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TBL1X Gene

protein-coding   GIFtS: 57
GCID: GC0XP009431

Transducin (Beta)-Like 1X-Linked

(Previous name: transducin (beta)-like 1)
(Previous symbol: TBL1)
  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)
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Aliases
Transducin (Beta)-Like 1X-Linked1 2     SMAP552 3
TBL11 2 3 5     Transducin (Beta)-Like 11
Transducin Beta-Like Protein 1X2 3     EBI2
Transducin-Beta-Like Protein 1, X-Linked2 3     F-Box-Like/WD Repeat-Containing Protein TBL1X2

External Ids:    HGNC: 115851   Entrez Gene: 69072   Ensembl: ENSG000001018497   OMIM: 3001965   UniProtKB: O609073   

Export aliases for TBL1X gene to outside databases

Previous GC identifers: GC0XP008459 GC0XP008247 GC0XP008777 GC0XP008844 GC0XP009242 GC0XP009391 GC0XP007267


(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 TBL1X 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. This encoded protein is found as a subunit in corepressor SMRT
(silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This
gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the
ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different
isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. (provided by
RefSeq, Nov 2008)

GeneCards Summary for TBL1X Gene:
TBL1X (transducin (beta)-like 1X-linked) is a protein-coding gene. Diseases associated with TBL1X include ocular albinism, and albinism. GO annotations related to this gene include transcription regulatory region DNA binding and transcription factor binding. An important paralog of this gene is TBL1Y.

UniProtKB/Swiss-Prot: TBL1X_HUMAN, O60907
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 corepressor complexes that mediates the recruitment of the 19S
proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes,
thereby allowing cofactor exchange

Gene Wiki entry for TBL1X 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:
NC_000023.11  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBL1X gene promoter:
         GATA-3   Sox9   Nkx2-5   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBL1X promoter sequence
   Search Chromatin IP Primers for TBL1X

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBL1X


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

Entrez Gene cytogenetic band: Xp22.3   Ensembl cytogenetic band:  Xp22.31   HGNC cytogenetic band: Xp22.3

TBL1X Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBL1X gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP009431:  view genomic region     (about GC identifiers)

Start:
9,431,335 bp from pter      End:
9,687,780 bp from pter
Size:
256,446 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TBL1X_HUMAN, O60907 (See protein sequence)
Recommended Name: F-box-like/WD repeat-containing protein TBL1X  
Size: 577 amino acids; 62496 Da
Subunit: Component of the N-Cor repressor complex, at least composed of NCOR1, NCOR2, HDAC3, TBL1X, TBL1R, CORO2A
and GPS2. Component of a E3 ubiquitin ligase complex containing UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X.
Probably part of other corepressor complexes, that do not contain NCOR1 and NCOR2. Interacts with histones H2B,
H3a and H4
3 PDB 3D structures from and Proteopedia for TBL1X:
2XTC (3D)        2XTD (3D)        2XTE (3D)    
Secondary accessions: A8K044 A8K4J7 Q86UY2
Alternative splicing: 2 isoforms:  O60907-1   O60907-2   

Explore the universe of human proteins at neXtProt for TBL1X: NX_O60907

Explore proteomics data for TBL1X at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TBL1X Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001132938.1  NP_001132939.1  NP_001132940.1  NP_005638.1  

    ENSEMBL proteins: 
     ENSP00000402923   ENSP00000370348   ENSP00000407069   ENSP00000217964   ENSP00000415508  
     ENSP00000397878   ENSP00000385988   ENSP00000394097   ENSP00000445317  
    Reactome Protein details: O60907

    TBL1X Human Recombinant Protein Products:

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    Novus Biologicals TBL1X Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    TBL1X Antibody Products:

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    TBL1X Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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 8):
     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 O60907

    ProtoNet protein and cluster: O60907

    2 Blocks protein domains:
    IPB001680 G-protein beta WD-40 repeat signature
    IPB006594 Lissencephaly type-1-like homology motif


    UniProtKB/Swiss-Prot: TBL1X_HUMAN, O60907
    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


    TBL1X 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBL1X_HUMAN, O60907
    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 corepressor complexes that mediates the recruitment of the 19S
    proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes,
    thereby allowing cofactor exchange

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding ----
    GO:0003714transcription corepressor activity IGI15601853
    GO:0005515protein binding IPI11931768
    GO:0008013beta-catenin binding IPI18193033
    GO:0008022protein C-terminus binding IPI18374649
         
    TBL1X for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TBL1X:
     Increased G2M DNA content  Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TBL1X
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBL1X
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBL1X

    miRNA
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    miRTarBase miRNAs that target TBL1X:
    hsa-mir-192-5p (MIRT026920), hsa-mir-92a-3p (MIRT049369), hsa-mir-215-5p (MIRT024299), hsa-mir-335-5p (MIRT019134)

