MAOA monoamine oxidase A [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:6833
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: mouse all
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Genomic context

Location:: Xp11.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (43655006..43746817)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (43061181..43153033)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (43514254..43606064)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association between serum catecholamine levels and VNTR polymorphism in the promoter region of the monoamine oxidase A gene in forensic autopsy cases.
Title: Association between serum catecholamine levels and VNTR polymorphism in the promoter region of the monoamine oxidase A gene in forensic autopsy cases.
Impact of MAOA Gene Polymorphism on the Efficacy of Antidepressant Treatment and Craving Severity for Betel Quid Use Disorder.
Title: Impact of MAOA Gene Polymorphism on the Efficacy of Antidepressant Treatment and Craving Severity for Betel Quid Use Disorder.
Monoamine oxidase-A (MAO-A) low-expression variants and increased risk of Plasmodium vivax malaria relapses.
Title: Monoamine oxidase-A (MAO-A) low-expression variants and increased risk of Plasmodium vivax malaria relapses.
Cardiac monoamine oxidase-A inhibition protects against catecholamine-induced ventricular arrhythmias via enhanced diastolic calcium control.
Title: Cardiac monoamine oxidase-A inhibition protects against catecholamine-induced ventricular arrhythmias via enhanced diastolic calcium control.
Targeting monoamine oxidase A: a strategy for inhibiting tumor growth with both immune checkpoint inhibitors and immune modulators.
Title: Targeting monoamine oxidase A: a strategy for inhibiting tumor growth with both immune checkpoint inhibitors and immune modulators.
MAOA methylation is associated with impulsive and antisocial behaviour: dependence on allelic variation, family environment and diet.
Title: MAOA methylation is associated with impulsive and antisocial behaviour: dependence on allelic variation, family environment and diet.
MAOA suppresses the growth of gastric cancer by interacting with NDRG1 and regulating the Warburg effect through the PI3K/AKT/mTOR pathway.
Title: MAOA suppresses the growth of gastric cancer by interacting with NDRG1 and regulating the Warburg effect through the PI3K/AKT/mTOR pathway.
Association of two variable number of tandem repeats in the monoamine oxidase A gene promoter with suicide completion: The present study and meta-analysis.
Title: Association of two variable number of tandem repeats in the monoamine oxidase A gene promoter with suicide completion: The present study and meta-analysis.
High monoamine oxidase a expression predicts poor prognosis for prostate cancer patients.
Title: High monoamine oxidase a expression predicts poor prognosis for prostate cancer patients.
Impact of genetic variants within serotonin turnover enzymes on human cerebral monoamine oxidase A in vivo.
Title: Impact of genetic variants within serotonin turnover enzymes on human cerebral monoamine oxidase A in vivo.

Submit: New GeneRIF Correction See all GeneRIFs (467)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Brunner syndrome MedGen: C0796275 OMIM: 300615 GeneReviews: Not available	not available

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

EBI GWAS Catalog

Description
Genome-wide and candidate gene association study of cigarette smoking behaviors. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:191609 (e-PCR)
- UniSTS:155650

GDB:191610 (e-PCR)
- UniSTS:155651

AFMa040yf9 (e-PCR)
- UniSTS:38666

STS-AA035648 (e-PCR)
- UniSTS:71436

PMC130047P4 (e-PCR)
- UniSTS:270611

MAOA (e-PCR), detects polymorphism
- UniSTS:99629

DXS8277 (e-PCR)
- UniSTS:80957

DXS7156 (e-PCR)
- UniSTS:22112

GDB:178075 (e-PCR)
- UniSTS:98966

MAOA (e-PCR), detects polymorphism
- UniSTS:266903

GDB:313553 (e-PCR)
- UniSTS:4765

MAOA (e-PCR), detects polymorphism
- UniSTS:506563

GDB:189507 (e-PCR)
- UniSTS:155590

MAOA_1352 (e-PCR)
- UniSTS:277466

WI-19024 (e-PCR)
- UniSTS:68320

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aliphatic amine oxidase activity	IEA Inferred from Electronic Annotation more info
enables flavin adenine dinucleotide binding	IBA Inferred from Biological aspect of Ancestor more info
enables monoamine oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables primary methylamine oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables primary methylamine oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in biogenic amine metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in dopamine catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: amine oxidase [flavin-containing] A

Names: monoamine oxidase type A

NP_000231.1

EC 1.4.3.21

EC 1.4.3.4

NP_001257387.1

EC 1.4.3.21

EC 1.4.3.4

NCBI Reference Sequences (RefSeq)

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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

NG_008957.2 RefSeqGene

Range

5139..95657

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000240.4 → NP_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, BC008064, BC044787

Consensus CDS

CCDS14260.1

UniProtKB/Swiss-Prot

B4DF46, P21397, Q16426

UniProtKB/TrEMBL

Q53EZ0, Q53YE7

Related

ENSP00000340684.3, ENST00000338702.4

Conserved Domains (1) summary

COG1231
Location:15 → 460

YobN; Monoamine oxidase [Amino acid transport and metabolism]
NM_001270458.2 → NP_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, BC044787, BX530072

Consensus CDS

CCDS59163.1

UniProtKB/Swiss-Prot

P21397

UniProtKB/TrEMBL

Q49A63

Related

ENSP00000440846.1, ENST00000542639.6

Conserved Domains (1) summary

COG1231
Location:41 → 327

YobN; Monoamine oxidase [Amino acid transport and metabolism]