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Aliases for TBC1D1 Gene

Aliases for TBC1D1 Gene

  • TBC1 Domain Family Member 1 2 3 5
  • TBC1 (Tre-2/USP6, BUB2, Cdc16) Domain Family, Member 1 2 3
  • TBC1 Domain Family, Member 1 2
  • KIAA1108 4
  • TBC1 3
  • TBC 3

External Ids for TBC1D1 Gene

Previous GeneCards Identifiers for TBC1D1 Gene

  • GC04P038018
  • GC04P038181
  • GC04P037850
  • GC04P037789
  • GC04P037716
  • GC04P037569
  • GC04P037217

Summaries for TBC1D1 Gene

Entrez Gene Summary for TBC1D1 Gene

  • TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]

GeneCards Summary for TBC1D1 Gene

TBC1D1 (TBC1 Domain Family Member 1) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Glucose / Energy Metabolism. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D4.

UniProtKB/Swiss-Prot for TBC1D1 Gene

  • May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues. Involved in the trafficking and translocation of GLUT4-containing vesicles and insulin-stimulated glucose uptake into cells (By similarity).

Gene Wiki entry for TBC1D1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D1 Gene

Genomics for TBC1D1 Gene

Regulatory Elements for TBC1D1 Gene

Enhancers for TBC1D1 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
GH04F037987 0.8 Ensembl ENCODE 35.3 +99.0 98974 4.7 ESRRA TEAD4 MAX DPF2 REST ZNF316 GATA3 CTBP1 IKZF1 NFE2 TBC1D1 PGM2 GC04P037993 PTTG2
GH04F037981 1.3 Ensembl ENCODE 34.6 +91.4 91351 2.9 GATA3 PRDM10 MAFK FOXA1 TBC1D1 PGM2 RELL1 GC04P037993 PTTG2
GH04F037997 1.1 FANTOM5 Ensembl ENCODE 29.4 +107.5 107523 2.7 SMARCA4 POLR2A ZNF341 REST MNT TBC1D1 PGM2 PSME2P4 MRPS33P2
GH04F037993 0.5 Ensembl 29.2 +103.5 103517 3.2 ARID1B NCOR1 TAL1 ZSCAN29 TBC1D1 PGM2 GC04M037995 GC04P037993
GH04F038002 0.8 Ensembl ENCODE 28.2 +113.0 113017 3.8 DDX20 NR4A1 ZNF175 PTRF BACH1 FEZF1 PTTG1 ZNF592 ZNF121 JUND TBC1D1 PGM2 MRPS33P2 PSME2P4
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TBC1D1 on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001239285 117 2400 ZNF48 RAD21 YY1 EGR1 ZNF366 SCRT2 ETV6 EGR2 ZNF263 CBFB

Genomic Location for TBC1D1 Gene

Chromosome:
4
Start:
37,891,084 bp from pter
End:
38,139,175 bp from pter
Size:
248,092 bases
Orientation:
Plus strand

Genomic View for TBC1D1 Gene

Genes around TBC1D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D1 Gene

Proteins for TBC1D1 Gene

  • Protein details for TBC1D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86TI0-TBCD1_HUMAN
    Recommended name:
    TBC1 domain family member 1
    Protein Accession:
    Q86TI0
    Secondary Accessions:
    • B7Z3D9
    • E9PGH8
    • Q96K82
    • Q9UPP4

    Protein attributes for TBC1D1 Gene

    Size:
    1168 amino acids
    Molecular mass:
    133084 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB55057.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TBC1D1 Gene

    Alternative splice isoforms for TBC1D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D1 Gene

Post-translational modifications for TBC1D1 Gene

  • Insulin-stimulated phosphorylation by AKT family kinases stimulates SLC2A4/GLUT4 translocation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for TBC1D1

No data available for DME Specific Peptides for TBC1D1 Gene

Domains & Families for TBC1D1 Gene

Suggested Antigen Peptide Sequences for TBC1D1 Gene

Graphical View of Domain Structure for InterPro Entry

Q86TI0

UniProtKB/Swiss-Prot:

TBCD1_HUMAN :
  • Contains 1 PID domain.
Domain:
  • Contains 1 PID domain.
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D1: view

No data available for Gene Families for TBC1D1 Gene

Function for TBC1D1 Gene

Molecular function for TBC1D1 Gene

UniProtKB/Swiss-Prot Function:
May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues. Involved in the trafficking and translocation of GLUT4-containing vesicles and insulin-stimulated glucose uptake into cells (By similarity).

