NOXO1

Chr 16

NADPH oxidase organizer 1

Also known as: P41NOX, P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28

NCBI Gene: 124056ENSG00000196408UniProt: Q8NFA2

This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]

154
ClinVar variants
43
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— NOXO1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
43 Pathogenic / Likely Pathogenic· 101 VUS of 154 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.62LOEUF
pLI 0.000
Z-score -0.21
OE 1.06 (0.71–1.62)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.81Z-score
OE missense 1.15 (1.04–1.28)
252 obs / 218.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.06 (0.71–1.62)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.15 (1.04–1.28)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.17
0≤1.21.6
LoF obs/exp: 15 / 14.1Missense obs/exp: 252 / 218.3Syn Z: -1.31

ClinVar Variant Classifications

154 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic42
Likely Pathogenic1
VUS101
Likely Benign10
42
Pathogenic
1
Likely Pathogenic
101
VUS
10
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
42
0
42
Likely Pathogenic
0
0
1
0
1
VUS
1
84
16
0
101
Likely Benign
1
8
0
1
10
Benign
0
0
0
0
0
Total292591154

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NOXO1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Overexpression of a Novel Noxo1 Mutant Increases Ros Production and Noxo1 Relocalisation.
Benssouina FZ et al.·Int J Mol Sci
2023
The NADPH organizers NoxO1 and p47phox are both mediators of diabetes-induced vascular dysfunction in mice.
Rezende F et al.·Redox Biol
2018
Subcellular localization and function of alternatively spliced Noxo1 isoforms.
Ueyama T et al.·Free Radic Biol Med
2007
NOX1 NADPH oxidase regulation by the NOXA1 SH3 domain.
Valente AJ et al.·Free Radic Biol Med
2007
Integrative bioinformatics analysis reveals that microplastics promote chronic rhinosinusitis with nasal polyps through NOXO1-mediated oxidative stress and myoepithelial cell reprogramming.
Gao Y et al.·Comput Biol Chem
2026
Inactivation of NADPH oxidase organizer 1 results in severe imbalance.
Kiss PJ et al.·Curr Biol
2006
Escherichia coli LF82 differentially regulates ROS production and mucin expression in intestinal epithelial T84 cells: implication of NOX1.
Elatrech I et al.·Inflamm Bowel Dis
2015
c-Src-mediated phosphorylation of NoxA1 and Tks4 induces the reactive oxygen species (ROS)-dependent formation of functional invadopodia in human colon cancer cells.
Gianni D et al.·Mol Biol Cell
2010Functional
Death receptors 4 and 5 activate Nox1 NADPH oxidase through riboflavin kinase to induce reactive oxygen species-mediated apoptotic cell death.
Park KJ et al.·J Biol Chem
2012
Binding of EBP50 to Nox organizing subunit p47phox is pivotal to cellular reactive species generation and altered vascular phenotype.
Al Ghouleh I et al.·Proc Natl Acad Sci U S A
2016
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools