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 Gene Expression and Regulation of cholesterol biosynthesis by SREBP (SREBF). Gene Ontology (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.