Human Gene MAOA (uc004dfy.4)
  Description: Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
RefSeq Summary (NM_000240): This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012].
Transcript (Including UTRs)
   Position: hg19 chrX:43,514,155-43,606,071 Size: 91,917 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chrX:43,515,590-43,603,760 Size: 88,171 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:43,514,155-43,606,071)mRNA (may differ from genome)Protein (527 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDHuman Cortex Gene ExpressionLynx
MalacardsMGIneXtProtOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AOFA_HUMAN
DESCRIPTION: RecName: Full=Amine oxidase [flavin-containing] A; EC=1.4.3.4; AltName: Full=Monoamine oxidase type A; Short=MAO-A;
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: RCH(2)NHR' + H(2)O + O(2) = RCHO + R'NH(2) + H(2)O(2).
COFACTOR: FAD.
SUBUNIT: Monomer, homo- or heterodimer (containing two subunits of similar size). Each subunit contains a covalently bound flavin. Enzymatically active as monomer.
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; Range=1-527; Source=PubMed:11812236;
DISEASE: Defects in MAOA are the cause of Brunner syndrome (BRUNS) [MIM:300615]. Brunner syndrome is a form of X-linked non- dysmorphic mild mental retardation. Male patients are affected by a syndrome of borderline mental retardation and exhibit abnormal behavior, including disturbed regulation of impulsive aggression. Obligate female carriers have normal intelligence and behavior.
SIMILARITY: Belongs to the flavin monoamine oxidase family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MAOA";
WEB RESOURCE: Name=Wikipedia; Note=Monoamine oxidase entry; URL="http://en.wikipedia.org/wiki/Monoamine_oxidase";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MAOA
CDC HuGE Published Literature: MAOA
Positive Disease Associations: ADHD , ADHD | attention-deficit hyperactivity disorder , aggression, impulsivity, and central nervous system serotonergic responsivity , alcohol abuse , alcoholism , alcoholism personality disorders , Alzheimer's Disease , Alzheimer's disease; Parkinson's disease , antisocial personality disorder , anxiety disorder , anxiety disorder; depressive disorder, major; panic disorder , attention deficit hyperactivity disorder , autism , behavioural traits , bipolar affective disorder , bipolar disorder , body mass obesity , cytogenetic studies , depressed suicide , depression , depression sleep disorders , Depression, Postpartum| , depression; thrombocyte MAO activity , depressive disorder, major; bipolar disorder , early onset alcoholism/substance abuse. , fibromyalgia , heroin addiction , major depressive disorder , neuroticism , obesity , panic disorder , Parkinson's disease , pathologic gambling , personality , personality disorders , personality traits , restless legs syndrome , schizophrenia , sleep disorders , sleep disorders; depressive disorder, major , smoking behavior , Tourette syndrome
Related Studies:
  1. ADHD
    Manor I et al. 2002, Family-based and association studies of monoamine oxidase A and attention deficit hyperactivity disorder (ADHD): preferential transmission of the long promoter-region repeat and its association with impaired performance on a continuous performance test (T, Molecular psychiatry. 2002 ;7(6):626-32. [PubMed 12140786]
    All three complementary approaches employed (family-based, case-control and quantitative trait design) suggest a role for the MAO A promoter-region polymorphism in conferring risk for ADHD in our patient population.
  2. ADHD | attention-deficit hyperactivity disorder
    Ana P Guimaraes , et al. The international journal of neuropsychopharmacology 2009 12(5):709-14, MAOA is associated with methylphenidate improvement of oppositional symptoms in boys with attention deficit hyperactivity disorder., The international journal of neuropsychopharmacology 2009 12(5):709-14. [PubMed 19309535]
  3. aggression, impulsivity, and central nervous system serotonergic responsivity
    Manuck SB et al. 2000, A regulatory polymorphism of the monoamine oxidase-A gene may be associated with variability in aggression impulsivity and central nervous system serotonergic responsivity., Psychiatry research. 2000 Jul;95(1):23-Sep. [PubMed 10904119]
    We conclude that the MAOA-uVNTR regulatory polymorphism may contribute, in part, to individual differences in both CNS serotonergic responsivity and personality traits germane to impulse control and antagonistic behavior.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: MAOA
Diseases sorted by gene-association score: brunner syndrome* (1121), maoa-related behavior disorders* (100), antisocial personality disorder (35), social phobia (33), conduct disorder (31), endogenous depression (29), personality disorder (20), borderline personality disorder (20), paranoid schizophrenia (17), phobic disorder (17), atypical depressive disorder (17), dysthymic disorder (16), serotonin syndrome (14), anxiety disorder (14), mood disorder (14), norrie disease (13), agoraphobia (13), chronic fatigue syndrome (11), generalized anxiety disorder (11), oppositional defiant disorder (10), hepatic encephalopathy (10), panic disorder (10), postpartum depression (10), phobia, specific (9), avoidant personality disorder (9), pathological gambling (9), dependent personality disorder (8), obsessive-compulsive disorder (8), post-traumatic stress disorder (8), exhibitionism (8), sudden infant death syndrome (8), substance abuse (8), retinitis pigmentosa-50 (8), bulimia nervosa (7), alcohol dependence (7), attention deficit-hyperactivity disorder (7), substance dependence (7), paraphilia disorder (7), mental depression (6), migraine with or without aura 1 (6), dystonia-1, torsion (6), kleptomania (5), early-onset schizophrenia (5), nicotine dependence, protection against (5), mediastinal malignant lymphoma (5), mediastinal gray zone lymphoma (5), pure autonomic failure (3), parkinson disease, late-onset (3), autism spectrum disorder (2), schizophrenia (2), disease of mental health (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 111.16 RPKM in Small Intestine - Terminal Ileum
Total median expression: 1572.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -543.401435-0.379 Picture PostScript Text
3' UTR -644.512311-0.279 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002937 - Amino_oxidase
IPR001613 - Flavin_amine_oxidase

