PRKG1: Protein Kinase cGMP-Dependent 1
A key regulator of smooth muscle contraction and vascular tone, implicated in genetic disorders and cancer.
Gene Information Card
| Symbol | PRKG1 |
|---|---|
| Full Name | Protein Kinase cGMP-Dependent 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q11.23-q21.1 |
| NCBI Gene ID | 5592 ncbi.nlm.nih.gov/gene/5592 |
| Ensembl ID | ENSG00000185532 |
| UniProt ID | Q13976 |
| OMIM ID | 176894 |
| HGNC ID | 9368 |
| Aliases | PKG1, cGK1, PRKG1B, PRKG1A |
Description
PRKG1 encodes cGMP-dependent protein kinase 1 (PKG1), a serine/threonine kinase that mediates nitric oxide/cGMP signaling. It plays a critical role in smooth muscle relaxation, platelet aggregation inhibition, and cardiac function. Alternative splicing produces isoforms PKG1α and PKG1β with distinct regulatory properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thoracic Aortic Aneurysm and Dissection (TAAD) | Gain-of-function mutations in PRKG1 lead to constitutive activation of PKG1, disrupting smooth muscle cell contractile function and promoting aortic wall weakening. | ClinVar, OMIM |
| Colorectal Cancer | Altered PRKG1 expression and promoter methylation are associated with tumor progression and metastasis. | COSMIC, NCBI |
| Pulmonary Hypertension | Reduced PRKG1 activity contributes to vascular remodeling and increased pulmonary vascular resistance. | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth Muscle | 45.2 | High |
| Heart | 22.8 | Medium |
| Brain | 8.5 | Low |
| Lung | 12.1 | Medium |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic Smooth Muscle Cells | 62.3 | Primary cells |
| HEK293 | 15.7 | Embryonic kidney |
| HUVEC | 28.9 | Endothelial |
| HeLa | 5.2 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.530G>A (p.Arg177Gln) | Missense | Rare | Gain-of-function; associated with TAAD |
| c.1186C>T (p.Arg396Trp) | Missense | <0.01% | Loss-of-function; reduced kinase activity |
| c.1762G>A (p.Val588Ile) | Missense | 0.02% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
p.Arg396Trp reduces cGMP-dependent kinase activity, impairing vasodilation.
Gain of Function (GOF)
p.Arg177Gln causes constitutive activation of PKG1, leading to aortic smooth muscle dysfunction.
Dominant Negative (DN)
Not reported for PRKG1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004672 (GO:0004672) | • GO:0005515 (GO:0005515) |
| • GO:0005524 (GO:0005524) | • GO:0006468 (GO:0006468) |
| • GO:0007165 (GO:0007165) | • GO:0019901 (GO:0019901) |
Pathways
• cGMP-PKG signaling pathway (KEGG: hsa04022)
• Nitric oxide signaling (Reactome: R-HSA-392154)
• Smooth muscle contraction (Reactome: R-HSA-445355)
Protein Summary
PRKG1 encodes PKG1, a homodimeric serine/threonine kinase activated by cGMP. It phosphorylates targets such as MYPT1, VASP, and IRAG, regulating smooth muscle relaxation, platelet function, and cardiac contractility. The protein contains an N-terminal leucine zipper, two cGMP-binding domains, and a C-terminal kinase domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKG1 Knockout HEK293 Cell Line | EDJ-KQ1841 | Human | 5592 | Details Get a Quote |
| PRKG1 Knockout HeLa Cell Line | EDJ-KQ54214 | Human | 5592 | Details Get a Quote |
| PRKG1 Knockout A-549 Cell Line | EDJ-KQ62707 | Human | 5592 | Details Get a Quote |
| PRKG1 Knockout HCT 116 Cell Line | EDJ-KQ71179 | Human | 5592 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