    Block miRNA regulation of human, mouse, rat TBL1X using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBL1X (see all 97):
    hsa-miR-582-3p hsa-miR-3607-3p hsa-miR-4272 hsa-miR-106a hsa-miR-938 hsa-miR-30d hsa-miR-519a hsa-miR-30a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TBL1X

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for TBL1X (see all 23)
    OriGene ORF clones in mouse, rat for TBL1X
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): TBL1X (NM_001139467)
    Sino Biological Human cDNA Clone for TBL1X
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBL1X
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBL1X

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TBL1X 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBL1X


    (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
    TBL1X_HUMAN, O60907: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    mitochondrion2
    cytosol1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000118colocalizes with histone deacetylase complex IDA18326024
    GO:0005634nucleus IDA18193033
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex ----
    GO:0005876spindle microtubule IDA18326024

    TBL1X for ontologies           About GeneDecksing


    (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 TBL1X 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TBL1X
        Regulation of Wnt-mediated beta catenin signaling and target gene transcription


    Selected Reactome Pathways for TBL1X (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 TBL1X):
        Wnt signaling pathway


    TBL1X for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBL1X
    Interactions:

        GeneGlobe Interaction Network for TBL1X

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

    Selected Interacting proteins for TBL1X (O609073 ENSP000002179644) via UniProtKB, MINT, STRING, and/or I2D (see all 234)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=4 STRING: ENSP00000352980
    HIST1H4LP628053, ENSP000003482584I2D: score=4 STRING: ENSP00000348258
    HIST2H4AP628053, ENSP000003581624I2D: score=4 STRING: ENSP00000358162
    HIST1H4BP628053I2D: score=4 
    HIST1H4CP628053I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    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:0006508proteolysis IMP18374649
    GO:0007219Notch signaling pathway TAS--
    GO:0007605sensory perception of sound IMP10330347

    TBL1X for ontologies           About GeneDecksing



    (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 TBL1X



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TBL1X gene (4 alternative transcripts): 
    NM_001139466.1  NM_001139467.1  NM_001139468.1  NM_005647.3  

    Unigene Cluster for TBL1X:

    Transducin (beta)-like 1X-linked
    Hs.495656  [show with all ESTs]
    Unigene Representative Sequence: Y12781
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000441088 ENST00000380961 ENST00000415293 ENST00000217964(uc004csr.3)
    ENST00000422314 ENST00000452824 ENST00000497555 ENST00000407597(uc010ndq.3)
    ENST00000424279(uc004csq.4 uc010ndr.3 uc004css.3) ENST00000536365

    miRNA
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    Block miRNA regulation of human, mouse, rat TBL1X using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBL1X (see all 97):
    hsa-miR-582-3p hsa-miR-3607-3p hsa-miR-4272 hsa-miR-106a hsa-miR-938 hsa-miR-30d hsa-miR-519a hsa-miR-30a
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    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): TBL1X (NM_001139467)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBL1X
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBL1X
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TBL1X
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBL1X
      QuantiTect SYBR Green Assays in human, mouse, rat TBL1X
      QuantiFast Probe-based Assays in human, mouse, rat TBL1X

    Additional mRNA sequence: 

    AB209608.1 AK126050.1 AK289409.1 AK290962.1 BC020374.1 BC029394.1 BC032708.1 BC052304.1 
    Y12781.1 

    16 DOTS entries:

    DT.450114  DT.91753893  DT.95173138  DT.121292063  DT.40116314  DT.121292124  DT.75105430  DT.100014673 
    DT.101970533  DT.91790494  DT.100792815  DT.121292099  DT.121292126  DT.40261694  DT.95173122  DT.121292033 

    Selected AceView cDNA sequences (see all 335):

    CA306522 AI369219 BC052304 BC029394 BM706326 AA936270 BE297208 AW500219 
    AI830807 BQ711071 AA668808 BX951415 BM848300 BM876348 AW005325 AI082187 
    AI298830 AI189949 AI459658 BM698395 BF438094 CF264862 BQ436312 AI653494 

    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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    TBL1X expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTCTATTG
    TBL1X Expression
    About this image


    TBL1X expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) 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
     
     Limb (Muscoskeletal System)
             Limb Bud
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    TBL1X Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBL1X Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495656

    UniProtKB/Swiss-Prot: TBL1X_HUMAN, O60907
    Tissue specificity: Ubiquitous

        Custom PCR Arrays for TBL1X
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    QuantiFast Probe-based Assays in human, mouse, rat TBL1X
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBL1X