Pfam Domains:
PF00070 - Pyridine nucleotide-disulphide oxidoreductase
PF00890 - FAD binding domain
PF01266 - FAD dependent oxidoreductase
PF01494 - FAD binding domain
PF01593 - Flavin containing amine oxidoreductase
PF13450 - NAD(P)-binding Rossmann-like domain

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
51905 - FAD/NAD(P)-binding domain
51971 - Nucleotide-binding domain
51984 - MurCD N-terminal domain
54373 - FAD-linked reductases, C-terminal domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1H8Q - Model 2BXR - X-ray MuPIT 2BXS - X-ray MuPIT 2Z5X - X-ray 2Z5Y - X-ray


ModBase Predicted Comparative 3D Structure on P21397
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008131 primary amine oxidase activity
GO:0016491 oxidoreductase activity

Biological Process:
GO:0006576 cellular biogenic amine metabolic process
GO:0006584 catecholamine metabolic process
GO:0019221 cytokine-mediated signaling pathway
GO:0042133 neurotransmitter metabolic process
GO:0042135 neurotransmitter catabolic process
GO:0042420 dopamine catabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC044787 - Homo sapiens monoamine oxidase A, mRNA (cDNA clone MGC:42558 IMAGE:4824582), complete cds.
AK223499 - Homo sapiens mRNA for monoamine oxidase A variant, clone: FCC121A07.
M68840 - Human monoamine oxidase A (MAOA) mRNA, complete cds.
AK293926 - Homo sapiens cDNA FLJ61220 complete cds, highly similar to Amine oxidase (flavin-containing) A (EC 1.4.3.4).
AK291769 - Homo sapiens cDNA FLJ76052 complete cds, highly similar to Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.
BC008064 - Homo sapiens monoamine oxidase A, mRNA (cDNA clone MGC:2288 IMAGE:2990003), complete cds.
M69226 - Human monoamine oxidase (MAOA) mRNA, complete cds.
CU675911 - Synthetic construct Homo sapiens gateway clone IMAGE:100020324 5' read MAOA mRNA.
KJ897163 - Synthetic construct Homo sapiens clone ccsbBroadEn_06557 MAOA gene, encodes complete protein.
DQ890676 - Synthetic construct clone IMAGE:100003306; FLH165001.01X; RZPDo839E07158D monoamine oxidase A (MAOA) gene, encodes complete protein.
DQ893857 - Synthetic construct Homo sapiens clone IMAGE:100008317; FLH164997.01L; RZPDo839E07157D monoamine oxidase A (MAOA) gene, encodes complete protein.
BT006651 - Homo sapiens monoamine oxidase A mRNA, complete cds.
JD191201 - Sequence 172225 from Patent EP1572962.
AK123241 - Homo sapiens cDNA FLJ41247 fis, clone BRAMY2032777.
X17192 - Human mRNA for placental monoamine oxidase A (MAO A) (EC 1.4.3.4).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00260 - Glycine, serine and threonine metabolism
hsa00330 - Arginine and proline metabolism
hsa00340 - Histidine metabolism
hsa00350 - Tyrosine metabolism
hsa00360 - Phenylalanine metabolism
hsa00380 - Tryptophan metabolism
hsa00982 - Drug metabolism - cytochrome P450
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-0 - putrescine degradation III
PWY6666-2 - dopamine degradation

Reactome (by CSHL, EBI, and GO)

Protein P21397 (Reactome details) participates in the following event(s):

R-HSA-141186 MAOA:FAD oxidatively deaminates of 5HT
R-HSA-374909 Metabolism of Noradrenaline
R-HSA-379382 oxidation of dopamine to 3,4dihydroxyphenylacetic acid (DOPAC)
R-HSA-379395 Oxidation of 3-Methoxytyramine to homovanillic acid
R-HSA-6785807 Interleukin-4 and 13 signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-141333 Biogenic amines are oxidatively deaminated to aldehydes by MAOA and MAOB
R-HSA-380612 Metabolism of serotonin
R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle
R-HSA-379398 Enzymatic degradation of Dopamine by monoamine oxidase
R-HSA-379397 Enzymatic degradation of dopamine by COMT
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-140179 Amine Oxidase reactions
R-HSA-380615 Serotonin clearance from the synaptic cleft
R-HSA-112310 Neurotransmitter release cycle
R-HSA-379401 Dopamine clearance from the synaptic cleft
R-HSA-168256 Immune System
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-112311 Neurotransmitter clearance
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-211859 Biological oxidations
R-HSA-112316 Neuronal System
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: AOFA_HUMAN, NM_000240, NP_001257387, P21397, Q16426, uc004dfy.3
UCSC ID: uc004dfy.4
RefSeq Accession: NM_000240
Protein: P21397 (aka AOFA_HUMAN)
CCDS: CCDS14260.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000240.3
exon count: 15CDS single in 3' UTR: no RNA size: 5330
ORF size: 1584CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1659.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.