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] See more...

Aliases for TBC1D3B Gene

Aliases for TBC1D3B Gene

  • TBC1 Domain Family Member 3B 2 3 4 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
  • GC17M036166
  • GC17M036169
  • GC17M036196
  • GC17M036220

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. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D3G.

UniProtKB/Swiss-Prot Summary for TBC1D3B Gene

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

Additional gene information for TBC1D3B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D3B Gene

Genomics for TBC1D3B Gene

GeneHancer (GH) Regulatory Elements for TBC1D3B Gene

Promoters and enhancers for TBC1D3B 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
GH17J036176 Promoter 0.3 EPDnew 500.7 +0.0 23 0.1 TBC1D3B piR-47962-001 LOC100420851 ENSG00000276241
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D3B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D3B

Top Transcription factor binding sites by QIAGEN in the TBC1D3B gene promoter:
  • aMEF-2
  • c-Myb
  • C/EBPalpha
  • CUTL1
  • HSF2
  • LCR-F1
  • MEF-2A
  • MZF-1
  • Pbx1a

Genomic Locations for TBC1D3B Gene

Genomic Locations for TBC1D3B Gene
chr17:36,165,681-36,176,636
(GRCh38/hg38)
Size:
10,956 bases
Orientation:
Minus strand
chr17:34,493,061-34,503,996
(GRCh37/hg19)
Size:
10,936 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

  • 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 TBC1D3B Gene

No data available for DME Specific Peptides for TBC1D3B Gene

Domains & Families for TBC1D3B Gene

Gene Families for TBC1D3B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TBC1D3B Gene

Suggested Antigen Peptide Sequences for TBC1D3B Gene

GenScript: Design optimal peptide antigens:
  • TBC1 domain family member 3B (TBC3B_HUMAN)
genes like me logo Genes that share domains with TBC1D3B: view

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

Phenotypes From GWAS Catalog for TBC1D3B Gene

Gene Ontology (GO) - Molecular Function for TBC1D3B 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 TBC1D3B: view
genes like me logo Genes that share phenotypes with TBC1D3B: view

Animal Model Products

CRISPR Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D3B gene
Compartment Confidence
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)

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

Pathways & Interactions for TBC1D3B Gene

PathCards logo

SuperPathways for TBC1D3B Gene

No Data Available

Interacting Proteins for TBC1D3B Gene

;

Gene Ontology (GO) - Biological Process for TBC1D3B 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 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

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

CRISPR Products

Clone 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

Expression for TBC1D3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBC1D3B Gene

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D3B

SOURCE GeneReport for Unigene cluster for TBC1D3B Gene:

Hs.105891
genes like me logo Genes that share expression patterns with TBC1D3B: view

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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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:

  • TBC3B_HUMAN
  • K7EIT9_HUMAN
genes like me logo Genes that share paralogs with TBC1D3B: view

Variants for TBC1D3B Gene

Additional dbSNP identifiers (rs#s) for TBC1D3B Gene

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)

Additional Variant Information for TBC1D3B Gene

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

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 TBC1D3B Gene

Disorders for TBC1D3B Gene

Additional Disease Information for 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. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4 54
  2. 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 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  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 (Molecular & cellular proteomics : MCP 2014) 3 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for TBC1D3B Gene

Sources for TBC1D3B Gene