Aliases for RNASEH1 Gene
External Ids for RNASEH1 Gene
Previous GeneCards Identifiers for RNASEH1 Gene
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]
GeneCards Summary for RNASEH1 Gene
RNASEH1 (Ribonuclease H1) is a Protein Coding gene. Diseases associated with RNASEH1 include progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 and adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and DNA strand elongation. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is ENSG00000255767.
UniProtKB/Swiss-Prot for RNASEH1 Gene
Endonuclease that specifically degrades the RNA of RNA-DNA hybrids (PubMed:10497183). Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site and behind the elongating RNAp II (PubMed:21700224).