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FMO3 flavin containing dimethylaniline monoxygenase 3 [ Homo sapiens (human) ]

Gene ID: 2328, updated on 3-Apr-2024

Summary

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Official Symbol
FMO3provided by HGNC
Official Full Name
flavin containing dimethylaniline monoxygenase 3provided by HGNC
Primary source
HGNC:HGNC:3771
See related
Ensembl:ENSG00000007933 MIM:136132; AllianceGenome:HGNC:3771
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TMAU; FMOII; dJ127D3.1
Summary
Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]
Expression
Biased expression in liver (RPKM 241.9) and adrenal (RPKM 8.6) See more
Orthologs
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Genomic context

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Location:
1q24.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (171090905..171117819)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (170447248..170474197)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (171060046..171086959)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene maestro heat like repeat family member 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:171001885-171002420 Neighboring gene alkylated DNA repair protein alkB homolog 8-like Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:171076844-171078043 Neighboring gene microRNA 1295a Neighboring gene microRNA 1295b Neighboring gene uncharacterized LOC105371611 Neighboring gene flavin containing dimethylaniline monoxygenase 6, pseudogene Neighboring gene uncharacterized LOC124900413 Neighboring gene flavin containing dimethylaniline monoxygenase 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Estimation of FMO3 Ontogeny by Mechanistic Population Pharmacokinetic Modelling of Risdiplam and Its Impact on Drug-Drug Interactions in Children. Cleary Y, et al. Clin Pharmacokinet, 2023 Jun. PMID 37148485, Free PMC Article
  2. A family study of compound variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found by urinary phenotyping for trimethylaminuria. Shimizu M, et al. Drug Metab Pharmacokinet, 2023 Jun. PMID 36889044
  3. Possible correlation between high circulatory levels of trimethylamine-N-oxide and 2177G>C polymorphisms of hepatic flavin containing monooxygenase 3 in Kurdish Population with non-alcoholic fatty liver disease. Moradzad M, et al. Mol Biol Rep, 2022 Jul. PMID 35348964
  4. Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes. Alibrandi S, et al. Molecules, 2021 Nov 22. PMID 34834137, Free PMC Article
  5. N- and S-oxygenation activity of truncated human flavin-containing monooxygenase 3 and its common polymorphic variants. Bortolussi S, et al. Arch Biochem Biophys, 2021 Jan 15. PMID 33152328

See all (131) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Estimation of FMO3 Ontogeny by Mechanistic Population Pharmacokinetic Modelling of Risdiplam and Its Impact on Drug-Drug Interactions in Children.
    Title: Estimation of FMO3 Ontogeny by Mechanistic Population Pharmacokinetic Modelling of Risdiplam and Its Impact on Drug-Drug Interactions in Children.
  2. A family study of compound variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found by urinary phenotyping for trimethylaminuria.
    Title: A family study of compound variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found by urinary phenotyping for trimethylaminuria.
  3. Possible correlation between high circulatory levels of trimethylamine-N-oxide and 2177G>C polymorphisms of hepatic flavin containing monooxygenase 3 in Kurdish Population with non-alcoholic fatty liver disease.
    Title: Possible correlation between high circulatory levels of trimethylamine-N-oxide and 2177G>C polymorphisms of hepatic flavin containing monooxygenase 3 in Kurdish Population with non-alcoholic fatty liver disease.
  4. Human flavin-containing monooxygenase 1 and its long-sought hydroperoxyflavin intermediate.
    Title: Human flavin-containing monooxygenase 1 and its long-sought hydroperoxyflavin intermediate.
  5. Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes.
    Title: Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes.
  6. Different Effects of Polymorphic Flavin-Containing Monooxygenase 3 and Cytochrome P450 2A6 Activities on an Index of Arteriosclerosis as a Lifestyle-Related Disease in a General Population in Japan.
    Title: Different Effects of Polymorphic Flavin-Containing Monooxygenase 3 and Cytochrome P450 2A6 Activities on an Index of Arteriosclerosis as a Lifestyle-Related Disease in a General Population in Japan.
  7. Predictive Value of FMO3 Variants on Plasma Disposition and Adverse Reactions of Oral Voriconazole in Febrile Neutropenia.
    Title: Predictive Value of FMO3 Variants on Plasma Disposition and Adverse Reactions of Oral Voriconazole in Febrile Neutropenia.
  8. N- and S-oxygenation activity of truncated human flavin-containing monooxygenase 3 and its common polymorphic variants.
    Title: N- and S-oxygenation activity of truncated human flavin-containing monooxygenase 3 and its common polymorphic variants.
  9. Novel variants in outer protein surface of flavin-containing monooxygenase 3 found in an Argentinian case with impaired capacity for trimethylamine N-oxygenation.
    Title: Novel variants in outer protein surface of flavin-containing monooxygenase 3 found in an Argentinian case with impaired capacity for trimethylamine N-oxygenation.
  10. Uncoupled human flavin-containing monooxygenase 3 releases superoxide radical in addition to hydrogen peroxide.
    Title: Uncoupled human flavin-containing monooxygenase 3 releases superoxide radical in addition to hydrogen peroxide.
Submit: New GeneRIF Correction See all GeneRIFs (81)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Trimethylaminuria
MedGen: C0342739 OMIM: 602079 GeneReviews: Primary Trimethylaminuria
Compare labs

