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

Gene ID: 6907, updated on 9-Feb-2020

Summary

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
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

Genomic context

See TBL1X in Genome Data Viewer
Location:
Xp22.31-p22.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (9463295..9719740)
105 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 LOC107985634 Neighboring gene chromodomain Y-like protein pseudogene Neighboring gene Sharpr-MPRA regulatory region 7028 Neighboring gene uncharacterized LOC105373126 Neighboring gene G protein-coupled receptor 143 Neighboring gene uncharacterized LOC107985658 Neighboring gene shroom family member 2

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
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8
MedGen: CN262333 OMIM: 301033 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific 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 factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
histone deacetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
protein stabilization ISS
Inferred from Sequence or Structural Similarity
more info
 
proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 TBL1X
Names
transducin beta like 1X-linked
transducin beta-like protein 1X
transducin-beta-like protein 1, X-linked

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_053005.1 RefSeqGene

    Range
    5001..261446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001139466.1NP_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
    O60907
    UniProtKB/TrEMBL
    A0A024RBV9
    Related
    ENSP00000385988.2, ENST00000407597.6
    Conserved Domains (4) summary
    COG2319
    Location:215577
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:227533
    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:5783
    LisH; LisH
    sd00039
    Location:235282
    7WD40; WD40 repeat [structural motif]
  2. NM_001139467.1NP_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/Swiss-Prot
    O60907
    Related
    ENSP00000394097.1, ENST00000424279.5
    Conserved Domains (4) summary
    COG2319
    Location:164526
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:176482
    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:632
    LisH; LisH
    sd00039
    Location:184231
    7WD40; WD40 repeat [structural motif]
  3. NM_001139468.1NP_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/Swiss-Prot
    O60907
    Related
    ENSP00000370348.1, ENST00000380961.5
    Conserved Domains (4) summary
    COG2319
    Location:164526
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:176482
    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:632
    LisH; LisH
    sd00039
    Location:184231
    7WD40; WD40 repeat [structural motif]
  4. NM_005647.4NP_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
    O60907
    UniProtKB/TrEMBL
    A0A024RBV9
    Related
    ENSP00000496215.1, ENST00000645353.2
    Conserved Domains (4) summary
    COG2319
    Location:215577
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:227533
    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:5783
    LisH; LisH
    sd00039
    Location:235282
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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