Gene

RNASEH1

Species
Homo sapiens
Symbol
RNASEH1
Name
ribonuclease H1
Synonyms
  • H1RNA
  • PEOB2
Biotype
protein coding gene
Automated Description
Enables RNA-DNA hybrid ribonuclease activity. Predicted to be involved in DNA replication, removal of RNA primer. Predicted to act upstream of or within mitochondrial DNA replication. Located in mitochondrion. Implicated in autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10642
No data available
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            3.535M3.540M3.545M3.550M3.555M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            RNASEH1 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
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              Genetic Interactions

              RNASEH1 role
              RNASEH1 genetic perturbation
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