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 in 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]. As such, it is possible ATM plays a role in human ageing and may link two major theories on aging: 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
Protein-Protein network diagram for ATM

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

Selected references

External links

EPD
ORF Accession
NM_000051
CDS Accession
NP_000042
OMIM
607585
HPRD
06347
Ensembl
ATM
UniProt/Swiss-Prot
ATM_HUMAN
GeneCards
ATM
Entrez Gene
472
UniGene
367437
GenAtlas
ATM
Internet
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