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TBL1XR1 Gene

protein-coding   GIFtS: 56
GCID: GC03M176737

Transducin (Beta)-Like 1 X-Linked Receptor 1

(Previous name: transducin (beta)-like 1X-linked receptor 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
Transducin (Beta)-Like 1 X-Linked Receptor 11 2     C212 5
IRA12 3 5     Transducin (Beta)-Like 1X-Linked Receptor 11
TBLR12 3 5     DC422
Nuclear Receptor Corepressor/HDAC3 Complex Subunit TBLR12 3     F-Box-Like/WD Repeat-Containing Protein TBL1XR12
Transducin Beta-Like 1X-Related Protein 12 3     Nuclear Receptor Co-Repressor/HDAC3 Complex Subunit2
TBL1-Related Protein 12 3     

External Ids:    HGNC: 295291   Entrez Gene: 797182   Ensembl: ENSG000001775657   OMIM: 6086285   UniProtKB: Q9BZK73   

Export aliases for TBL1XR1 gene to outside databases

Previous GC identifers: GC03M178221 GC03M174119


(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 TBL1XR1 Gene:
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein
family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed
that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal
transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role
in the control of cytotypic differentiation. (provided by RefSeq, Jul 2008)

GeneCards Summary for TBL1XR1 Gene:
TBL1XR1 (transducin (beta)-like 1 X-linked receptor 1) is a protein-coding gene. GO annotations related to this gene include transcription corepressor activity and protein N-terminus binding. An important paralog of this gene is TBL1Y.

UniProtKB/Swiss-Prot: TBL1R_HUMAN, Q9BZK7
Function: F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear
receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear
receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of
the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing
cofactor exchange, and transcription activation

Gene Wiki entry for TBL1XR1 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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Regulatory elements:
   Regulatory transcription factor binding sites in the TBL1XR1 gene promoter:
         C/EBPbeta   NF-YA   NF-kappaB   NF-YB   CBF-A   CBF-B   CP1A   NF-kappaB1   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBL1XR1 promoter sequence
   Search Chromatin IP Primers for TBL1XR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBL1XR1


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

Entrez Gene cytogenetic band: 3q26.32   Ensembl cytogenetic band:  3q26.32   HGNC cytogenetic band: 3q26.33

TBL1XR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBL1XR1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M176737:  view genomic region     (about GC identifiers)

Start:
176,737,143 bp from pter      End:
176,915,261 bp from pter
Size:
178,119 bases      Orientation:
minus 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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TBL1R_HUMAN, Q9BZK7 (See protein sequence)
Recommended Name: F-box-like/WD repeat-containing protein TBL1XR1  
Size: 514 amino acids; 55595 Da
Subunit: Component of the N-Cor repressor complex, at least composed of NCOR1, NCOR2, HDAC3, TBL1X, TBL1XR1,
CORO2A and GPS2. Probable component of some E3 ubiquitin ligase complex. Interacts with histones H2B and H4
Sequence caution: Sequence=AAH60320.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
Secondary accessions: D3DNQ9 Q14DC3 Q9H2I1 Q9H9A1

Explore the universe of human proteins at neXtProt for TBL1XR1: NX_Q9BZK7

Explore proteomics data for TBL1XR1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys102, Lys379
  • Modification sites at PhosphoSitePlus

  • See TBL1XR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_078941.2  
    ENSEMBL proteins: 
     ENSP00000405574   ENSP00000413251   ENSP00000391559   ENSP00000404863   ENSP00000392180  
     ENSP00000402402   ENSP00000263964   ENSP00000406297   ENSP00000397450   ENSP00000398477  
     ENSP00000396120   ENSP00000387849   ENSP00000401044   ENSP00000415506  
    Reactome Protein details: Q9BZK7

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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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    HGNC Gene Families:
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 7):
     IPR013720 LisH_dimerisation_subgr
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep
     IPR017986 WD40_repeat_dom

