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    COMT catechol-O-methyltransferase [ Homo sapiens (human) ]

    Gene ID: 1312, updated on 26-Jul-2021

    Summary

    Official Symbol
    COMTprovided by HGNC
    Official Full Name
    catechol-O-methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:2228
    See related
    Ensembl:ENSG00000093010 MIM:116790
    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
    HEL-S-98n
    Summary
    Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]
    Expression
    Ubiquitous expression in placenta (RPKM 32.2), adrenal (RPKM 24.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See COMT in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19941772..19969975)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19929295..19957498)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene G protein subunit beta 1 like Neighboring gene retrotransposon Gag like 10 Neighboring gene thioredoxin reductase 2 Neighboring gene ribosomal protein L8 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 10527 Neighboring gene Sharpr-MPRA regulatory region 2516 Neighboring gene microRNA 4761 Neighboring gene ARVCF delta catenin family member Neighboring gene transport and golgi organization 2 homolog Neighboring gene microRNA 185 Neighboring gene microRNA 3618 Neighboring gene DGCR8 microprocessor complex subunit

    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
    An atlas of genetic influences on human blood metabolites.
    GeneReviews: Not available
    Panic disorder 1
    MedGen: C1868649 OMIM: 167870 GeneReviews: Not available
    Compare labs
    Schizophrenia
    MedGen: C0036341 OMIM: 181500 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with catechol-O-methyltransferase (COMT) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    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 L-dopa O-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables O-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables catechol O-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables catechol O-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables catechol O-methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables orcinol O-methyltransferase 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 catecholamine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in catecholamine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to phosphate starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in developmental process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in dopamine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dopamine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in estrogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in learning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in methylation TAS
    Traceable Author Statement
    more info
     
    involved_in multicellular organismal reproductive process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of dopamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of renal sodium excretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurotransmitter catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of homocysteine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in short-term memory IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    catechol O-methyltransferase
    Names
    epididymis secretory sperm binding protein Li 98n
    testicular tissue protein Li 42
    NP_000745.1
    NP_001128633.1
    NP_001128634.1
    NP_001349757.1
    NP_009294.1

    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_011526.1 RefSeqGene

      Range
      5001..33236
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1010

    mRNA and Protein(s)

    1. NM_000754.4NP_000745.1  catechol O-methyltransferase isoform MB-COMT

      See identical proteins and their annotated locations for NP_000745.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as MB-COMT) represents the predominant transcript and encodes the longer isoform (MB-COMT). Variants 1, 2, 3, and 5 all encode isoform MB-COMT and may also make the shorter isoform S-COMT at a low level. MB-COMT is a membrane-bound protein.
      Source sequence(s)
      AC005663, AK290440, BX461394
      Consensus CDS
      CCDS13770.1
      UniProtKB/Swiss-Prot
      P21964
      UniProtKB/TrEMBL
      A0A140VJG8
      Related
      ENSP00000354511.6, ENST00000361682.11
      Conserved Domains (1) summary
      COG4122
      Location:51264
      YrrM; Predicted O-methyltransferase YrrM [General function prediction only]
    2. NM_001135161.2NP_001128633.1  catechol O-methyltransferase isoform MB-COMT

      See identical proteins and their annotated locations for NP_001128633.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 5 all encode isoform MB-COMT and may also make the shorter isoform S-COMT at a low level. MB-COMT is a membrane-bound protein.
      Source sequence(s)
      AC005663, AK290440, BE386545
      Consensus CDS
      CCDS13770.1
      UniProtKB/Swiss-Prot
      P21964
      UniProtKB/TrEMBL
      A0A140VJG8
      Related
      ENSP00000403958.1, ENST00000412786.5
      Conserved Domains (1) summary
      COG4122
      Location:51264
      YrrM; Predicted O-methyltransferase YrrM [General function prediction only]
    3. NM_001135162.2NP_001128634.1  catechol O-methyltransferase isoform MB-COMT

      See identical proteins and their annotated locations for NP_001128634.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 5 all encode isoform MB-COMT and may also make the shorter isoform S-COMT at a low level. MB-COMT is a membrane-bound protein.
      Source sequence(s)
      AC005663, AK290440, BE728779
      Consensus CDS
      CCDS13770.1
      UniProtKB/Swiss-Prot
      P21964
      UniProtKB/TrEMBL
      A0A140VJG8
      Related
      ENSP00000385150.3, ENST00000406520.7
      Conserved Domains (1) summary
      COG4122
      Location:51264
      YrrM; Predicted O-methyltransferase YrrM [General function prediction only]
    4. NM_001362828.2NP_001349757.1  catechol O-methyltransferase isoform MB-COMT

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 5 all encode isoform MB-COMT and may also make the shorter isoform S-COMT at a low level. MB-COMT is a membrane-bound protein.
      Source sequence(s)
      AC000090, AC005663
      Consensus CDS
      CCDS13770.1
      Related
      ENSP00000385917.1, ENST00000403710.5
      Conserved Domains (1) summary
      COG4122
      Location:51264
      YrrM; Predicted O-methyltransferase YrrM [General function prediction only]
    5. NM_007310.3NP_009294.1  catechol O-methyltransferase isoform S-COMT

      See identical proteins and their annotated locations for NP_009294.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as S-COMT) contains a shorter 5' UTR and a translation start site which lies 50 codons downstream compared to that of variant 1. The resulting isoform (S-COMT) is shorter at the N-terminus compared to isoform MB-COMT. S-COMT is a soluble protein.
      Source sequence(s)
      AC005663, AK290440
      Consensus CDS
      CCDS46663.1
      UniProtKB/Swiss-Prot
      P21964
      Related
      ENSP00000416778.1, ENST00000449653.5
      Conserved Domains (1) summary
      COG4122
      Location:1177
      YrrM; Predicted O-methyltransferase YrrM [General function prediction only]

    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_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      19941772..19969975
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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