NOX1: NADPH Oxidase 1 – Key Regulator of Reactive Oxygen Species
Comprehensive gene card for NOX1, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | NOX1 |
|---|---|
| Full Name | NADPH oxidase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 27035 ncbi.nlm.nih.gov/gene/27035 |
| Ensembl ID | ENSG00000107968 |
| UniProt ID | Q9Y5S8 |
| OMIM ID | 300225 |
| HGNC ID | 7889 |
| Aliases | NOX1A, MOX1, GP91-PHOX HOMOLOG, NOH-1 |
Description
NOX1 encodes a member of the NADPH oxidase family of enzymes that catalyze the production of superoxide anion from molecular oxygen using NADPH as an electron donor. The protein is a transmembrane flavocytochrome that functions as a catalytic subunit of the NADPH oxidase complex. NOX1 is involved in cell signaling, host defense, and regulation of cell growth and differentiation. It is expressed in colon, vascular smooth muscle, and other tissues, and its dysregulation is implicated in hypertension, atherosclerosis, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | NOX1-derived superoxide contributes to vascular oxidative stress and endothelial dysfunction, promoting vasoconstriction and elevated blood pressure. | PMID: 19047598; NCBI GeneRIF |
| Atherosclerosis | Increased NOX1 expression in vascular smooth muscle cells leads to reactive oxygen species (ROS) production, promoting plaque formation and inflammation. | PMID: 21576642; OMIM 300225 |
| Colorectal Cancer | NOX1 overexpression in colonic epithelium generates ROS that drive proliferation, angiogenesis, and genomic instability. | PMID: 23251476; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 45.2 | High |
| Small intestine | 38.1 | High |
| Stomach | 22.5 | Medium |
| Spleen | 12.3 | Low |
| Lung | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HT-29 (colon adenocarcinoma) | 62.4 | High expression; consistent with colonic origin |
| A549 (lung carcinoma) | 15.1 | Moderate expression |
| HUVEC (endothelial) | 5.3 | Low expression; inducible by stimuli |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.115C>T (p.Arg39Cys) | Missense | 0.01% (gnomAD) | Reduced superoxide production in vitro; potential loss-of-function |
| c.214G>A (p.Gly72Ser) | Missense | 0.005% (gnomAD) | Unknown functional effect; rare variant |
| c.352_353insA (p.Ile118Asnfs*5) | Frameshift | Not reported in population databases | Predicted loss-of-function; truncation of catalytic domain |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the catalytic heme-binding or NADPH-binding domains (e.g., frameshift, nonsense) reduce superoxide generation, impairing ROS-dependent signaling.
Gain of Function (GOF)
Missense mutations that enhance enzyme activity or stability (e.g., in regulatory regions) may increase ROS production, contributing to oxidative stress and disease.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported for NOX1; however, mutations affecting dimerization with p22phox could theoretically exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NADPH oxidase complex (Reactome: R-HSA-5668599)
• ROS and RNS production in phagocytes (KEGG: hsa04666)
• VEGF signaling pathway (KEGG: hsa04370)
• AGE-RAGE signaling pathway in diabetic complications (KEGG: hsa04933)
Protein Summary
NOX1 is a 564-amino-acid transmembrane protein (UniProt Q9Y5S8) that functions as the catalytic core of a NADPH oxidase complex. It contains six transmembrane helices, a cytoplasmic FAD-binding domain, and a NADPH-binding domain. The protein requires association with p22phox (CYBA) and regulatory subunits (NOXO1, NOXA1, Rac1) for full activity. NOX1 generates superoxide anion, which is rapidly dismutated to hydrogen peroxide, acting as a second messenger in cell proliferation, migration, and angiogenesis. Aberrant NOX1 activity is linked to vascular diseases and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOX1 Knockout HEK293 Cell Line | EDJ-KQ8652 | Human | 27035 | Details Get a Quote |
| NOX1 Knockout HeLa Cell Line | EDJ-KQ55989 | Human | 27035 | Details Get a Quote |
| NOX1 Knockout A-549 Cell Line | EDJ-KQ64473 | Human | 27035 | Details Get a Quote |
| NOX1 Knockout HCT 116 Cell Line | EDJ-KQ72931 | Human | 27035 | Details Get a Quote |
