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MAOA monoamine oxidase A [ Homo sapiens (human) ]

Gene ID: 4128, updated on 13-Sep-2014
Official Symbol
MAOAprovided by HGNC
Official Full Name
monoamine oxidase Aprovided by HGNC
Primary source
HGNC:HGNC:6833
Locus tag
RP1-201D17__B.2
See related
Ensembl:ENSG00000189221; HPRD:02400; MIM:309850
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
MAO-A
Summary
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]
See MAOA in Epigenomics, MapViewer
Location:
Xp11.3
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (43654907..43746824)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (43514155..43606071)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene IMP (inosine monophosphate) dehydrogenase 1 pseudogene 4 Neighboring gene Nanog homeobox pseudogene 10 Neighboring gene monoamine oxidase B Neighboring gene Norrie disease (pseudoglioma)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Monoamine oxidase A deficiency
MedGen: C0796275 OMIM: 300615 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-09-26)

ISCA Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2012-09-26)

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide and candidate gene association study of cigarette smoking behaviors.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
primary amine oxidase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cellular biogenic amine metabolic process TAS
Traceable Author Statement
more info
PubMed 
dopamine catabolic process IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter biosynthetic process TAS
Traceable Author Statement
more info
 
neurotransmitter catabolic process IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter secretion TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
Preferred Names
amine oxidase [flavin-containing] A
Names
amine oxidase [flavin-containing] A
monoamine oxidase type A
NP_000231.1
NP_001257387.1

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.

Genomic

  1. NG_008957.1 

    Range
    3747..95663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000240.3NP_000231.1  amine oxidase [flavin-containing] A isoform 1

    See proteins identical to NP_000231.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL020990, AL109855, BC008064, BC044787
    Consensus CDS
    CCDS14260.1
    UniProtKB/Swiss-Prot
    P21397
    UniProtKB/TrEMBL
    Q49A63
    UniProtKB/TrEMBL
    Q53YE7
    Conserved Domains (3) summary
    COG1231
    Location:15460
    Blast Score: 714
    COG1231; Monoamine oxidase [Amino acid transport and metabolism]
    pfam13450
    Location:1884
    Blast Score: 172
    NAD_binding_8; NAD(P)-binding Rossmann-like domain
    cl19156
    Location:224298
    Blast Score: 91
    PRK11728; hydroxyglutarate oxidase; Provisional
  2. NM_001270458.1NP_001257387.1  amine oxidase [flavin-containing] A isoform 2

    See proteins identical to NP_001257387.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and uses a downstream, in-frame start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK293926, AL020990, AL109855, BC044787, BX530072
    Consensus CDS
    CCDS59163.1
    UniProtKB/Swiss-Prot
    P21397
    UniProtKB/TrEMBL
    Q49A63
    Related
    ENSP00000440846, ENST00000542639
    Conserved Domains (2) summary
    COG1231
    Location:41327
    Blast Score: 501
    COG1231; Monoamine oxidase [Amino acid transport and metabolism]
    cl19156
    Location:91165
    Blast Score: 92
    PRK11728; hydroxyglutarate oxidase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    43654907..43746824
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    41244782..41335636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    43547315..43639233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)