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

    Gene ID: 1312, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:2228
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See COMT in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19941772..19969975)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20319463..20347602)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19929295..19957498)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19878079-19878587 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19878588-19879096 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19879097-19879604 Neighboring gene thioredoxin reductase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19879605-19880113 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19880414-19880618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19883730-19884368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19889902-19890838 Neighboring gene ribosomal protein L8 pseudogene 5 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:19894389-19895588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19904338-19904948 Neighboring gene endogenous retrovirus group K member 24 Gag polyprotein-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19927919-19928489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19928490-19929059 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19931341-19931910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19931911-19932479 Neighboring gene Sharpr-MPRA regulatory region 10527 Neighboring gene Sharpr-MPRA regulatory region 2516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19940787-19941410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19941411-19942032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19942297-19942948 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19943251-19943418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19949617-19950332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19950333-19951048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19951049-19951764 Neighboring gene microRNA 4761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19970318-19971255 Neighboring gene ARVCF delta catenin family member Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19971256-19972192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19973130-19974065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13470 Neighboring gene uncharacterized LOC124905082 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19998201-19999025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20018676-20019372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18668 Neighboring gene transport and golgi organization 2 homolog Neighboring gene microRNA 185

    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
    Panic disorder 1
    MedGen: C1868649 OMIM: 167870 GeneReviews: Not available
    not available
    Schizophrenia
    MedGen: C0036341 OMIM: 181500 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables O-methyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables catechol O-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in artery development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in catecholamine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in catecholamine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to cocaine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to phosphate starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebellar cortex morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol efflux IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of temperature stimulus involved in sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in developmental process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dopamine catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in dopamine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dopamine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in exploration behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glomerulus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in habituation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mastication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in memory 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 organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in norepinephrine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in norepinephrine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in prostaglandin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal albumin absorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal filtration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal sodium excretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renin secretion into blood stream IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to amphetamine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to corticosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cytokine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to dopamine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to food IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to salt IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to wounding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in startle response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic transmission, dopaminergic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome HDA PubMed 
    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
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in synapse 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
      A8MPV9, P21964, Q6IB07, Q6ICE6, Q9BWC7
      UniProtKB/TrEMBL
      A0A140VJG8, B8XPJ8
      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
      A8MPV9, P21964, Q6IB07, Q6ICE6, Q9BWC7
      UniProtKB/TrEMBL
      A0A140VJG8, B8XPJ8
      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
      A8MPV9, P21964, Q6IB07, Q6ICE6, Q9BWC7
      UniProtKB/TrEMBL
      A0A140VJG8, B8XPJ8
      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
      UniProtKB/Swiss-Prot
      A8MPV9, P21964, Q6IB07, Q6ICE6, Q9BWC7
      UniProtKB/TrEMBL
      A0A140VJG8, B8XPJ8
      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/TrEMBL
      B8XPJ7
      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: 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_000022.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      20319463..20347602
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)