protein
F-box-like/WD repeat-containing protein TBL1XR1
Gene
TBL1XR1
Organism
Homo sapiens(9606)
Length
514 aa
Mass
55,595 Da
TBL1XR1 is an F-box-like protein involved in nuclear receptor-mediated transcription. It functions as a component of the N-Cor corepressor complex, facilitating the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated genes. This activity enables proteasomal degradation of the N-Cor complex itself, allowing cofactor exchange and transcription activation (UniProt: Q9BZK7).
TBL1XR1 is associated with two autosomal dominant developmental disorders. Pierpont syndrome (PRPTS) features multiple congenital anomalies, developmental delay, learning disability, and distinctive facial characteristics. Intellectual developmental disorder, autosomal dominant 41 (MRD41) presents with delayed psychomotor development, variable intellectual disability, and language delay, with some patients exhibiting autistic behaviors and non-specific dysmorphic features (UniProt: Q9BZK7).
TBL1XR1 is classified as a SFARI category 2 syndromic gene (SFARI Cat 2), reflecting its established association with neurodevelopmental disorders that include autism-related features in some patients with MRD41.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
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
Disease associations
Pierpont syndromePRPTS
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.
Intellectual developmental disorder, autosomal dominant 41MRD41
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.
Sources
Last updated 5/6/2026, 5:23:44 AM