NOS1: Nitric Oxide Synthase 1 (Neuronal)
Key regulator of nitric oxide signaling in the nervous, cardiovascular, and immune systems
Gene Information Card
| Symbol | NOS1 |
|---|---|
| Full Name | Nitric Oxide Synthase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.22 |
| NCBI Gene ID | 4843 ncbi.nlm.nih.gov/gene/4843 |
| Ensembl ID | ENSG00000089250 |
| UniProt ID | P29475 |
| OMIM ID | 163731 |
| HGNC ID | 7872 |
| Aliases | nNOS, NOS-I, bNOS, NOS1a, NOS1b, NOS1c |
Description
NOS1 encodes neuronal nitric oxide synthase (nNOS), a calcium/calmodulin-dependent enzyme that catalyzes the production of nitric oxide (NO) from L-arginine. NO acts as a neurotransmitter, vasodilator, and immune modulator. NOS1 is predominantly expressed in neurons, skeletal muscle, and epithelial cells, and plays critical roles in synaptic plasticity, neuroprotection, and regulation of blood flow.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | NOS1 polymorphisms may alter NO production, contributing to oxidative stress and neuroinflammation | ClinVar, PMID: 20628086 |
| Parkinson disease | Reduced nNOS activity in substantia nigra linked to dopaminergic neuron loss | ClinVar, PMID: 21514298 |
| Schizophrenia | NOS1 variants associated with altered prefrontal NO signaling and cognitive deficits | ClinVar, PMID: 23042115 |
| Hypertension | NOS1 polymorphisms affect endothelial NO production and vascular tone | ClinVar, PMID: 19040306 |
| Pyloric stenosis (infantile hypertrophic) | NOS1 mutations impair NO-dependent relaxation of pyloric sphincter | OMIM #163731, PMID: 10441570 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Skeletal muscle | 8.3 | Medium |
| Heart | 5.1 | Medium |
| Lung | 2.4 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High nNOS expression |
| U-87 MG (glioblastoma) | 6.7 | Moderate expression |
| HUVEC (endothelial) | 1.3 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.601C>T (p.Arg201*) | Nonsense | <0.01% | Loss of function; associated with pyloric stenosis |
| c.2767G>A (p.Gly923Arg) | Missense | <0.01% | Reduced enzyme activity; reported in schizophrenia |
| c.1969C>T (p.Arg657Trp) | Missense | <0.01% | Altered NO production; linked to hypertension |
| c.84C>T (p.Ser28=) | Synonymous | 0.5% | No functional effect; common polymorphism |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg201*) truncate the protein, abolishing NO synthesis. Missense variants in the oxygenase domain (e.g., p.Gly923Arg) reduce catalytic activity.
Gain of Function (GOF)
Not well documented; some promoter polymorphisms may increase NOS1 expression, but no clear gain-of-function mutations are reported.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for NOS1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nitric oxide signaling pathway (Reactome: R-HSA-202131)
• Arginine and proline metabolism (KEGG: hsa00330)
• cGMP-PKG signaling pathway (KEGG: hsa04022)
Protein Summary
Neuronal nitric oxide synthase (nNOS) is a 160 kDa protein composed of an N-terminal PDZ domain, a central oxygenase domain containing heme and tetrahydrobiopterin binding sites, and a C-terminal reductase domain with FAD, FMN, and NADPH binding sites. The PDZ domain targets nNOS to synaptic membranes via interactions with PSD-95. nNOS produces NO in response to calcium influx, which then activates soluble guanylyl cyclase in target cells, increasing cGMP levels. nNOS is subject to alternative splicing, generating isoforms with distinct tissue distributions and regulatory properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOS1 Knockout HEK293 Cell Line | EDJ-KQ844 | Human | 4842 | Details Get a Quote |
| ANOS1 Knockout HEK293 Cell Line | EDJ-KQ5028 | Human | 3730 | Details Get a Quote |
| NOS1AP Knockout HEK293 Cell Line | EDJ-KQ6717 | Human | 9722 | Details Get a Quote |
| NANOS1 Knockout HEK293 Cell Line | EDJ-KQ14369 | Human | 340719 | Details Get a Quote |
| ANOS1 Knockout HeLa Cell Line | EDJ-KQ27941 | Human | 3730 | Details Get a Quote |
| NOS1AP Knockout HCT 116 Cell Line | EDJ-KQ31093 | Human | 9722 | Details Get a Quote |
| NANOS1 Knockout A-549 Cell Line | EDJ-KQ44508 | Human | 340719 | Details Get a Quote |
| NANOS1 Knockout HCT 116 Cell Line | EDJ-KQ44509 | Human | 340719 | Details Get a Quote |
| NANOS1 Knockout HeLa Cell Line | EDJ-KQ44510 | Human | 340719 | Details Get a Quote |
| NOS1 Knockout HeLa Cell Line | EDJ-KQ54004 | Human | 4842 | Details Get a Quote |
| NOS1AP Knockout HeLa Cell Line | EDJ-KQ55237 | Human | 9722 | Details Get a Quote |
| ANOS1 Knockout A-549 Cell Line | EDJ-KQ62169 | Human | 3730 | Details Get a Quote |
| NOS1 Knockout A-549 Cell Line | EDJ-KQ62497 | Human | 4842 | Details Get a Quote |
| NOS1AP Knockout A-549 Cell Line | EDJ-KQ63718 | Human | 9722 | Details Get a Quote |
| ANOS1 Knockout HCT 116 Cell Line | EDJ-KQ70655 | Human | 3730 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
