FMO1
gene geneOn this page
Summary
FMO1 (flavin containing dimethylaniline monoxygenase 1, HGNC:3769) is a protein-coding gene on chromosome 1q24.3, encoding Flavin-containing monooxygenase 1 (Q01740). Broad spectrum monooxygenase that catalyzes the oxygenation of a wide variety of nitrogen- and sulfur-containing compounds including xenobiotics.
Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Several transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 2326 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 79 total
- Druggable target: yes
- MANE Select transcript:
NM_001282693
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3769 |
| Approved symbol | FMO1 |
| Name | flavin containing dimethylaniline monoxygenase 1 |
| Location | 1q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000010932 |
| Ensembl biotype | protein_coding |
| OMIM | 136130 |
| Entrez | 2326 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 4 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000354841, ENST00000367750, ENST00000402921, ENST00000459868, ENST00000469112, ENST00000469711, ENST00000472893, ENST00000617670
RefSeq mRNA: 4 — MANE Select: NM_001282693
NM_001282692, NM_001282693, NM_001282694, NM_002021
CCDS: CCDS1294, CCDS60351
Canonical transcript exons
ENST00000617670 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000789743 | 171281978 | 171282333 |
| ENSE00000789744 | 171283144 | 171283216 |
| ENSE00001620176 | 171248494 | 171248623 |
| ENSE00003490304 | 171267543 | 171267731 |
| ENSE00003502192 | 171275346 | 171275508 |
| ENSE00003541211 | 171280786 | 171280985 |
| ENSE00003666757 | 171278729 | 171278871 |
| ENSE00003802426 | 171258082 | 171258219 |
| ENSE00003807972 | 171285202 | 171285961 |
Expression profiles
Bgee: expression breadth ubiquitous, 193 present calls, max score 95.69.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5597 / max 118.8361, expressed in 141 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 6598 | 0.2327 | 29 |
| 6602 | 0.1731 | 74 |
| 6601 | 0.0893 | 52 |
| 6599 | 0.0645 | 17 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nephron tubule | UBERON:0001231 | 95.69 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.03 | gold quality |
| renal glomerulus | UBERON:0000074 | 93.57 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 92.70 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 92.59 | gold quality |
| adult organism | UBERON:0007023 | 92.07 | gold quality |
| kidney | UBERON:0002113 | 90.08 | gold quality |
| ileal mucosa | UBERON:0000331 | 89.87 | gold quality |
| parietal pleura | UBERON:0002400 | 89.57 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 88.96 | gold quality |
| cortex of kidney | UBERON:0001225 | 85.04 | gold quality |
| pleura | UBERON:0000977 | 82.72 | gold quality |
| renal medulla | UBERON:0000362 | 81.28 | gold quality |
| metanephros | UBERON:0000081 | 81.25 | gold quality |
| oral cavity | UBERON:0000167 | 80.74 | gold quality |
| upper leg skin | UBERON:0004262 | 80.08 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 79.99 | gold quality |
| skin of hip | UBERON:0001554 | 79.97 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 77.80 | gold quality |
| right adrenal gland | UBERON:0001233 | 77.72 | gold quality |
| mammary gland | UBERON:0001911 | 77.42 | gold quality |
| gall bladder | UBERON:0002110 | 77.23 | gold quality |
| mammary duct | UBERON:0001765 | 77.17 | gold quality |
