LongevityMap Gene

Gene details

HGNC symbol
TBL1XR1 
Aliases
C21; DC42; IRA1; MRD41; TBLR1 
Common name
transducin beta like 1 X-linked receptor 1 
Description
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]
Cytogenetic Location
3q26.32
UCSC Genome Browser
View 3q26.32 on the UCSC genome browser
OMIM
608628
Ensembl
ENSG00000177565
UniProt/Swiss-Prot
TBL1R_HUMAN
Entrez Gene
79718
UniGene
714201
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
zgc:110312
Drosophila melanogaster
ebi
Mus musculus
Tbl1xr1
Rattus norvegicus
Tbl1xr1
Schizosaccharomyces pombe
hif2

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study in 801 centenarians and 914 healthy controls
Conclusions
281 SNPs were found to discriminate between cases and controls
Indentifier
rs6443429
Reference