ENSG00000007933


Homo sapiens

Features
Gene ID: ENSG00000007933
  
Biological name :FMO3
  
Synonyms : flavin containing monooxygenase 3 / FMO3 / P31513
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q24.3
Gene start: 171090877
Gene end: 171117819
  
Corresponding Affymetrix probe sets: 206496_at (Human Genome U133 Plus 2.0 Array)   40665_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000477451
Ensembl peptide - ENSP00000356729
Ensembl peptide - ENSP00000476963
NCBI entrez gene - 2328     See in Manteia.
OMIM - 136132
RefSeq - XM_011509345
RefSeq - NM_001002294
RefSeq - NM_001319173
RefSeq - NM_001319174
RefSeq - NM_006894
RefSeq Peptide - NP_001002294
RefSeq Peptide - NP_001306102
RefSeq Peptide - NP_001306103
RefSeq Peptide - NP_008825
swissprot - P31513
swissprot - V9GYP3
swissprot - V9GZ60
swissprot - A0A024R8Z4
Ensembl - ENSG00000007933
  
Related genetic diseases (OMIM): 602079 - Trimethylaminuria, 602079
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 fmo5ENSDARG00000016357Danio rerio
 si:dkey-239i20.2ENSDARG00000043518Danio rerio
 si:dkey-239i20.4ENSDARG00000043514Danio rerio
 FMO3ENSGALG00000040573Gallus gallus
 Fmo3ENSMUSG00000026691Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FMO2 / Q99518 / flavin containing monooxygenase 2ENSG0000009496357
FMO1 / Q01740 / flavin containing monooxygenase 1ENSG0000001093255
FMO5 / P49326 / flavin containing monooxygenase 5ENSG0000013178153
FMO4 / P31512 / flavin containing monooxygenase 4ENSG0000007625853


Protein motifs (from Interpro)
Interpro ID Name
 IPR000960  Flavin monooxygenase FMO
 IPR002255  Flavin monooxygenase (FMO) 3
 IPR020946  Flavin monooxygenase-like
 IPR036188  FAD/NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006805 xenobiotic metabolic process TAS
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031090 organelle membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle TAS
 molecular_functionGO:0004497 monooxygenase activity IEA
 molecular_functionGO:0004499 N,N-dimethylaniline monooxygenase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0034899 trimethylamine monooxygenase activity IEA
 molecular_functionGO:0050660 flavin adenine dinucleotide binding IEA
 molecular_functionGO:0050661 NADP binding IEA


Pathways (from Reactome)
Pathway description
FMO oxidises nucleophiles
Defective FMO3 causes Trimethylaminuria (TMAU)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001649 Tachycardia "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001875 Neutropenia 
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 HP:0001903 Anemia 
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 HP:0003614 Trimethylaminuria 
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 HP:0006532 Pneumonia, recurrent episodes 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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