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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 Glucose / Energy Metabolism and Translocation of GLUT4 to the plasma membrane. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is EVI5L.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around TBC1D1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TBC1D1 gene promoter:

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

Proteomics data for TBC1D1 Gene at MOPED

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

  • Santa Cruz Biotechnology (SCBT) Antibodies for TBC1D1

No data available for DME Specific Peptides for TBC1D1 Gene

Domains & Families for TBC1D1 Gene

Protein Domains 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: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 Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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: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:0032880 regulation of protein localization IEA --
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, Dopamine antagonist with some D4 selectivity. Also 5-HT2A/2C antagonist 113
Olanzapine Approved, Investigational Pharma Antagonist 380
genes like me logo Genes that share compounds with TBC1D1: view

Transcripts for TBC1D1 Gene

mRNA/cDNA for TBC1D1 Gene

(21) 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:

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, MOPED, and MaxQB for TBC1D1 Gene



SOURCE GeneReport for Unigene cluster for TBC1D1 Gene Hs.176503

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

Protein tissue co-expression partners for TBC1D1 Gene

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
cow
(Bos Taurus)
Mammalia TBC1D1 35
  • 87.58 (n)
  • 90.9 (a)
TBC1D1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D1 35
  • 88.01 (n)
  • 90.58 (a)
TBC1D1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d1 35
  • 85.27 (n)
  • 91.11 (a)
Tbc1d1 16
Tbc1d1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TBC1D1 35
  • 99.66 (n)
  • 99.4 (a)
TBC1D1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d1 35
  • 83.89 (n)
  • 88.52 (a)
oppossum
(Monodelphis domestica)
Mammalia TBC1D1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D1 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D1 35
  • 73.7 (n)
  • 77.84 (a)
TBC1D1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d1 35
  • 69.15 (n)
  • 71.94 (a)
zebrafish
(Danio rerio)
Actinopterygii tbc1d1 35
  • 62.07 (n)
  • 62.96 (a)
tbc1d1 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta plx 37
  • 36 (a)
plx 36
  • 24 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYL1 36
  • 18 (a)
ManyToMany
GYP5 36
  • 19 (a)
ManyToMany
Species with no ortholog for TBC1D1:
  • 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
rs2279027 - 37,902,135(-) GTTAG(A/G)AAGCA reference, missense
rs4008480 - 37,902,259(-) TTCTG(A/G)TGGAC reference, missense
rs10501 - 38,014,774(+) GCCTG(G/T)GCGCA reference, missense
rs7677030 - 38,089,935(+) AGATT(A/C)TTCAG reference, missense
rs13110318 - 38,137,235(+) GGAGC(A/G/T)GTCGG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv878935 CNV Gain 21882294
nsv526805 CNV Loss 19592680
esv991313 CNV Insertion 20482838
nsv461334 CNV Loss 19166990
nsv878936 CNV Loss 21882294

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

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 48 67
  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 23
  3. Inhibition of GLUT4 translocation by Tbc1d1, a Rab GTPase-activating protein abundant in skeletal muscle, is partially relieved by AMP-activated protein kinase activation. (PMID: 18258599) Chavez J.A. … Lienhard G.E. (J. Biol. Chem. 2008) 2 3
  4. Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. (PMID: 23850713) Yang S.K. … Song K. (Gut 2014) 3
  5. Expression, phosphorylation and function of the Rab-GTPase activating protein TBC1D1 in pancreatic beta-cells. (PMID: 24239544) RA1tti S. … Bouzakri K. (FEBS Lett. 2014) 3

Products for TBC1D1 Gene

Sources for TBC1D1 Gene

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