LongevityMap Gene

Gene details

HGNC symbol
RNASEH1 
Aliases
RNH1; H1RNA; PEOB2 
Common name
ribonuclease H1 
Description
This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and is necessary for DNA replication and repair. This enzyme is present in both mitochondria and nuclei, which are resulted from translation of a single mRNA with two in-frame initiation start codons. The use of the first start codon produces the mitochondrial isoform and the use of the second start codon produces the nuclear isoform. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF) which overlaps the first initiation start codon in human. An alternately spliced transcript variant has been found which encodes a shorter isoform. This gene has three pseudogenes; two of them are at different locations of chromosome 17 and one of them is on chromosome 1q32.2. [provided by RefSeq, Sep 2014]
Cytogenetic Location
2p25.3
UCSC Genome Browser
View 2p25.3 on the UCSC genome browser
OMIM
604123
Ensembl
ENSG00000171865
UniProt/Swiss-Prot
B3KUD4_HUMAN
Entrez Gene
246243
UniGene
568006
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
rnh-1.0
Danio rerio
rnaseh1
Drosophila melanogaster
rnh1
Mus musculus
Rnaseh1
Rattus norvegicus
Rnaseh1
Schizosaccharomyces pombe
rnh1

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Caucasians
Study Design
Meta-analysis of GWAS in Caucasians from four prospective cohort studies: the Age, Gene/Environment Susceptibility-Reykjavik Study, the Cardiovascular Health Study, the Framingham Heart Study, and the Rotterdam Study participating in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Longevity was defined as survival to age 90 years or older (n = 1,836); the comparison group comprised cohort members who died between the ages of 55 and 80 years (n = 1,955).
Conclusions
There were 273 single-nucleotide polymorphism (SNP) associations with p < .0001, but none reached significance after correcting for multiple testing
Indentifier
rs4595985
Reference