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    MAOA monoamine oxidase A [ Homo sapiens (human) ]

    Gene ID: 4128, updated on 6-Sep-2021

    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
    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
    NEW
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    Genomic context

    See MAOA in Genome Data Viewer
    Location:
    Xp11.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (43655006..43746817)
    105.20201022 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 Nanog homeobox pseudogene 10 Neighboring gene monoamine oxidase B Neighboring gene NDP antisense RNA 1 Neighboring gene norrin cystine knot growth factor NDP

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Brunner syndrome
    MedGen: C0796275 OMIM: 300615 GeneReviews: Not available
    Compare labs
    Genome-wide and candidate gene association study of cigarette smoking behaviors.
    GeneReviews: 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables flavin adenine dinucleotide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables monoamine oxidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables primary amine oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables primary amine oxidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular 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 neurotransmitter catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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_000240.4NP_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
      P21397
      UniProtKB/TrEMBL
      Q49A63, Q53YE7
      Related
      ENSP00000340684.3, ENST00000338702.4
      Conserved Domains (1) summary
      COG1231
      Location:15460
      YobN; Monoamine oxidase [Amino acid transport and metabolism]
    2. NM_001270458.2NP_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, ENST00000542639.5
      Conserved Domains (1) summary
      COG1231
      Location:41327
      YobN; Monoamine oxidase [Amino acid transport and metabolism]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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