UniProt functional annotation for P21397



	UniProt functional annotation for P21397

UniProt code: P21397.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOA preferentially oxidizes biogenic amines such as 5-hydroxytryptamine (5-HT), norepinephrine and epinephrine.

Catalytic activity: Reaction=a secondary aliphatic amine + H2O + O2 = a primary amine + an aldehyde + H2O2; Xref=Rhea:RHEA:26414, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:17478, ChEBI:CHEBI:58855, ChEBI:CHEBI:65296; EC=1.4.3.4;

Cofactor: Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269|PubMed:16129825, ECO:0000269|PubMed:18391214};

Subunit: Monomer, homo- or heterodimer (containing two subunits of similar size). Each subunit contains a covalently bound flavin. Enzymatically active as monomer. {ECO:0000269|PubMed:16129825, ECO:0000269|PubMed:18391214}.

Subcellular location: Mitochondrion outer membrane; Single-pass type IV membrane protein; Cytoplasmic side.

Tissue specificity: Heart, liver, duodenum, blood vessels and kidney.

Mass spectrometry: Mass=60512; Mass_error=6; Method=Electrospray; Evidence={ECO:0000269|PubMed:11812236};

Polymorphism: A polymorphism 1.2 kb upstream of the MAOA coding sequences consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies. The polymorphism affect transcriptional activity of the MAOA gene promoter. Alleles with 3.5 or 4 copies of the repeat sequence are transcribed 2 to 10 times more efficiently than those with 3 or 5 copies of the repeat.

Disease: Brunner syndrome (BRNRS) [MIM:300615]: A form of X-linked non- dysmorphic mild mental retardation. Male patients are affected by borderline mental retardation and exhibit abnormal behavior, including disturbed regulation of impulsive aggression. Obligate female carriers have normal intelligence and behavior. {ECO:0000269|PubMed:8211186}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the flavin monoamine oxidase family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOA preferentially oxidizes biogenic amines such as 5-hydroxytryptamine (5-HT), norepinephrine and epinephrine.


Catalytic activity:		Reaction=a secondary aliphatic amine + H2O + O2 = a primary amine + an aldehyde + H2O2; Xref=Rhea:RHEA:26414, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:17478, ChEBI:CHEBI:58855, ChEBI:CHEBI:65296; EC=1.4.3.4;
Cofactor:		Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269\|PubMed:16129825, ECO:0000269\|PubMed:18391214};
Subunit:		Monomer, homo- or heterodimer (containing two subunits of similar size). Each subunit contains a covalently bound flavin. Enzymatically active as monomer. {ECO:0000269\|PubMed:16129825, ECO:0000269\|PubMed:18391214}.
Subcellular location:		Mitochondrion outer membrane; Single-pass type IV membrane protein; Cytoplasmic side.
Tissue specificity:		Heart, liver, duodenum, blood vessels and kidney.
Mass spectrometry:		Mass=60512; Mass_error=6; Method=Electrospray; Evidence={ECO:0000269\|PubMed:11812236};
Polymorphism:		A polymorphism 1.2 kb upstream of the MAOA coding sequences consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies. The polymorphism affect transcriptional activity of the MAOA gene promoter. Alleles with 3.5 or 4 copies of the repeat sequence are transcribed 2 to 10 times more efficiently than those with 3 or 5 copies of the repeat.
Disease:		Brunner syndrome (BRNRS) [MIM:300615]: A form of X-linked non- dysmorphic mild mental retardation. Male patients are affected by borderline mental retardation and exhibit abnormal behavior, including disturbed regulation of impulsive aggression. Obligate female carriers have normal intelligence and behavior. {ECO:0000269\|PubMed:8211186}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the flavin monoamine oxidase family. {ECO:0000305}.