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

Gene ID: 1312, updated on 10-Dec-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
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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: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Panic disorder 1
MedGen: C1868649 OMIM: 167870 GeneReviews: Not available
Compare labs
Schizophrenia
MedGen: C0036341 OMIM: 181500 GeneReviews: Not available
Compare labs

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

General gene information

Gene Ontology Provided by GOA

Items 1 - 25 of 45
Process Evidence Code Pubs
involved_in artery development  
involved_in behavioral fear response  
involved_in catecholamine catabolic process  
involved_in catecholamine catabolic process PubMed 
involved_in cellular response to cocaine  
involved_in cellular response to phosphate starvation  
involved_in cerebellar cortex morphogenesis  
involved_in cholesterol efflux  
involved_in detection of temperature stimulus involved in sensory perception of pain  
involved_in developmental process  
involved_in dopamine catabolic process  
involved_in dopamine metabolic process  
involved_in dopamine secretion  
involved_in exploration behavior  
involved_in gene expression  
involved_in glomerulus development  
involved_in glycogen metabolic process  
involved_in habituation  
involved_in mastication  
involved_in memory  
involved_in methylation PubMed 
involved_in methylation  
involved_in multicellular organism growth  
involved_in norepinephrine metabolic process  
involved_in norepinephrine secretion  
involved_in prostaglandin metabolic process  
involved_in renal albumin absorption  
involved_in renal filtration  
involved_in renal sodium excretion  
involved_in renin secretion into blood stream  
involved_in response to amphetamine  
involved_in response to angiotensin  
involved_in response to corticosterone  
involved_in response to cytokine  
involved_in response to dopamine  
involved_in response to food  
involved_in response to hypoxia  
involved_in response to oxidative stress  
involved_in response to salt  
involved_in response to toxic substance  
involved_in response to wounding  
involved_in response to xenobiotic stimulus  
involved_in startle response  
involved_in synaptic transmission, dopaminergic  
involved_in visual learning  
Items 1 - 25 of 45
Component Evidence Code Pubs
is_active_in axon  
located_in cytosol PubMed 
located_in cytosol  
is_active_in dendrite  
located_in extracellular exosome PubMed 
located_in intracellular membrane-bounded organelle  
located_in membrane PubMed 
is_active_in membrane  
located_in plasma membrane  
located_in synapse  

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)

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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_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)
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