Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about RNASEH1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
Essential enzyme for RNA-DNA hybrid processing, mitochondrial DNA maintenance, and genome stability in neurons. Critical for R-loop resolution, with strong evidence for involvement in Alzheimer's, Parkinson's, and other neurodegenerative diseases.
| Gene Symbol | RNASEH1 |
| Full Name | Ribonuclease H1 |
| Chromosome | 2p25.1 |
| Protein Type | Enzyme |
| Function | encodes an essential enzyme that cleaves RNA within RNA-DNA hybrids, playing critical roles in DNA replication, repair, and transcription. |
| Primary Expression | all major brain cell types, with particularly high expression in neurons: |
| Amino Acids | 282 aa |
| UniProt ID | Q9UQ10 |
| NCBI Gene ID | 246246 |
| Ensembl ID | ENSG00000131845 |
| GeneCards | RNASEH1 |
| Human Protein Atlas | RNASEH1 |
| Astrocytes | moderate expression, supporting these cells' roles in metabolic support and neurotransmitter homeostasis. Astrocyte RNASEH1 may also contribute to brain-wide R-loop management. |
| Oligodendrocytes | important for myelin maintenance, which requires ongoing protein synthesis and membrane production. RNASEH1 supports the high metabolic demands of oligodendrocyte function. |
| Microglia | expression increases in response to neuroinflammation, suggesting roles in the DNA damage response that accompanies microglial activation. |
| Associated Diseases | Als, Breast Cancer, Cancer, Tumor |
| KG Connections | 27 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
graph TD
RNASEH1["RNASEH1 (RNase H1)"]
MTDNA["Mitochondrial DNA"]
MITOCHONDRIA["Mitochondria"]
POLG2["POLG2 (DNA Polymerase gamma)"]
TWNK["TWNK (Twinkle Helicase)"]
TK2["TK2 (Thymidine Kinase 2)"]
RRM2B["RRM2B (Ribonucleotide Reductase)"]
OPA1["OPA1 (Optic Atrophy 1)"]
MFN2["MFN2 (Mitofusin 2)"]
DNA_REPAIR["DNA Repair Process"]
MTDNA_DEPLETION["mtDNA Depletion"]
ALS["Amyotrophic Lateral Sclerosis"]
MITO_DYSFUNCTION["Mitochondrial Dysfunction"]
NEURODEGENERATION["Neurodegeneration"]
RNASEH1 -->|"processes RNA-DNA hybrids"| MTDNA
RNASEH1 -->|"maintains integrity"| DNA_REPAIR
POLG2 -->|"replicates"| MTDNA
TWNK -->|"unwinds"| MTDNA
TK2 -->|"provides nucleotides"| MTDNA
RRM2B -->|"supplies dNTPs"| MTDNA
RNASEH1 -->|"dysfunction causes"| MTDNA_DEPLETION
MTDNA_DEPLETION -->|"impairs"| MITOCHONDRIA
MITOCHONDRIA -->|"dysfunction leads to"| MITO_DYSFUNCTION
OPA1 -->|"regulates"| MITOCHONDRIA
MFN2 -->|"controls fusion"| MITOCHONDRIA
RNASEH1 -->|"mutations cause"| ALS
MITO_DYSFUNCTION -->|"promotes"| NEURODEGENERATION
ALS -->|"is form of"| NEURODEGENERATION
style RNASEH1 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0
style DNA_REPAIR fill:#1b5e20,stroke:#4caf50,stroke-width:2px
style POLG2 fill:#4a1a6b,stroke:#9c27b0,stroke-width:2px
style TWNK fill:#4a1a6b,stroke:#9c27b0,stroke-width:2px
style TK2 fill:#4a1a6b,stroke:#9c27b0,stroke-width:2px
style RRM2B fill:#4a1a6b,stroke:#9c27b0,stroke-width:2px
style OPA1 fill:#4a1a6b,stroke:#9c27b0,stroke-width:2px
style MFN2 fill:#4a1a6b,stroke:#9c27b0,stroke-width:2px
style MTDNA_DEPLETION fill:#ef5350,stroke:#f44336,stroke-width:2px
style MITO_DYSFUNCTION fill:#ef5350,stroke:#f44336,stroke-width:2px
style ALS fill:#7d4200,stroke:#ff9800,stroke-width:2px
style NEURODEGENERATION fill:#7d4200,stroke:#ff9800,stroke-width:2px| Target | Relation | Type | Str |
|---|---|---|---|
| Tumor | causes | disease | 0.65 |
| Breast Cancer | causes | disease | 0.65 |
| Cancer | causes | disease | 0.65 |
| Als | causes | disease | 0.65 |
| MYC | causes | gene | 0.60 |
| OPA1 | associated_with | gene | 0.60 |
| TWNK | associated_with | gene | 0.60 |
| MPV17 | associated_with | gene | 0.60 |
| DGUOK | associated_with | gene | 0.60 |
| DNA | causes | gene | 0.60 |
| CANCER | causes | gene | 0.60 |
| MITOCHONDRIAL DNA | associated_with | gene | 0.60 |
| AND | associated_with | gene | 0.60 |
| MTDNA | associated_with | gene | 0.60 |
| MITOCHONDRIA | associated_with | gene | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| POLG2 | associated_with | gene | 0.60 |
| SLC25A4 | associated_with | gene | 0.60 |
| MFN2 | associated_with | gene | 0.60 |
| TYMP | associated_with | gene | 0.60 |
| RRM2B | associated_with | gene | 0.60 |
| TK2 | associated_with | gene | 0.60 |
| SUCLA2 | associated_with | gene | 0.60 |
| SUCLG1 | associated_with | gene | 0.60 |
| TFAM | associated_with | gene | 0.60 |
| POLG | associated_with | gene | 0.60 |
| GENES | associated_with | gene | 0.60 |
| DNA | associated_with | gene | 0.60 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||