TBC1D3K Gene (Protein Coding)

TBC1 Domain Family Member 3K

GC17P037923
GIFtS:
16
See more...

Aliases for TBC1D3K Gene

Aliases for TBC1D3K Gene

  • TBC1 Domain Family Member 3K 2 3 4 5
  • TBC1 Domain Family Member-Like 3
  • TBC1 Domain Family, Member 3K 2
  • TBC1D3K 5

External Ids for TBC1D3K Gene

Summaries for TBC1D3K Gene

GeneCards Summary for TBC1D3K Gene

TBC1D3K (TBC1 Domain Family Member 3K) is a Protein Coding gene. An important paralog of this gene is TBC1D3I.

UniProtKB/Swiss-Prot Summary for TBC1D3K Gene

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

Additional gene information for TBC1D3K Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D3K Gene

Genomics for TBC1D3K Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TBC1D3K 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
GH17J037924 Promoter 0.3 EPDnew 250.7 +0.6 636 0.1 HSALNG0116141 TBC1D3K piR-47962-006 TBC1D3L
GH17J037922 Enhancer 0.2 Ensembl 250.7 -1.3 -1304 0.2 TBC1D3K piR-31534-285 HNF1B
GH17J037847 Enhancer 1.3 FANTOM5 Ensembl ENCODE 0.2 -74.9 -74904 2.6 BCL11A IKZF1 ZEB1 CEBPB ZNF639 VEZF1 TRIM22 IRF4 EBF1 RAD21 piR-41200 lnc-HNF1B-3 lnc-HNF1B-2 YWHAEP7 HSALNG0116134 TBC1D3K HNF1B
GH17J037884 Enhancer 0.7 Ensembl 0.3 -39.0 -39004 0.8 KDM6A THAP11 SAP130 ZFP91 BCL6 SOX5 ELF1 TCF12 HNF4A NFIA YWHAEP7 HNF1B RNU6-489P TBC1D3K
GH17J037832 Enhancer 1.1 Ensembl ENCODE dbSUPER 0.2 -90.7 -90704 1.8 IRF4 GABPA SMARCA5 ZNF316 FOSL1 NFE2 BATF SRF MYC MAX HSALNG0116139 HNF1B NONHSAG021645.2 lnc-HNF1B-3 YWHAEP7 HSALNG0116134 TBC1D3K
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D3K on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D3K

Genomic Locations for TBC1D3K Gene

Latest Assembly
chr17:37,923,805-37,935,371
(GRCh38/hg38)
Size:
11,567 bases
Orientation:
Plus strand

Genomic View for TBC1D3K Gene

Genes around TBC1D3K on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D3K Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D3K Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TBC1D3K Gene

Proteins for TBC1D3K Gene

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  • Protein details for TBC1D3K Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0A087X1G2-TBC3K_HUMAN
    Recommended name:
    TBC1 domain family member 3K
    Protein Accession:
    A0A087X1G2

    Protein attributes for TBC1D3K Gene

    Size:
    549 amino acids
    Molecular mass:
    62171 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 TBC1D3K Gene

Post-translational modifications for TBC1D3K Gene

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

Other Protein References for TBC1D3K Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D3K Gene

Domains & Families for TBC1D3K Gene

Gene Families for TBC1D3K Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TBC1D3K Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with TBC1D3K: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TBC1D3K Gene

Function for TBC1D3K Gene

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  6. Cell Lines for research

Molecular function for TBC1D3K 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 TBC1D3K Gene

Gene Ontology (GO) - Molecular Function for TBC1D3K Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0031267 small GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D3K: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D3K

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TBC1D3K Gene

Localization for TBC1D3K Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D3K Gene

Cell membrane. Lipid-anchor. Note=Associated with lipid rafts. {ECO:0000250 UniProtKB:Q8IZP1}.

