LongevityMap Gene

Gene details

HGNC symbol
APEX1 
Aliases
APE; APX; APE1; APEN; APEX; HAP1; REF1 
Common name
apurinic/apyrimidinic endodeoxyribonuclease 1 
Description
Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]
Cytogenetic Location
14q11.2
UCSC Genome Browser
View 14q11.2 on the UCSC genome browser
OMIM
107748
Ensembl
ENSG00000100823
UniProt/Swiss-Prot
APEX1_HUMAN
Entrez Gene
328
UniGene
73722
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
exo-3
Danio rerio
apex1
Mus musculus
Apex1
Rattus norvegicus
Apex1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as exo-3
GenAge human genes
  • This gene is present as APEX1

Studies (2)

Significant/Non-significant: 0/2

Study 1

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
rs3136820
Reference

    Study 2

    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
    rs3136817
    Reference