    Graphical View of Domain Structure for InterPro Entry Q9BZK7

    ProtoNet protein and cluster: Q9BZK7

    1 Blocks protein domain: IPB006594 Lissencephaly type-1-like homology motif

    UniProtKB/Swiss-Prot: TBL1R_HUMAN, Q9BZK7
    Domain: The F-box-like domain is related to the F-box domain, and apparently displays the same function as
    component of ubiquitin E3 ligase complexes (By similarity)
    Similarity: Belongs to the WD repeat EBI family
    Similarity: Contains 1 F-box-like domain
    Similarity: Contains 1 LisH domain
    Similarity: Contains 8 WD repeats


    Find genes that share domains with TBL1XR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: TBL1R_HUMAN, Q9BZK7
    Function: F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear
    receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear
    receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of
    the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing
    cofactor exchange, and transcription activation

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003714transcription corepressor activity IGI15601853
    GO:0005515protein binding IPI12628926
    GO:0008013beta-catenin binding IPI18193033
    GO:0042393histone binding IDA15601853
         
    Find genes that share ontologies with TBL1XR1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TBL1XR1:
     Decreased viability with pacli 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tbl1xr1):
     adipose tissue  growth/size/body  homeostasis/metabolism  liver/biliary system 

    Find genes that share phenotypes with TBL1XR1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TBL1XR1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBL1XR1
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    miRNA
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    hsa-mir-122-5p (MIRT023246), hsa-mir-30c-5p (MIRT047851), hsa-mir-148b-3p (MIRT019306), hsa-mir-21-5p (MIRT030705)

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    Selected qRT-PCR Assays for microRNAs that regulate TBL1XR1 (see all 114):
    hsa-miR-607 hsa-miR-520f hsa-miR-193a-3p hsa-miR-376b hsa-miR-15a hsa-miR-4274 hsa-miR-29a* hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidTBL1XR1 3' UTR sequence
    Inhib. RNA
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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
    TBL1R_HUMAN, Q9BZK7: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol2
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000118colocalizes with histone deacetylase complex IDA18326024
    GO:0005634nucleus IDA18193033
    GO:0005654nucleoplasm TAS--
    GO:0005876spindle microtubule IDA18326024
    GO:0017053transcriptional repressor complex IDA12628926

    Find genes that share ontologies with TBL1XR1           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 TBL1XR1 About   (see all 12)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 in Cancer0.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    Signaling by NOTCH10.79
    NOTCH1 Intracellular Domain Regulates Transcription0.68
    2Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    Transcriptional Regulation of White Adipocyte Differentiation0.38
    3Circadian Repression of Expression by REV-ERBA
    Circadian Repression of Expression by REV-ERBA0.88
    YAP1- and WWTR1 (TAZ)-stimulated gene expression0.40
    RORA Activates Circadian Expression0.88
    4Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    Activation of Gene Expression by SREBP (SREBF)0.75
    5Circadian Clock
    Circadian Clock0.66
    BMAL1-CLOCK/NPAS2 Activates Circadian Expression0.66


    Find genes that share SuperPaths with TBL1XR1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TBL1XR1
        Regulation of Wnt-mediated beta catenin signaling and target gene transcription

    Selected Reactome Pathways for TBL1XR1 (see all 13)
        NOTCH1 Intracellular Domain Regulates Transcription
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    Transcriptional regulation of white adipocyte differentiation
    Circadian Clock
    Transcriptional activation of mitochondrial biogenesis


    1 Kegg Pathway  (Kegg details for TBL1XR1):
        Wnt signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBL1XR1
    Interactions:

        GeneGlobe Interaction Network for TBL1XR1

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

    Selected Interacting proteins for TBL1XR1 (Q9BZK72, 3 ENSP000004055744) via UniProtKB, MINT, STRING, and/or I2D (see all 1105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=5 STRING: ENSP00000352980
    HIST2H4AP628053, ENSP000003581624I2D: score=5 STRING: ENSP00000358162
    HIST1H4BP628053I2D: score=5 
    HIST1H4CP628053I2D: score=5 
    HIST1H4DP628053I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA12628926
    GO:0006351transcription, DNA-templated IEA--
    GO:0007219Notch signaling pathway TAS--
    GO:0016568chromatin modification IEA--
    GO:0043161proteasome-mediated ubiquitin-dependent protein catabolic process ISS--

