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

Caenorhabditis elegans
cku-80
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
English
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
XRCC5
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
    rs705649
    Reference

      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
      rs3834
      Reference