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

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

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001002294.3NP_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:2532
      FMO-like; Flavin-binding monooxygenase-like
      pfam13450
      Location:741
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
    2. NM_001319173.2NP_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:25512
      FMO-like; Flavin-binding monooxygenase-like
    3. NM_001319174.2NP_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:2469
      FMO-like; Flavin-binding monooxygenase-like
      pfam13450
      Location:741
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
    4. NM_006894.6NP_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:2532
      FMO-like; Flavin-binding monooxygenase-like
      pfam13450
      Location:741
      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_047416207.1XP_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_054335490.1XP_054191465.1  flavin-containing monooxygenase 3 isoform X1