TBL1XR1
TBL1XR1 (TBL1X/Y related 1) is a nuclear F-box-like, WD repeat-containing protein that is required for transcription activation by nuclear receptors. It is also known as IRA1, TBLR1, C21, DC42 and FLJ12894, and is thought to be a component of the N-CoR corepressor complex. Browse Assay Genie's current range of TBL1XR1 research reagents below, or read on for the biology behind the target.
TBL1XR1 is an F-box-like protein involved in recruiting the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. It plays an essential role in transcription activation mediated by nuclear receptors. The protein probably acts as an integral component of the N-Cor corepressor complex, where it mediates recruitment of the 19S proteasome complex. This leads to proteasomal degradation of the N-Cor complex, which allows cofactor exchange and so transcription activation.
The TBL1XR1 gene encodes a member of the WD40 repeat-containing gene family, classed by UniProt in the WD repeat EBI family and by HGNC within the WD repeat domain containing group and the NCoR/SMRT transcriptional repression complex subunits. It shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC3) complexes, and is required for transcriptional activation by a variety of transcription factors. UniProt records its subcellular location as the nucleus. The mouse ortholog is Tbl1xr1.
The name reflects its history as transducin (beta)-like 1X-linked receptor 1, also written TBL1X receptor 1. Mutations in the gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency may cause intellectual disability with dysmorphism. Mutations, as well as recurrent translocations involving the gene, have also been observed in some tumours.
TBL1XR1 is essential for transcription activation mediated by nuclear receptors, making it a focus for studies of ligand-regulated gene expression.
As a probable component of the N-CoR and HDAC3 complexes, it is used to study corepressor exchange and complex turnover.
It helps recruit the ubiquitin/19S proteasome complex to transcription units, linking proteasomal degradation to transcriptional activation.
Mutations are associated with autism spectrum disorders and intellectual disability, and mutations and translocations occur in some tumours.
TBL1XR1 is an F-box-like protein that helps recruit the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. It is probably an integral part of the N-Cor corepressor complex, whose proteasomal degradation allows cofactor exchange and transcription activation.
TBL1XR1 is the HGNC symbol for TBL1X/Y related 1. Aliases include IRA1, TBLR1, C21, DC42 and FLJ12894. Earlier names include transducin (beta)-like 1X-linked receptor 1 and TBL1X receptor 1. UniProt names the protein F-box-like/WD repeat-containing protein TBL1XR1.
Mutations in the TBL1XR1 gene have been associated with some autism spectrum disorders, and haploinsufficiency may cause intellectual disability with dysmorphism. Mutations and recurrent translocations occur in some tumours. A mouse ortholog, Tbl1xr1, exists; check the datasheet of any product for its validated reactivity.
Other WD repeat proteins, corepressor complex components and nuclear receptor signalling targets with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q9BZK7; product specifications from Assay Genie datasheets.