| left uterine tube | UBERON:0001303 | 76.92 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 76.47 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 76.08 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 75.99 | gold quality |
| left adrenal gland | UBERON:0001234 | 75.92 | gold quality |
| right ovary | UBERON:0002118 | 75.75 | gold quality |
| skin of abdomen | UBERON:0001416 | 75.55 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 35.14 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GLI1, HNF4A
miRNA regulators (miRDB)
30 targeting FMO1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-3125 | 99.14 | 68.49 | 2269 |
| HSA-MIR-3916 | 98.99 | 68.04 | 2155 |
| HSA-MIR-6871-5P | 98.90 | 66.67 | 671 |
| HSA-MIR-3611 | 98.76 | 68.76 | 1290 |
| HSA-MIR-1537-5P | 98.70 | 68.33 | 999 |
| HSA-MIR-548AO-5P | 98.55 | 69.57 | 1362 |
| HSA-MIR-548AX | 98.55 | 69.58 | 1362 |
| HSA-MIR-193B-5P | 97.91 | 65.88 | 837 |
| HSA-MIR-3936 | 97.64 | 64.47 | 732 |
| HSA-MIR-4676-5P | 97.54 | 65.29 | 715 |
| HSA-MIR-575 | 97.54 | 65.18 | 718 |
| HSA-MIR-101-5P | 96.84 | 65.66 | 649 |
| HSA-MIR-3059-3P | 96.71 | 67.08 | 606 |
| HSA-MIR-1251-5P | 95.78 | 64.10 | 374 |
Literature-anchored findings (GeneRIF, showing 15)
- FMO1 expression is restricted to the fetus; FMO1 suppression occurred within 3 d postpartum in a process tightly coupled to birth, but not gestational age. (PMID:11809920)
- data from transient expression assays in HepG2 cells suggested this SNP could account for a 2- to 3-fold loss of FMO1 promoter activity. (PMID:12829732)
- “…in fetal liver, where FMO1 predominates attaining expression levels of (about) 32% of expressed CYP3A4.” p. 574 “…recent examples indicate that FMOs play a prominent role in the metabolism …of important drugs.” p. 575 (PMID:15203093)
- FMO1 was found to be down-regulated in human adult brain tissue. (PMID:16183778)
- Early studies described in this review document that FMO1 is the most abundant FMO enzyme in the human fetal liver, whereas FMO3 is essentially absent. (PMID:16863467)
- Specific allelic variants of the FMO1 gene might be associated to susceptibility to develop ALS. (PMID:17127561)
- The resulting data showed that N,N-dimethylamphetamine N-oxidation is mainly mediated by FMO1. (PMID:19552509)
- The results of this study suggested that the alteration of FMO gene expression is a consequence of the pathological environment linked to oxidative stress related to mutated SOD1. (PMID:21082301)
- polymorphisms in FMO1 are significant risk factors in the development of nicotine dependence and that the mechanism may involve variation in nicotine pharmacology. (PMID:21540762)
- data support the role of FMO3 in the N-oxidation of OLA and implicate for the first time the contribution of FMO1 and its functional *6 variant in OLA disposition (PMID:23147717)
- Report developmental regulation of hepatic FMO1 expression. (PMID:26839369)
- Study tested the genetic effects of three FMOs genes (FMO1, FMO3, and FMO6P) on nicotine dependence by performing targeted sequencing on 2,852 nicotine-dependent and nondependent smokers; identified significant association signals for gene FMO1 and FMO6P (PMID:28413702)
- Differential gene expression by SFRP2(+), FMO1(+), and COL11A1(+) fibroblasts suggests roles in matrix deposition, inflammatory cell retention, and connective tissue cell differentiation, respectively. (PMID:29080679)
- Decreases in N’-oxidation activity (V (max)/K (m)) were observed for the FMO1(I303V), FMO3(N61S), FMO3(D132H), FMO3(V257M), and FMO3(E308G) variants in vitro when compared with their respective wild-type isoforms. (PMID:30381441)
