view

Variants for TBC1D3B Gene

Sequence variations from dbSNP and Humsavar for TBC1D3B Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs474146 -- 36,171,237(-) ACGGG(A/G)ATGGG intron-variant
rs504730 -- 36,171,983(+) CCAAG(A/C)GGAGG intron-variant
rs2459579 -- 36,178,488(+) AGGTT(C/G/T)CTCCC upstream-variant-2KB
rs4480866 -- 36,168,481(+) ACCCC(C/T)CTTGG intron-variant
rs4795249 -- 36,169,293(+) CTCCC(A/C/G)TCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D3B Gene

Variant ID Type Subtype PubMed ID
dgv1458n106 CNV duplication 24896259
dgv3144n100 CNV gain 25217958
dgv3145n100 CNV gain 25217958
dgv3146n100 CNV gain 25217958
dgv3147n100 CNV gain 25217958
dgv5536n54 CNV gain 21841781
dgv5538n54 CNV gain 21841781
esv2664544 CNV deletion 23128226
esv2715876 CNV deletion 23290073
esv2760467 CNV gain 21179565
esv2762388 CNV gain+loss 21179565
esv33107 CNV loss 17666407
esv3359327 CNV duplication 20981092
esv3373428 CNV duplication 20981092
esv3373836 CNV duplication 20981092
esv3893000 CNV gain+loss 25118596
esv3893001 CNV gain 25118596
esv3893005 CNV loss 25118596
nsv1061066 CNV loss 25217958
nsv1061448 CNV gain+loss 25217958
nsv1066186 CNV gain 25217958
nsv1075934 CNV duplication 25765185
nsv1077841 CNV duplication 25765185
nsv1147889 CNV duplication 26484159
nsv1160469 CNV duplication 26073780
nsv2040 CNV deletion 18451855
nsv433448 CNV gain 18776910
nsv514836 CNV gain 21397061
nsv514837 CNV gain 21397061
nsv953881 CNV duplication 24416366
nsv960473 CNV duplication 23825009

Variation tolerance for TBC1D3B Gene

Gene Damage Index Score: 2.84; 47.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D3B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D3B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D3B Gene

Disorders for TBC1D3B Gene

Relevant External Links for TBC1D3B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D3B

No disorders were found for TBC1D3B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D3B Gene

Publications for TBC1D3B 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 65
  2. 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 65
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  4. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. (PMID: 25277244) Katsogiannou M. … Rocchi P. (Mol. Cell Proteomics 2014) 3 65
  5. Diversity of human copy number variation and multicopy genes. (PMID: 21030649) Sudmant P.H. … Eichler E.E. (Science 2010) 4 65

Products for TBC1D3B Gene

Sources for TBC1D3B Gene

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