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.

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

GenAge model organism genes

GenAge human genes

CellAge

Debrabant et al. (2014)