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MAOA monoamine oxidase A [ Homo sapiens (human) ]

Gene ID: 4128, updated on 9-Sep-2018

Summary

Official Symbol
MAOAprovided by HGNC
Official Full Name
monoamine oxidase Aprovided by HGNC
Primary source
HGNC:HGNC:6833
See related
Ensembl:ENSG00000189221 MIM:309850; Vega:OTTHUMG00000021387
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
BRNRS; 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]
Expression
Broad expression in small intestine (RPKM 94.9), fat (RPKM 78.4) and 19 other tissues See more
Orthologs

Genomic context

See MAOA in Genome Data Viewer
Location:
Xp11.3
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 inosine monophosphate dehydrogenase 1 pseudogene 4 Neighboring gene Nanog homeobox pseudogene 10 Neighboring gene monoamine oxidase B Neighboring gene NDP antisense RNA 1 Neighboring gene NDP, norrin cystine knot growth factor

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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)

ClinGen Genome Curation Page
Haploinsufficency

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

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide and candidate gene association study of cigarette smoking behaviors.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
dopamine catabolic process TAS
Traceable Author Statement
more info
PubMed 
neurotransmitter catabolic process IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter metabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
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
PubMed 
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
amine oxidase [flavin-containing] A
Names
monoamine oxidase type A
NP_000231.1
NP_001257387.1

NCBI Reference Sequences (RefSeq)

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_008957.2 RefSeqGene

    Range
    3747..95664
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for 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, Q53YE7
    Related
    ENSP00000340684.3, OTTHUMP00000023165, ENST00000338702.3, OTTHUMT00000056300
    Conserved Domains (1) summary
    COG1231
    Location:15460
    YobN; Monoamine oxidase [Amino acid transport and metabolism]
  2. NM_001270458.1NP_001257387.1  amine oxidase [flavin-containing] A isoform 2

    See identical proteins and their annotated locations for 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
    ENSP00000440846.1, ENST00000542639.5
    Conserved Domains (1) summary
    COG1231
    Location:41327
    YobN; Monoamine oxidase [Amino acid transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

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