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

    Gene ID: 79718, updated on 9-Jun-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TBL1XR1 in Genome Data Viewer
    Location:
    3q26.32
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (177019344..177201800, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (179822332..180000612, complement)
    105.20220307 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: 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
    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)

    NEW Try the new Transcript table

    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_2023_10

    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