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

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80671 (e-PCR)
- UniSTS:91403

D5S2639 (e-PCR)
- UniSTS:30222

SHGC-184 (e-PCR)
- UniSTS:51740

G34829 (e-PCR)
- UniSTS:6699

AL033864 (e-PCR)
- UniSTS:93740

AL009757 (e-PCR)
- UniSTS:59697

SHGC-35897 (e-PCR)
- UniSTS:37977

SHGC-146 (e-PCR)
- UniSTS:87394

SHGC-85204 (e-PCR)
- UniSTS:104044

RH47920 (e-PCR)
- UniSTS:55198

RH104159 (e-PCR)
- UniSTS:98484

SHGC-162 (e-PCR)
- UniSTS:81375

WI-18060 (e-PCR)
- UniSTS:48626

D1S3324 (e-PCR)
- UniSTS:21235

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

EC 1.14.13.8

EC 1.6.3.1

NP_001138302.1

EC 1.14.13.8

EC 1.6.3.1

NP_001452.2

EC 1.14.13.8

EC 1.6.3.1

XP_005273003.1

EC 1.14.13.8

EC 1.6.3.1

XP_005273004.1

EC 1.14.13.8

EC 1.6.3.1

XP_005273005.1

EC 1.14.13.8

EC 1.6.3.1

XP_006711307.1

EC 1.14.13.8

EC 1.6.3.1

XP_011507652.1

EC 1.14.13.8

EC 1.6.3.1

XP_011507653.1

EC 1.14.13.8

EC 1.6.3.1

XP_016856290.1

EC 1.14.13.8

EC 1.6.3.1

XP_016856291.1

EC 1.14.13.8

EC 1.6.3.1

XP_047272206.1

EC 1.14.13.8

EC 1.6.3.1

XP_047272230.1

EC 1.14.13.8

EC 1.6.3.1

XP_047272234.1

EC 1.14.13.8

EC 1.6.3.1

XP_047272241.1

EC 1.14.13.8

EC 1.6.3.1

XP_047272248.1

EC 1.14.13.8

EC 1.6.3.1

XP_054191475.1

EC 1.14.13.8

EC 1.6.3.1

XP_054191476.1

EC 1.14.13.8

EC 1.6.3.1

XP_054191477.1

EC 1.14.13.8

EC 1.6.3.1

XP_054191478.1

EC 1.14.13.8

EC 1.6.3.1

XP_054191479.1

EC 1.14.13.8

EC 1.6.3.1

XP_054191480.1

EC 1.14.13.8

EC 1.6.3.1

XP_054191481.1

EC 1.14.13.8

EC 1.6.3.1

XP_054191482.1

EC 1.14.13.8

EC 1.6.3.1

XP_054191483.1

EC 1.14.13.8

EC 1.6.3.1

XP_054191484.1

EC 1.14.13.8

EC 1.6.3.1

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)

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
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)
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

147184305..147227284 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
XM_047416250.1 → XP_047272206.1 flavin-containing monooxygenase 5 isoform X2
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
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
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
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
XM_047416285.1 → XP_047272241.1 flavin-containing monooxygenase 5 isoform X3
XM_047416274.1 → XP_047272230.1 flavin-containing monooxygenase 5 isoform X3
XM_047416292.1 → XP_047272248.1 flavin-containing monooxygenase 5 isoform X4
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
XM_047416278.1 → XP_047272234.1 flavin-containing monooxygenase 5 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

147582797..147624105

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B2RBG1, C9JJD1, P49326, Q8IV22
XM_054335501.1 → XP_054191476.1 flavin-containing monooxygenase 5 isoform X1

UniProtKB/Swiss-Prot

B2RBG1, C9JJD1, P49326, Q8IV22
XM_054335505.1 → XP_054191480.1 flavin-containing monooxygenase 5 isoform X2
XM_054335503.1 → XP_054191478.1 flavin-containing monooxygenase 5 isoform X2
XM_054335500.1 → XP_054191475.1 flavin-containing monooxygenase 5 isoform X1

UniProtKB/Swiss-Prot

B2RBG1, C9JJD1, P49326, Q8IV22
XM_054335504.1 → XP_054191479.1 flavin-containing monooxygenase 5 isoform X2
XM_054335508.1 → XP_054191483.1 flavin-containing monooxygenase 5 isoform X3
XM_054335506.1 → XP_054191481.1 flavin-containing monooxygenase 5 isoform X3
XM_054335509.1 → XP_054191484.1 flavin-containing monooxygenase 5 isoform X4
XM_054335507.1 → XP_054191482.1 flavin-containing monooxygenase 5 isoform X3