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
- Drosophila melanogaster
- Rrp1
- Mus musculus
- Apex1
- Rattus norvegicus
- Apex1
- Saccharomyces cerevisiae
- APN2
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
- CellAge
- This gene is present as APEX1
- CellAge gene expression
- This gene is present as APEX1
Studies (2)
Significant/Non-significant: 0/2
Study 1
- 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
Study 2
- 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