    Find genes that share ontologies with TBL1XR1           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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for TBL1XR1 (TBL1R)



    (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 TBL1XR1 gene: 
    NM_024665.4  

    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000430069(uc003fiw.4 uc003fix.4 uc011bpz.2) ENST00000474363
    ENST00000457928(uc003fiy.2) ENST00000428970 ENST00000424913 ENST00000437738
    ENST00000431421 ENST00000352800 ENST00000450267 ENST00000431674 ENST00000422066
    ENST00000443315 ENST00000422442 ENST00000427349 ENST00000413084 ENST00000491623

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    Selected qRT-PCR Assays for microRNAs that regulate TBL1XR1 (see all 114):
    hsa-miR-607 hsa-miR-520f hsa-miR-193a-3p hsa-miR-376b hsa-miR-15a hsa-miR-4274 hsa-miR-29a* hsa-miR-200b
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      QuantiTect SYBR Green Assays in human, mouse, rat TBL1XR1
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    Selected AceView cDNA sequences (see all 445):

    BM801254 BU677455 AA402444 AA171704 BQ230237 F11830 W74440 T16609 
    BM978779 AW131635 AI753129 AL700168 BU740501 BM129700 AW264574 AA855107 
    BM802591 AA361203 BE550515 CA422397 AI348676 AA314311 BM971481 AI819853 

    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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    TBL1XR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAATTACAC
    TBL1XR1 Expression
    About this image


    TBL1XR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Thymus (Hematopoietic System)
             Thymus
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    TBL1XR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBL1XR1 Protein Expression

    UniProtKB/Swiss-Prot: TBL1R_HUMAN, Q9BZK7
    Tissue specificity: Ubiquitous

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBL1XR1

    (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)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TBL1XR1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbl1xr11 , 5 transducin (beta)-like 1X-linked receptor 11, 5 91.25(n)1
    99.03(a)1
      3 (7.58 cM)5
    810041  NM_030732.31  NP_109657.21 
     220766525 
    chicken
    (Gallus gallus)
    Aves TBL1XR11 transducin (beta)-like 1 X-linked receptor 1 87.76(n)
    98.3(a)
      426284  NM_001031369.1  NP_001026540.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBL1XR16
    transducin (beta)-like 1 X-linked receptor 1
    99(a)
    1 ↔ 1
    3(3268852-3414247)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3986082 nuclear receptor co-repressor complex subunit TBLR1 84.68(n)    AY225088.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636172 hypothetical protein MGC63617 80.25(n)   393581  BC056790.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ebi6
    ebi
    54(a)
    1 → many
    2L(415067-418536)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SIF2(YBR103W)4 WD40 repeat-containing subunit of the Set3C histone more   --   2(447709-449316) 852399  NP_009661.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HOS151 HOS15 59.73(n)
    58.85(a)
      836867  NM_126132.4  NP_201533.1 
    rice
    (Oryza sativa)
    Liliopsida Os.195222 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.59(n)    AK111882.1 


    ENSEMBL Gene Tree for TBL1XR1 (if available)
    TreeFam Gene Tree for TBL1XR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBL1XR1 gene
    TBL1Y2  THOC32  TBL1X2  
    4 SIMAP similar genes for TBL1XR1 using alignment to 13 protein entries:     TBL1R_HUMAN (see all proteins):
    TBL1X    TBL1Y    WDR83    WDR5

    Find genes that share paralogs with TBL1XR1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for TBL1XR1
    PGOHUM00000243356 PGOHUM00000243771


