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

Gene ID: 1312, updated on 23-Mar-2015
Official Symbol
COMTprovided by HGNC
Official Full Name
catechol-O-methyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:2228
See related
Ensembl:ENSG00000093010; HPRD:00284; MIM:116790; Vega:OTTHUMG00000150529
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]
Orthologs
See COMT in MapViewer
Location:
22q11.21
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (19941740..19969975)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19929263..19957498)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene thioredoxin reductase 2 Neighboring gene ribosomal protein L8 pseudogene 5 Neighboring gene uncharacterized LOC105377185 Neighboring gene microRNA 4761 Neighboring gene armadillo repeat gene deleted in velocardiofacial syndrome Neighboring gene transport and golgi organization 2 homolog (Drosophila) Neighboring gene microRNA 185 Neighboring gene microRNA 3618 Neighboring gene DGCR8 microprocessor complex subunit

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
O-methyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
catechol O-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to phosphate starvation IEA
Inferred from Electronic Annotation
more info
 
developmental process IEA
Inferred from Electronic Annotation
more info
 
dopamine catabolic process IEA
Inferred from Electronic Annotation
more info
 
estrogen metabolic process IEA
Inferred from Electronic Annotation
more info
 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
learning IEA
Inferred from Electronic Annotation
more info
 
methylation TAS
Traceable Author Statement
more info
 
multicellular organismal reproductive process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of dopamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of renal sodium excretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter biosynthetic process TAS
Traceable Author Statement
more info
 
neurotransmitter catabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of homocysteine metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
response to pain IEA
Inferred from Electronic Annotation
more info
 
short-term memory IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
cell body IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
catechol O-methyltransferase
Names
catechol O-methyltransferase
epididymis secretory sperm binding protein Li 98n
NP_000745.1
NP_001128633.1
NP_001128634.1
NP_009294.1

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_011526.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000754.3NP_000745.1  catechol O-methyltransferase isoform MB-COMT

    See proteins identical to NP_000745.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as MB-COMT) represents the longest transcript and encodes the longer isoform (MB-COMT). Variants 1, 2, and 3 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
    Related
    ENSP00000354511, OTTHUMP00000197846, ENST00000361682, OTTHUMT00000318936
    Conserved Domains (1) summary
    cd02440
    Location:112217
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  2. NM_001135161.1NP_001128633.1  catechol O-methyltransferase isoform MB-COMT

    See proteins identical to NP_001128633.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 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
    Conserved Domains (1) summary
    cd02440
    Location:112217
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  3. NM_001135162.1NP_001128634.1  catechol O-methyltransferase isoform MB-COMT

    See proteins identical to NP_001128634.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 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
    Conserved Domains (1) summary
    cd02440
    Location:112217
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  4. NM_007310.2NP_009294.1  catechol O-methyltransferase isoform S-COMT

    See proteins identical to 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
    Conserved Domains (1) summary
    cd02440
    Location:62167
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

    Range
    19941740..19969975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529887.1XP_011528189.1  

    See proteins identical to XP_011528189.1

    Conserved Domains (1) summary
    cd02440
    Location:112197
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  2. XM_011529890.1XP_011528192.1  

    See proteins identical to XP_011528192.1

    Conserved Domains (1) summary
    cd02440
    Location:112197
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  3. XM_011529891.1XP_011528193.1  

    See proteins identical to XP_011528193.1

    Conserved Domains (1) summary
    cd02440
    Location:112197
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  4. XM_011529889.1XP_011528191.1  

    See proteins identical to XP_011528191.1

    Conserved Domains (1) summary
    cd02440
    Location:112197
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  5. XM_011529888.1XP_011528190.1  

    See proteins identical to XP_011528190.1

    Conserved Domains (1) summary
    cd02440
    Location:112197
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  6. XM_011529886.1XP_011528188.1  

    Related
    ENSP00000385150, OTTHUMP00000197748, ENST00000406520, OTTHUMT00000318770
    Conserved Domains (1) summary
    cd02440
    Location:150255
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  7. XM_011529885.1XP_011528187.1  

    Conserved Domains (1) summary
    cd02440
    Location:150235
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    19929027..19957208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)