NPR1 Gene (Natriuretic Peptide Receptor 1)
Guanylyl Cyclase Receptor for Atrial and B-Type Natriuretic Peptides
Gene Information Card
| Symbol | NPR1 |
|---|---|
| Full Name | Natriuretic Peptide Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 4881 ncbi.nlm.nih.gov/gene/4881 |
| Ensembl ID | ENSG00000169418 |
| UniProt ID | P16066 |
| OMIM ID | 108960 |
| HGNC ID | 7939 |
| Aliases | ANPa, ANPRA, GUCY2A, GUCYA2, NPRA |
Description
NPR1 encodes the natriuretic peptide receptor A (NPRA), a transmembrane guanylyl cyclase that serves as the receptor for atrial natriuretic peptide (ANP) and B-type natriuretic peptide (BNP). Binding of these ligands activates intracellular guanylyl cyclase activity, increasing cGMP levels, which mediates vasodilation, natriuresis, and inhibition of renin and aldosterone secretion. NPR1 is critical for blood pressure regulation and fluid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Loss-of-function variants reduce cGMP signaling, impairing vasodilation and sodium excretion, leading to elevated blood pressure. | ClinVar, OMIM |
| Heart Failure | Reduced NPR1 expression or activity diminishes the compensatory natriuretic peptide response, contributing to fluid overload and cardiac remodeling. | NCBI Gene, OMIM |
| Atrial Fibrillation | Polymorphisms in NPR1 have been associated with increased risk of atrial fibrillation, possibly through altered atrial natriuretic peptide signaling. | ClinVar, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 0.2 | Not detected |
| Adrenal gland | 1.5 | Low |
| Heart | 12.3 | Medium |
| Kidney | 18.7 | Medium |
| Lung | 6.4 | Low |
| Vascular smooth muscle | 8.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HUVEC | 22.1 | High expression |
| A549 | 3.4 | Low expression |
| MCF7 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1024G>A (p.Val342Met) | Missense | 0.001% | Reduced guanylyl cyclase activity; associated with hypertension |
| c.2077C>T (p.Arg693*) | Nonsense | <0.001% | Loss of function; truncation of cytoplasmic domain |
| c.2456A>G (p.Asn819Ser) | Missense | 0.002% | Impaired ligand binding; linked to heart failure |
Mutation functional classification
Loss of Function (LOF)
Most NPR1 mutations are loss-of-function, reducing cGMP production and impairing natriuretic peptide signaling, leading to hypertension and fluid retention.
Gain of Function (GOF)
Rare gain-of-function mutations have been reported, enhancing guanylyl cyclase activity and potentially causing hypotension.
Dominant Negative (DN)
Some missense mutations in the extracellular domain may exert dominant-negative effects by forming inactive dimers with wild-type receptors.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004383 (guanylate cyclase activity) | • GO:0005524 (ATP binding) |
| • GO:0005886 (plasma membrane) | • GO:0007165 (signal transduction) |
| • GO:0006182 (cGMP biosynthetic process) | • GO:0019899 (enzyme binding) |
Pathways
• Natriuretic peptide signaling pathway (Reactome: R-HSA-418594)
• cGMP-PKG signaling pathway (KEGG: hsa04022)
• Renin-angiotensin system (KEGG: hsa04614)
Protein Summary
Natriuretic peptide receptor 1 (NPRA) is a 1061-amino acid transmembrane protein with an extracellular ligand-binding domain, a single transmembrane helix, and an intracellular guanylyl cyclase domain. It forms homodimers and, upon ANP or BNP binding, catalyzes the conversion of GTP to cGMP. NPRA is expressed primarily in kidney, heart, adrenal gland, and vascular smooth muscle, where it regulates blood pressure, fluid balance, and cardiac function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NPR1 Knockout HEK293 Cell Line | EDJ-KQ1777 | Human | 4881 | Details Get a Quote |
| NPR1 Knockout HeLa Cell Line | EDC90145 | Human | 4881 | Details Get a Quote |
| NPR1 Knockout A-549 Cell Line | EDJ-KQ21644 | Human | 4881 | Details Get a Quote |
| NPR1 Knockout HCT 116 Cell Line | EDJ-KQ70976 | Human | 4881 | Details Get a Quote |
| Npr1 Knockout HL-1 Cell Line | EDC07579 | Mouse | 18160 | Details Get a Quote |
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