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TBL1XR1 TBL1X/Y related 1 [ Homo sapiens (human) ]

Gene ID: 79718, updated on 10-Dec-2024

Summary

Official Symbol
TBL1XR1provided by HGNC
Official Full Name
TBL1X/Y related 1provided by HGNC
Primary source
HGNC:HGNC:29529
See related
Ensembl:ENSG00000177565 MIM:608628; AllianceGenome:HGNC:29529
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
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Genomic context

See TBL1XR1 in Genome Data Viewer
Location:
3q26.32
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (177019344..177201800, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (179822332..180000612, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (176737132..176915270, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:176544827-176545328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:176545329-176545828 Neighboring gene long intergenic non-protein coding RNA 1209 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:176755168-176756367 Neighboring gene MT-ND5 pseudogene 15 Neighboring gene Sharpr-MPRA regulatory region 5683 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:176759414-176759658 Neighboring gene TBL1XR1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20836 Neighboring gene Sharpr-MPRA regulatory region 13561 Neighboring gene RNA, U6 small nuclear 681, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:176870313-176870813 Neighboring gene Sharpr-MPRA regulatory region 10853 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:176911488-176912078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14902 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:176914847-176915356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:176915357-176915864 Neighboring gene uncharacterized LOC107986053 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:177001817-177002549 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:177006212-177006426 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:177011460-177012659 Neighboring gene long intergenic non-protein coding RNA 501 Neighboring gene argininosuccinate synthetase 1 pseudogene 7

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Intellectual disability, 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

EBI GWAS Catalog

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

Clone Names

  • FLJ12894

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables histone binding IDA
Inferred from Direct Assay
more info
PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
enables transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription corepressor activity IGI
Inferred from Genetic Interaction
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 IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of transcription 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
TBL1X receptor 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)

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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.

Genomic

  1. NG_047195.1 RefSeqGene

    Range
    4779..182917
    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
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
    Related
    ENSP00000405574.1, ENST00000430069.5
    Conserved Domains (3) 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:731
    LisH
  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
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
    Related
    ENSP00000387849.3, ENST00000422442.6
    Conserved Domains (3) 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:731
    LisH
  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
    Consensus CDS
    CCDS93428.1
    UniProtKB/TrEMBL
    B7Z475, C9JLJ1
    Conserved Domains (2) 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 ...
    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
    Consensus CDS
    CCDS46961.1
    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
    Related
    ENSP00000263964.11, ENST00000352800.10
    Conserved Domains (3) 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:731
    LisH
  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
    Consensus CDS
    CCDS46961.1
    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
    Conserved Domains (3) 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:731
    LisH
  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
    Consensus CDS
    CCDS46961.1
    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
    Conserved Domains (3) 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:731
    LisH
  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
    Consensus CDS
    CCDS93428.1
    UniProtKB/TrEMBL
    B7Z475, C9JLJ1
    Related
    ENSP00000402402.2, ENST00000431421.6
    Conserved Domains (2) 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 ...
    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
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
    Related
    ENSP00000413251.3, ENST00000457928.7
    Conserved Domains (3) 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:731
    LisH

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    177019344..177201800 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448940.1XP_047304896.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X1

    UniProtKB/TrEMBL
    B7Z475, C9JLJ1
  2. XM_011513142.3XP_011511444.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X4

    See identical proteins and their annotated locations for XP_011511444.1

    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
    Conserved Domains (3) 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:731
    LisH
  3. XM_047448941.1XP_047304897.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X2

    UniProtKB/TrEMBL
    A0A0D9SF63
  4. XM_047448949.1XP_047304905.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X4

    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
    Related
    ENSP00000515886.1, ENST00000704384.1
  5. XM_047448942.1XP_047304898.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X3

    UniProtKB/TrEMBL
    A0A0D9SF63
  6. XM_047448943.1XP_047304899.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X3

    UniProtKB/TrEMBL
    A0A0D9SF63
  7. XM_047448947.1XP_047304903.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X4

    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
    Related
    ENSP00000486324.1, ENST00000631253.2
  8. XM_047448945.1XP_047304901.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X4

    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
  9. XM_047448946.1XP_047304902.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X4

    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
  10. XM_047448944.1XP_047304900.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X4

    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    179822332..180000612 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347894.1XP_054203869.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X4

    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
  2. XM_054347889.1XP_054203864.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X3

    UniProtKB/TrEMBL
    A0A0D9SF63
  3. XM_054347888.1XP_054203863.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X3

    UniProtKB/TrEMBL
    A0A0D9SF63
  4. XM_054347887.1XP_054203862.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X2

    UniProtKB/TrEMBL
    A0A0D9SF63
  5. XM_054347893.1XP_054203868.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X4

    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
  6. XM_054347891.1XP_054203866.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X4

    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
  7. XM_054347892.1XP_054203867.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X4

    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63
  8. XM_054347890.1XP_054203865.1  F-box-like/WD repeat-containing protein TBL1XR1 isoform X4

    UniProtKB/Swiss-Prot
    D3DNQ9, Q14DC3, Q9BZK7, Q9H2I1, Q9H9A1
    UniProtKB/TrEMBL
    A0A0D9SF63