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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NOXO1
NADPH oxidase organizer 1
Chromosome 16 · 16p13.3
NCBI Gene: 124056Ensembl: ENSG00000196408.13HGNC: HGNC:19404UniProt: A8K832
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingenzyme bindingextracellular matrix disassemblyNADPH oxidase complexcongenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromemitochondrial diseasegenetic disorderdiabetes mellitus
✦AI Summary

NOXO1 (NADPH oxidase organizer 1) is a cytoplasmic scaffold protein that constitutively potentiates superoxide generation by NOX1 and NOX3 complexes 1. Beyond its canonical ROS-generating function, NOXO1 exhibits multiple NOX1-independent roles: it regulates EGFR signaling through interaction with Erbin, delaying EGF-induced kinase activation 2, and promotes endosomal/lysosomal biogenesis via TFEB activation in an Erbin-dependent manner 3. Subcellular localization to the cytoskeleton, regulated by D-box mutations, modulates NOX1 activity 4. CYLD-mediated ubiquitination destabilizes NOXO1 protein, suppressing excessive ROS generation and tumor progression 5. In pathophysiology, NOXO1 deletion prevents diabetes-induced vascular dysfunction without compensating for p47phox loss, indicating distinct regulatory roles 6. NOXO1 upregulation drives smoke-induced emphysema and pulmonary hypertension through peroxynitrite formation 7, making it a potential COPD therapeutic target. Additionally, NOXO1 DNA methylation participates in uterine fibroid pathogenesis via immune cell infiltration regulation 8. These findings establish NOXO1 as a multifunctional adaptor protein with both ROS-dependent and ROS-independent roles in vascular, pulmonary, and reproductive pathology.

Sources cited
1
NOXO1 regulates EGFR signaling through interaction with Erbin, independent of NOX1 complex activity
PMID: 39426288
2
D-box mutations in NOXO1 increase ROS production through altered cytoskeletal localization rather than proteasomal degradation
PMID: 36902094
3
CYLD promotes ubiquitination and destabilization of NOXO1, suppressing ROS generation and tumor progression
PMID: 34742871
4
NOXO1 and p47phox mediate diabetes-induced vascular dysfunction with distinct, non-redundant mechanisms
PMID: 29195137
5
NOXO1 is the superoxide source driving smoke-induced emphysema and pulmonary hypertension in COPD
PMID: 32694733
6
NOXO1 promotes endosomal/lysosomal biogenesis via Erbin-dependent TFEB activation independent of ROS production
PMID: 41406574
7
NOXO1 DNA methylation participates in uterine fibroid pathogenesis through immune cell infiltration
PMID: 38015525
8
PKC-mediated phosphorylation of NOXO1 at Thr341 regulates NOX1-catalyzed superoxide production
PMID: 23957209
Disease Associationsⓘ20
congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromeOpen Targets
0.47Moderate
mitochondrial diseaseOpen Targets
0.33Weak
genetic disorderOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.05Suggestive
atherosclerosisOpen Targets
0.04Suggestive
Primary dystonia, DYT13 typeOpen Targets
0.04Suggestive
chorea, childhood-onset, with psychomotor retardationOpen Targets
0.04Suggestive
stomach neoplasmOpen Targets
0.04Suggestive
liver diseaseOpen Targets
0.03Suggestive
intellectual disability, autosomal recessive 58Open Targets
0.03Suggestive
guanidinoacetate methyltransferase deficiencyOpen Targets
0.03Suggestive
benign paroxysmal torticollis of infancyOpen Targets
0.03Suggestive
gastritisOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
emphysemaOpen Targets
0.02Suggestive
endothelial dysfunctionOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
colitisOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RFKProtein interaction100%CYBAProtein interaction100%CYBBProtein interaction100%NCF2Protein interaction100%NOX1Protein interaction100%DUOX2Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
5%
Ovary
3%
Heart
0%
Bone Marrow
0%
Lung
0%
Gene Interaction Network
Click a node to explore
NOXO1RFKCYBACYBBNCF2NOX1DUOX2
PROTEIN STRUCTURE
Preparing viewer…
PDB2L73 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.29 [1.00–1.69]
RankingsWhere NOXO1 stands among ~20K protein-coding genes
  • #10,365of 20,598
    Most Researched39
  • #16,043of 17,882
    Most Constrained (LOEUF)1.69
Genes detectedNOXO1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
NoxO1 regulates EGFR signaling by its interaction with Erbin.
PMID: 39426288
Redox Biol · 2024
1.00
2
Overexpression of a Novel Noxo1 Mutant Increases Ros Production and Noxo1 Relocalisation.
PMID: 36902094
Int J Mol Sci · 2023
0.90
3
CYLD destabilizes NoxO1 protein by promoting ubiquitination and regulates prostate cancer progression.
PMID: 34742871
Cancer Lett · 2022
0.80
4
The NADPH organizers NoxO1 and p47phox are both mediators of diabetes-induced vascular dysfunction in mice.
PMID: 29195137
Redox Biol · 2018
0.70
5
NADPH oxidase subunit NOXO1 is a target for emphysema treatment in COPD.
PMID: 32694733
Nat Metab · 2020
0.60