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TBC1D1 Gene

protein-coding   GIFtS: 64
GCID: GC04P037892

TBC1 (Tre-2/USP6, BUB2, Cdc16) Domain Family, Member 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
TBC1 (Tre-2/USP6, BUB2, Cdc16) Domain Family, Member 11 2
KIAA11083 5
TBC2
TBC12
TBC1 Domain Family Member 12

External Ids:    HGNC: 115781   Entrez Gene: 232162   Ensembl: ENSG000000658827   OMIM: 6098505   UniProtKB: Q86TI03   

Export aliases for TBC1D1 gene to outside databases

Previous GC identifers: GC04P038018 GC04P038181 GC04P037850 GC04P037789 GC04P037716 GC04P037569 GC04P037217


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (tre-2/USP6, BUB2, cdc16) domain family, member 1) is a protein-coding gene. GO annotations related to this gene include Rab GTPase activator activity. An important paralog of this gene is TBC1D12.

UniProtKB/Swiss-Prot: TBCD1_HUMAN, Q86TI0
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 Wiki entry for TBC1D1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_006238.12  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBC1D1 gene promoter:
         AREB6   TBP   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D1 promoter sequence
   Search Chromatin IP Primers for TBC1D1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBC1D1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p14   Ensembl cytogenetic band:  4p14   HGNC cytogenetic band: 4p14

TBC1D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P037892:  view genomic region     (about GC identifiers)

Start:
37,892,708 bp from pter      End:
38,140,796 bp from pter
Size:
248,089 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TBCD1_HUMAN, Q86TI0 (See protein sequence)
Recommended Name: TBC1 domain family member 1  
Size: 1168 amino acids; 133084 Da
Sequence caution: Sequence=BAB55057.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for TBC1D1:
3QYE (3D)    
Secondary accessions: B7Z3D9 E9PGH8 Q96K82 Q9UPP4
Alternative splicing: 2 isoforms:  Q86TI0-1   Q86TI0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBC1D1: NX_Q86TI0

Explore proteomics data for TBC1D1 at MOPED

Post-translational modifications: 

  • Insulin-stimulated phosphorylation by AKT family kinases stimulates SLC2A4/GLUT4 translocation (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TBC1D1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001240841.1  NP_001240842.1  NP_001240843.1  NP_001240844.1  NP_055988.2  

    ENSEMBL proteins: 
     ENSP00000423651   ENSP00000261439   ENSP00000383994   ENSP00000421641   ENSP00000396877  
     ENSP00000425655   ENSP00000397640   ENSP00000410167  
    Reactome Protein details: Q86TI0

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    antibodies-online peptides for TBC1D1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR021785 DUF3350
     IPR000195 Rab-GTPase-TBC_dom
     IPR006020 PTB/PI_dom
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q86TI0

    ProtoNet protein and cluster: Q86TI0

    2 Blocks protein domains:
    IPB000195 RabGAP/TBC domain
    IPB011072 Protein kinase PKN/PRK1


    UniProtKB/Swiss-Prot: TBCD1_HUMAN, Q86TI0
    Similarity: Contains 1 PID domain
    Similarity: Contains 1 Rab-GAP TBC domain


    Find genes that share domains with TBC1D1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBCD1_HUMAN, Q86TI0
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with TBC1D1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for TBC1D1:
     Increased cell death HMECs cel  Synthetic lethal with Ras  Synthetic lethal with c-Myc af 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tbc1d1):
     adipose tissue  cellular  growth/size/body  homeostasis/metabolism  muscle 
     normal 

    Find genes that share phenotypes with TBC1D1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TBC1D1

    miRNA
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    miRTarBase miRNAs that target TBC1D1:
    hsa-mir-7-1-3p (MIRT038677), hsa-mir-193b-3p (MIRT016481), hsa-mir-125a-5p (MIRT045726), hsa-mir-125b-5p (MIRT006523)

    Block miRNA regulation of human, mouse, rat TBC1D1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBC1D1 (see all 22):
    hsa-miR-125a-5p hsa-miR-137 hsa-miR-181c hsa-miR-4251 hsa-miR-124 hsa-miR-125b hsa-miR-2276 hsa-miR-3116
    SwitchGear 3'UTR luciferase reporter plasmidTBC1D1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat TBC1D1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TBCD1_HUMAN, Q86TI0: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with TBC1D1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TBC1D1 About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Membrane Trafficking0.32
    Translocation of GLUT4 to the Plasma Membrane0.32
    2Glucose / Energy Metabolism
    Glucose / Energy Metabolism


