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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for TBL1X (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID6907
Official gene symbolTBL1X
Full nametransducin (beta)-like 1X-linked
Aliases,EBI,SMAP55,TBL1,
Gene summaryThe 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]
LocationChromosome: X   Locus: Xp22.3
Gene position9431335 - 9687780  Map Viewer
Gene orientationplus
Gene size256446 bp
Gene sequence
OMIM ID300196