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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. Diseases associated with TBC1D1 include Warburg Micro Syndrome 1. Among its related pathways are Vesicle-mediated transport and AMP-activated Protein Kinase (AMPK) Signaling. Gene Ontology (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

Additional gene information for TBC1D1 Gene

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

Genomics for TBC1D1 Gene

GeneHancer (GH) Regulatory Elements for TBC1D1 Gene

Promoters and enhancers for TBC1D1 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
GH04I037889 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 558.4 +0.8 756 4 NFXL1 BATF IRF4 ZNF48 RAD21 YY1 ZNF366 SCRT2 ZNF143 ATF7 TBC1D1 RELL1 LOC105374407
GH04I037975 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 20.7 +86.9 86931 4.3 ATF1 ARID4B SIN3A ZNF48 YY1 ZNF121 GLIS2 E2F8 ZNF207 ZNF143 TBC1D1 PTTG2 GC04P037993
GH04I037987 Enhancer 1 Ensembl ENCODE dbSUPER 35.3 +99.0 98974 4.7 SMARCE1 NFIB MAX DPF2 REST SP1 CTBP1 ZNF316 GATA3 NFE2 TBC1D1 PGM2 GC04P037993 PTTG2
GH04I038002 Enhancer 1 Ensembl ENCODE dbSUPER 28.2 +112.3 112316 2 CAVIN1 NR4A1 BACH1 ATF2 ZNF354B ZNF592 ZNF121 IRF9 ATF4 ID3 TBC1D1 PGM2 MRPS33P2 PSME2P4
GH04I037981 Enhancer 0.8 Ensembl ENCODE dbSUPER 34.6 +91.4 91416 2.7 GATA3 FOXA2 FOXA1 TBC1D1 PGM2 RELL1 GC04P037993 PTTG2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBC1D1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for TBC1D1 Gene

Genomic Locations for TBC1D1 Gene
chr4:37,891,084-38,139,175
(GRCh38/hg38)
Size:
248,092 bases
Orientation:
Plus strand
chr4:37,892,708-38,140,796
(GRCh37/hg19)

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

No data available for DME Specific Peptides for TBC1D1 Gene

Domains & Families for TBC1D1 Gene

Gene Families for TBC1D1 Gene

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

Suggested Antigen Peptide Sequences for TBC1D1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for TBC1D1 Gene

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:

Clone 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
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 TBC1D1 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

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

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 121
Olanzapine Approved, Investigational Pharma Antagonist 408
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 :
(2) 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for TBC1D1 Gene

  • Nervous system(4.6)
  • Liver(4.2)
  • Kidney(3.1)
  • Muscle(3.1)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with TBC1D1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia TBC1D1 33 34
  • 88.01 (n)
cow
(Bos Taurus)
Mammalia TBC1D1 33 34
  • 87.58 (n)
mouse
(Mus musculus)
Mammalia Tbc1d1 33 16 34
  • 85.27 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d1 33
  • 83.89 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D1 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D1 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D1 33 34
  • 73.7 (n)
lizard
(Anolis carolinensis)
Reptilia TBC1D1 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d1 33
  • 69.15 (n)
zebrafish
(Danio rerio)
Actinopterygii tbc1d1 33 34
  • 62.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta plx 35 34
  • 36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP5 34
  • 19 (a)
ManyToMany
GYL1 34
  • 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

Variants for TBC1D1 Gene

Sequence variations from dbSNP and Humsavar for TBC1D1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000009219 -- 37,974,365(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000030671 -- 37,980,048(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000036706 -- 37,980,505(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000037923 -- 37,928,987(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000057466 -- 38,016,452(+) C/T genic_upstream_transcript_variant, 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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for TBC1D1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
warburg micro syndrome 1
  • warbm1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TBC1D1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TBC1D1: view

No data available for 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 (Human molecular genetics 2008) 3 4 44 58
  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 RA … Zon LI (Cytogenetics and cell genetics 2000) 2 3 22 58
  3. Crystal structures of human TBC1D1 and TBC1D4 (AS160) RabGTPase-activating protein (RabGAP) domains reveal critical elements for GLUT4 translocation. (PMID: 21454505) Park SY … Shoelson SE (The Journal of biological chemistry 2011) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for TBC1D1 Gene

Sources for TBC1D1 Gene

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