Reactome | HPE SHH variants don't undergo autoproteolytic cleavage

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HPE SHH variants don't undergo autoproteolytic cleavage Show undefined attributes

authored	[InstanceEdit:5358350] Rothfels, Karen, 2014-03-27
catalystActivity	[CatalystActivity:9608411] endopeptidase activity of SHH variants [endoplasmic reticulum lumen]
category	transition
compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:5358461] Rothfels, Karen, 2014-03-28
dbId	5358460
disease	[Disease:5358398] holoprosencephaly
displayName	HPE SHH variants don't undergo autoproteolytic cleavage
edited	[InstanceEdit:5490367] D'Eustachio, Peter, 2014-05-19
entityFunctionalStatus	[EntityFunctionalStatus:5358457] loss_of_function of SHH variants [endoplasmic reticulum lumen]
eventOf	[Pathway:R-HSA-5362768] Hh mutants are degraded by ERAD - Homo sapiens
input	[SimpleEntity:R-ALL-174672] CHOL [endoplasmic reticulum lumen] [CandidateSet:R-HSA-5358456] SHH variants [endoplasmic reticulum lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5487043] Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly [LiteratureReference:5358454] The molecular genetics of holoprosencephaly [LiteratureReference:5358217] Functional characterization of sonic hedgehog mutations associated with holoprosencephaly [LiteratureReference:5358236] Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly [LiteratureReference:5358247] The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis [LiteratureReference:5358239] Processing and turnover of the Hedgehog protein in the endoplasmic reticulum [LiteratureReference:5359146] Derlin2 protein facilitates HRD1-mediated retro-translocation of sonic hedgehog at the endoplasmic reticulum
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	HPE SHH variants don't undergo autoproteolytic cleavage
normalReaction	[Reaction:R-HSA-5358340] Autoproteolytic cleavage of Hh precursors
releaseDate	2014-06-10
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5483156] Liu, Yulu Cherry, 2014-05-16
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5358460
summation	[Summation:5358459] Holoprosencephaly (HPE) is a congenital brain disorder that ...

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(hasEvent)

[Pathway:R-HSA-5362768] Hh mutants are degraded by ERAD