LongevityMap variant

Entry Details

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.
Identifier
rs3212955
In Other Studies (IDs)
1897
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser

Gene details

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
Schizosaccharomyces pombe
swi10

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Ercc1
GenAge human genes
  • This gene is present as ERCC1

References

Debrabant et al. (2014)

Other variants which are also part of this study