Tbl1xr1 transducin (beta)-like 1X-linked receptor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbl1xr1provided by MGI
Official Full Name: transducin (beta)-like 1X-linked receptor 1provided by MGI
Primary source: MGI:MGI:2441730
See related: Ensembl:ENSMUSG00000027630 AllianceGenome:MGI:2441730
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: C21; DC42; Ira1; TBLR1; 8030499H02Rik; A630076E03Rik; C230089I12Rik
Summary: Enables transcription cis-regulatory region binding activity and transcription corepressor activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including blastocyst hatching; fat pad development; and regulation of primary metabolic process. Predicted to be located in mitotic spindle and nucleus. Predicted to be part of histone deacetylase complex and transcription repressor complex. Is expressed in early conceptus; secondary oocyte; and thymus primordium. Used to study Pierpont syndrome. Human ortholog(s) of this gene implicated in Pierpont syndrome and autosomal dominant intellectual developmental disorder 41. Orthologous to human TBL1XR1 (TBL1X/Y related 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in frontal lobe adult (RPKM 4.6), limb E14.5 (RPKM 4.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 A3; 3 7.58 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (22130756..22270758)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (22076253..22216594)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1[Y446C/Y446C] variant.
Title: Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1(Y446C/Y446C) variant.
The role of transducin beta-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice.
Title: The role of transducin β-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice.
Deficiency of TBL1XR1 causes asthenozoospermia.
Title: Deficiency of TBL1XR1 causes asthenozoospermia.
TBL1XR1 Mutations Drive Extranodal Lymphoma by Inducing a Pro-tumorigenic Memory Fate.
Title: TBL1XR1 Mutations Drive Extranodal Lymphoma by Inducing a Pro-tumorigenic Memory Fate.
SMRT/N-CoR repressor complex is involved in gene regulation during sperm differentiation since members of this complex, in particular TBL1XR1, interact with SLY in postmeiotic male germ cells.
Title: SLY regulates genes involved in chromatin remodeling and interacts with TBL1XR1 during sperm differentiation.
our data suggest that Setd5 is required for maintaining PGC-associated genes and Setd5-associated protein complexes containing Tbl1xr1 and Ctr9, which in turn are likely involved in regulating germ cell-related genes in mESCs
Title: SET domain-containing protein 5 is required for expression of primordial germ cell specification-associated genes in murine embryonic stem cells.
The cell autonomous transcriptional activity of TBLR1 controls multiple beta-adrenoceptor and postreceptor checkpoints in white adipocytes, thereby coordinating an integrated response of cAMP-dependent free fatty acid (FFA) mobilization.
Title: Transcriptional cofactor TBLR1 controls lipid mobilization in white adipose tissue.
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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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6) 1 citation
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483421

35.MMHAP23FLD5.seq (e-PCR)
- UniSTS:159099

AW539987 (e-PCR)
- UniSTS:178813

NoName (e-PCR)
- UniSTS:224961

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-catenin binding	IEA Inferred from Electronic Annotation more info
enables beta-catenin binding	ISO Inferred from Sequence Orthology more info
enables histone binding	IEA Inferred from Electronic Annotation more info
enables histone 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 adipose tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blastocyst hatching	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within fat pad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	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 negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype 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 triglyceride metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to dietary excess	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within white fat cell differentiation	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	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	TAS Traceable Author Statement more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
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 TBL1XR1

Names: F-box-like/WD repeat protein TBL1XR1; TBL1-related protein 1; nuclear receptor corepressor/HDAC3 complex subunit TBLR1; transducin beta-like 1X-related protein 1

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_030732.3 → NP_109657.2 F-box-like/WD repeat-containing protein TBL1XR1

See identical proteins and their annotated locations for NP_109657.2

Status: VALIDATED

Source sequence(s)

AC121108, AC126599, AK033347

Consensus CDS

CCDS17266.1

UniProtKB/Swiss-Prot

Q3UWL6, Q8BHJ5, Q8CBG4, Q8VEG3, Q9EQD4

UniProtKB/TrEMBL

A0A0J9YV90

Related

ENSMUSP00000144436.2, ENSMUST00000202747.4

Conserved Domains (4) summary

cd00200
Location:164 → 470

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:228 → 264

7WD40; WD40 repeat [structural motif]

pfam08513
Location:7 → 31

LisH

cl29726
Location:436 → 514

TolB; Periplasmic component of the Tol biopolymer transport system [Intracellular trafficking, secretion, and vesicular transport]

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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

22130756..22270758

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011249719.2 → XP_011248021.1 F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

See identical proteins and their annotated locations for XP_011248021.1

UniProtKB/Swiss-Prot

Q3UWL6, Q8BHJ5, Q8CBG4, Q8VEG3, Q9EQD4

UniProtKB/TrEMBL

A0A0J9YV90

Conserved Domains (4) summary

cd00200
Location:164 → 470

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:228 → 264

7WD40; WD40 repeat [structural motif]

pfam08513
Location:7 → 31

LisH

cl29726
Location:436 → 514

TolB; Periplasmic component of the Tol biopolymer transport system [Intracellular trafficking, secretion, and vesicular transport]
XM_006535581.5 → XP_006535644.1 F-box-like/WD repeat-containing protein TBL1XR1 isoform X2

UniProtKB/TrEMBL

A0A0J9YV90

Conserved Domains (3) summary

cd00200
Location:164 → 470

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:172 → 215

7WD40; WD40 repeat [structural motif]

pfam08513
Location:7 → 31

LisH
XM_006535579.4 → XP_006535642.1 F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

