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TBL1XR1 TBL1X receptor 1 [ Homo sapiens (human) ]

Gene ID: 79718, updated on 1-Aug-2020

Summary

Official Symbol
TBL1XR1provided by HGNC
Official Full Name
TBL1X receptor 1provided by HGNC
Primary source
HGNC:HGNC:29529
See related
Ensembl:ENSG00000177565 MIM:608628
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C21; DC42; IRA1; MRD41; TBLR1
Summary
This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]
Expression
Ubiquitous expression in thyroid (RPKM 21.1), prostate (RPKM 13.2) and 25 other tissues See more
Orthologs

Genomic context

See TBL1XR1 in Genome Data Viewer
Location:
3q26.32
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (177019344..177197482, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (176738542..176915048, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1209 Neighboring gene MT-ND5 pseudogene 15 Neighboring gene Sharpr-MPRA regulatory region 5683 Neighboring gene RNA, U6 small nuclear 681, pseudogene Neighboring gene uncharacterized LOC107986053 Neighboring gene long intergenic non-protein coding RNA 501 Neighboring gene argininosuccinate synthetase 1 pseudogene 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal dominant 41
MedGen: C4310784 OMIM: 616944 GeneReviews: Not available
Compare labs
Pierpont syndrome
MedGen: C1865644 OMIM: 602342 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

Little evidence for dosage pathogenicity (Last evaluated (2019-03-27)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2019-03-27)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
NHGRI GWA Catalog
Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Rev is identified to have a physical interaction with transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12894

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone binding IDA
Inferred from Direct Assay
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription corepressor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
blastocyst hatching IEA
Inferred from Electronic Annotation
more info
 
fat pad development IEA
Inferred from Electronic Annotation
more info
 
histone deacetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
 
response to dietary excess IEA
Inferred from Electronic Annotation
more info
 
white fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
histone deacetylase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone deacetylase complex IDA
Inferred from Direct Assay
more info
PubMed 
mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcriptional repressor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
F-box-like/WD repeat-containing protein TBL1XR1
Names
TBL1-related protein 1
nuclear receptor co-repressor/HDAC3 complex subunit
nuclear receptor corepressor/HDAC3 complex subunit TBLR1
transducin beta like 1 X-linked receptor 1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_047195.1 RefSeqGene

    Range
    4779..182904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321193.3NP_001308122.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), as well as variants 1, 3, 5, 6, and 7, encodes isoform 1.
    Source sequence(s)
    AC023235, AC078799, KF457713
    Consensus CDS
    CCDS46961.1
    UniProtKB/Swiss-Prot
    Q9BZK7
    Related
    ENSP00000405574.1, ENST00000430069.5
    Conserved Domains (4) summary
    cd00200
    Location:164470
    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:228264
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH
    cl27623
    Location:436514
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
  2. NM_001321194.3NP_001308123.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, 3, 5, 6, and 7 all encode the same isoform (1).
    Source sequence(s)
    AC023235, AC078799, KF457713
    Consensus CDS
    CCDS46961.1
    UniProtKB/Swiss-Prot
    Q9BZK7
    Related
    ENSP00000387849.3, ENST00000422442.6
    Conserved Domains (4) summary
    cd00200
    Location:164470
    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:228264
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH
    cl27623
    Location:436514
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
  3. NM_001321195.3NP_001308124.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. Variants 4 and 8 both encode the same isoform (2).
    Source sequence(s)
    AC023235, AC078799, KF457713
    UniProtKB/Swiss-Prot
    Q9BZK7
    Conserved Domains (3) summary
    cd00200
    Location:77383
    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 ...
    TIGR02800
    Location:349427
    propeller_TolB; tol-pal system beta propeller repeat protein TolB
    sd00039
    Location:182219
    7WD40; WD40 repeat [structural motif]
  4. NM_001374327.1NP_001361256.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1, 2, 3, 6, and 7, encodes isoform 1.
    Source sequence(s)
    AC023235, AC078799, KF457713
    Related
    ENSP00000263964.11, ENST00000352800.10
  5. NM_001374328.1NP_001361257.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 1, 2, 3, 5, and 7, encodes isoform 1.
    Source sequence(s)
    AC023235, AC078799, KF457713
  6. NM_001374329.1NP_001361258.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 1, 2, 3, 5, and 6, encodes isoform 1.
    Source sequence(s)
    AC023235, AC078799, KF457713
  7. NM_001374330.1NP_001361259.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variant 4, encodes isoform 2.
    Source sequence(s)
    AC023235, AC078799, KF457713
    Conserved Domains (3) summary
    cd00200
    Location:77383
    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 ...
    TIGR02800
    Location:349427
    propeller_TolB; tol-pal system beta propeller repeat protein TolB
    sd00039
    Location:182219
    7WD40; WD40 repeat [structural motif]
  8. NM_024665.7NP_078941.2  F-box-like/WD repeat-containing protein TBL1XR1 isoform 1

    See identical proteins and their annotated locations for NP_078941.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), as well as variants 2, 3, 5, 6, and 7, encodes isoform 1.
    Source sequence(s)
    AC023235, AC078799, KF457713
    Consensus CDS
    CCDS46961.1
    UniProtKB/Swiss-Prot
    Q9BZK7
    Related
    ENSP00000413251.2, ENST00000457928.6
    Conserved Domains (4) summary
    cd00200
    Location:164470
    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:228264
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH
    cl27623
    Location:436514
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    177019344..177197482 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513142.2XP_011511444.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

    See identical proteins and their annotated locations for XP_011511444.1

    UniProtKB/Swiss-Prot
    Q9BZK7
    Related
    ENSP00000501274.1, ENST00000673974.1
    Conserved Domains (4) summary
    cd00200
    Location:164470
    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:228264
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH
    cl27623
    Location:436514
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
  2. XM_011513141.1XP_011511443.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

    See identical proteins and their annotated locations for XP_011511443.1

    UniProtKB/Swiss-Prot
    Q9BZK7
    Conserved Domains (4) summary
    cd00200
    Location:164470
    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:228264
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH
    cl27623
    Location:436514
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
  3. XM_024453752.1XP_024309520.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

    Conserved Domains (4) summary
    cd00200
    Location:164470
    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:228264
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH
    cl27623
    Location:436514
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
  4. XM_011513143.2XP_011511445.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

    See identical proteins and their annotated locations for XP_011511445.1

    UniProtKB/Swiss-Prot
    Q9BZK7
    Conserved Domains (4) summary
    cd00200
    Location:164470
    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:228264
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH
    cl27623
    Location:436514
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
  5. XM_006713746.1XP_006713809.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

    See identical proteins and their annotated locations for XP_006713809.1

    UniProtKB/Swiss-Prot
    Q9BZK7
    Conserved Domains (4) summary
    cd00200
    Location:164470
    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:228264
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH
    cl27623
    Location:436514
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
  6. XM_024453751.1XP_024309519.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

    Related
    ENSP00000486324.1, ENST00000631253.2
    Conserved Domains (4) summary
    cd00200
    Location:164470
    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:228264
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH
    cl27623
    Location:436514
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
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