|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:alternativeTranscript
|
membrane-bound COMT
soluble COMT
|
|
gptkbp:associatedWith
|
gptkb:Parkinson's_disease
gptkb:depression
gptkb:22q11.2_deletion_syndrome
bipolar disorder
schizophrenia
cognitive function
anxiety disorders
pain sensitivity
|
|
gptkbp:biologicalProcess
|
O-methyltransferase activity
catecholamine catabolic process
|
|
gptkbp:cellularComponent
|
gptkb:cell_membrane
gptkb:cytoplasm
|
|
gptkbp:discoveredBy
|
gptkb:Julius_Axelrod
|
|
gptkbp:discoveredIn
|
1958
|
|
gptkbp:encodes
|
catechol-O-methyltransferase
|
|
gptkbp:Entrez_Gene_ID
|
1312
ENSG00000093010
|
|
gptkbp:enzymeCommissionNumber
|
2.1.1.6
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
liver
red blood cells
|
|
gptkbp:fullName
|
catechol-O-methyltransferase gene
|
|
gptkbp:function
|
degradation of dopamine
degradation of epinephrine
degradation of norepinephrine
methylation of catecholamines
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPolymorphism
|
Val158Met
|
|
gptkbp:HGNC_ID
|
2228
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COMT gene
|
|
gptkbp:length
|
271 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:22q11.21
|
|
gptkbp:mutationAssociatedWith
|
can cause COMT deficiency
|
|
gptkbp:OMIM
|
116790
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
mouse Comt gene
rat Comt gene
|
|
gptkbp:pathway
|
drug metabolism
catecholamine metabolism
dopamine degradation pathway
|
|
gptkbp:product
|
gptkb:enzyme
|
|
gptkbp:target
|
gptkb:entacapone
gptkb:tolcapone
opicapone
|
|
gptkbp:UniProtID
|
gptkb:P21964
|
|
gptkbp:Val158Met
|
rs4680
|
|
gptkbp:Val158Met_effect
|
affects dopamine levels
alters enzyme activity
|
|
gptkbp:bfsParent
|
gptkb:catechol-O-methyl_transferase
|
|
gptkbp:bfsLayer
|
7
|