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

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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, 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 factor binding and protein domain specific 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167197.1  NC_018934.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TBL1X

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Nucleus (Probable)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60907

  • TBL1X Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBL1X Protein Expression
    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
    Human Recombinant Protein Products for TBL1X: 
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    Novus Biologicals TBL1X Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    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 IDA18193033
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex ----
    GO:0005876spindle microtubule IDA18326024

    TBL1X 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 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,
    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: 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): 5/9 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for TBL1X 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBL1X 
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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 TBL1X 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 TBL1X
        Regulation of Wnt-mediated beta catenin signaling and target gene transcription


    5/17        Reactome Pathways for TBL1X (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 TBL1X):
        Wnt signaling pathway


    TBL1X for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TBL1X

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

    5/96 Interacting proteins for TBL1X (O609073 ENSP000002179644) via UniProtKB, MINT, STRING, and/or I2D (see all 96)
    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): 5/14 biological process terms (GO ID links to tree view) (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-dependent 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 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 TBL1X

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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

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    8/97 QIAGEN miScript miRNA 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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    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 

    24/335 AceView cDNA sequences (see all 335):

    CB127830 AW072397 BQ436312 AA079366 BF058704 BF054987 CA306522 AI830807 
    AA335598 N41823 BM706326 AA224420 BP376848 BQ711071 BF593932 W42673 
    R93893 AU131374 AI401644 AA757820 BC029394 AI824140 AA233863 AI292205 

    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

    TBL1X expression in normal human tissues (normalized intensities)      TBL1X embryonic expression: see
    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 
     5/35 selected tissues (see all 35) fully expand
     
     Uterus
             uterus, post-menopause ; glandular cells   
             endometrial endothelial cell   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             neutrophils   

    See TBL1X Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBL1X

    SOURCE GeneReport for Unigene cluster: Hs.495656

    UniProtKB/Swiss-Prot: TBL1X_HUMAN, O60907
    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 animals and fungi.

    Orthologs for TBL1X gene from 6/16 species (see all 16)    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 85.87(n)1
    94.68(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 83.24(n)
    94.84(a)
      426045  NM_001159754.1  NP_001153226.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    92(a)
    1 → many
    3(118514453-118546473)
    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
    CG4063-PA1
    75(a)3
    64.19(n)1
    73.44(a)1
      21C43
    332121  NM_057981.31  NP_477329.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SIF21 Sif2p 40.91(n)
    27.69(a)
      852399   NP_009661.1 


    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)
    About This Section
    Paralogs for TBL1X gene
    TBL1Y2  TBL1XR12  WDR172  
    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) 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

    10/4177 SNPs in TBL1X are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300196    OMIM disorders: --

    5 diseases for TBL1X:    About MalaCards
    ocular albinism    albinism    lissencephaly    thyroiditis
    intellectual disability


    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)
    About This Section

    PubMed articles for TBL1X gene, integrated from 9 sources (see all 43):
    (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. (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. (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. (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. (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. (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. (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. (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. (2001)
    9. Direct ubiquitination of beta-catenin by Siah-1 and r egulation by the exchange factor TBL1. (PubMed id 20181957)1, 9 Dimitrova Y.N....Chazin W.J. (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. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6907 HGNC: 11585 AceView: TBL1X Ensembl:ENSG00000101849 euGenes: HUgn6907
    ECgene: TBL1X Kegg: 6907 H-InvDB: TBL1X

    (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 TBL1X 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 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



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