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    FMO5 flavin containing dimethylaniline monoxygenase 5 [ Homo sapiens (human) ]

    Gene ID: 2330, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FMO5provided by HGNC
    Official Full Name
    flavin containing dimethylaniline monoxygenase 5provided by HGNC
    Primary source
    HGNC:HGNC:3773
    See related
    Ensembl:ENSG00000131781 MIM:603957; AllianceGenome:HGNC:3773
    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
    hBVMO1
    Summary
    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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
    Expression
    Biased expression in liver (RPKM 65.3), small intestine (RPKM 17.2) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FMO5 in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (147184305..147227284, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (147582797..147624105)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (146655884..146696931, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:146633127-146634326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1277 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1278 Neighboring gene protein kinase AMP-activated non-catalytic subunit beta 2 Neighboring gene protein disulfide isomerase family A member 3 pseudogene 1 Neighboring gene chromodomain helicase DNA binding protein 1 like Neighboring gene chaperonin containing TCP1 subunit 8 pseudogene 1 Neighboring gene HNF4 motif-containing MPRA enhancer 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1279 Neighboring gene ribosomal protein L7a pseudogene 15 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:146764440-146765639 Neighboring gene prostaglandin reductase 1 pseudogene Neighboring gene MPRA-validated peak402 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:146807941-146808527 Neighboring gene long intergenic non-protein coding RNA 624 Neighboring gene olfactory receptor family 13 subfamily Z member 1 pseudogene

    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. Quantitation and kinetic properties of hepatic microsomal and recombinant flavin-containing monooxygenases 3 and 5 from humans. Overby LH, et al. Chem Biol Interact, 1997 Aug 29. PMID 9305407
    2. Oxidation of ranitidine by isozymes of flavin-containing monooxygenase and cytochrome P450. Chung WG, et al. Jpn J Pharmacol, 2000 Oct. PMID 11128045
    3. Human kidney flavin-containing monooxygenases and their potential roles in cysteine s-conjugate metabolism and nephrotoxicity. Krause RJ, et al. J Pharmacol Exp Ther, 2003 Jan. PMID 12490590
    4. Baeyer-Villiger Monooxygenase FMO5 as Entry Point in Drug Metabolism. Fiorentini F, et al. ACS Chem Biol, 2017 Sep 15. PMID 28783300
    5. Characterization of flavin-containing monooxygenase 5 (FMO5) cloned from human and guinea pig: evidence that the unique catalytic properties of FMO5 are not confined to the rabbit ortholog. Overby LH, et al. Arch Biochem Biophys, 1995 Feb 20. PMID 7872795

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Report relatively stable FMO5 expression throughout development.
      Title: Quantification of Flavin-containing Monooxygenases 1, 3, and 5 in Human Liver Microsomes by UPLC-MRM-Based Targeted Quantitative Proteomics and Its Application to the Study of Ontogeny.
    2. Nabumetone and pentoxifylline, two widely used pharmaceuticals, were thereby demonstrated to be efficiently oxidized in vitro by FMO5 to the corresponding acetate esters with high selectivity.
      Title: Baeyer-Villiger Monooxygenase FMO5 as Entry Point in Drug Metabolism.
    3. absence of the typical characteristic sequence motifs sets human FMO5 apart from all characterized Baeyer-Villiger mono-oxygenases so far. These findings open new perspectives in human oxidative metabolism
      Title: Biocatalytic Characterization of Human FMO5: Unearthing Baeyer-Villiger Reactions in Humans.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.
    6. fmo5 displayed a significant, dominant liver-specific mRNA profile.
      Title: Quantitative analysis of FMO gene mRNA levels in human tissues.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    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)