- Human flavin-containing monooxygenase 1 and its long-sought hydroperoxyflavin intermediate. (PMID:34509493)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Fmo1 | ENSMUSG00000040181 |
| rattus_norvegicus | Fmo1 | ENSRNOG00000034191 |
| caenorhabditis_elegans | WBGENE00001476 | |
| caenorhabditis_elegans | WBGENE00001478 | |
| caenorhabditis_elegans | WBGENE00001480 | |
| caenorhabditis_elegans | C01H6.4 | WBGENE00007254 |
| caenorhabditis_elegans | C46H11.2 | WBGENE00016728 |
Paralogs (5): FMO3 (ENSG00000007933), FMO4 (ENSG00000076258), FMO2 (ENSG00000094963), FOXRED2 (ENSG00000100350), FMO5 (ENSG00000131781)
Protein
Protein identifiers
Flavin-containing monooxygenase 1 — Q01740 (reviewed: Q01740)
Alternative names: Dimethylaniline monooxygenase [N-oxide-forming] 1, Dimethylaniline oxidase 1, Fetal hepatic flavin-containing monooxygenase 1, Trimethylamine monooxygenase
All UniProt accessions (2): Q01740, A0A1W2PNR8
UniProt curated annotations — full annotation on UniProt →
Function. Broad spectrum monooxygenase that catalyzes the oxygenation of a wide variety of nitrogen- and sulfur-containing compounds including xenobiotics. Catalyzes the S-oxygenation of hypotaurine to produce taurine, an organic osmolyte involved in cell volume regulation as well as a variety of cytoprotective and developmental processes. In vitro, catalyzes the N-oxygenation of trimethylamine (TMA) to produce trimethylamine N-oxide (TMAO) and could therefore participate to the detoxification of this compound that is generated by the action of gut microbiota from dietary precursors such as choline, choline containing compounds, betaine or L-carnitine.
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Expressed mainly in fetal and adult liver.
Similarity. Belongs to the FMO family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q01740-1 | 1 | yes |
| Q01740-2 | 2 |
RefSeq proteins (4): NP_001269621, NP_001269622, NP_001269623, NP_002012 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000960 | Flavin_mOase | Family |
| IPR002253 | Flavin_mOase_1 | Family |
| IPR020946 | Flavin_mOase-like | Family |
| IPR036188 | FAD/NAD-bd_sf | Homologous_superfamily |
| IPR050346 | FMO-like | Family |
Pfam: PF00743
Enzyme classification (BRENDA):
- EC 1.14.13.8 — flavin-containing monooxygenase (BRENDA: 30 organisms, 458 substrates, 77 inhibitors, 260 Km, 123 kcat entries)
Substrate kinetics (BRENDA)
72 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| METHIMAZOLE | 0.007–0.5758 | 18 |
| TAMOXIFEN | 0.0013–0.121 | 15 |
| INDOLE | 0.005–0.9 | 13 |
| BENZYDAMINE | 0.0186–0.0659 | 11 |
| ETHIONAMIDE | 0.104–2.131 | 10 |
| METHYL P-TOLYL SULFIDE | 0.0048–10.2 | 10 |
| FENTHION | 0.145–0.351 | 9 |
| MERCAPTOIMIDAZOLE | 0.018–0.0527 | 9 |
| NADPH | 0.0031–0.132 | 9 |
| TRIMETHYLAMINE | 0.0015–0.58 | 9 |
| SULINDAC SULFIDE | 0.0101–0.0163 | 8 |
| CHLORPROMAZINE | 0.022–0.08 | 7 |
| IMIPRAMINE | 0.0047–0.02 | 7 |
| L-METHIONINE | 2.8–48 | 6 |
| 10-[(N,N-DIMETHYLAMINOOCTYL)-2-(TRIFLUOROMETHYL) | 15–38 | 5 |
Catalyzed reactions (Rhea), 4 shown:
- N,N-dimethylaniline + NADPH + O2 + H(+) = N,N-dimethylaniline N-oxide + NADP(+) + H2O (RHEA:24468)
- trimethylamine + NADPH + O2 = trimethylamine N-oxide + NADP(+) + H2O (RHEA:31979)
- hypotaurine + NADPH + O2 + H(+) = taurine + NADP(+) + H2O (RHEA:69819)
- hypotaurine + NADH + O2 + H(+) = taurine + NAD(+) + H2O (RHEA:74111)
