TBL1XR1
Domain
The F-box-like domain is related to the F-box domain, and apparently displays the same function as component of ubiquitin E3 ligase complexes.
Function
F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation.
Involvement in disease
Pierpont syndrome
PRPTS
An autosomal dominant syndrome characterized by multiple congenital anomalies, global developmental delay, learning disability, palmar and plantar fat pads, and distinctive facial characteristics, especially when smiling.
None
The disease is caused by variants affecting the gene represented in this entry.
Intellectual developmental disorder, autosomal dominant 41
MRD41
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD41 patients manifest delayed psychomotor development, variable severity of intellectual disability, and delayed language. Non-specific dysmorphic features and autistic behavior is observed in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the WD repeat EBI family.
Tissue Specificity
Widely expressed including the pituitary, hypothalamus, white and brown adipose tissue, muscle and liver.
Cellular localization
- Nucleus
Alternative names
IRA1, TBLR1, TBL1XR1, F-box-like/WD repeat-containing protein TBL1XR1, Nuclear receptor corepressor/HDAC3 complex subunit TBLR1, TBL1-related protein 1, Transducin beta-like 1X-related protein 1