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates flavin containing monooxygenase 3 (FMO3) in HEK 293T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC34400

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N,N-dimethylaniline monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables NADP binding IEA
Inferred from Electronic Annotation
more info
  
enables albendazole monooxygenase activity IEA
Inferred from Electronic Annotation
more info
  
enables flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables hypotaurine dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables trimethylamine monooxygenase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in taurine biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
flavin-containing monooxygenase 3
Names
FMO form 2
dimethylaniline monooxygenase [N-oxide-forming] 3
dimethylaniline oxidase 3
flavin containing monooxygenase 3
hepatic flavin-containing monooxygenase-3
trimethylamine monooxygenase
NP_001002294.1
NP_001306102.1
NP_001306103.1
NP_008825.4
XP_047272163.1
XP_054191465.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012690.2 RefSeqGene

    Range
    5002..31916
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001002294.3 → NP_001002294.1  flavin-containing monooxygenase 3 isoform a

    See identical proteins and their annotated locations for NP_001002294.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AK223166, AK313197, BC032016
    Consensus CDS
    CCDS1292.1
    UniProtKB/Swiss-Prot
    B2R816, P31513, Q14854, Q8N5N5
    UniProtKB/TrEMBL
    A0A024R8Z4, A0A0S2Z3T8, Q53FW5
    Related
    ENSP00000356729.4, ENST00000367755.9
    Conserved Domains (2) summary
    pfam00743
    Location:2 → 532
    FMO-like; Flavin-binding monooxygenase-like
    pfam13450
    Location:7 → 41
    NAD_binding_8; NAD(P)-binding Rossmann-like domain

  2. NM_001319173.2 → NP_001306102.1  flavin-containing monooxygenase 3 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' splice junction and contains an alternate exon compared to variant 2. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AK223166, AK298406, AK313197, BC032016
    UniProtKB/TrEMBL
    B7Z543
    Conserved Domains (1) summary
    pfam00743
    Location:25 → 512
    FMO-like; Flavin-binding monooxygenase-like

  3. NM_001319174.2 → NP_001306103.1  flavin-containing monooxygenase 3 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 2. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AK223166, AK296105, AK313197, AL021026, BC032016
    UniProtKB/TrEMBL
    B7Z3M2
    Conserved Domains (2) summary
    pfam00743
    Location:2 → 469
    FMO-like; Flavin-binding monooxygenase-like
    pfam13450
    Location:7 → 41
    NAD_binding_8; NAD(P)-binding Rossmann-like domain

  4. NM_006894.6 → NP_008825.4  flavin-containing monooxygenase 3 isoform a

    See identical proteins and their annotated locations for NP_008825.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AK223166, AK313197, BC032016, BM453951
    Consensus CDS
    CCDS1292.1
    UniProtKB/Swiss-Prot
    B2R816, P31513, Q14854, Q8N5N5
    UniProtKB/TrEMBL
    A0A024R8Z4, A0A0S2Z3T8, Q53FW5
    Conserved Domains (2) summary
    pfam00743
    Location:2 → 532
    FMO-like; Flavin-binding monooxygenase-like
    pfam13450
    Location:7 → 41
    NAD_binding_8; NAD(P)-binding Rossmann-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    171090905..171117819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416207.1 → XP_047272163.1  flavin-containing monooxygenase 3 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    170447248..170474197
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335490.1 → XP_054191465.1  flavin-containing monooxygenase 3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P31513.5 GenPept UniProtKB/Swiss-Prot:P31513

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