TBL1X
Transducin Beta Like 1 X-Linked: A Core Component of the NCoR/SMRT Corepressor Complex
Gene Information Card
| Symbol | TBL1X |
|---|---|
| Full Name | Transducin Beta Like 1 X-Linked |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 6907 ncbi.nlm.nih.gov/gene/6907 |
| Ensembl ID | ENSG00000170162 |
| UniProt ID | O60907 |
| OMIM ID | 300196 |
| HGNC ID | 11585 |
| Aliases | TBL1, EBI, SMAP-55 |
Description
TBL1X (Transducin Beta Like 1 X-Linked) encodes a protein that is a core component of the NCoR/SMRT corepressor complex. This complex mediates transcriptional repression by recruiting histone deacetylases (HDACs) to target gene promoters. TBL1X is involved in the regulation of various developmental and metabolic processes. Mutations in TBL1X are associated with X-linked intellectual disability, hearing loss, and other developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations impair NCoR/SMRT complex function, disrupting transcriptional repression of genes critical for neuronal development. | ClinVar, OMIM |
| Hearing loss (non-syndromic, X-linked) | Mutations in TBL1X disrupt cochlear development and function, likely through altered gene expression in hair cells. | ClinVar, OMIM |
| Developmental delay with speech and motor impairment | Disruption of TBL1X-mediated transcriptional regulation affects brain development and function. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cochlea | 10.2 | Medium |
| Testis | 8.9 | Medium |
| Heart | 7.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| SH-SY5Y | 11.8 | Medium expression |
| HeLa | 9.4 | Medium expression |
| K562 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1138C>T (p.Arg380*) | Nonsense | Rare | Loss of function; truncated protein likely degraded or non-functional |
| c.124G>A (p.Gly42Arg) | Missense | Rare | Loss of function; disrupts protein folding and complex assembly |
| c.1525C>T (p.Arg509Cys) | Missense | Rare | Loss of function; impairs interaction with HDAC3 |
Mutation functional classification
Loss of Function (LOF)
Most reported TBL1X mutations are loss-of-function, leading to reduced corepressor complex activity and aberrant gene expression.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TBL1X.
Dominant Negative (DN)
No dominant-negative mutations have been described; X-linked inheritance suggests hemizygous loss in males.
View complete mutation data：
Gene Ontology (GO)
| • transcriptional corepressor activity | • chromatin binding |
| • protein-containing complex binding | • negative regulation of transcription by RNA polymerase II |
| • histone deacetylase binding |
Pathways
• NCoR/SMRT corepressor complex
• Chromatin modifying enzymes
• Notch signaling (via HDAC recruitment)
Protein Summary
The TBL1X protein (UniProt O60907) is a 577-amino acid member of the WD40 repeat-containing protein family. It forms a core component of the NCoR/SMRT corepressor complex, where it directly interacts with TBL1XR1, HDAC3, and GPS2. The WD40 repeats mediate protein-protein interactions, allowing TBL1X to recruit the complex to specific transcription factors. TBL1X is essential for proper transcriptional repression of target genes involved in development, metabolism, and cellular differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBL1XR1 Knockout HEK293 Cell Line | EDJ-KQ336 | Human | 79718 | Details Get a Quote |
| TBL1X Knockout HEK293 Cell Line | EDJ-KQ12211 | Human | 6907 | Details Get a Quote |
| TBL1X Knockout A-549 Cell Line | EDJ-KQ40950 | Human | 6907 | Details Get a Quote |
| TBL1X Knockout HCT 116 Cell Line | EDJ-KQ40951 | Human | 6907 | Details Get a Quote |
| TBL1X Knockout HeLa Cell Line | EDJ-KQ40952 | Human | 6907 | Details Get a Quote |
| TBL1XR1 Knockout A-549 Cell Line | EDJ-KQ18505 | Human | 79718 | Details Get a Quote |
| TBL1XR1 Knockout HCT 116 Cell Line | EDJ-KQ18506 | Human | 79718 | Details Get a Quote |
| TBL1XR1 Knockout HeLa Cell Line | EDJ-KQ18507 | Human | 79718 | Details Get a Quote |
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