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

Gene ID: 1312, updated on 18-Jan-2020

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

Genomic context

See COMT in Genome Data Viewer
Location:
22q11.21
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19941772..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 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
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

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
L-dopa O-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
O-methyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
catechol O-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
catechol O-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
catechol O-methyltransferase activity TAS
Traceable Author Statement
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
methyltransferase activity TAS
Traceable Author Statement
more info
 
orcinol O-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
catecholamine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
catecholamine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to phosphate starvation IEA
Inferred from Electronic Annotation
more info
 
developmental process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dopamine catabolic process IEA
Inferred from Electronic Annotation
more info
 
dopamine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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 estrogen 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
 
Component Evidence Code Pubs
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell body IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
catechol O-methyltransferase
Names
catechol-O-methyltransferase isoform
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)

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, ENST00000361682.10
    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 109.20191205

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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