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 TBC1D3K gene
Compartment Confidence
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBC1D3K 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 TBC1D3K: view

Pathways & Interactions for TBC1D3K Gene

PathCards logo

SuperPathways for TBC1D3K Gene

No Data Available

Interacting Proteins for TBC1D3K Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000484181 for TBC1D3K Gene via STRING

GPS-Prot Interaction Network for TBC1D3K

Gene Ontology (GO) - Biological Process for TBC1D3K 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 TBC1D3K: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D3K Gene

Drugs & Compounds for TBC1D3K Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for TBC1D3K Gene

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mRNA/cDNA for TBC1D3K Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D3K

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D3K Gene

No ASD Table

Relevant External Links for TBC1D3K Gene

GeneLoc Exon Structure for
TBC1D3K

Expression for TBC1D3K Gene

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  1. Primer products for research
  2. Gene Expression Assays for research
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 TBC1D3K Gene

Orthologs for TBC1D3K Gene

Evolution for TBC1D3K Gene

ENSEMBL:
Gene Tree for TBC1D3K (if available)
TreeFam:
Gene Tree for TBC1D3K (if available)

No data available for Orthologs for TBC1D3K Gene

Paralogs for TBC1D3K Gene

Variants for TBC1D3K Gene

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  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TBC1D3K Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TBC1D3K Gene

Variant ID Type Subtype PubMed ID
dgv1463n106 CNV duplication 24896259
dgv1744e59 CNV duplication 20981092
dgv1745e59 CNV duplication 20981092
dgv1755e59 CNV duplication 20981092
dgv5566n54 CNV loss 21841781
dgv5567n54 CNV loss 21841781
dgv5568n54 CNV loss 21841781
dgv5569n54 CNV loss 21841781
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
esv27635 CNV gain+loss 19812545
esv28567 CNV gain+loss 19812545
esv3334247 CNV duplication 20981092
esv3383710 CNV duplication 20981092
esv3387800 CNV duplication 20981092
esv3413814 CNV duplication 20981092
esv3416493 CNV duplication 20981092
esv3572853 CNV gain 25503493
esv3573020 CNV gain 25503493
esv3582628 CNV loss 25503493
esv3582629 CNV loss 25503493
nsv1070402 CNV deletion 25765185
nsv1075937 CNV duplication 25765185
nsv1077842 CNV duplication 25765185
nsv1078413 CNV duplication 25765185
nsv1078415 CNV duplication 25765185
nsv1115521 CNV duplication 24896259
nsv1124756 CNV duplication 24896259
nsv1128762 CNV duplication 24896259
nsv1132451 CNV duplication 24896259
nsv1132452 CNV duplication 24896259
nsv1136233 CNV deletion 24896259
nsv1141305 CNV duplication 24896259
nsv1147590 CNV duplication 26484159
nsv1149935 CNV duplication 26484159
nsv1151936 CNV duplication 26484159
nsv1153123 CNV duplication 26484159
nsv428341 CNV gain+loss 18775914
nsv469738 CNV gain+loss 16826518
nsv469796 CNV gain+loss 16826518
nsv469853 CNV gain+loss 16826518
nsv471328 CNV gain 19718026
nsv471507 CNV gain 19718026
nsv471697 CNV gain 15918152
nsv509654 CNV insertion 20534489
nsv574895 CNV loss 21841781
nsv574903 CNV loss 21841781
nsv574907 CNV loss 21841781
nsv820624 CNV duplication 20802225
nsv833432 CNV gain+loss 17160897
nsv833435 CNV gain+loss 17160897
nsv953886 CNV duplication 24416366
nsv953890 CNV duplication 24416366
nsv953891 CNV duplication 24416366
nsv960598 CNV duplication 23825009
nsv962313 CNV duplication 23825009

Additional Variant Information for TBC1D3K Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D3K

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for TBC1D3K Gene

Disorders for TBC1D3K Gene

Additional Disease Information for TBC1D3K

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for TBC1D3K Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D3K Gene

Publications for TBC1D3K Gene

  1. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. Diversity of human copy number variation and multicopy genes. (PMID: 21030649) Sudmant PH … Eichler EE (Science (New York, N.Y.) 2010) 4
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4
  5. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. (PMID: 16863688) Hodzic D … Stahl PD (Genomics 2006) 3

ExternalLinks

View latest publications for TBC1D3K gene in Mastermind

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Sources for TBC1D3K Gene