    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

    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 NADPH oxidase H202-forming activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables aldehyde oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hypotaurine monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in NADPH oxidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cholesterol metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in xenobiotic metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    flavin-containing monooxygenase 5
    Names
    FMO 5
    NADPH oxidase
    NAPDH oxidase
    baeyer-Villiger monooxygenase 1
    dimethylaniline monooxygenase [N-oxide-forming] 5
    dimethylaniline oxidase 5
    flavin containing monooxygenase 5
    hepatic flavin-containing monooxygenase 5
    NP_001138301.1
    NP_001138302.1
    NP_001452.2
    XP_005273003.1
    XP_005273004.1
    XP_005273005.1
    XP_006711307.1
    XP_011507652.1
    XP_011507653.1
    XP_016856290.1
    XP_016856291.1
    XP_047272206.1
    XP_047272230.1
    XP_047272234.1
    XP_047272241.1
    XP_047272248.1
    XP_054191475.1
    XP_054191476.1
    XP_054191477.1
    XP_054191478.1
    XP_054191479.1
    XP_054191480.1
    XP_054191481.1
    XP_054191482.1
    XP_054191483.1
    XP_054191484.1

    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.

    mRNA and Protein(s)

    1. NM_001144829.3 → NP_001138301.1  flavin-containing monooxygenase 5 isoform 2

      See identical proteins and their annotated locations for NP_001138301.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR and contains an alternate 3' terminal exon including coding region, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK225739
      Consensus CDS
      CCDS44209.1
      UniProtKB/Swiss-Prot
      P49326
      Related
      ENSP00000416011.2, ENST00000441068.6
      Conserved Domains (2) summary
      pfam00743
      Location:3 → 426
      FMO-like; Flavin-binding monooxygenase-like
      pfam13450
      Location:8 → 43
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    2. NM_001144830.3 → NP_001138302.1  flavin-containing monooxygenase 5 isoform 3

      See identical proteins and their annotated locations for NP_001138302.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, compared to variant 1. This results in a frameshift and shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      BC035687, DA354058
      Consensus CDS
      CCDS44210.1
      UniProtKB/TrEMBL
      E9PJF3
      Related
      ENSP00000358277.3, ENST00000369272.7
      Conserved Domains (1) summary
      cl26174
      Location:3 → 279
      K_oxygenase; L-lysine 6-monooxygenase (NADPH-requiring)

    3. NM_001461.4 → NP_001452.2  flavin-containing monooxygenase 5 isoform 1

      See identical proteins and their annotated locations for NP_001452.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK314647, BC035687
      Consensus CDS
      CCDS926.1
      UniProtKB/Swiss-Prot
      B2RBG1, C9JJD1, P49326, Q8IV22
      UniProtKB/TrEMBL
      Q53H53
      Related
      ENSP00000254090.4, ENST00000254090.9
      Conserved Domains (2) summary
      pfam00743
      Location:3 → 532
      FMO-like; Flavin-binding monooxygenase-like
      pfam13450
      Location:8 → 43
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      147184305..147227284 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272947.6 → XP_005273004.1  flavin-containing monooxygenase 5 isoform X1

      See identical proteins and their annotated locations for XP_005273004.1

      UniProtKB/Swiss-Prot
      B2RBG1, C9JJD1, P49326, Q8IV22
      UniProtKB/TrEMBL
      Q53H53
      Conserved Domains (2) summary
      pfam00743
      Location:3 → 532
      FMO-like; Flavin-binding monooxygenase-like
      pfam13450
      Location:8 → 43
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    2. XM_017000802.3 → XP_016856291.1  flavin-containing monooxygenase 5 isoform X2

      UniProtKB/TrEMBL
      Q53H53
      Conserved Domains (2) summary
      pfam00743
      Location:3 → 469
      FMO-like; Flavin-binding monooxygenase-like
      pfam13450
      Location:8 → 43
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    3. XM_005272948.6 → XP_005273005.1  flavin-containing monooxygenase 5 isoform X1

      See identical proteins and their annotated locations for XP_005273005.1

      UniProtKB/Swiss-Prot
      B2RBG1, C9JJD1, P49326, Q8IV22
      UniProtKB/TrEMBL
      Q53H53
      Conserved Domains (2) summary
      pfam00743
      Location:3 → 532
      FMO-like; Flavin-binding monooxygenase-like
      pfam13450
      Location:8 → 43
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    4. XM_047416250.1 → XP_047272206.1  flavin-containing monooxygenase 5 isoform X2

