ENOX1 (Ecto-NOX Disulfide-Thiol Exchanger 1): A Cell Surface Protein with Potential Roles in Cancer and Cellular Regulation
Comprehensive genomic, expression, and mutation analysis of ENOX1, a member of the ENOX family, highlighting its structural features, tissue distribution, and emerging links to disease.
Gene Information Card
| Symbol | ENOX1 |
|---|---|
| Full Name | Ecto-NOX disulfide-thiol exchanger 1 |
| Gene Type | protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 55068 ncbi.nlm.nih.gov/gene/55068 |
| Ensembl ID | ENSG00000120658 |
| UniProt ID | Q8TC92 |
| OMIM ID | 610996 |
| HGNC ID | 25436 |
| Aliases | C13orf12, FLJ10637, MGC138215 |
Description
ENOX1 encodes a member of the ENOX family of ecto-nicotinamide adenine dinucleotide (NADH) oxidases. These proteins are located on the cell surface and catalyze the oxidation of NADH, coupled to the reduction of molecular oxygen to water. ENOX1 is characterized by two conserved cysteine residues that undergo redox cycling, and it exhibits disulfide-thiol exchange activity. The protein is involved in cellular growth regulation, potentially acting as a growth factor receptor or a component of the plasma membrane electron transport chain. ENOX1 has been implicated in various cellular processes, including cell proliferation, apoptosis, and response to oxidative stress. Its expression is often altered in cancer, suggesting a role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and potential role in cell proliferation and apoptosis; specific mutations may affect its enzymatic activity. | COSMIC database lists somatic mutations in multiple cancer types; literature suggests involvement in tumor progression. |
| Alzheimer's disease | Potential involvement in oxidative stress and cellular redox regulation; ENOX proteins have been studied in neurodegenerative contexts. | Limited evidence; some studies suggest altered ENOX activity in Alzheimer's brain tissue. |
| Aging and cellular senescence | ENOX proteins are associated with age-related changes in cellular metabolism and redox state. | Research on ENOX family indicates roles in aging processes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.7 | Low |
| Brain | 6.3 | Low |
| Lung | 5.1 | Low |
| Testis | 15.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 18.3 | High expression compared to normal liver |
| A549 (lung cancer) | 7.2 | Moderate expression |
| MCF7 (breast cancer) | 4.5 | Low expression |
| K562 (leukemia) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Cys) | Missense | 0.01% (COSMIC) | May affect disulfide-thiol exchange activity; potential impact on protein function. |
| c.245A>G (p.Asn82Ser) | Missense | 0.005% (COSMIC) | Located in a conserved region; possible alteration in substrate binding. |
| c.378_379insA (frameshift) | Insertion | 0.002% (COSMIC) | Predicted to cause loss of function due to premature stop codon. |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein are likely loss-of-function, reducing ENOX1 activity.
Gain of Function (GOF)
Some missense mutations may enhance enzymatic activity or alter substrate specificity, potentially promoting cell proliferation.
Dominant Negative (DN)
Certain mutations could interfere with dimerization or interaction with partners, exerting a dominant-negative effect.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity | • NADH dehydrogenase (ubiquinone) activity |
| • protein disulfide oxidoreductase activity | • plasma membrane |
| • extracellular exosome | • cell surface |
| • response to oxidative stress | • cell proliferation |
| • apoptotic process |
Pathways
• Plasma membrane electron transport
• NADH oxidation
• Redox signaling
• Cell growth regulation
Protein Summary
ENOX1 is a cell surface glycoprotein with NADH oxidase and disulfide-thiol exchange activities. It contains a single transmembrane domain and a large extracellular domain with conserved cysteine residues. The protein undergoes redox cycling, alternating between reduced and oxidized states, which is essential for its enzymatic function. ENOX1 is thought to participate in the regulation of cell growth by modulating the cellular redox state and possibly acting as a growth factor receptor. Its expression is tissue-specific and often dysregulated in cancer, making it a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENOX1 Knockout HEK293 Cell Line | EDJ-KQ13289 | Human | 55068 | Details Get a Quote |
| ENOX1 Knockout HCT 116 Cell Line | EDJ-KQ42726 | Human | 55068 | Details Get a Quote |
| ENOX1 Knockout HeLa Cell Line | EDJ-KQ42727 | Human | 55068 | Details Get a Quote |
| ENOX1 Knockout A-549 Cell Line | EDJ-KQ65023 | Human | 55068 | Details Get a Quote |
