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

Summary

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

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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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

428J17-1/2 (e-PCR)
- UniSTS:243215

428J17-3/4 (e-PCR)
- UniSTS:243216

428J17-sp6 (e-PCR)
- UniSTS:243218

546A15-sp6 (e-PCR)
- UniSTS:243219

RH126599 (e-PCR)
- UniSTS:209714

Tbl1x (e-PCR), detects polymorphism
- UniSTS:526906

TBL1F (e-PCR)
- UniSTS:243273

px-41e4 (e-PCR)
- UniSTS:257766

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	IEA Inferred from Electronic Annotation more info
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 negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
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
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of histone deacetylase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of histone deacetylase complex	IEA Inferred from Electronic Annotation more info
part_of histone deacetylase complex	ISO Inferred from Sequence Orthology more info
located_in mitotic spindle	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
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)

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
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
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
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
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
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