    Find genes that share SuperPaths with TBC1D1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for TBC1D1
        Glucose / Energy Metabolism

    1 Reactome Pathway for TBC1D1
        Translocation of GLUT4 to the plasma membrane


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBC1D1
    Interactions:

        GeneGlobe Interaction Network for TBC1D1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TBC1D1 (Q86TI02, 3 ENSP000002614394) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAGP619812, 3, ENSP000003063304MINT-50868 I2D: score=3 STRING: ENSP00000306330
    SMAD2Q157962, 3MINT-61619 I2D: score=3 
    YWHAHQ049173, ENSP000002489754I2D: score=1 STRING: ENSP00000248975
    UBE2E2Q96LR53, ENSP000003799314I2D: score=1 STRING: ENSP00000379931
    PRKAA2ENSP000003602904STRING: ENSP00000360290
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032313regulation of Rab GTPase activity ----
    GO:0032880regulation of protein localization IEA--
    GO:0061024membrane organization TAS--

    Find genes that share ontologies with TBC1D1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TBC1D1 (TBCD1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TBC1D1 gene (5 alternative transcripts): 
    NM_001253912.1  NM_001253913.1  NM_001253914.1  NM_001253915.1  NM_015173.3  

    Unigene Cluster for TBC1D1:

    TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
    Hs.176503  [show with all ESTs]
    Unigene Representative Sequence: NM_015173
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000508802 ENST00000261439(uc003gtb.3 uc011byd.2 uc010ifd.3)
    ENST00000402522 ENST00000510573 ENST00000446803(uc011byf.1) ENST00000491553
    ENST00000513936 ENST00000509761 ENST00000443855 ENST00000421339 ENST00000469803
    ENST00000511238 ENST00000401554 ENST00000407365(uc021xnh.1 uc021xni.1 uc003gtd.3)
    ENST00000475531 ENST00000406664 ENST00000405444 ENST00000492180
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    Selected qRT-PCR Assays for microRNAs that regulate TBC1D1 (see all 22):
    hsa-miR-125a-5p hsa-miR-137 hsa-miR-181c hsa-miR-4251 hsa-miR-124 hsa-miR-125b hsa-miR-2276 hsa-miR-3116
    SwitchGear 3'UTR luciferase reporter plasmidTBC1D1 3' UTR sequence
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat TBC1D1
      QuantiFast Probe-based Assays in human, mouse, rat TBC1D1

    Additional mRNA sequence: 

    AB029031.1 AB449881.1 AK027355.1 AK057182.1 AK074954.1 AK295746.1 AK303574.1 BC014529.2 
    BC028196.1 BC029950.1 BC032337.1 BC050321.1 BC053648.1 

    Selected DOTS entries (see all 28):

    DT.456184  DT.100809970  DT.101970788  DT.100809978  DT.101984031  DT.411256  DT.87014296  DT.92445776 
    DT.92445771  DT.95328117  DT.95213176  DT.95326624  DT.100809971  DT.121250835  DT.91676530  DT.95326619 
    DT.95326622  DT.95326623  DT.95326629  DT.121250938  DT.121251039  DT.210960  DT.40196848  DT.92020137 

    1 AceView cDNA sequence:

    AA634822 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TBC1D1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCCAGTGTT
    TBC1D1 Expression
    About this image

    TBC1D1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBC1D1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.176503
        Custom PCR Arrays for TBC1D1
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TBC1D1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbc1d11 , 5 TBC1 domain family, member 11, 5 85.27(n)1
    91.11(a)1
      5 (32.80 cM)5
    579151  NM_019636.21  NP_062610.21 
     641594515 
    chicken
    (Gallus gallus)
    Aves TBC1D11 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member more 73.7(n)
    77.84(a)
      426162  NM_001267573.1  NP_001254502.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D16
    TBC1 (tre-2/USP6, BUB2, cdc16) domain family, memb...
    68(a)
    1 ↔ 1
    GL343361.1(430750-535565)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tbc1d11 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member more 69.15(n)
    71.94(a)
      733547  XM_004910932.1  XP_004910989.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbc1d11 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member more 62.07(n)
    62.96(a)
      561193  XM_005168369.1  XP_005168426.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta plx3   -- 36(a)   83C1   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GYP56
    GYL16
    GTPase-activating protein (GAP) for yeast Rab fami...
    Putative GTPase activating protein (GAP) with a ro...
    19(a)
    18(a)
    many ↔ many
    many ↔ many
    XVI(76669-79353) YPL249C
    XIII(647118-649280) YMR192W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBC1D1 gene
    TBC1D122  TBC1D42  TBC1D142  RABGAP1L2  EVI52  EVI5L2  RABGAP12  
    4 SIMAP similar genes for TBC1D1 using alignment to 11 protein entries:     TBCD1_HUMAN (see all proteins):
    TBC1D4    EVI5    SGSM3    FLJ00288

