LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Danish
Study Design
Alleles in candidate pathways (GH/IGF1 signaling, DNA damage signaling and repair and pro/antioxidants) were investigated for association with longevity in 1089 oldest-old (age 92-93) and 736 middle-aged Danes
Conclusions
Eleven SNPs (in GSR, KL, GHRHR, INS, GHSR, IGF2R, RAD52, WRN, RAD23B, POLB and NTLH1) were associated with longevity after correction for multiple hypothesis testing. No replications were observed in German and Dutch populations.
Identifier
rs1805329
In Other Studies (IDs)
3282
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser

Gene details

HGNC symbol
RAD23B
Aliases
P58; HR23B; HHR23B 
Common name
RAD23 homolog B, nucleotide excision repair protein 
Description
The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011]
Other longevity studies of this gene
13
OMIM
600062
Ensembl
ENSG00000119318
UniProt/Swiss-Prot
B7Z4W4_HUMAN
Entrez Gene
5887
UniGene
521640
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
rad23b
Mus musculus
Rad23b
Rattus norvegicus
Rad23b

References

Soerensen et al. (2012)

Other variants which are also part of this study