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    MAOA monoamine oxidase A [ Homo sapiens (human) ]

    Gene ID: 4128, updated on 3-Jul-2016
    Official Symbol
    MAOAprovided by HGNC
    Official Full Name
    monoamine oxidase Aprovided by HGNC
    Primary source
    HGNC:HGNC:6833
    See related
    Ensembl:ENSG00000189221 HPRD:02400; 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
    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]
    Orthologs
    Location:
    Xp11.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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, norrin cystine knot growth factor

    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)

    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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    primary amine oxidase activity TAS
    Traceable Author Statement
    more info
     
    serotonin binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular biogenic amine metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    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
     
    phenylethylamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    serotonin metabolic 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    amine oxidase [flavin-containing] A
    Names
    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_008957.2 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, OTTHUMP00000023165, ENST00000338702, OTTHUMT00000056300
      Conserved Domains (2) summary
      COG1231
      Location:15460
      YobN; Monoamine oxidase [Amino acid transport and metabolism]
      pfam13450
      Location:1884
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
    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, ENST00000542639
      Conserved Domains (1) summary
      COG1231
      Location:41327
      YobN; Monoamine oxidase [Amino acid transport and metabolism]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

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