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    MAOA monoamine oxidase A [ Homo sapiens (human) ]

    Gene ID: 4128, updated on 10-Dec-2024

    Summary

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    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

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    See MAOA in Genome Data Viewer
    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_000023.11Genomic Context describing neighboring genes Neighboring gene inosine monophosphate dehydrogenase 1 pseudogene 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:43201432-43202228 Neighboring gene Nanog homeobox pseudogene 10 Neighboring gene MPRA-validated peak7375 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:43309398-43310202 Neighboring gene MPRA-validated peak7376 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chrX:43514055-43514449 Neighboring gene monoamine oxidase B Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:43808655-43809172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:43809173-43809689 Neighboring gene NDP antisense RNA 1 Neighboring gene norrin cystine knot growth factor NDP

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. MAOA, maltreatment, and gene-environment interaction predicting children's mental health: new evidence and a meta-analysis. Kim-Cohen J, et al. Mol Psychiatry, 2006 Oct. PMID 16801953
    2. Monoamine oxidase A down-regulation contributes to high metanephrine concentration in pheochromocytoma. Grouzmann E, et al. J Clin Endocrinol Metab, 2012 Aug. PMID 22569243
    3. The c.1460C>T polymorphism of MAO-A is associated with the risk of depression in postmenopausal women. Słopień R, et al. ScientificWorldJournal, 2012. PMID 22619623, Free PMC Article
    4. The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males. Rosenberg S, et al. Hum Genet, 2006 Nov. PMID 16896926
    5. Allelic mRNA expression of X-linked monoamine oxidase a (MAOA) in human brain: dissection of epigenetic and genetic factors. Pinsonneault JK, et al. Hum Mol Genet, 2006 Sep 1. PMID 16893905

    See all (648) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 PubMed 
    located_in mitochondrion HTP 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
    NP_001257387.1

    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

    1. NG_008957.2 RefSeqGene

      Range
      5139..95657
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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]

    2. 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]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      43655006..43746817
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      43061181..43153033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P21397.1 GenPept UniProtKB/Swiss-Prot:P21397

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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