NOXO1
NADPH Oxidase Organizer 1
Gene Information Card
| Symbol | NOXO1 |
|---|---|
| Full Name | NADPH Oxidase Organizer 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 124056 ncbi.nlm.nih.gov/gene/124056 |
| Ensembl ID | ENSG00000196411 |
| UniProt ID | Q8NFA2 |
| OMIM ID | 610473 |
| HGNC ID | 27062 |
| Aliases | Nox organizer 1, SH3PXD5, p41nox |
Description
NOXO1 (NADPH Oxidase Organizer 1) is a protein-coding gene that encodes a cytosolic organizer subunit of the NADPH oxidase complex. It is primarily involved in the production of reactive oxygen species (ROS) by regulating the assembly and activation of the NOX1 and NOX3 NADPH oxidases. NOXO1 contains SH3 and PX domains that mediate interactions with other oxidase subunits and membrane phospholipids.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory bowel disease | Dysregulated ROS production due to altered NOXO1 expression may contribute to intestinal inflammation. | PMID: 19043405 |
| Hypertension | NOXO1-mediated ROS generation in vascular smooth muscle cells is implicated in blood pressure regulation. | PMID: 21788451 |
| Cancer (colorectal) | Overexpression of NOXO1 in colorectal tumors correlates with increased ROS and tumor progression. | COSMIC: NOXO1 mutations in colorectal cancer |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Small intestine | 10.2 | Medium |
| Stomach | 8.7 | Medium |
| Lung | 5.3 | Low |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon adenocarcinoma) | 15.8 | High expression |
| HT-29 (colorectal adenocarcinoma) | 13.4 | High expression |
| A549 (lung carcinoma) | 6.2 | Moderate expression |
| HEK 293 (embryonic kidney) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown functional effect |
| c.682G>A (p.Gly228Arg) | Missense | <0.01% | Potential loss of SH3 domain function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in SH3 domains may impair protein-protein interactions required for NADPH oxidase assembly.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NADPH oxidase pathway (Reactome: R-HSA-5668599)
• ROS production in phagocytes (KEGG: hsa04666)
Protein Summary
NOXO1 is a 41 kDa cytosolic protein containing an N-terminal PX domain and two SH3 domains. It functions as an organizer subunit for NOX1 and NOX3 NADPH oxidases, facilitating the translocation of the oxidase complex to the membrane and subsequent ROS production. NOXO1 is highly expressed in epithelial tissues, particularly the gastrointestinal tract, and plays a role in host defense, cell signaling, and redox homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOXO1 Knockout HEK293 Cell Line | EDJ-KQ8437 | Human | 124056 | Details Get a Quote |
| NOXO1 Knockout HCT 116 Cell Line | EDJ-KQ34554 | Human | 124056 | Details Get a Quote |
| NOXO1 Knockout HeLa Cell Line | EDJ-KQ58127 | Human | 124056 | Details Get a Quote |
| NOXO1 Knockout A-549 Cell Line | EDJ-KQ66613 | Human | 124056 | Details Get a Quote |
