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

Caenorhabditis elegans: atm-1
Danio rerio: atm
Drosophila melanogaster: tefu
Mus musculus: Atm
Rattus norvegicus: Atm
Saccharomyces cerevisiae: TEL1

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

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

Study 3

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

Study 4

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