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 plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the mitochondria or to the nucleus. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF). Mutations in this gene have been found in individuals with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2. Alternative splicing results in additional coding and non-coding transcript variants. Pseudogenes of this gene have been defined on chromosomes 2 and 17. [provided by RefSeq, Jul 2017]
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 Mitochondrial Myopathy. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis. Gene Ontology (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).