Aliases for TBC1D3F Gene

Aliases for TBC1D3F Gene

  • TBC1 Domain Family Member 3F 2 3 4 5
  • Prostate Cancer Gene 17 Protein 3
  • TBC1 Domain Family, Member 3F 2
  • TBC1 Domain Family Member 3G 3
  • TBC1 Domain Family Member 3 3
  • Protein TRE17-Alpha 3
  • TBC1D3G 3
  • TBC1D3F 5
  • TBC1D3E 4
  • TBC1D3 3

External Ids for TBC1D3F Gene

Previous GeneCards Identifiers for TBC1D3F Gene

  • GC17M031607
  • GC17U900818
  • GC17P033363
  • GC17M033595
  • GC17P036283
  • GC17M030678
  • GC17M036377

Summaries for TBC1D3F Gene

GeneCards Summary for TBC1D3F Gene

TBC1D3F (TBC1 Domain Family Member 3F) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D3I.

UniProtKB/Swiss-Prot Summary for TBC1D3F Gene

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

Gene Wiki entry for TBC1D3F Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D3F Gene

Genomics for TBC1D3F Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBC1D3F 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
GH17J036485 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.3 -46.3 -46335 4.6 TBP SP1 MXD4 CEBPA MNT IKZF1 SMAD5 ETS1 IRF2 MBD2 ZNHIT3 HSALNG0116025 LOC105371749 lnc-MYO19-2 piR-31974 MYO19 PIGW piR-35666-009 TBC1D3F
GH17J036463 Enhancer 1 Ensembl ENCODE 0.3 -24.6 -24587 0.7 MNT ZFP64 BHLHE40 SIN3A ZNF395 REST HCFC1 MAX VEZF1 MAFF CCL4L2 piR-35666-009 TBC1D3F ZNHIT3 lnc-MYO19-2
GH17J036482 Enhancer 1.1 FANTOM5 ENCODE 0.3 -43.5 -43471 0.9 ZSCAN16 CHD2 ZBTB10 MXD4 MNT IRF2 CTCF BHLHE40 ZNF610 THAP11 MYO19 SNHG30 LOC105371749 ZNHIT3 lnc-MYO19-2 piR-35666-009 TBC1D3F
GH17J036388 Promoter 0.4 EPDnew 0.2 +51.1 51110 0.1 MNT HSALNG0116019 TBC1D3H piR-47962-004 lnc-TBC1D3H-3 LOC100420852 TBC1D3F
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D3F on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D3F

Top Transcription factor binding sites by QIAGEN in the TBC1D3F gene promoter:
  • ATF
  • Egr-4
  • HTF
  • Lmo2
  • NF-1
  • NF-1/L

Genomic Locations for TBC1D3F Gene

Latest Assembly
chr17:36,428,612-36,439,566
(GRCh38/hg38)
Size:
10,955 bases
Orientation:
Minus strand

Previous Assembly
chr17:34,797,172-34,808,058
(GRCh37/hg19 by Entrez Gene)
Size:
10,887 bases
Orientation:
Minus strand

Genomic View for TBC1D3F Gene

Genes around TBC1D3F on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D3F Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D3F Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D3F Gene

Proteins for TBC1D3F Gene

  • Protein details for TBC1D3F Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NER0-TBC3F_HUMAN
    Recommended name:
    TBC1 domain family member 3F
    Protein Accession:
    A6NER0

    Protein attributes for TBC1D3F Gene

    Size:
    549 amino acids
    Molecular mass:
    62185 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 TBC1D3F Gene

Post-translational modifications for TBC1D3F 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 TBC1D3F Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D3F Gene

Domains & Families for TBC1D3F Gene

Gene Families for TBC1D3F Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TBC1D3F Gene

Suggested Antigen Peptide Sequences for TBC1D3F Gene

GenScript: Design optimal peptide antigens:
  • TBC1 domain family member 3F (TBC3F_HUMAN)
genes like me logo Genes that share domains with TBC1D3F: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TBC1D3F Gene

Function for TBC1D3F Gene

Molecular function for TBC1D3F 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 TBC1D3F Gene

Gene Ontology (GO) - Molecular Function for TBC1D3F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with TBC1D3F: view

Phenotypes for TBC1D3F Gene

genes like me logo Genes that share phenotypes with TBC1D3F: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D3F

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TBC1D3F Gene

Localization for TBC1D3F Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D3F 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 TBC1D3F gene
Compartment Confidence
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBC1D3F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with TBC1D3F: view

Pathways & Interactions for TBC1D3F Gene

PathCards logo

SuperPathways for TBC1D3F Gene

No Data Available

Interacting Proteins for TBC1D3F Gene

Gene Ontology (GO) - Biological Process for TBC1D3F 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 TBC1D3F: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D3F Gene

Drugs & Compounds for TBC1D3F Gene

No Compound Related Data Available

Transcripts for TBC1D3F Gene

mRNA/cDNA for TBC1D3F Gene

1 REFSEQ mRNAs :
3 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 TBC1D3F

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D3F Gene

No ASD Table

Relevant External Links for TBC1D3F Gene

GeneLoc Exon Structure for
TBC1D3F

Expression for TBC1D3F Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBC1D3F Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D3F

mRNA Expression by UniProt/SwissProt for TBC1D3F Gene:

A6NER0-TBC3F_HUMAN
Tissue specificity: Expressed in most tissues including pancreas, thymus and testis.
genes like me logo Genes that share expression patterns with TBC1D3F: view

Primer products for research

No data available for 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D3F Gene

Orthologs for TBC1D3F Gene

Evolution for TBC1D3F Gene

ENSEMBL:
Gene Tree for TBC1D3F (if available)
TreeFam:
Gene Tree for TBC1D3F (if available)

No data available for Orthologs for TBC1D3F Gene

Paralogs for TBC1D3F Gene

(15) SIMAP similar genes for TBC1D3F Gene using alignment to 3 proteins:

  • TBC3F_HUMAN
  • A6NFD7_HUMAN
  • F5GZ95_HUMAN
genes like me logo Genes that share paralogs with TBC1D3F: view

Variants for TBC1D3F Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TBC1D3F 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 TBC1D3F Gene

Variant ID Type Subtype PubMed ID
dgv1463n106 CNV duplication 24896259
dgv1745e59 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
esv27635 CNV gain+loss 19812545
esv28567 CNV gain+loss 19812545
esv3416493 CNV duplication 20981092
esv3572853 CNV gain 25503493
esv3573020 CNV gain 25503493
esv3582628 CNV loss 25503493
esv3582629 CNV loss 25503493
nsv1077842 CNV duplication 25765185
nsv1078415 CNV duplication 25765185
nsv1124756 CNV duplication 24896259
nsv1132452 CNV duplication 24896259
nsv1147590 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
nsv953886 CNV duplication 24416366
nsv953891 CNV duplication 24416366
nsv962313 CNV duplication 23825009

Variation tolerance for TBC1D3F Gene

Gene Damage Index Score: 0.25; 5.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBC1D3F Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D3F

SNP Genotyping and Copy Number Assays for research

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 TBC1D3F Gene

Disorders for TBC1D3F Gene

Additional Disease Information for TBC1D3F

No disorders were found for TBC1D3F Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D3F Gene

Publications for TBC1D3F 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. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3

Products for TBC1D3F Gene

Sources for TBC1D3F Gene