    5. XM_005272946.6 → XP_005273003.1  flavin-containing monooxygenase 5 isoform X1

      See identical proteins and their annotated locations for XP_005273003.1

      UniProtKB/Swiss-Prot
      B2RBG1, C9JJD1, P49326, Q8IV22
      UniProtKB/TrEMBL
      Q53H53
      Conserved Domains (2) summary
      pfam00743
      Location:3 → 532
      FMO-like; Flavin-binding monooxygenase-like
      pfam13450
      Location:8 → 43
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    6. XM_011509351.4 → XP_011507653.1  flavin-containing monooxygenase 5 isoform X2

      UniProtKB/TrEMBL
      Q53H53
      Conserved Domains (2) summary
      pfam00743
      Location:3 → 469
      FMO-like; Flavin-binding monooxygenase-like
      pfam13450
      Location:8 → 43
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    7. XM_017000801.3 → XP_016856290.1  flavin-containing monooxygenase 5 isoform X2

      UniProtKB/TrEMBL
      Q53H53
      Conserved Domains (2) summary
      pfam00743
      Location:3 → 469
      FMO-like; Flavin-binding monooxygenase-like
      pfam13450
      Location:8 → 43
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    8. XM_011509350.4 → XP_011507652.1  flavin-containing monooxygenase 5 isoform X1

      See identical proteins and their annotated locations for XP_011507652.1

      UniProtKB/Swiss-Prot
      B2RBG1, C9JJD1, P49326, Q8IV22
      UniProtKB/TrEMBL
      Q53H53
      Conserved Domains (2) summary
      pfam00743
      Location:3 → 532
      FMO-like; Flavin-binding monooxygenase-like
      pfam13450
      Location:8 → 43
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    9. XM_047416285.1 → XP_047272241.1  flavin-containing monooxygenase 5 isoform X3

    10. XM_047416274.1 → XP_047272230.1  flavin-containing monooxygenase 5 isoform X3

    11. XM_047416292.1 → XP_047272248.1  flavin-containing monooxygenase 5 isoform X4

    12. XM_006711244.5 → XP_006711307.1  flavin-containing monooxygenase 5 isoform X3

      UniProtKB/TrEMBL
      E9PJF3
      Conserved Domains (2) summary
      pfam00743
      Location:3 → 282
      FMO-like; Flavin-binding monooxygenase-like
      pfam13450
      Location:8 → 43
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    13. XM_047416278.1 → XP_047272234.1  flavin-containing monooxygenase 5 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      147582797..147624105
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335502.1 → XP_054191477.1  flavin-containing monooxygenase 5 isoform X1

      UniProtKB/Swiss-Prot
      B2RBG1, C9JJD1, P49326, Q8IV22

    2. XM_054335501.1 → XP_054191476.1  flavin-containing monooxygenase 5 isoform X1

      UniProtKB/Swiss-Prot
      B2RBG1, C9JJD1, P49326, Q8IV22

    3. XM_054335505.1 → XP_054191480.1  flavin-containing monooxygenase 5 isoform X2

    4. XM_054335503.1 → XP_054191478.1  flavin-containing monooxygenase 5 isoform X2

    5. XM_054335500.1 → XP_054191475.1  flavin-containing monooxygenase 5 isoform X1

      UniProtKB/Swiss-Prot
      B2RBG1, C9JJD1, P49326, Q8IV22

    6. XM_054335504.1 → XP_054191479.1  flavin-containing monooxygenase 5 isoform X2

    7. XM_054335508.1 → XP_054191483.1  flavin-containing monooxygenase 5 isoform X3

    8. XM_054335506.1 → XP_054191481.1  flavin-containing monooxygenase 5 isoform X3

    9. XM_054335509.1 → XP_054191484.1  flavin-containing monooxygenase 5 isoform X4

    10. XM_054335507.1 → XP_054191482.1  flavin-containing monooxygenase 5 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49326.2 GenPept UniProtKB/Swiss-Prot:P49326

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