UniProt features (22 total): sequence variant 9, binding site 6, topological domain 2, initiator methionine 1, chain 1, modified residue 1, splice variant 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q01740-F1 | 94.46 | 0.86 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (6): 195–198; 9–13; 32; 40–41; 60–61; 61–62
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1614558 | Degradation of cysteine and homocysteine |
| R-HSA-217271 | FMO oxidises nucleophiles |
MSigDB gene sets: 166 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GOBP_LIPID_MODIFICATION, REACTOME_BIOLOGICAL_OXIDATIONS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOBP_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, WEIGEL_OXIDATIVE_STRESS_BY_TBH_AND_H2O2, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, GATA3_01, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS
GO Biological Process (8): sulfur amino acid catabolic process (GO:0000098), obsolete organic acid metabolic process (GO:0006082), xenobiotic metabolic process (GO:0006805), toxin metabolic process (GO:0009404), response to lipopolysaccharide (GO:0032496), taurine biosynthetic process (GO:0042412), negative regulation of fatty acid oxidation (GO:0046322), energy homeostasis (GO:0097009)
GO Molecular Function (8): monooxygenase activity (GO:0004497), N,N-dimethylaniline monooxygenase activity (GO:0004499), trimethylamine monooxygenase activity (GO:0034899), hypotaurine monooxygenase activity (GO:0047822), flavin adenine dinucleotide binding (GO:0050660), NADP binding (GO:0050661), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (4): endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Sulfur amino acid metabolism | 1 |
| Phase I - Functionalization of compounds | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen | 3 |
| sulfur amino acid metabolic process | 1 |
| sulfur compound catabolic process | 1 |
| carboxylic acid catabolic process | 1 |
| metabolic process | 1 |
| cellular response to xenobiotic stimulus | 1 |
| secondary metabolic process | 1 |
| response to molecule of bacterial origin | 1 |
| response to lipid | 1 |
| response to oxygen-containing compound | 1 |
| taurine metabolic process | 1 |
| alkanesulfonate biosynthetic process | 1 |
| fatty acid oxidation | 1 |
| negative regulation of fatty acid metabolic process | 1 |
| regulation of fatty acid oxidation | 1 |
| multicellular organismal-level homeostasis | 1 |
| oxidoreductase activity | 1 |
| nucleotide binding | 1 |
| anion binding | 1 |
| adenyl nucleotide binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1790 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FMO1 | B4GALT4 | O60513 | 458 |
| FMO1 | CDC40 | O60508 | 456 |
| FMO1 | LSP1 | P33241 | 433 |
| FMO1 | HMG20B | Q9P0W2 | 430 |
| FMO1 | DVL1 | O14640 | 430 |
| FMO1 | ABCD2 | Q9UBJ2 | 427 |
| FMO1 | CAPN2 | P17655 | 404 |
| FMO1 | LARP4 | Q71RC2 | 398 |
| FMO1 | ITSN2 | Q9NZM3 | 395 |
| FMO1 | GRIA1 | P42261 | 386 |
| FMO1 | UGT1A6 | P19224 | 382 |
| FMO1 | FMR1 | Q06787 | 382 |
| FMO1 | HNRNPA1 | P09651 | 377 |
| FMO1 | LPIN1 | Q14693 | 376 |
| FMO1 | CMTM6 | Q9NX76 | 365 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FMO1 | CREB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LEPROTL1 | FMO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FMO1 | GRINA | psi-mi:“MI:0915”(physical association) | 0.560 |
| FMO1 | REEP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FMO1 | SLC10A6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FMO1 | MFSD14B | psi-mi:“MI:0915”(physical association) | 0.560 |
