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    TBL1X transducin beta like 1 X-linked [ Homo sapiens (human) ]

    Gene ID: 6907, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TBL1Xprovided by HGNC
    Official Full Name
    transducin beta like 1 X-linkedprovided by HGNC
    Primary source
    HGNC:HGNC:11585
    See related
    Ensembl:ENSG00000101849 MIM:300196; AllianceGenome:HGNC:11585
    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
    EBI; TBL1; CHNG8; SMAP55
    Summary
    The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 23.1), prostate (RPKM 12.2) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See TBL1X in Genome Data Viewer
    Location:
    Xp22.31-p22.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (9463295..9719740)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (9045885..9302376)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (9431335..9687780)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905242 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9260651-9261238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29398 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:9320474-9321673 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:9374111-9375310 Neighboring gene uncharacterized LOC107985634 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:9382495-9382700 Neighboring gene chromodomain Y like protein pseudogene Neighboring gene MPRA-validated peak7356 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chrX:9420158-9420316 Neighboring gene Sharpr-MPRA regulatory region 2097 Neighboring gene Sharpr-MPRA regulatory region 7028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9431698-9432526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9471641-9472141 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9490972-9491496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29402 Neighboring gene Sharpr-MPRA regulatory region 11092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9500568-9501137 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9528031-9528532 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9528533-9529032 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9536306-9537137 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9537138-9537968 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chrX:9554716-9555236 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chrX:9555237-9555756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9561459-9561960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9561961-9562460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9603687-9604186 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:9629664-9630863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9650484-9650984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9675799-9676456 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9676457-9677113 Neighboring gene uncharacterized LOC105373126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9732793-9733294 Neighboring gene G protein-coupled receptor 143 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9761068-9761591 Neighboring gene shroom family member 2 Neighboring gene eukaryotic translation initiation factor 5 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Mutations in TBL1X Are Associated With Central Hypothyroidism. Heinen CA, et al. J Clin Endocrinol Metab, 2016 Dec. PMID 27603907, Free PMC Article
    2. Novel functional features of the Lis-H domain: role in protein dimerization, half-life and cellular localization. Gerlitz G, et al. Cell Cycle, 2005 Nov. PMID 16258276
    3. Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4. Lauffer P, et al. Thyroid, 2023 Jul. PMID 36860195
    4. TBL1X: At the crossroads of transcriptional and posttranscriptional regulation. Pray BA, et al. Exp Hematol, 2022 Dec. PMID 36206873, Free PMC Article
    5. SUMOylation of TBL1 and TBLR1 promotes androgen-independent prostate cancer cell growth. Park SY, et al. Oncotarget, 2016 Jul 5. PMID 27129164, Free PMC Article

    See all (83) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Long noncoding RNA MIAT regulates TP53 ubiquitination and expedites prostate adenocarcinoma progression by recruiting TBL1X.
      Title: Long noncoding RNA MIAT regulates TP53 ubiquitination and expedites prostate adenocarcinoma progression by recruiting TBL1X.
    2. Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4.
      Title: Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4.
    3. TBL1X: At the crossroads of transcriptional and posttranscriptional regulation.
      Title: TBL1X: At the crossroads of transcriptional and posttranscriptional regulation.
    4. Transducin beta-like protein 1 controls multiple oncogenic networks in diffuse large B-cell lymphoma.
      Title: Transducin β-like protein 1 controls multiple oncogenic networks in diffuse large B-cell lymphoma.
    5. TBL1X deletion is associated with Ocular albinism with infertility and late-onset sensorineural hearing loss.
      Title: Ocular albinism with infertility and late-onset sensorineural hearing loss.
    6. TBL1X mRNA and protein expression were significantly increased in the gestational diabetes mellitus placenta. TBL1X is a potential target of miR-138-5p contributed to the abnormal growth of the placenta by enhancing the proliferation of trophoblasts.
      Title: Integrated Transcriptome Sequencing Analysis Reveals Role of miR-138-5p/ TBL1X in Placenta from Gestational Diabetes Mellitus.
    7. missense mutations in the gene for TBLR1 that are associated with intellectual disability also prevent MeCP2 binding
      Title: Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
    8. Targeted SUMOylation of TBL1 and TBLR1 may be a useful strategy for therapeutic treatment of androgen-independent prostate cancer.
      Title: SUMOylation of TBL1 and TBLR1 promotes androgen-independent prostate cancer cell growth.
    9. TBL1X mutations are associated with central hypothyroidism and hearing loss.
      Title: Mutations in TBL1X Are Associated With Central Hypothyroidism.
    10. Here, the authors show that transcriptional co-factor Transducin beta-like (TBL) 1 was over-expressed in both human and murine pancreatic ductal adenocarcinoma and TBL1 deficiency both prevented and reversed pancreatic tumor growth.
      Title: Transcriptional co-factor Transducin beta-like (TBL) 1 acts as a checkpoint in pancreatic cancer malignancy.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hypothyroidism, congenital, nongoitrous, 8
    MedGen: C5231395 OMIM: 301033 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of transducin (beta)-like 1X-linked (TBL1X) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    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 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 
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein stabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteolysis 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
    		  
