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FLASH GENE
Symbol TBL1XR1 contributors: mct - updated : 18-09-2017
HGNC name transducin (beta)-like 1X-linked receptor 1
HGNC id 29529
Corresponding disease
MRD41 mental retardation, autosomal dominant 41
Location 3q26.32      Physical location : 176.738.542 - 176.915.048
Genatlas name nuclear receptor co-repressor/HDAC3 complex subunit
Synonym name
  • TBL1-related protein 1
  • Synonym symbol(s) C21, IRA1, FLJ12894, C21, DC42, FLJ12894, TBLR1, MRD41
    DNA
    TYPE functioning gene
    STRUCTURE 178.01 kb     16 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text multiple polyadenylation sites
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 6550 - 514 - 2008 18193033
    17 - 8149 - 514 - 2008 18193033
    15 - 7866 - 427 - 2008 18193033
    16 - 7969 - 514 - 2008 18193033
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivesalivary gland   highly
    Endocrinepancreas    
    Hearing/Equilibriumearinnercochlea highly
    Reproductivemale systemprostate   
    Respiratorylung    
     respiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eight WD40 repeats (TRP-ASP domains)
  • 1 f-box-like domain.
  • a LISH domain
  • eight WD repeats
  • HOMOLOGY
    interspecies ortholog to murine Ira1
    homolog to Drosophila CG14217
    homolog to C.elegans kin-18
    Homologene
    FAMILY WD40 family
    CATEGORY regulatory , receptor nuclear
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm
    text
  • is primarily localized in the nucleus in benign prostate cells and nuclear expression is significantly reduced in prostate cancer cells
  • basic FUNCTION
  • playing a regulatory role during development
  • plays an essential role in transcription activation mediated by nuclear receptors
  • probably acting as integral component of corepressor complexes that mediates the recruitment of the 19s proteasome complex, leading to the subsequent proteosomal degradation of transcription repressor complexes
  • key regulator of gene expression, and important gene in the appropriate control of gene expression (Parker 2008)
  • E3 ligase acting as a protein involved in BCL3 degradation through a GSK3-independent pathway
  • with CTBP1, are key regulators of different properties of the BCL3 oncoprotein
  • TBL1X and its highly related family member TBL1XR1 were required for Wnt-beta-catenin-mediated transcription
  • controls lipid mobilization in white adipose tissue
  • is essential for transcriptional repression mediated by unliganded nuclear receptors (NRs) and othe regulated transcription factors (TFs)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
  • core component of NCoR (nuclear receptor corepressor) and SMRT (silencing mediator of retinoic acid and thyroid receptor) corepressor complexes
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TBL1XR1, interact with SASH3 in postmeiotic male germ cells
  • physically interacts with AR and directly occupies the androgen-response elements of the affected AR target genes in an androgen-dependent manner
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD41
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    recurrent deletions in ETV6-RUNX1 positive acute lymphoblastic leukemia (Parker 2008)
    tumoral fusion      
    fusion between TBL1XR1 and TP63, in diffuse large B-cell lymphoma (DLBCL)
    tumoral     --over  
    in the nucleus of malignant breast and ovarian cells compared to benign cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking TBLR1 in adipocytes are defective in fasting-induced lipid mobilization and, when placed on a high-fat-diet, show aggravated adiposity, glucose intolerance, and insulin resistance.