FMO1: Flavin Containing Dimethylaniline Monoxygenase 1
A key enzyme in xenobiotic metabolism and drug detoxification
Gene Information Card
| Symbol | FMO1 |
|---|---|
| Full Name | Flavin Containing Dimethylaniline Monoxygenase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.3 |
| NCBI Gene ID | 2326 ncbi.nlm.nih.gov/gene/2326 |
| Ensembl ID | ENSG00000010932 |
| UniProt ID | Q01740 |
| OMIM ID | 136130 |
| HGNC ID | 3776 |
| Aliases | FMO1, FMO 1, dimethylaniline monooxygenase [N-oxide-forming] 1 |
Description
FMO1 encodes a member of the flavin-containing monooxygenase (FMO) family, which catalyzes the oxygenation of nucleophilic nitrogen, sulfur, phosphorus, and selenium atoms in a wide variety of xenobiotics, including drugs, pesticides, and dietary compounds. FMO1 is predominantly expressed in fetal liver and adult kidney, and plays a critical role in the detoxification of foreign chemicals. The enzyme uses NADPH and FAD as cofactors and is involved in the metabolism of drugs such as itopride, sulindac sulfide, and benzydamine.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Trimethylaminuria (TMAU) | FMO1 dysfunction may contribute to impaired trimethylamine oxidation, though FMO3 is the primary gene implicated. | PMID: 10677296 |
| Drug-induced liver injury | Altered FMO1 activity can affect the metabolism of hepatotoxic drugs, potentially increasing susceptibility. | PMID: 19536777 |
| Hypertension | Polymorphisms in FMO1 have been associated with altered metabolism of endogenous amines and blood pressure regulation. | PMID: 21533021 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Liver (fetal) | 8.2 | Medium |
| Adrenal gland | 4.1 | Low |
| Small intestine | 3.0 | Low |
| Lung | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression in recombinant systems |
| HepG2 | 2.1 | Low endogenous expression |
| Caco-2 | 1.8 | Low expression |
| A549 | 0.5 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.943G>A (p.Gly315Ser) | Missense | 0.01% | Reduced catalytic activity in vitro |
| c.1285C>T (p.Arg429Cys) | Missense | 0.005% | Decreased enzyme stability |
| c.1A>G (p.Met1Val) | Start loss | <0.001% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Gly315Ser and p.Arg429Cys reduce or abolish FMO1 enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FMO1.
Dominant Negative (DN)
No dominant-negative mutations have been described for FMO1.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Drug metabolism - other enzymes (KEGG: hsa00983)
• Metabolism of xenobiotics by cytochrome P450 (KEGG: hsa00980)
• Chemical carcinogenesis (KEGG: hsa05204)
Protein Summary
FMO1 is a 532-amino acid microsomal flavoprotein that catalyzes the NADPH- and oxygen-dependent oxidation of soft nucleophilic heteroatoms in xenobiotics. The enzyme contains a conserved FAD- and NADPH-binding domain and is anchored to the endoplasmic reticulum membrane via an N-terminal transmembrane helix. FMO1 exhibits broad substrate specificity and is important for the detoxification of drugs and environmental chemicals. Its expression is developmentally regulated, with high levels in fetal liver and adult kidney, and it is not inducible by typical xenobiotic inducers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FMO1 Knockout HEK293 Cell Line | EDJ-KQ4614 | Human | 2326 | Details Get a Quote |
| FMO1 Knockout HeLa Cell Line | EDJ-KQ53253 | Human | 2326 | Details Get a Quote |
| FMO1 Knockout A-549 Cell Line | EDJ-KQ61735 | Human | 2326 | Details Get a Quote |
| FMO1 Knockout HCT 116 Cell Line | EDJ-KQ70222 | Human | 2326 | Details Get a Quote |
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