LongevityMap variant
- Longevity Association
- Non-significant
- Population
- Italian (Southern)
- Study Design
- A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
- Conclusions
- After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
- 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
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Atr
- A homolog of this gene for Saccharomyces cerevisiae is present as MEC1
- GenAge human genes
- This gene is present as ATR
- CellAge
- This gene is present as ATR
Di Cianni et al. (2013)
Other variants which are also part of this study