| FMO1 | TLN1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FMO1 | LDHC | psi-mi:“MI:0914”(association) | 0.350 |
| LEPROTL1 | FMO1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GRINA | FMO1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FMO1 | REEP4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FMO1 | MFSD14B | psi-mi:“MI:0915”(physical association) | 0.000 |
| FMO1 | SLC10A6 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (13): CREB3 (Two-hybrid), LEPROTL1 (Two-hybrid), SLC10A6 (Two-hybrid), HIATL1 (Two-hybrid), REEP4 (Two-hybrid), GRINA (Two-hybrid), GPRC5C (Affinity Capture-MS), FMO4 (Affinity Capture-MS), LDHC (Affinity Capture-MS), FMO1 (Negative Genetic), FMO1 (Protein-peptide), HSP90AB1 (Cross-Linking-MS (XL-MS)), FMO1 (Proximity Label-MS)
ESM2 similar proteins: A1E9I4, A1E9R7, A1EA01, A2T321, A6H5F6, A7M8Z3, A8W3H9, A8Y9G3, A9QC56, B0YPM1, B1VKH6, F4JIU4, O14977, O35484, O60774, P06354, P06360, P0C480, P0C481, P0C482, P16037, P17933, P41605, P51249, Q01740, Q06FX2, Q1ACN3, Q1XDN8, Q32RQ0, Q32RY1, Q569R5, Q5R7K3, Q5SCY1, Q63764, Q6ENI1, Q6ENX0, Q6KGX3, Q6L3A4, Q6YXJ9, Q85AW7
Diamond homologs: A0A0B5RNJ4, A3SLM3, A3VVZ4, B6BQB2, B8EIZ7, P16549, P49109, P49326, Q01740, Q04799, Q1V023, Q5LT63, Q8MP06, O23024, O60774, P17635, P31512, P36365, P36366, P36367, P50285, P97872, Q28505, Q5REK0, Q6IRI9, Q8HZ69, Q8HZ70, Q8K2I3, Q8K4C0, Q93Y23, Q99518, Q9C8U0, Q9FWW6, Q9SH25, Q9SS04, Q9SXD5, A0A0P0V5U9, A0A172J1R7, A3U3H1, B8ANW0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
79 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 63 |
| Likely benign | 6 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1593 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:171258220:G:GG | donor_gain | 1.0000 |
| 1:171275341:TTCA:T | acceptor_loss | 1.0000 |
| 1:171275342:TCA:T | acceptor_loss | 1.0000 |
| 1:171275344:A:AG | acceptor_gain | 1.0000 |
| 1:171275344:A:C | acceptor_loss | 1.0000 |
| 1:171275345:G:GG | acceptor_gain | 1.0000 |
| 1:171275345:GA:G | acceptor_gain | 1.0000 |
| 1:171275345:GACC:G | acceptor_gain | 1.0000 |
| 1:171275345:GACCA:G | acceptor_gain | 1.0000 |
| 1:171275505:CCAG:C | donor_loss | 1.0000 |
| 1:171278718:A:AG | acceptor_gain | 1.0000 |
| 1:171278719:T:G | acceptor_gain | 1.0000 |
| 1:171278724:TATAG:T | acceptor_gain | 1.0000 |
| 1:171278725:A:AG | acceptor_gain | 1.0000 |
| 1:171278725:ATAG:A | acceptor_gain | 1.0000 |
| 1:171278725:ATAGG:A | acceptor_gain | 1.0000 |
| 1:171278726:T:G | acceptor_gain | 1.0000 |
| 1:171278726:TA:T | acceptor_loss | 1.0000 |
| 1:171278726:TAG:T | acceptor_gain | 1.0000 |
| 1:171278727:A:AG | acceptor_gain | 1.0000 |
| 1:171278727:A:C | acceptor_loss | 1.0000 |
| 1:171278727:AG:A | acceptor_gain | 1.0000 |
| 1:171278727:AGGTA:A | acceptor_gain | 1.0000 |
| 1:171278728:G:GC | acceptor_gain | 1.0000 |
| 1:171278728:GG:G | acceptor_gain | 1.0000 |
| 1:171278728:GGT:G | acceptor_gain | 1.0000 |
| 1:171278728:GGTA:G | acceptor_gain | 1.0000 |
| 1:171278728:GGTAT:G | acceptor_gain | 1.0000 |
| 1:171278868:AAAG:A | donor_loss | 1.0000 |
| 1:171278870:AG:A | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000024256 (1:171263734 G>C,T), RS1000268684 (1:171247516 G>A), RS1000421411 (1:171277849 A>T), RS1000451140 (1:171261600 T>G), RS1000473138 (1:171264569 C>T), RS1000506690 (1:171249009 T>C), RS1000529561 (1:171284322 A>C), RS1000554353 (1:171262233 G>A), RS1000581841 (1:171283968 T>C), RS1000665091 (1:171254297 G>A), RS1000684160 (1:171251480 T>C), RS1000753161 (1:171277478 A>G), RS1000790987 (1:171256752 A>C), RS1000882863 (1:171276650 G>C), RS1001159467 (1:171283489 G>A)
