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

    Gene ID: 2328, updated on 30-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
    mouse all
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    Genomic context

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    See FMO3 in Genome Data Viewer
    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. Rare but impaired flavin-containing monooxygenase 3 (FMO3) variants reported in a recently updated Japanese mega-databank of genome resources.
      Title: Rare but impaired flavin-containing monooxygenase 3 (FMO3) variants reported in a recently updated Japanese mega-databank of genome resources.
    2. 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.
    3. 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.
    4. 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.
    5. Human flavin-containing monooxygenase 1 and its long-sought hydroperoxyflavin intermediate.
      Title: Human flavin-containing monooxygenase 1 and its long-sought hydroperoxyflavin intermediate.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (82)

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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