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

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; 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

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
TBL1X: At the crossroads of transcriptional and posttranscriptional regulation.
Title: TBL1X: At the crossroads of transcriptional and posttranscriptional regulation.
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.
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.
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.
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.
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.
TBL1X mutations are associated with central hypothyroidism and hearing loss.
Title: Mutations in TBL1X Are Associated With Central Hypothyroidism.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-30326 (e-PCR)
- UniSTS:30232

DXS6702 (e-PCR)
- UniSTS:149805

DXS8051 (e-PCR)
- UniSTS:8797

D10S16 (e-PCR)
- UniSTS:155756

G23087 (e-PCR)
- UniSTS:15743

TBL1X (e-PCR)
- UniSTS:506510

DXS7103 (e-PCR), detects polymorphism
- UniSTS:23952

DXS1137 (e-PCR)
- UniSTS:99733

DXS1313 (e-PCR)
- UniSTS:99744

G13299 (e-PCR)
- UniSTS:42402

RH18266 (e-PCR)
- UniSTS:11181

L77747 (e-PCR)
- UniSTS:53182

DXS9793 (e-PCR)
- UniSTS:22466

TBL1X_8667 (e-PCR)
- UniSTS:467931

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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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

NG_053005.1 RefSeqGene

Range

6764..261446

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]
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]
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]