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
- Caenorhabditis elegans
- rnh-1.3
- Danio rerio
- rnaseh1
- Drosophila melanogaster
- rnh1
- Mus musculus
- Rnaseh1
- Rattus norvegicus
- Rnaseh1
- Saccharomyces cerevisiae
- RNH1
- 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