LongevityMap Gene

Gene details

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]
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser
OMIM
607585
Ensembl
ENSG00000149311
UniProt/Swiss-Prot
A0A024R3C7_HUMAN
Entrez Gene
472
UniGene
367437
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
atm
Drosophila melanogaster
tefu
Mus musculus
Atm
Rattus norvegicus
Atm

In other databases

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

Studies (4)

Significant/Non-significant: 2/2

Study 1

Longevity Association
Significant
Population
Chinese (Han)
Study Design
SNP rs189037 in the promoter region of ATM gene was studied in 789 long-long lived individuals and 886 controls
Conclusions
A significant association between CT genotype and longevity was observed. The CT genotype showed higher frequency in long-lived individuals than in controls (53.0% versus 45.9%, P = 0.004).
Indentifier
rs189037
Reference

    Study 2

    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)
    Indentifier
    rs189037
    Reference

      Study 3

      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.
      Indentifier
      rs664677
      Reference

        Study 4

        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
        rs664677
        Reference