TBL1XR1

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]

Description

transducin beta like 1 X-linked receptor 1

Protein family

Cancer-related genes, Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

3:q26.32 (177019340 - 177228000)

Ensembl ID

ENSG00000177565  (ver. 99.38)

Orthologs

Mouse Tbl1xr1: ENSMUSG00000027630

UniProt

Q9BZK7

neXtProt

NX_Q9BZK7

Human splice variants
Mouse splice variants