Aliases for TBL1X Gene
External Ids for TBL1X Gene
Previous HGNC Symbols for TBL1X Gene
Previous GeneCards Identifiers for TBL1X Gene
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008]
GeneCards Summary for TBL1X Gene
TBL1X (Transducin Beta Like 1 X-Linked) is a Protein Coding gene. Diseases associated with TBL1X include Hypothyroidism, Congenital, Nongoitrous, 8 and Ocular Albinism. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include transcription factor binding and transcription regulatory region DNA binding. An important paralog of this gene is TBL1Y.
UniProtKB/Swiss-Prot Summary for TBL1X Gene
F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219). Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (PubMed:21240272).