RNH1: Ribonuclease/Angiogenin Inhibitor 1
A key regulator of angiogenin activity and RNA metabolism
Gene Information Card
| Symbol | RNH1 |
|---|---|
| Full Name | ribonuclease/angiogenin inhibitor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 6050 ncbi.nlm.nih.gov/gene/6050 |
| Ensembl ID | ENSG00000123191 |
| UniProt ID | P13489 |
| OMIM ID | 173320 |
| HGNC ID | 10073 |
| Aliases | RAI, RNH, MGC18216 |
Description
RNH1 encodes a 50-kDa cytoplasmic protein that functions as a potent inhibitor of pancreatic-type ribonucleases, including angiogenin. It binds with high affinity to RNase A and angiogenin, regulating their enzymatic activities and thereby influencing RNA metabolism, angiogenesis, and cellular stress responses. The protein is widely expressed and plays a role in protecting cells from extracellular RNase-induced cytotoxicity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | Loss of RNH1 function leads to increased angiogenin activity, promoting motor neuron degeneration through altered RNA processing | PMID: 22961547 |
| Prostate cancer | Reduced RNH1 expression correlates with increased angiogenin-mediated angiogenesis and tumor progression | PMID: 11751637 |
| Hereditary hemorrhagic telangiectasia (HHT) | Dysregulation of angiogenin inhibition by RNH1 may contribute to vascular malformations | PMID: 16865293 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 6.5 | Low |
| Brain | 4.2 | Low |
| Lung | 8.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HEK293 | 11.7 | Embryonic kidney cells |
| HepG2 | 13.5 | Hepatocellular carcinoma cells |
| A549 | 9.4 | Lung adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Reduced inhibitor activity |
| c.215C>T | Nonsense | <0.01% | Premature truncation, loss of function |
| c.458G>A | Missense | <0.01% | Altered binding affinity to angiogenin |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish ribonuclease inhibitory activity, leading to increased angiogenin activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Angiogenin-mediated angiogenesis pathway
• Ribonuclease A pathway
• Cellular response to stress
Protein Summary
The RNH1 protein is a 461-amino-acid leucine-rich repeat (LRR) protein that forms a horseshoe-shaped structure. It binds to ribonucleases such as RNase A and angiogenin with femtomolar affinity, inhibiting their enzymatic activity. This inhibition is critical for controlling RNA degradation, angiogenesis, and neuroprotection. The protein is predominantly cytoplasmic and is involved in stress granule formation and tRNA processing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNH1 Knockout HEK293 Cell Line | EDJ-KQ5678 | Human | 6050 | Details Get a Quote |
| RNH1 Knockout A-549 Cell Line | EDJ-KQ29027 | Human | 6050 | Details Get a Quote |
| RNH1 Knockout HCT 116 Cell Line | EDJ-KQ29028 | Human | 6050 | Details Get a Quote |
| RNH1 Knockout HeLa Cell Line | EDJ-KQ29029 | Human | 6050 | Details Get a Quote |
