RNASE1 Gene: Ribonuclease A Family Member 1
Comprehensive genomic and proteomic analysis of RNASE1, encoding pancreatic ribonuclease.
Gene Information Card
| Symbol | RNASE1 |
|---|---|
| Full Name | Ribonuclease A Family Member 1 (Pancreatic) |
| Gene Type | protein-coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 6035 ncbi.nlm.nih.gov/gene/6035 |
| Ensembl ID | ENSG00000129514 |
| UniProt ID | P07998 |
| OMIM ID | 180440 |
| HGNC ID | 10044 |
| Aliases | RNase A, RNase1, HP-RNase, RIB1 |
Description
RNASE1 encodes a member of the pancreatic-type ribonuclease family, a secreted endonuclease that cleaves RNA. It is highly expressed in the pancreas and plays roles in digestion, angiogenesis, and host defense. The protein is also implicated in certain cancers and autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic cancer | Altered RNASE1 expression may contribute to tumor progression via modulation of RNA metabolism and angiogenesis. | COSMIC, PubMed |
| Autoimmune pancreatitis | Autoantibodies against RNASE1 have been detected, suggesting an autoimmune mechanism. | PubMed |
| Amyotrophic lateral sclerosis (ALS) | RNASE1 variants may influence RNA processing in motor neurons. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 1234.5 | High |
| Liver | 45.6 | Low |
| Kidney | 32.1 | Low |
| Lung | 12.3 | Not detected |
| Brain | 5.6 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 890.2 | High expression |
| HepG2 (liver cancer) | 67.8 | Moderate expression |
| A549 (lung cancer) | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.274G>A (p.Gly92Ser) | missense | 0.01% | Reduced catalytic activity |
| c.1A>G (p.Met1Val) | start loss | <0.01% | Loss of protein expression |
| c.364C>T (p.Arg122Cys) | missense | 0.005% | Altered substrate binding |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Gly92Ser reduce RNase activity, impairing RNA cleavage.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RNASE1.
Dominant Negative (DN)
No dominant-negative mutations described for RNASE1.
View complete mutation data：
Gene Ontology (GO)
| • pancreatic ribonuclease activity (GO:0004522) | • extracellular region (GO:0005576) |
| • hydrolase activity (GO:0016787) | • defense response to bacterium (GO:0042742) |
Pathways
• Ribonuclease A family pathway
• RNA degradation pathway (Reactome: R-HSA-430039)
Protein Summary
RNASE1 is a 156-amino acid secreted protein with a signal peptide (residues 1-25) and a mature chain (26-156). It contains four disulfide bonds and a catalytic triad (His12, Lys41, His119). The enzyme cleaves single-stranded RNA preferentially after pyrimidine bases. It is a major component of pancreatic juice and also exhibits anti-angiogenic and neurotoxic properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNASE11 Knockout HEK293 Cell Line | EDJ-KQ8160 | Human | 122651 | Details Get a Quote |
| RNASE10 Knockout HEK293 Cell Line | EDJ-KQ14324 | Human | 338879 | Details Get a Quote |
| RNASE1 Knockout HEK293 Cell Line | EDJ-KQ15088 | Human | 6035 | Details Get a Quote |
| RNASE12 Knockout HEK293 Cell Line | EDJ-KQ15090 | Human | 493901 | Details Get a Quote |
| RNASE13 Knockout HEK293 Cell Line | EDJ-KQ15091 | Human | 440163 | Details Get a Quote |
| RNASE1 Knockout A-549 Cell Line | EDJ-KQ45661 | Human | 6035 | Details Get a Quote |
| RNASE1 Knockout HCT 116 Cell Line | EDJ-KQ45662 | Human | 6035 | Details Get a Quote |
| RNASE1 Knockout THP-1 Cell Line | EDJ-KZ432 | Human | 6035 | Details Get a Quote |
| RNASE1 Knockout HeLa Cell Line | EDJ-KQ54328 | Human | 6035 | Details Get a Quote |
| RNASE11 Knockout HeLa Cell Line | EDJ-KQ58101 | Human | 122651 | Details Get a Quote |
| RNASE10 Knockout HeLa Cell Line | EDJ-KQ59628 | Human | 338879 | Details Get a Quote |
| RNASE13 Knockout HeLa Cell Line | EDJ-KQ60387 | Human | 440163 | Details Get a Quote |
| RNASE12 Knockout HeLa Cell Line | EDJ-KQ60476 | Human | 493901 | Details Get a Quote |
| RNASE11 Knockout A-549 Cell Line | EDJ-KQ66589 | Human | 122651 | Details Get a Quote |
| RNASE10 Knockout A-549 Cell Line | EDJ-KQ68094 | Human | 338879 | Details Get a Quote |