    Find genes that share paralogs with TBC1D1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TBC1D1 (see all 5054)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1135084601,2
    C--37379045(+) ACACA-/CGCGCGC
    GCGCGCGCG
    CACAC
    2 -- int11Minor allele frequency- CGCGCGCGCGCGCGCG:0.00CSA 2
    rs578040211,2
    C--37825745(+) ACACA-/CACA  
      CACACA
    GTAGA
    2 -- int11Minor allele frequency- CACACACACA:0.00NA 2
    rs1434050671,2
    C--37890708(+) AACTAC/TTCAAT 2 -- us2k10--------
    rs1920473151,2
    --37890744(+) CAGTGA/GCCAGA 2 -- us2k10--------
    rs1483649311,2
    --37890905(+) GGACAA/GTATCT 2 -- us2k10--------
    rs1840305961,2
    --37891027(+) CCTGGA/GTGTAA 2 -- us2k10--------
    rs1876431961,2
    --37891033(+) TGTAAA/GCATCC 2 -- us2k10--------
    rs1921820731,2
    --37891149(+) CCTCTA/GTTTGC 2 -- us2k10--------
    rs1843556661,2
    --37891213(+) GTACGA/TCTGTG 2 -- us2k10--------
    rs1415271701,2
    C--37891415(+) TCCACC/GCCCAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TBC1D1 (37892708 - 38140796 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TBC1D1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv991313CNV Insertion20482838
    nsv461334CNV Loss19166990
    nsv878936CNV Loss21882294
    nsv526805CNV Loss19592680
    nsv878935CNV Gain21882294

    Human Gene Mutation Database (HGMD): TBC1D1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBC1D1
    DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609850    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for TBC1D1:
    Morbid obesity

    Find genes that share disorders with TBC1D1           About GenesLikeMe

    Genetic Association Database (GAD): TBC1D1
    Human Genome Epidemiology (HuGE) Navigator: TBC1D1 (8 documents)

    Export disorders for TBC1D1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TBC1D1 gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with TBC1D1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. R125W coding variant in TBC1D1 confers risk for familial obesity and contributes to linkage on chromosome 4p14 in the French population. (PubMed id 18325908)1, 2, 4 Meyre D.... Froguel P. (Hum. Mol. Genet. 2008)
    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. (PubMed id 10965142)1, 3, 9 White R.A....Zon L.I. (Cytogenet. Cell Genet. 2000)
    3. Crystal structures of human TBC1D1 and TBC1D4 (AS160) RabGTPase- activating protein (RabGAP) domains reveal critical elements for GLUT4 translocation. (PubMed id 21454505)1, 2 Park S.Y.... Shoelson S.E. (J. Biol. Chem. 2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    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. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Common variations in 4p locus are related to male completed suicide. (PubMed id 19115052)1, 4 Must A....VAoli M. (Neuromolecular Med. 2009)
    7. Inhibition of GLUT4 translocation by Tbc1d1, a Rab GTPase-activating protein abundant in skeletal muscle, is partially relieved by AMP-activated protein kinase activation. (PubMed id 18258599)1, 3 Chavez J.A....Lienhard G.E. (J. Biol. Chem. 2008)
    8. TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition. (PubMed id 16893906)1, 2 Stone S.... Shattuck D. (Hum. Mol. Genet. 2006)
    9. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23216 HGNC: 11578 AceView: TBC1D1.17 Ensembl:ENSG00000065882 euGenes: HUgn23216
    ECgene: TBC1D1 H-InvDB: TBC1D1

    (According to HUGE)
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    HUGE: KIAA1108

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TBC1D1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TBC1D1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TBC1D1 gene:
    Search GeneIP for patents involving TBC1D1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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