GenAge entry for ATR (Homo sapiens)

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

Gene name (HAGRID: 231)

HGNC symbol
ATR 
Aliases
FRP1; SCKL; SCKL1; MEC1 
Common name
ATR 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

ATR is involved in DNA repair by activating checkpoint signalling during genotoxic stresses including the phosphorylation of ageing-related proteins such as BRCA1 and TP53. Together with ATM, ATR has been suggested to regulate TP53 and WRN [1681].

ATR disruption in mice results in embryonic lethality in homozygous animals while heterozygous mice develop normally but have increased tumour incidence [1679]. Deletion of ATR in young adult mice eliminates 80-90% of proliferating cells and results in several age-related phenotypes accompanied by a depletion of stem and progenitor cells and exhaustion of tissue renewal and homeostatic capacity [1864]. Patients with mutations affecting ATR develop Seckel syndrome, characterized by growth retardation, dwarfism, and mental retardation, clinical features often found in disorders involving impaired DNA-damage responses [1680]. A possible role in human ageing is plausible though further research is necessary to confirm this hypothesis.

Cytogenetic information

Cytogenetic band
3q23
Location
142,449,235 bp to 142,578,826 bp
Orientation
Minus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000077; DNA damage checkpoint
GO:0006260; DNA replication
GO:0006281; DNA repair
GO:0006974; cellular response to DNA damage stimulus
GO:0007049; cell cycle
GO:0007275; multicellular organism development
GO:0008156; negative regulation of DNA replication
GO:0018105; peptidyl-serine phosphorylation
GO:0032212; positive regulation of telomere maintenance via telomerase
GO:0034644; cellular response to UV
GO:0036297; interstrand cross-link repair
And 12 more GO terms
Cellular component: GO:0000784; nuclear chromosome, telomeric region
GO:0005654; nucleoplasm
GO:0005694; chromosome
GO:0005794; Golgi apparatus
GO:0016605; PML body
Function: GO:0003677; DNA binding
GO:0004672; protein kinase activity
GO:0004674; protein serine/threonine kinase activity
GO:0005515; protein binding
GO:0005524; ATP binding
GO:0032405; MutLalpha complex binding
GO:0032407; MutSalpha complex binding
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
TP53, TERT, ATM, WRN, E2F1, EGFR, NBN, BRCA1, RPA1, BLM, HSP90AA1, ABL1, BRCA2, EP300, XRCC5, POLD1, XPA, HDAC1, CREB1, HDAC2, H2AFX, CDKN2A, ATR, CHEK2, PIK3CA
STRING interaction network
Protein-Protein network diagram for ATR

Retrieve sequences for ATR

ORF
ORF
CDS
CDS

Homologs in model organisms

Danio rerio
atr
Drosophila melanogaster
mei-41
Mus musculus
Atr
Rattus norvegicus
Atr
Saccharomyces cerevisiae
MEC1
Schizosaccharomyces pombe
rad3

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as MEC1
LongevityMap
  • This gene is present as ATR

Selected references

External links

EPD
ORF Accession
NM_001184
CDS Accession
NP_001175
OMIM
601215
HPRD
08369
Ensembl
ATR
UniProt/Swiss-Prot
ATR_HUMAN
GeneCards
ATR
Entrez Gene
545
UniGene
271791
GenAtlas
ATR
Internet
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