RNASEH1 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | RNASEH1 |
| Official Name | ribonuclease H1 [Source:HGNC Symbol;Acc:HGNC:18466] |
| Ensembl ID | ENSG00000171865 |
| Bio databases IDs | |
| Aliases | ribonuclease H1, RNase H1 |
| Synonyms | H1RNA, LOC100506014, PEOB2, ribonuclease H1, RNH1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RNASEH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNAse H
- ribonuclease H
- nucleic acid binding
- ribonuclease
- enzyme
- protein binding
- Caulimovirus viroplasmin
- identical protein binding
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions type 2
- chromosomal instability
- preeclampsia
- Leigh syndrome
role in cell
- apoptosis
- function
- transcription in
- phosphorylation in
- colony formation
- abnormal morphology
- breakage
- progression
- breakage in
- progression in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RNASEH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA replication, removal of RNA primer
- RNA catabolic process
Cellular Component
Where in the cell the gene product is active
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- nucleic acid binding
- ribonuclease H activity
- RNA binding
- protein binding
- ribonuclease activity