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    FMO3 flavin containing monooxygenase 3 [ Homo sapiens (human) ]

    Gene ID: 2328, updated on 12-Mar-2017
    Official Symbol
    FMO3provided by HGNC
    Official Full Name
    flavin containing monooxygenase 3provided by HGNC
    Primary source
    HGNC:HGNC:3771
    See related
    Ensembl:ENSG00000007933 MIM:136132; Vega:OTTHUMG00000035505
    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]
    Orthologs
    Location:
    1q24.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (171090873..171117819)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (171060018..171086961)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene maestro heat like repeat family member 9 Neighboring gene alkylated DNA repair protein alkB homolog 8-like Neighboring gene uncharacterized LOC105371611 Neighboring gene microRNA 1295a Neighboring gene microRNA 1295b Neighboring gene flavin containing monooxygenase 6 pseudogene Neighboring gene flavin containing monooxygenase 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

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

    NHGRI GWAS Catalog

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

    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

    Markers

    Homology

    Clone Names

    • MGC34400

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    N,N-dimethylaniline monooxygenase activity TAS
    Traceable Author Statement
    more info
     
    NADP binding IEA
    Inferred from Electronic Annotation
    more info
     
    flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    trimethylamine monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    oxidation-reduction process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle TAS
    Traceable Author Statement
    more info
    PubMed 
    organelle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    dimethylaniline monooxygenase [N-oxide-forming] 3
    Names
    FMO form 2
    dimethylaniline oxidase 3
    hepatic flavin-containing monooxygenase-3
    trimethylamine monooxygenase
    NP_001002294.1
    NP_001306102.1
    NP_001306103.1
    NP_008825.4

    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_012690.1 RefSeqGene

      Range
      5001..31942
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001002294.2NP_001002294.1  dimethylaniline monooxygenase [N-oxide-forming] 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, BM453951
      Consensus CDS
      CCDS1292.1
      UniProtKB/Swiss-Prot
      P31513
      UniProtKB/TrEMBL
      A0A024R8Z4, Q53FW5
      Related
      ENSP00000356729, OTTHUMP00000033540, ENST00000367755, OTTHUMT00000086219
      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_001319173.1NP_001306102.1  dimethylaniline monooxygenase [N-oxide-forming] 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, BM453951
      UniProtKB/Swiss-Prot
      P31513
      UniProtKB/TrEMBL
      B7Z543, Q53FW5
      Conserved Domains (1) summary
      pfam00743
      Location:25512
      FMO-like; Flavin-binding monooxygenase-like
    3. NM_001319174.1NP_001306103.1  dimethylaniline monooxygenase [N-oxide-forming] 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, BM453951
      UniProtKB/Swiss-Prot
      P31513
      UniProtKB/TrEMBL
      B7Z3M2, Q53FW5
      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_006894.5NP_008825.4  dimethylaniline monooxygenase [N-oxide-forming] 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
      P31513
      UniProtKB/TrEMBL
      A0A024R8Z4, 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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      171090873..171117819
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509345.2XP_011507647.1  dimethylaniline monooxygenase [N-oxide-forming] 3 isoform X1

      See identical proteins and their annotated locations for XP_011507647.1

      Conserved Domains (1) summary
      pfam00743
      Location:25512
      FMO-like; Flavin-binding monooxygenase-like

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      172482298..172509155
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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