Aliases for TBL1XR1 Gene
External Ids for TBL1XR1 Gene
Previous GeneCards Identifiers for TBL1XR1 Gene
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]
GeneCards Summary for TBL1XR1 Gene
TBL1XR1 (Transducin Beta Like 1 X-Linked Receptor 1) is a Protein Coding gene. Diseases associated with TBL1XR1 include Pierpont Syndrome and Mental Retardation, Autosomal Dominant 41. Among its related pathways are BMAL1-CLOCK,NPAS2 activates circadian gene expression and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include transcription regulatory region DNA binding and histone binding. An important paralog of this gene is TBL1X.
UniProtKB/Swiss-Prot for TBL1XR1 Gene
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.