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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TBL1XR1 Gene

protein-coding   GIFtS: 58
GCID: GC03M176737

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

(Previous name: transducin (beta)-like 1X-linked receptor 1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transducin (Beta)-Like 1 X-Linked Receptor 11 2     Transducin (Beta)-Like 1X-Linked Receptor 11
Nuclear Receptor Corepressor/HDAC3 Complex Subunit TBLR12 3     C212
Transducin Beta-Like 1X-Related Protein 12 3     DC422
IRA12 3     F-Box-Like/WD Repeat-Containing Protein TBL1XR12
TBLR12 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with TBL1XR1 include estrogen-receptor negative breast cancer, and lung squamous cell carcinoma, and among its related super-pathways are Constitutive Signaling by NOTCH1 PEST Domain Mutants and Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TBL1XR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus (Probable)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BZK7

  • TBL1XR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBL1XR1 Protein Expression
    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
    Human Recombinant Protein Products for TBL1XR1: 
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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000118colocalizes with histone deacetylase complex IDA18326024
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005876spindle microtubule IDA18326024

    TBL1XR1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    WDR: WD repeat domain containing

    5/7 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


    TBL1XR1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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
         
    TBL1XR1 for ontologies           About GeneDecksing


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

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBL1XR1 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TBL1XR1 About   (see all 7)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.89
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.89
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH10.79
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH0.74
    2Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.74
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4Signaling by GPCR
    Signal Transduction0.55
    5Wnt signaling pathway
    Wnt signaling pathway0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    5/17        Reactome Pathways for TBL1XR1 (see all 17)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    FBXW7 Mutants and NOTCH1 in Cancer
    Metabolism
    Signaling by NOTCH1 HD Domain Mutants in Cancer


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


    TBL1XR1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TBL1XR1

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

    5/1009 Interacting proteins for TBL1XR1 (Q9BZK72, 3 ENSP000004055744) via UniProtKB, MINT, STRING, and/or I2D (see all 1009)
    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): 5/11 biological process terms (GO ID links to tree view) (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-dependent IEA--
    GO:0007219Notch signaling pathway TAS--
    GO:0016568chromatin modification IEA--
    GO:0043161proteasomal ubiquitin-dependent protein catabolic process ISS--

    TBL1XR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBL1XR1 (TBL1R)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TBL1XR1 gene: 
    NM_024665.4  

    Unigene Cluster for TBL1XR1:

    Transducin (beta)-like 1 X-linked receptor 1
    Hs.715026  [show with all ESTs]
    Unigene Representative Sequence: BX648935
    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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    Additional mRNA sequence: 

    AF086399.1 AF267864.1 AF268193.1 AF268194.1 AF314544.1 AK022956.1 AK025746.1 AK296946.1 
    BC034712.1 BC048298.1 BC060320.1 BC070134.1 BC092400.1 BC113421.1 BX640629.1 BX641010.1 
    BX648080.1 BX648935.1 

    22 DOTS entries:

    DT.97766289  DT.217020  DT.95153832  DT.100653900  DT.95153836  DT.95097854  DT.120906951  DT.95153842 
    DT.120906897  DT.120907020  DT.120907053  DT.120907068  DT.91710385  DT.95153847  DT.120906905  DT.120906986 
    DT.95153849  DT.99970710  DT.100836177  DT.100876486  DT.120906969  DT.95180576 

    24/445 AceView cDNA sequences (see all 445):

    F09478 AF314544 BQ893171 W74440 BM129414 AW627976 W79085 AI749288 
    AW305033 AI923627 BF509887 AA804479 AW069598 AI348676 AA287499 BM141685 
    CA422397 AA314311 BQ220991 AA677564 AI433493 BM971481 T35673 AW243718 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TBL1XR1 expression in normal human tissues (normalized intensities)      TBL1XR1 embryonic expression: see
    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 
     5/37 selected tissues (see all 37) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             posterior singulate   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See TBL1XR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBL1XR1

    SOURCE GeneReport for Unigene cluster: Hs.715026

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

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TBL1XR1 gene from 9/19 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 88.39(n)
    99.15(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
    52(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 WD-40 repeat family protein 61.68(n)
    61.02(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)
    About This Section
    Paralogs for TBL1XR1 gene
    TBL1Y2  WDR172  TBL1X2  
    4 SIMAP similar genes for TBL1XR1 using alignment to 13 protein entries:     TBL1R_HUMAN (see all proteins):
    TBL1X    TBL1Y    WDR83    WDR5

    TBL1XR1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3772 SNPs in TBL1XR1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608628    OMIM disorders: --

    15 diseases for TBL1XR1:    About MalaCards
    estrogen-receptor negative breast cancer    lung squamous cell carcinoma    lissencephaly    neurofibromatosis
    polycystic ovary syndrome    squamous cell carcinoma    esophageal squamous cell carcinoma    non-hodgkin lymphoma
    acute lymphoblastic leukemia    lymphoblastic leukemia    hodgkin's lymphoma    esophagitis
    breast cancer    thyroiditis    leukemia


    TBL1XR1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for TBL1XR1 gene, integrated from 9 sources (see all 50):
    (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. (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. (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. (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. (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. (2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    8. TBLR1 regulates the expression of nuclear hormone receptor co-repressors. (PubMed id 16893456)1, 9 Zhang X.M....Basch R.S. (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. (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. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 79718 HGNC: 29529 AceView: TBL1XR1 Ensembl:ENSG00000177565 euGenes: HUgn79718
    ECgene: TBL1XR1 Kegg: 79718 H-InvDB: TBL1XR1

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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