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    Tbl1x transducin (beta)-like 1 X-linked [ Mus musculus (house mouse) ]

    Gene ID: 21372, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Tbl1xprovided by MGI
    Official Full Name
    transducin (beta)-like 1 X-linkedprovided by MGI
    Primary source
    MGI:MGI:1336172
    See related
    Ensembl:ENSMUSG00000025246 AllianceGenome:MGI:1336172
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tbl1; 5330429M20
    Summary
    Enables chromatin binding activity; transcription cis-regulatory region binding activity; and transcription corepressor activity. Involved in positive regulation of transcription by RNA polymerase II and protein stabilization. Acts upstream of or within several processes, including fat cell differentiation; regulation of DNA-templated transcription; and response to estrogen. Part of transcription regulator complex. Is expressed in cerebral cortex ventricular layer and genitourinary system. Human ortholog(s) of this gene implicated in Y-linked deafness 2 and congenital nongoitrous hypothyroidism 8. Orthologous to several human genes including TBL1X (transducin beta like 1 X-linked). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 17.0), genital fat pad adult (RPKM 14.7) and 28 other tissues See more
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    Genomic context

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    See Tbl1x in Genome Data Viewer
    Location:
    X A7.3- B; X 38.31 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (76553053..76706591)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (77509549..77662722)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_47409 Neighboring gene YKT6 homolog pseudogene Neighboring gene STARR-seq mESC enhancer starr_47410 Neighboring gene predicted gene 5937 Neighboring gene STARR-seq mESC enhancer starr_47413 Neighboring gene STARR-seq mESC enhancer starr_47415 Neighboring gene predicted gene, 52447 Neighboring gene STARR-seq mESC enhancer starr_47416 Neighboring gene claudin 34, pseudogene Neighboring gene SET translocation pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Transducin β-like 1, X-linked and nuclear receptor co-repressor cooperatively augment the ligand-independent stimulation of TRH and TSHβ gene promoters by thyroid hormone receptors. Takamizawa T, et al. Endocr J, 2018 Aug 27. PMID 29794369
    2. Mutant Tbl1x male mice have a short life span and do not breed: unexpected findings. Hu Y, et al. J Mol Endocrinol, 2024 Jul 1. PMID 38381448
    3. Tbl1 promotes Wnt-β-catenin signaling-induced degradation of the Tcf7l1 protein in mouse embryonic stem cells. Yu Y, et al. J Cell Sci, 2024 May 1. PMID 38639717
    4. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. Bassi MT, et al. Am J Hum Genet, 1999 Jun. PMID 10330347, Free PMC Article
    5. Transducin β-like protein 1 recruits nuclear factor κB to the target gene promoter for transcriptional activation. Ramadoss S, et al. Mol Cell Biol, 2011 Mar. PMID 21189284, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tbl1 promotes Wnt-beta-catenin signaling-induced degradation of the Tcf7l1 protein in mouse embryonic stem cells.
      Title: Tbl1 promotes Wnt-β-catenin signaling-induced degradation of the Tcf7l1 protein in mouse embryonic stem cells.
    2. Mutant Tbl1x male mice have a short life span and do not breed: unexpected findings.
      Title: Mutant Tbl1x male mice have a short life span and do not breed: unexpected findings.
    3. These results suggest that TBL1X is needed for the full activation of TRH and TSHbeta gene promoters by unliganded thyroid hormone receptors.
      Title: Transducin β-like 1, X-linked and nuclear receptor co-repressor cooperatively augment the ligand-independent stimulation of TRH and TSHβ gene promoters by thyroid hormone receptors.
    4. TBL1 deficiency resulted in inhibition of fatty acid oxidation due to impaired functional cooperation with its heterodimerization partner TBL-related (TBLR) 1 and the nuclear receptor peroxisome proliferator-activated receptor (PPAR) alpha
      Title: Hepatic deficiency in transcriptional cofactor TBL1 promotes liver steatosis and hypertriglyceridemia.
    5. TBLR1 and TBL1 have roles in specific nuclear receptor-mediated gene activation events
      Title: A corepressor/coactivator exchange complex required for transcriptional activation by nuclear receptors and other regulated transcription factors.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription corepressor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables transcription corepressor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within response to estrogen IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within response to steroid hormone IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of histone deacetylase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of histone deacetylase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitotic spindle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription repressor complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    F-box-like/WD repeat-containing protein TBL1X
    Names
    transducin beta-like protein 1X

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001426013.1 → NP_001412942.1  F-box-like/WD repeat-containing protein TBL1X

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All six variants encode the same protein.
      Source sequence(s)
      AL671901, AL714017, AL928582
      UniProtKB/Swiss-Prot
      Q8BMM0, Q8BYQ4, Q8C0A1, Q9QXE7

    2. NM_001426014.1 → NP_001412943.1  F-box-like/WD repeat-containing protein TBL1X

      Status: VALIDATED

      Source sequence(s)
      AL671901, AL714017, AL928582
      UniProtKB/Swiss-Prot
      Q8BMM0, Q8BYQ4, Q8C0A1, Q9QXE7

    3. NM_001426015.1 → NP_001412944.1  F-box-like/WD repeat-containing protein TBL1X

      Status: VALIDATED

      Source sequence(s)
      AL671901, AL714017, AL928582
      UniProtKB/Swiss-Prot
      Q8BMM0, Q8BYQ4, Q8C0A1, Q9QXE7

    4. NM_001426016.1 → NP_001412945.1  F-box-like/WD repeat-containing protein TBL1X

      Status: VALIDATED

      Source sequence(s)
      AL671901, AL714017, AL928582
      UniProtKB/Swiss-Prot
      Q8BMM0, Q8BYQ4, Q8C0A1, Q9QXE7

    5. NM_001426017.1 → NP_001412946.1  F-box-like/WD repeat-containing protein TBL1X

      Status: VALIDATED

      Source sequence(s)
      AL671901, AL714017, AL928582
      UniProtKB/Swiss-Prot
      Q8BMM0, Q8BYQ4, Q8C0A1, Q9QXE7

    6. NM_020601.3 → NP_065626.1  F-box-like/WD repeat-containing protein TBL1X

      See identical proteins and their annotated locations for NP_065626.1

      Status: VALIDATED

      Source sequence(s)
      AL671901, AL714017, AL928582
      Consensus CDS
      CCDS41036.1
      UniProtKB/Swiss-Prot
      Q8BMM0, Q8BYQ4, Q8C0A1, Q9QXE7
      Related
      ENSMUSP00000085549.6, ENSMUST00000088217.12
      Conserved Domains (3) summary
      cd00200
      Location:177 → 483
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:185 → 232
      7WD40; WD40 repeat [structural motif]
      pfam08513
      Location:7 → 31
      LisH

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      76553053..76706591
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9QXE7.2 GenPept UniProtKB/Swiss-Prot:Q9QXE7

    Gene LinkOut

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