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

Gene ID: 2330, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (147184305..147227284, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (147582797..147624105)
105.20220307 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. 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
  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. 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
  4. Baeyer-Villiger Monooxygenase FMO5 as Entry Point in Drug Metabolism. Fiorentini F, et al. ACS Chem Biol, 2017 Sep 15. PMID 28783300
  5. Biocatalytic Characterization of Human FMO5: Unearthing Baeyer-Villiger Reactions in Humans. Fiorentini F, et al. ACS Chem Biol, 2016 Apr 15. PMID 26771671

See all (28) 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)

Genotypes

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 dehydrogenase 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_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
    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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