GenAge entry for ATM (Homo sapiens)

Entry selected based on evidence directly linking the gene product to ageing in a mammalian model organism

Gene name (HAGRID: 9)

HGNC symbol: ATM
Aliases: TEL1; TELO1; ATA; ATDC; ATC; ATD
Common name: ATM serine/threonine kinase

Potential relevance to the human ageing process

Main reason for selection

Entry selected based on evidence directly linking the gene product to ageing in a mammalian model organism

Description

ATM is involved diverse aspects of cellular physiology including DNA repair and cell cycle control. It appears to activate DNA repair pathways in response to DNA damage [35]. Mutations in human ATM cause ataxia telangiectasia [190], an early-onset disease some argue is characterized by signs of premature ageing [238]. Patients display cerebellar atrophy and neurodegeneration.

In mouse and worm models that are ATM deficient replenishing intracellular NAD+ reduces the severity of neuropathy, normalizes neuromuscular function, delays memory loss, and extends lifespan [4365]. In mice, mutations in ATM in late-generation TERC mutants with short telomeres results in signs of premature ageing starting at about 6 months of age [12]. In mouse and human cells ATM is required for the recruitment of telomerase and inhibition of ATM leads to shortening of telomeres [4494][4495]. However, it has also been shown that inhibiting ATM attenuates senescence. Inhibiting ATM induces the functional recovery of the lysosome/autophagy system and accelerates the removal of dysfunctional mitochondria [4496]. Overall, it is possible ATM plays a role in human ageing and may link two major theories on ageing: DNA damage accumulation and mitochondrial dysfunction.

Cytogenetic information

Cytogenetic band: 11q22-q23
Location: 108,222,832 bp to 108,369,099 bp
Orientation: Plus strand

Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology

Process:

GO:0000724; double-strand break repair via homologous recombination
GO:0000729; DNA double-strand break processing
GO:0000731; DNA synthesis involved in DNA repair
GO:0000732; strand displacement
GO:0001541; ovarian follicle development
GO:0001666; response to hypoxia
GO:0001756; somitogenesis
GO:0002331; pre-B cell allelic exclusion
GO:0002377; immunoglobulin production
GO:0006260; DNA replication
GO:0006281; DNA repair

And 54 more GO terms

Cellular component:

GO:0000781; chromosome, telomeric region
GO:0000784; nuclear chromosome, telomeric region
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005819; spindle
GO:0031410; cytoplasmic vesicle
GO:1990391; DNA repair complex

Function:

GO:0003677; DNA binding
GO:0004674; protein serine/threonine kinase activity
GO:0004677; DNA-dependent protein kinase activity
GO:0005515; protein binding
GO:0005524; ATP binding
GO:0016303; 1-phosphatidylinositol-3-kinase activity
GO:0032403; protein complex binding
GO:0046983; protein dimerization activity
GO:0047485; protein N-terminus binding

Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge: TP53, ATM, WRN, PEX5, PARP1, BRCA1, HIF1A, RPA1, BLM, ABL1, BRCA2, TOP1, RAD51, TERF1, PRKDC, XRCC5, TERF2, HSPA8, FOXO3, XPA, HDAC1, MAPK14, MED1, BMI1, CREB1, ATF2, E2F1, MDM2, TAF1, RELA, NBN, H2AFX, PPP1CA, ATR, MLH1, CHEK2, SIRT7, TP53BP1
STRING interaction network

Retrieve sequences for ATM

ORF: ORF
CDS: CDS

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

LongevityMap

This gene is present as ATM

CellAge

This gene is present as ATM