See identical proteins and their annotated locations for XP_006535642.1

UniProtKB/Swiss-Prot

Q3UWL6, Q8BHJ5, Q8CBG4, Q8VEG3, Q9EQD4

UniProtKB/TrEMBL

A0A0J9YV90

Related

ENSMUSP00000142184.2, ENSMUST00000193734.6

Conserved Domains (4) summary

cd00200
Location:164 → 470

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:228 → 264

7WD40; WD40 repeat [structural motif]

pfam08513
Location:7 → 31

LisH

cl29726
Location:436 → 514

TolB; Periplasmic component of the Tol biopolymer transport system [Intracellular trafficking, secretion, and vesicular transport]
XM_011249723.4 → XP_011248025.1 F-box-like/WD repeat-containing protein TBL1XR1 isoform X3

See identical proteins and their annotated locations for XP_011248025.1

Conserved Domains (3) summary

cd00200
Location:77 → 383

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:141 → 177

7WD40; WD40 repeat [structural motif]

cl29726
Location:349 → 427

TolB; Periplasmic component of the Tol biopolymer transport system [Intracellular trafficking, secretion, and vesicular transport]
XM_030252921.1 → XP_030108781.1 F-box-like/WD repeat-containing protein TBL1XR1 isoform X2

UniProtKB/TrEMBL

A0A0J9YV90

Conserved Domains (3) summary

cd00200
Location:164 → 470

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:172 → 215

7WD40; WD40 repeat [structural motif]

pfam08513
Location:7 → 31

LisH
XM_011249718.4 → XP_011248020.1 F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

See identical proteins and their annotated locations for XP_011248020.1

UniProtKB/Swiss-Prot

Q3UWL6, Q8BHJ5, Q8CBG4, Q8VEG3, Q9EQD4

UniProtKB/TrEMBL

A0A0J9YV90

Conserved Domains (4) summary

cd00200
Location:164 → 470

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:228 → 264

7WD40; WD40 repeat [structural motif]

pfam08513
Location:7 → 31

LisH

cl29726
Location:436 → 514

TolB; Periplasmic component of the Tol biopolymer transport system [Intracellular trafficking, secretion, and vesicular transport]
XM_017319817.2 → XP_017175306.1 F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

UniProtKB/Swiss-Prot

Q3UWL6, Q8BHJ5, Q8CBG4, Q8VEG3, Q9EQD4

UniProtKB/TrEMBL

A0A0J9YV90

Conserved Domains (4) summary

cd00200
Location:164 → 470

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:228 → 264

7WD40; WD40 repeat [structural motif]

pfam08513
Location:7 → 31

LisH

cl29726
Location:436 → 514

TolB; Periplasmic component of the Tol biopolymer transport system [Intracellular trafficking, secretion, and vesicular transport]
XM_006535580.5 → XP_006535643.1 F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

See identical proteins and their annotated locations for XP_006535643.1

UniProtKB/Swiss-Prot

Q3UWL6, Q8BHJ5, Q8CBG4, Q8VEG3, Q9EQD4

UniProtKB/TrEMBL

A0A0J9YV90

Related

ENSMUSP00000067164.9, ENSMUST00000063988.14

Conserved Domains (4) summary

cd00200
Location:164 → 470

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:228 → 264

7WD40; WD40 repeat [structural motif]

pfam08513
Location:7 → 31

LisH

cl29726
Location:436 → 514

TolB; Periplasmic component of the Tol biopolymer transport system [Intracellular trafficking, secretion, and vesicular transport]
XM_030252922.2 → XP_030108782.1 F-box-like/WD repeat-containing protein TBL1XR1 isoform X3

Conserved Domains (3) summary

cd00200
Location:77 → 383

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:141 → 177

7WD40; WD40 repeat [structural motif]

cl29726
Location:349 → 427

TolB; Periplasmic component of the Tol biopolymer transport system [Intracellular trafficking, secretion, and vesicular transport]
XM_030252920.2 → XP_030108780.1 F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

UniProtKB/Swiss-Prot

Q3UWL6, Q8BHJ5, Q8CBG4, Q8VEG3, Q9EQD4

UniProtKB/TrEMBL

A0A0J9YV90

Conserved Domains (4) summary

cd00200
Location:164 → 470

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:228 → 264

7WD40; WD40 repeat [structural motif]

pfam08513
Location:7 → 31

LisH

cl29726
Location:436 → 514

TolB; Periplasmic component of the Tol biopolymer transport system [Intracellular trafficking, secretion, and vesicular transport]
XM_011249721.4 → XP_011248023.1 F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

See identical proteins and their annotated locations for XP_011248023.1

UniProtKB/Swiss-Prot

Q3UWL6, Q8BHJ5, Q8CBG4, Q8VEG3, Q9EQD4

UniProtKB/TrEMBL

A0A0J9YV90

Conserved Domains (4) summary

cd00200
Location:164 → 470

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:228 → 264

7WD40; WD40 repeat [structural motif]

pfam08513
Location:7 → 31

LisH

cl29726
Location:436 → 514

TolB; Periplasmic component of the Tol biopolymer transport system [Intracellular trafficking, secretion, and vesicular transport]
XM_011249724.4 → XP_011248026.1 F-box-like/WD repeat-containing protein TBL1XR1 isoform X3

See identical proteins and their annotated locations for XP_011248026.1

Conserved Domains (3) summary

cd00200
Location:77 → 383

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:141 → 177

7WD40; WD40 repeat [structural motif]

cl29726
Location:349 → 427

TolB; Periplasmic component of the Tol biopolymer transport system [Intracellular trafficking, secretion, and vesicular transport]