    involved_in sensory perception of sound 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 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

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    Preferred Names
    F-box-like/WD repeat-containing protein TBL1X
    Names
    transducin beta like 1X-linked
    transducin beta-like protein 1X
    transducin-beta-like protein 1, X-linked

    NCBI Reference Sequences (RefSeq)

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    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_053005.1 RefSeqGene

      Range
      6764..261446
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001139466.1 → NP_001132938.1  F-box-like/WD repeat-containing protein TBL1X isoform a

      See identical proteins and their annotated locations for NP_001132938.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AC003036, AK289409, AK290962, BC052304
      Consensus CDS
      CCDS14133.1
      UniProtKB/Swiss-Prot
      A8K044, A8K4J7, O60907, Q86UY2
      UniProtKB/TrEMBL
      A0A2R8YFW3
      Related
      ENSP00000385988.2, ENST00000407597.7
      Conserved Domains (4) summary
      COG2319
      Location:215 → 577
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:227 → 533
      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 ...
      pfam08513
      Location:57 → 83
      LisH; LisH
      sd00039
      Location:235 → 282
      7WD40; WD40 repeat [structural motif]

    2. NM_001139467.1 → NP_001132939.1  F-box-like/WD repeat-containing protein TBL1X isoform b

      See identical proteins and their annotated locations for NP_001132939.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks the alternate first coding exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode isoform b.
      Source sequence(s)
      AC003036, AK289409, BC052304
      Consensus CDS
      CCDS48078.1
      UniProtKB/TrEMBL
      A0A2R8YFW3
      Related
      ENSP00000394097.1, ENST00000424279.6
      Conserved Domains (4) summary
      COG2319
      Location:164 → 526
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:176 → 482
      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 ...
      pfam08513
      Location:6 → 32
      LisH; LisH
      sd00039
      Location:184 → 231
      7WD40; WD40 repeat [structural motif]

    3. NM_001139468.1 → NP_001132940.1  F-box-like/WD repeat-containing protein TBL1X isoform b

      See identical proteins and their annotated locations for NP_001132940.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks the alternate first coding exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode isoform b.
      Source sequence(s)
      AC003036, AK289409, BC032708, BC052304
      Consensus CDS
      CCDS48078.1
      UniProtKB/TrEMBL
      A0A2R8YFW3
      Related
      ENSP00000370348.1, ENST00000380961.5
      Conserved Domains (4) summary
      COG2319
      Location:164 → 526
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:176 → 482
      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 ...
      pfam08513
      Location:6 → 32
      LisH; LisH
      sd00039
      Location:184 → 231
      7WD40; WD40 repeat [structural motif]

    4. NM_005647.4 → NP_005638.1  F-box-like/WD repeat-containing protein TBL1X isoform a

      See identical proteins and their annotated locations for NP_005638.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AC003036, AC073488, BC052304
      Consensus CDS
      CCDS14133.1
      UniProtKB/Swiss-Prot
      A8K044, A8K4J7, O60907, Q86UY2
      UniProtKB/TrEMBL
      A0A2R8YFW3
      Related
      ENSP00000496215.1, ENST00000645353.2
      Conserved Domains (4) summary
      COG2319
      Location:215 → 577
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:227 → 533
      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 ...
      pfam08513
      Location:57 → 83
      LisH; LisH
      sd00039
      Location:235 → 282
      7WD40; WD40 repeat [structural motif]

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      9463295..9719740
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      9045885..9302376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60907.3 GenPept UniProtKB/Swiss-Prot:O60907

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