LongevityMap variant
- Longevity Association
- Significant
- Population
- Italian
- Study Design
- rs189037 C/T genotype was examined in 128 Italian long-lived individuals (78.1 % females, 98.7 ± 5.1 years; 52.3 % > 100 years) and 150 controls (56.7 % females, 67.2 ± 9.1 years) to study the association with longevity
- Conclusions
- There was association between the rs189037 C/T genotype and longevity in Italian centenarians, with an odds ratio of 1.85 (95 % CI 0.99-3.45)
- HGNC symbol
- ATM
- Aliases
- AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1
- Common name
- ATM serine/threonine kinase
- Description
- The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
- Other longevity studies of this gene
- 14
- OMIM
- 607585
- Ensembl
- ENSG00000149311
- UniProt/Swiss-Prot
- A0A024R3C7_HUMAN
- Entrez Gene
- 472
- UniGene
- 367437
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- atm-1
- Danio rerio
- atm
- Drosophila melanogaster
- tefu
- Mus musculus
- Atm
- Rattus norvegicus
- Atm
- Saccharomyces cerevisiae
- TEL1
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Atm
- GenAge human genes
- This gene is present as ATM
- CellAge
- This gene is present as ATM
Piaceri et al. (2013)
Other variants which are also part of this study