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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RNASEH1
ribonuclease H1
Chromosome 2 Β· 2p25.3
NCBI Gene: 246243Ensembl: ENSG00000171865.11HGNC: HGNC:18466UniProt: B3KUD4
69PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionRNA-DNA hybrid ribonuclease activityprotein bindingDNA replication, removal of RNA primerprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2genetic disorderadult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyviral disease
✦AI Summary

RNASEH1 encodes ribonuclease H1, an endonuclease that specifically degrades the RNA component of RNA-DNA hybrids 1. The enzyme plays critical roles in both nuclear and mitochondrial processes. In the nucleus, RNASEH1 contributes to RNA polymerase II transcription termination by degrading R-loop structures at G-rich pause sites downstream of polyadenylation signals 2. RNASEH1 also regulates R-loops formed during active transcription at gene promoters, particularly those with G/C skew 3, and prevents transcription-replication collisions by facilitating R-loop resolution 4. Additionally, RNASEH1 promotes homologous recombination by resolving R-loops and facilitating recombinase recruitment during both mitotic DNA repair 5 and meiotic recombination 6. In mitochondria, RNASEH1 is essential for mtDNA replication, functioning as part of the mitochondrial replisome 7. Pathogenic variants in RNASEH1 cause progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal recessive 2), a mitochondrial DNA maintenance disorder characterized by mtDNA depletion and deletions 7. Recently, a non-coding RNASEH1 variant (rs7607888) has been associated with type 1 diabetes susceptibility, with demonstrated interaction with HLA alleles 8.

Sources cited
1
RNASEH1 is an endonuclease that specifically degrades RNA in RNA-DNA hybrids
PMID: 10497183
2
RNASEH1 degrades R-loop RNA-DNA hybrids at G-rich pause sites during RNAp II transcription termination
PMID: 21700224
3
R-loops form predominantly near gene promoters with G/C skew and correlate with transcriptional pausing
PMID: 29104020
4
RNaseH1 overexpression removes R-loops and suppresses transcription-replication collisions
PMID: 33357438
5
ARID1A-containing BAF complexes promote RNaseH1 recruitment to facilitate R-loop resolution and DNA repair
PMID: 37470997
6
RNase H1 degrades DNA-RNA hybrids to facilitate recombinase recruitment during meiotic recombination
PMID: 37378420
7
RNASEH1 is part of mtDNA replication machinery; pathogenic variants cause mitochondrial DNA maintenance disorders with progressive external ophthalmoplegia
PMID: 28215579
8
Non-coding RNASEH1 variant rs7607888 associates with type 1 diabetes and interacts with HLA alleles
PMID: 32447804
Disease Associationsβ“˜21
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2Open Targets
0.75Strong
genetic disorderOpen Targets
0.41Moderate
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyOpen Targets
0.37Weak
viral diseaseOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
infectionOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
restless legs syndromeOpen Targets
0.04Suggestive
mitochondrial diseaseOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
movement disorderOpen Targets
0.03Suggestive
Barth syndromeOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
HepatitisOpen Targets
0.03Suggestive
ovarian dysfunctionOpen Targets
0.03Suggestive
abnormal chest soundsOpen Targets
0.03Suggestive
brain aneurysmOpen Targets
0.03Suggestive
Tietze syndromeOpen Targets
0.03Suggestive
laryngeal carcinomaOpen Targets
0.02Suggestive
thrombophiliaOpen Targets
0.02Suggestive
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2UniProt
Pathogenic Variants6
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile)Pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2|not provided|Inborn genetic diseases|Possible mitochondrial disorder - nuclear genes
β˜…β˜…β˜†β˜†2026β†’ Residue 142
NM_002936.6(RNASEH1):c.344del (p.Ala115fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 115
NM_002936.6(RNASEH1):c.442T>C (p.Cys148Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 148
NM_002936.6(RNASEH1):c.469C>T (p.Arg157Ter)Likely pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2|not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 157
NM_002936.6(RNASEH1):c.325dup (p.Glu109fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 109
NM_002936.6(RNASEH1):c.554C>T (p.Ala185Val)Pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
β˜†β˜†β˜†β˜†2015β†’ Residue 185
View on ClinVar β†—
Related Genes
RNASEH2AProtein interaction95%GAPDHProtein interaction94%FEN1Protein interaction90%TWNKProtein interaction87%ATXN8Protein interaction87%TYMSProtein interaction85%
Tissue Expression6 tissues
Heart
100%
Brain
95%
Bone Marrow
68%
Lung
57%
Liver
52%
Ovary
46%
Gene Interaction Network
Click a node to explore
RNASEH1RNASEH2AGAPDHFEN1TWNKATXN8TYMS
PROTEIN STRUCTURE
Preparing viewer…
PDB6VRD Β· 1.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.16LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.55–1.16]
RankingsWhere RNASEH1 stands among ~20K protein-coding genes
  • #6,837of 20,598
    Most Researched69
  • #3,368of 5,498
    Most Pathogenic Variants6
  • #12,156of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedRNASEH1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mitochondrial DNA maintenance defects.
PMID: 28215579
Biochim Biophys Acta Mol Basis Dis Β· 2017
1.00
2
Nucleolar RNA polymerase II drives ribosome biogenesis.
PMID: 32669707
Nature Β· 2020
0.90
3
Topoisomerase 1 Inhibition in MYC-Driven Cancer Promotes Aberrant R-Loop Accumulation to Induce Synthetic Lethality.
PMID: 37987734
Cancer Res Β· 2023
0.80
4
R-ChIP Using Inactive RNase H Reveals Dynamic Coupling of R-loops with Transcriptional Pausing at Gene Promoters.
PMID: 29104020
Mol Cell Β· 2017
0.70
5
RTEL1 Regulates G4/R-Loops to Avert Replication-Transcription Collisions.
PMID: 33357438
Cell Rep Β· 2020
0.60