    (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 TBL1XR1 (see all 3772)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2013712421,2
    --176738057(+) TCTTT-/GTTCAG 1 -- ds50010--------
    rs76126991,2
    C--176738058(+) TCTTTG/TTCAGC 1 -- ds50010--------
    rs76451161,2
    C,A--176738060(+) TTTTTC/TAGCTT 1 -- ds50014Minor allele frequency- T:0.45WA NA EA 360
    rs2014272511,2
    --176738060(+) TTTTT-/CAGCTT 1 -- ds50010--------
    rs1392713131,2
    --176738078(+) ATAACA/GTCTTT 1 -- ds50010--------
    rs1823100511,2
    --176738278(+) AATACA/GTTTAT 1 -- ds50010--------
    rs1863029621,2
    --176738343(+) GGAGAC/GAATGA 1 -- ds50010--------
    rs1136566301,2
    C,F--176738357(+) TGTTAC/TAGGTT 1 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1143811971,2
    C,F--176738397(+) TTCTAC/TAATAG 1 -- ds50012Minor allele frequency- T:0.06WA NA 238
    rs713040391,2
    C,F--176738412(+) CTGGAG/CAAGTA 1 -- ds50013Minor allele frequency- C:0.05NA 124

    HapMap Linkage Disequilibrium report for TBL1XR1 (176737143 - 176915261 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for TBL1XR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726237CNV Deletion23290073
    esv272577CNV Insertion20981092
    nsv878034CNV Loss21882294
    esv29448CNV Loss19812545
    nsv878033CNV Loss21882294
    nsv829803CNV Gain17160897
    nsv518453CNV Gain19592680
    nsv7356OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): TBL1XR1
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing TBL1XR1:
    Ovarian Cancer
    SeqTarget long-range PCR primers for resequencing TBL1XR1
    DNA2.0 Custom Variant and Variant Library Synthesis for TBL1XR1

    (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: 608628    OMIM disorders: --


    Find genes that share disorders with TBL1XR1           About GenesLikeMe

    Genetic Association Database (GAD): TBL1XR1
    Human Genome Epidemiology (HuGE) Navigator: TBL1XR1 (1 document)

    Export disorders for TBL1XR1 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 TBL1XR1 gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with TBL1XR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The N-CoR-HDAC3 nuclear receptor corepressor complex inhibits the JNK pathway through the integral subunit GPS2. (PubMed id 11931768)1, 2, 3 Zhang J.... Roeder R.G. (Mol. Cell 2002)
    2. Identification of four human cDNAs that are differentially expressed by early hematopoietic progenitors. (PubMed id 11063877)1, 2, 3 Zhang X.... Basch R.S. (Exp. Hematol. 2000)
    3. Purification and functional characterization of the human N-CoR complex: the roles of HDAC3, TBL1 and TBLR1. (PubMed id 12628926)1, 2, 9 Yoon H.-G....Wong J. (EMBO J. 2003)
    4. A corepressor/coactivator exchange complex required for transcriptional activation by nuclear receptors and other regulated transcription factors. (PubMed id 14980219)1, 2, 9 Perissi V.... Rosenfeld M.G. (Cell 2004)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. TBLR1 regulates the expression of nuclear hormone receptor co-repressors. (PubMed id 16893456)1, 9 Zhang X.M....Basch R.S. (BMC Cell Biol. 2006)
    9. Function of multiple Lis-Homology domain/WD-40 repeat-containing proteins in feed-forward transcriptional repression by silencing mediator for retinoic and thyroid receptor/nuclear receptor corepressor complexes. (PubMed id 18202150)1, 9 Choi H.K....Yoon H.G. (Mol. Endocrinol. 2008)
    10. TBL1 and TBLR1 phosphorylation on regulated gene promoters overcomes dual CtBP and NCoR/SMRT transcriptional repression checkpoints. (PubMed id 18374649)1, 9 Perissi V....Rosenfeld M.G. (Mol. Cell 2008)

    (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: 79718 HGNC: 29529 AceView: TBL1XR1 Ensembl:ENSG00000177565 euGenes: HUgn79718
    ECgene: TBL1XR1 Kegg: 79718 H-InvDB: TBL1XR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TBL1XR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for TBL1XR1 gene:
    Search GeneIP for patents involving TBL1XR1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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