LongevityMap variant

Entry Details

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.
Identifier
rs2227928
In Other Studies (IDs)
2793
Cytogenetic Location
3q23
UCSC Genome Browser
View 3q23 on the UCSC genome browser

Gene details

HGNC symbol
ATR
Aliases
FRP1; MEC1; SCKL; FCTCS; SCKL1 
Common name
ATR serine/threonine kinase 
Description
The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
10
OMIM
601215
Ensembl
ENSG00000175054
UniProt/Swiss-Prot
ATR_HUMAN
Entrez Gene
545
UniGene
271791
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
atr
Drosophila melanogaster
mei-41
Mus musculus
Atr
Rattus norvegicus
Atr
Saccharomyces cerevisiae
MEC1
Schizosaccharomyces pombe
rad3

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as MEC1
GenAge human genes
  • This gene is present as ATR

References

Debrabant et al. (2014)

Other variants which are also part of this study