Rabbit anti-Human TBL1XR1 Polyclonal Antibody

Uniprot Id

Q9BZK7

Target Species

Human

Target Name

TBL1XR1

Target Full Name

F-box-like/WD repeat-containing protein TBL1XR1

Target 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.

Target Involvement

Pierpont syndrome (PRPTS); Mental retardation, autosomal dominant 41 (MRD41)

Target Subcellular Location

Nucleus.

Target Protein Families

WD repeat EBI family

Target Tissue Specificity

Widely expressed including the pituitary, hypothalamus, white and brown adipose tissue, muscle and liver.

Target Synonyms

C21; DC42; F box like/WD repeat containing protein TBL1XR1; F-box-like/WD repeat-containing protein TBL1XR1; FLJ12894; IRA1; Nuclear receptor corepressor/HDAC3 complex subunit; Nuclear receptor corepressor/HDAC3 complex subunit TBLR1; TBL1 related protein 1; TBL1-related protein 1; TBL1R_HUMAN; TBL1XR1; TBLR1; Transducin (beta) like 1 X linked receptor 1; Transducin beta like 1X related protein 1; Transducin beta-like 1X-related protein 1

Target Background

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.