    (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 TBL1X gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbl1x1 , 5 transducin (beta)-like 1 X-linked1, 5 85.74(n)1
    94.3(a)1
      X (38.31 cM)5
    213721  NM_020601.21  NP_065626.11 
     775110135 
    chicken
    (Gallus gallus)
    Aves TBL1X1 transducin (beta)-like 1X-linked 83.05(n)
    94.07(a)
      426045  NM_001159754.1  NP_001153226.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    92(a)
    1 → many
    3(118514453-118546473)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tbl1x1 transducin (beta)-like 1X-linked 77.69(n)
    91.35(a)
      100145441  NM_001126895.1  NP_001120367.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbl1x1 transducin (beta)-like 1X-linked 74.97(n)
    85.1(a)
      560294  NM_001082994.1  NP_001076463.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ebi1 , 3 regulation of cell cycle GTP binding3
    ebi1
    75(a)3
    68.79(n)1
    80.44(a)1
      21C43
    332121  NM_057981.41  NP_477329.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SIF26
    WD40 repeat-containing subunit of the Set3C histon...
    25(a)
    1 → many
    II(447709-449316) YBR103W


    ENSEMBL Gene Tree for TBL1X (if available)
    TreeFam Gene Tree for TBL1X (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBL1X gene
    TBL1Y2  THOC32  TBL1XR12  
    3 SIMAP similar genes for TBL1X using alignment to 5 protein entries:     TBL1X_HUMAN (see all proteins):
    TBL1XR1    TBL1Y    WDR83

    TBL1X for paralogs           About GeneDecksing



    (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 TBL1X (see all 4177)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1876363831,2
    --9429413(+) ATTGCC/TGAACT 3 -- us2k10--------
    rs1926974751,2
    --9429418(+) CGAACC/TGTCTT 3 -- us2k10--------
    rs59346141,2
    C--9429443(+) caattC/Gtgcat 3 -- us2k10--------
    rs59346151,2
    C,F,A,H--9429547(+) tagtaA/Gtatct 3 -- us2k17Minor allele frequency- G:0.31NA WA CSA 13
    rs59346161,2
    C,F,A--9429617(+) GCTTAT/CTTGCC 3 -- us2k11Minor allele frequency- C:0.00NA 1
    rs1997670681,2
    --9429759(+) CTGTA-/CACG  
            
    CACAC
    3 -- us2k10--------
    rs2005271171,2
    --9429761(+) GTACA-/CGCACAC 3 -- us2k10--------
    rs353558921,2
    C--9429763(+) ACACG-/CACACAC 3 -- us2k10--------
    rs346202641,2
    C--9429801(+) ACTCT-/AAAAAA 3 -- us2k10--------
    rs1857514741,2
    --9429832(+) TCTGTC/TGCCCA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for TBL1X (9431335 - 9681335 bp, first 250kb of TBL1X)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for TBL1X:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739955CNV Deletion23290073
    esv2609262CNV Deletion19546169
    nsv6794CNV Insertion18451855
    nsv6793CNV Loss18451855
    esv25135CNV Loss19812545
    nsv469613CNV Complex16826518
    dgv2437e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): TBL1X
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBL1X
    DNA2.0 Custom Variant and Variant Library Synthesis for TBL1X

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300196    OMIM disorders: --

    11 diseases for TBL1X:    
    About MalaCards
    ocular albinism    albinism    lissencephaly    thyroiditis
    intellectual disability    tonsillitis    prostate cancer    endotheliitis
    cerebritis    prostatitis    malaria


    TBL1X for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for TBL1X gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    deafness sensorineural 62.6 3 10330347 (2), 10809664 (1)


    Export disorders for TBL1X 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 TBL1X gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with TBL1X)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. (PubMed id 10330347)1, 2, 3, 9 Bassi M.T.... Borsani G. (Am. J. Hum. Genet. 1999)
    2. A core SMRT corepressor complex containing HDAC3 and TBL1, a WD40- repeat protein linked to deafness. (PubMed id 10809664)1, 2, 9 Guenther M.G....Shiekhattar R. (Genes Dev. 2000)
    3. 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)
    4. 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)
    5. Both corepressor proteins SMRT and N-CoR exist in large protein complexes containing HDAC3. (PubMed id 10944117)1, 2, 9 Li J.... Wong J. (EMBO J. 2000)
    6. 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)
    7. The N-CoR-HDAC3 nuclear receptor corepressor complex inhibits the JNK pathway through the integral subunit GPS2. (PubMed id 11931768)1, 2 Zhang J.... Roeder R.G. (Mol. Cell 2002)
    8. Siah-1, SIP, and Ebi collaborate in a novel pathway for beta-catenin degradation linked to p53 responses. (PubMed id 11389839)1, 2 Matsuzawa S. and Reed J.C. (Mol. Cell 2001)
    9. Direct ubiquitination of beta-catenin by Siah-1 and regulation by the exchange factor TBL1. (PubMed id 20181957)1, 9 Dimitrova Y.N....Chazin W.J. (J. Biol. Chem. 2010)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 6907 HGNC: 11585 AceView: TBL1X Ensembl:ENSG00000101849 euGenes: HUgn6907
    ECgene: TBL1X Kegg: 6907 H-InvDB: TBL1X

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for TBL1X Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TBL1X gene:
    Search GeneIP for patents involving TBL1X

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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