Basic Information

Symbol
TBL1XR1
RNA class
mRNA
Alias
TBL1X/Y Related 1 TBLR1 IRA1 F-Box-Like/WD Repeat-Containing Protein TBL1XR1 DC42 C21 Nuclear Receptor Corepressor/HDAC3 Complex Subunit TBLR1 Transducin Beta Like 1 X-Linked Receptor 1 TBL1-Related Protein 1 TBL1X Receptor 1 FLJ12894 Transducin (Beta)-Like 1X-Linked Receptor 1 Transducin Beta-Like 1X-Related Protein 1 TBL1-Related Protein MRD41
Location (GRCh38)
3:177019340-177228000
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Drug abuse diagnoses
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_024665.7
Sequence length
8182.0 nt
GC content
0.3597

Transcripts

ID Sequence Length GC content
NM_001321193.3 NCBI
GCGCGGCAGCCGGGCCUUGCUCCGGGACGUGUUUAUUUGUAACUUAGUG… 7959 nt 0.3451
NM_001321194.3 NCBI
GAACCGUUUGGCUCUUUCCCUUAGUAACAGCUUUUACCUUCUGCCUCAA… 8301 nt 0.3610
NM_001321195.3 NCBI
GCGCGGCAGCCGGGCCUUGCUCCGGGACGUGUUUAUUUGUAACUUAGUG… 7856 nt 0.3446
NM_001374327.1 NCBI
GAACCGUUUGGCUCUUUCCCUUAGUAACAGCUUUUACCUUCUGCCUCAA… 8106 nt 0.3585
NM_001374328.1 NCBI
GCGCGGCAGCCGGGCCUUGCUCCGGGACGUGUUUAUUUGUAACUUAGUG… 7989 nt 0.3450
NM_001374329.1 NCBI
GCGCGGCAGCCGGGCCUUGCUCCGGGACGUGUUUAUUUGUAACUUAGUG… 7970 nt 0.3448
NM_001374330.1 NCBI
GAACCGUUUGGCUCUUUCCCUUAGUAACAGCUUUUACCUUCUGCCUCAA… 8079 nt 0.3593
NM_024665.7 NCBI
GAACCGUUUGGCUCUUUCCCUUAGUAACAGCUUUUACCUUCUGCCUCAA… 8182 nt 0.3597
Summary

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] CIViC Summary for TBL1XR1 Gene

Forensic Context

A study in mice demonstrated that ethanol exposure during neural stem cell differentiation significantly altered the expression of numerous genes, including the TBL1XR1, which was down-regulated at the mRNA level [Mandal et al. DOI:10.1007/S11033-015-3862-1].