Gene Ontology (GO) - Molecular Function for TBC1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0005515 protein binding IPI 22354992
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D1: view
genes like me logo Genes that share phenotypes with TBC1D1: view

Animal Models for TBC1D1 Gene

MGI Knock Outs for TBC1D1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TBC1D1 Gene

Localization for TBC1D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D1 Gene COMPARTMENTS Subcellular localization image for TBC1D1 gene
Compartment Confidence
cytosol 5
nucleus 3
chloroplast 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TBC1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005634 nucleus IEA --
GO:0005829 cytosol TAS --
GO:0012505 endomembrane system IBA --
genes like me logo Genes that share ontologies with TBC1D1: view

Pathways & Interactions for TBC1D1 Gene

genes like me logo Genes that share pathways with TBC1D1: view

Pathways by source for TBC1D1 Gene

1 Cell Signaling Technology pathway for TBC1D1 Gene
1 KEGG pathway for TBC1D1 Gene

SIGNOR curated interactions for TBC1D1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for TBC1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0032880 regulation of protein localization IEA --
GO:0061024 membrane organization TAS --
GO:0090630 activation of GTPase activity IBA --
genes like me logo Genes that share ontologies with TBC1D1: view

Drugs & Compounds for TBC1D1 Gene

(2) Drugs for TBC1D1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clozapine Approved Pharma Antagonist Antipsychotic medication 114
Olanzapine Approved, Investigational Pharma Antagonist 395
genes like me logo Genes that share compounds with TBC1D1: view

Transcripts for TBC1D1 Gene

mRNA/cDNA for TBC1D1 Gene

(23) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(19) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TBC1D1 Gene

TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D1 Gene

No ASD Table

Relevant External Links for TBC1D1 Gene

GeneLoc Exon Structure for
TBC1D1
ECgene alternative splicing isoforms for
TBC1D1

Expression for TBC1D1 Gene

mRNA expression in normal human tissues for TBC1D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TBC1D1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.6), Lymph node (7.6), and CD8 Tcells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D1 Gene



Protein tissue co-expression partners for TBC1D1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TBC1D1 Gene:

TBC1D1

SOURCE GeneReport for Unigene cluster for TBC1D1 Gene:

Hs.176503
genes like me logo Genes that share expression patterns with TBC1D1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBC1D1 Gene

Orthologs for TBC1D1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D1 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia TBC1D1 34 35
  • 88.01 (n)
cow
(Bos Taurus)
Mammalia TBC1D1 34 35
  • 87.58 (n)
mouse
(Mus musculus)
Mammalia Tbc1d1 34 16 35
  • 85.27 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d1 34
  • 83.89 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D1 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D1 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D1 34 35
  • 73.7 (n)
lizard
(Anolis carolinensis)
Reptilia TBC1D1 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d1 34
  • 69.15 (n)
zebrafish
(Danio rerio)
Actinopterygii tbc1d1 34 35
  • 62.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta plx 36 35
  • 36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP5 35
  • 19 (a)
ManyToMany
GYL1 35
  • 18 (a)
ManyToMany
Species where no ortholog for TBC1D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TBC1D1 Gene

ENSEMBL:
Gene Tree for TBC1D1 (if available)
TreeFam:
Gene Tree for TBC1D1 (if available)

Paralogs for TBC1D1 Gene

Paralogs for TBC1D1 Gene

genes like me logo Genes that share paralogs with TBC1D1: view

Variants for TBC1D1 Gene

Sequence variations from dbSNP and Humsavar for TBC1D1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10001208 -- 38,102,407(+) AGGTC(A/G)TATTC intron-variant
rs10001462 -- 38,072,565(+) TGGCT(A/G)GAGAG intron-variant
rs10003312 -- 37,939,174(+) acatc(C/T)tctcc intron-variant
rs10004366 -- 37,941,095(+) aagga(A/G)tggta intron-variant
rs10006938 -- 38,056,070(+) tagaa(C/G)agttc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D1 Gene

Variant ID Type Subtype PubMed ID
dgv9011n54 CNV loss 21841781
esv3600252 CNV loss 21293372
esv991313 CNV insertion 20482838
nsv1009257 CNV gain 25217958
nsv461334 CNV loss 19166990
nsv526805 CNV loss 19592680
nsv593989 CNV loss 21841781
nsv967737 CNV duplication 23825009

Variation tolerance for TBC1D1 Gene

Residual Variation Intolerance Score: 34.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.26; 85.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D1 Gene

Human Gene Mutation Database (HGMD)
TBC1D1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D1 Gene

Disorders for TBC1D1 Gene

Relevant External Links for TBC1D1

Genetic Association Database (GAD)
TBC1D1
Human Genome Epidemiology (HuGE) Navigator
TBC1D1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D1

No disorders were found for TBC1D1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D1 Gene

Publications for TBC1D1 Gene

  1. R125W coding variant in TBC1D1 confers risk for familial obesity and contributes to linkage on chromosome 4p14 in the French population. (PMID: 18325908) Meyre D. … Froguel P. (Hum. Mol. Genet. 2008) 3 4 46 64
  2. The gene encoding TBC1D1 with homology to the tre-2/USP6 oncogene, BUB2, and cdc16 maps to mouse chromosome 5 and human chromosome 4. (PMID: 10965142) White R.A. … Zon L.I. (Cytogenet. Cell Genet. 2000) 2 3 22 64
  3. Crystal structures of human TBC1D1 and TBC1D4 (AS160) RabGTPase- activating protein (RabGAP) domains reveal critical elements for GLUT4 translocation. (PMID: 21454505) Park S.Y. … Shoelson S.E. (J. Biol. Chem. 2011) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for TBC1D1 Gene

Sources for TBC1D1 Gene

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