Reactome | Defective CYP1B1 does not 4-hydroxylate EST17b

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Defective CYP1B1 does not 4-hydroxylate EST17b Show undefined attributes

authored	[InstanceEdit:5605177] Jassal, Bijay, 2014-07-04
catalystActivity	[CatalystActivity:9631793] monooxygenase activity of CYP1B1 mutants [endoplasmic reticulum membrane]
category	transition
compartment	[Compartment:12045] endoplasmic reticulum membrane [Compartment:70101] cytosol
created	[InstanceEdit:5605177] Jassal, Bijay, 2014-07-04
crossReference	[DatabaseIdentifier:12020872] Mondo:0000365
dbId	5605147
disease	[Disease:5605140] primary congenital glaucoma [Disease:5605141] primary open angle glaucoma [Disease:5605152] glaucoma [Disease:5605157] open-angle glaucoma
displayName	Defective CYP1B1 does not 4-hydroxylate EST17b
edited	[InstanceEdit:5605177] Jassal, Bijay, 2014-07-04
entityFunctionalStatus	[EntityFunctionalStatus:5605121] loss_of_function of CYP1B1 mutants [endoplasmic reticulum membrane]
eventOf	[Pathway:R-HSA-5579000] Defective CYP1B1 causes Glaucoma - Homo sapiens
input	[SimpleEntity:R-ALL-193132] EST17b [cytosol] [SimpleEntity:R-ALL-70106] H+ [cytosol] [SimpleEntity:R-ALL-29364] NADPH [cytosol] [SimpleEntity:R-ALL-29368] O2 [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:211856] Role of human cytochrome P450 1A1, 1A2, 1B1, and 3A4 in the 2-, 4-, and 16alpha-hydroxylation of 17beta-estradiol [LiteratureReference:5605156] Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma [LiteratureReference:5605179] Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia [LiteratureReference:5605168] Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene [LiteratureReference:5605144] Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma [LiteratureReference:5605153] Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective CYP1B1 does not 4-hydroxylate EST17b
normalReaction	[Reaction:R-HSA-211951] CYP1B1 4-hydroxylates EST17b
releaseDate	2014-12-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5605147
summation	[Summation:5605161] Cytochrome P450 1B1 (CYP1B1) can oxidise a variety of struct...
systematicName	CYP1B1 mutants do not hydroxylate EST17b
updateTrackers	[UpdateTracker:9778355] Update Tracker - [FailedReaction:5605147] Defective CYP1B1 does not 4-hydroxylate EST17b - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778355] Update Tracker - [FailedReaction:5605147] Defective CYP1B1 does not 4-hydroxylate EST17b - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5579000] Defective CYP1B1 causes Glaucoma

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