GUCY1B1: Guanylate Cyclase 1 Soluble Subunit Beta 1
A key enzyme in the nitric oxide (NO) signaling pathway, involved in vasodilation and platelet aggregation.
Gene Information Card
| Symbol | GUCY1B1 |
|---|---|
| Full Name | Guanylate Cyclase 1 Soluble Subunit Beta 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q32.1 |
| NCBI Gene ID | 2983 ncbi.nlm.nih.gov/gene/2983 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q02153 |
| OMIM ID | 139397 |
| HGNC ID | 4684 |
| Aliases | GC-S-beta-1, GUC1B1, GUCSB3 |
Description
GUCY1B1 encodes the beta-1 subunit of soluble guanylyl cyclase (sGC), a heterodimeric enzyme that catalyzes the conversion of GTP to cyclic GMP (cGMP) in response to nitric oxide (NO). This signaling pathway regulates vascular smooth muscle relaxation, platelet aggregation, and neurotransmission. Mutations in GUCY1B1 are associated with familial thoracic aortic aneurysm and Moyamoya disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial thoracic aortic aneurysm | Loss-of-function variants impair NO-induced vasodilation, leading to aortic wall weakness | ClinVar, OMIM |
| Moyamoya disease 5 | Homozygous or compound heterozygous mutations reduce sGC activity, affecting cerebrovascular remodeling | OMIM #614042 |
| Hypertension | Reduced cGMP production contributes to impaired vasodilation and elevated blood pressure | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Brain | 7.3 | Medium |
| Liver | 4.1 | Low |
| Kidney | 6.2 | Medium |
| Skeletal Muscle | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.2 | High expression |
| A549 (lung) | 8.9 | Moderate |
| HEK293 (embryonic kidney) | 6.1 | Moderate |
| K562 (leukemia) | 2.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1471C>T (p.Arg491*) | Nonsense | <0.01% | Loss of function; truncation of beta subunit |
| c.1187G>A (p.Arg396His) | Missense | <0.01% | Reduced sGC activity; associated with Moyamoya disease |
| c.1915C>T (p.Arg639Cys) | Missense | <0.01% | Impaired heme binding; linked to thoracic aortic aneurysm |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that reduce or abolish sGC catalytic activity, leading to impaired NO-cGMP signaling.
Gain of Function (GOF)
Not reported in GUCY1B1.
Dominant Negative (DN)
Some missense variants may interfere with heterodimer formation, exerting a dominant-negative effect on sGC function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nitric oxide stimulates guanylate cyclase (Reactome: R-HSA-418594)
• cGMP signaling (Reactome: R-HSA-418555)
• Vascular smooth muscle contraction (KEGG: hsa04270)
Protein Summary
The beta-1 subunit of soluble guanylyl cyclase (sGC) is a 619-amino-acid protein that forms a heterodimer with the alpha-1 or alpha-2 subunit. It contains a heme-binding domain that senses NO, leading to a conformational change that activates the catalytic domain. The protein is predominantly cytosolic and expressed in vascular smooth muscle, platelets, and brain. Defects in GUCY1B1 disrupt NO-dependent cGMP production, contributing to vascular and neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GUCY1B1 Knockout HEK293 Cell Line | EDJ-KQ1855 | Human | 2983 | Details Get a Quote |
| GUCY1B1 Knockout HeLa Cell Line | EDJ-KQ53461 | Human | 2983 | Details Get a Quote |
| GUCY1B1 Knockout A-549 Cell Line | EDJ-KQ61933 | Human | 2983 | Details Get a Quote |
| GUCY1B1 Knockout HCT 116 Cell Line | EDJ-KQ70414 | Human | 2983 | Details Get a Quote |
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