NOXA1: NADPH Oxidase Activator 1
Key regulator of reactive oxygen species production in phagocytes and non-phagocytic cells
Gene Information Card
| Symbol | NOXA1 |
|---|---|
| Full Name | NADPH Oxidase Activator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 10811 ncbi.nlm.nih.gov/gene/10811 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | Q86UR1 |
| OMIM ID | 609022 |
| HGNC ID | 24471 |
| Aliases | p67phox-like factor, p67phox(L), NOXA1L, FLJ22471 |
Description
NOXA1 (NADPH Oxidase Activator 1) encodes a cytosolic protein that functions as an activator of NADPH oxidase, particularly the NOX1 isoform. It shares homology with p67phox (NCF2) and is essential for the production of superoxide anions in non-phagocytic cells. NOXA1 interacts with NOX1, NOXO1, and RAC1 to form a functional oxidase complex, playing a role in cell signaling, proliferation, and host defense.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic granulomatous disease (CGD)-like disorder | Defective NOXA1 impairs NOX1-dependent ROS production, leading to recurrent infections | ClinVar, OMIM |
| Hypertension | NOXA1-mediated ROS production in vascular smooth muscle contributes to oxidative stress and vasoconstriction | NCBI Gene, PubMed |
| Colorectal cancer | NOXA1 overexpression enhances NOX1 activity, promoting tumor growth and angiogenesis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | High |
| Small intestine | 8.3 | Medium |
| Stomach | 6.1 | Medium |
| Lung | 4.2 | Low |
| Heart | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon) | 15.2 | High expression |
| A549 (lung) | 5.6 | Moderate expression |
| HEK293 (embryonic kidney) | 3.1 | Low expression |
| THP-1 (monocyte) | 1.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.680C>T (p.Pro227Leu) | Missense | Rare | Reduced NOX1 activation; associated with CGD-like phenotype |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Impaired RAC1 binding; loss of function |
| c.1465C>T (p.Arg489Trp) | Missense | Rare | Decreased oxidase activity; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Pro227Leu and p.Gly375Arg impair NOXA1's ability to activate NOX1, reducing ROS production and predisposing to infections.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NOXA1.
Dominant Negative (DN)
No dominant-negative mutations have been described for NOXA1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NADPH oxidase complex (NOX1/NOXA1/NOXO1/RAC1)
• Reactive oxygen species (ROS) production
• VEGF signaling pathway (via ROS)
Protein Summary
NOXA1 is a 476-amino acid cytosolic protein containing SH3 domains and a PB1 domain. It acts as an activator of NOX1 by facilitating the assembly of the NADPH oxidase complex. NOXA1 binds to NOXO1 and RAC1, enabling electron transfer from NADPH to oxygen to produce superoxide. Its expression is highest in the gastrointestinal tract, and dysregulation is linked to inflammatory and neoplastic conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOXA1 Knockout HEK293 Cell Line | EDJ-KQ3264 | Human | 10811 | Details Get a Quote |
| NOXA1 Knockout HeLa Cell Line | EDJ-KQ55492 | Human | 10811 | Details Get a Quote |
| NOXA1 Knockout A-549 Cell Line | EDJ-KQ63982 | Human | 10811 | Details Get a Quote |
| NOXA1 Knockout HCT 116 Cell Line | EDJ-KQ72433 | Human | 10811 | Details Get a Quote |
