LongevityMap Gene

Gene details

HGNC symbol: XRCC5
Aliases: KU80; KUB2; Ku86; NFIV; KARP1; KARP-1
Common name: X-ray repair cross complementing 5
Description: The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
Cytogenetic Location: 2q35
UCSC Genome Browser: View 2q35 on the UCSC genome browser
OMIM: 194364
Ensembl: ENSG00000079246
UniProt/Swiss-Prot: XRCC5_HUMAN
Entrez Gene: 7520
UniGene: 388739
1000 Genomes: 1000 Genomes

Homologs in model organisms

Danio rerio: xrcc5
Drosophila melanogaster: Ku80
Mus musculus: Xrcc5
Rattus norvegicus: Xrcc5
Schizosaccharomyces pombe: pku80

In other databases

GenAge model organism genes

A homolog of this gene for Mus musculus is present as Xrcc5

GenAge human genes

This gene is present as XRCC5

Studies (3)

Significant/Non-significant: 1/2

Study 1

Longevity Association

Non-significant

Population

Study Design

[GAPyA]n microsatellite located 120 kb 5' of XRCC5 was examined in a cohort of newborns (n=290) and a retired population (average age at sampling 70.02 years; n=430)

Conclusions

No evidence of association with longevity was found

Indentifier

Reference

Study 2

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: Six SNPs (in TNXRD1, XDH, GHRL, MLH1, H2AFX, XRCC5) were associated with mortality in late life after correction for multiple hypothesis testing. No replications were observed in German and Dutch populations.
Indentifier

Study 3

Longevity Association: Non-significant
Population: Danish
Study Design: 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
Conclusions: The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
Indentifier