Disease associations
OMIM: gene MIM:136130 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001104_7 | Sudden cardiac arrest | 2.000000e-06 |
| GCST004125_11 | Type 2 diabetes (age of onset) | 4.000000e-06 |
| GCST009391_1545 | Metabolite levels | 2.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004278 | sudden cardiac arrest |
| EFO:0010511 | niacinamide measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL3430872 (SINGLE PROTEIN), CHEMBL3542432 (PROTEIN FAMILY)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
4 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs10912675 | Other | 3 | nicotine | |
| rs12720462 | Other | 3 | olanzapine | |
| rs7877 | Other | 3 | olanzapine | |
| rs7877 | Other | 3 | nicotine |
PharmGKB variants
4 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs7877 | FMO1 | 3 | 1.75 | 2 | nicotine;olanzapine |
| rs10912675 | FMO1 | 3 | 1.50 | 1 | nicotine |
| rs12720462 | FMO1 | 3 | 1.75 | 1 | olanzapine |
| rs13376631 | FMO1 | 0.00 | 0 |
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases expression | 5 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Benzo(a)pyrene | decreases expression, increases expression, increases methylation | 3 |
| Benzydamine | decreases reaction, increases chemical synthesis, increases oxidation | 2 |
| Chenodeoxycholic Acid | affects cotreatment, decreases expression | 2 |
| Deoxycholic Acid | affects cotreatment, decreases expression | 2 |
| Glycochenodeoxycholic Acid | decreases expression, affects cotreatment | 2 |
| Glycocholic Acid | affects cotreatment, decreases expression | 2 |
| Glycodeoxycholic Acid | affects cotreatment, decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Triclosan | affects cotreatment, decreases expression, increases expression | 2 |
| Cyclosporine | affects cotreatment, decreases expression | 2 |
| bisphenol F | decreases expression, affects cotreatment | 1 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| 6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt | affects cotreatment, decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| potassium perchlorate | decreases expression | 1 |
| pyrithione zinc | increases expression | 1 |
| N-methyl-4-aminophenol | affects cotreatment, increases chemical synthesis, increases oxidation | 1 |
| bromoacetate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| 4-aminophenol | increases metabolic processing, affects cotreatment, increases chemical synthesis | 1 |
| maleic acid | increases expression | 1 |
| 4-fluoroaniline | affects cotreatment, increases chemical synthesis, increases metabolic processing | 1 |
| nefazodone | affects cotreatment, decreases expression | 1 |
| usnic acid | affects cotreatment, decreases expression | 1 |
| clozapine N-oxide | decreases reaction, increases chemical synthesis | 1 |
| 4-fluoro-N-methylaniline | affects cotreatment, increases chemical synthesis, increases metabolic processing, increases oxidation | 1 |
ChEMBL screening assays
4 unique, capped per target: 4 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3531401 | ADMET | Drug metabolism assessed as human recombinant FMO1-mediated ER-879123 formation at 10 uM after 60 mins by LC-MS/MS method in presence of NADPH | A Baeyer-Villiger oxidation specifically catalyzed by human flavin-containing monooxygenase 5. — Drug Metab Dispos |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.