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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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