LongevityMap variant
- 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.
- HGNC symbol
- ERCC1
- Aliases
- UV20; COFS4; RAD10
- Common name
- ERCC excision repair 1, endonuclease non-catalytic subunit
- Description
- The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]
- Other longevity studies of this gene
- 9
- OMIM
- 126380
- Ensembl
- ENSG00000012061
- UniProt/Swiss-Prot
- A0A024R0Q6_HUMAN
- Entrez Gene
- 2067
- UniGene
- 435981
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- ercc-1
- Danio rerio
- ercc1
- Drosophila melanogaster
- Ercc1
- Mus musculus
- Ercc1
- Rattus norvegicus
- Ercc1
- Saccharomyces cerevisiae
- RAD10
- Schizosaccharomyces pombe
- swi10
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as RAD10
- A homolog of this gene for Mus musculus is present as Ercc1
- GenAge human genes
- This gene is present as ERCC1
- CellAge
- This gene is present as ERCC1
Di Cianni et al. (2013)
Other variants which are also part of this study
