TBL1XR1

This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]

TBL1XR1 Gene(Protein Coding) Transducin Beta Like 1 X-Linked Receptor 1

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.

Biological Process blastocyst hatchingIEA:Ensembl
Biological Process chromatin organizationIEA:UniProtKB-KW
Biological Process fat pad developmentIEA:Ensembl
Biological Process histone deacetylationIBA:GO_Central1 Publication
Biological Process lipid catabolic processIEA:Ensembl
Biological Process multicellular organism growthIEA:Ensembl
Biological Process negative regulation of transcription by RNA polymerase IIIDA:UniProtKB1 Publication
Biological Process positive regulation of canonical Wnt signaling pathwayIMP:UniProtKB1 Publication
Biological Process positive regulation of DNA-templated transcriptionIDA:UniProtKB1 Publication
Biological Process positive regulation of transcription by RNA polymerase IIIDA:UniProtKB1 Publication
Biological Process proteasome-mediated ubiquitin-dependent protein catabolic processISS:UniProtKB
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication
Biological Process regulation of triglyceride metabolic processIEA:Ensembl
Biological Process response to dietary excessIEA:Ensembl
Biological Process white fat cell differentiationIEA:Ensembl

Nucleus

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.
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.