Reactome | Hh mutants are degraded by ERAD

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Hh mutants are degraded by ERAD Show undefined attributes

authored	[InstanceEdit:5362556] Rothfels, Karen, 2014-04-16
created	[InstanceEdit:5362769] Rothfels, Karen, 2014-04-17
crossReference	[DatabaseIdentifier:12020840] Mondo:0010765
dbId	5362768
disease	[Disease:5358398] holoprosencephaly [Disease:5483113] 46 XY gonadal dysgenesis
displayName	Hh mutants are degraded by ERAD
edited	[InstanceEdit:5490367] D'Eustachio, Peter, 2014-05-19
eventOf	[Pathway:R-HSA-5387390] Hh mutants abrogate ligand secretion - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5358460] HPE SHH variants don't undergo autoproteolytic cleavage - Homo sapiens [Reaction:R-HSA-5362450] Hh processing variants bind lectins - Homo sapiens [Reaction:R-HSA-5387386] Hh processing variants are recruited to SEL1:SYVN at the ER membrane - Homo sapiens [Reaction:R-HSA-5483238] Hh processing variants are ubiquitinated - Homo sapiens [Reaction:R-HSA-5387389] Hh processing variants are translocated to the cytosol in a VCP-dependent manner - Homo sapiens [BlackBoxEvent:R-HSA-5387392] processing defective Hh variants are degraded by the proteasome - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2018-06-13
literatureReference	[LiteratureReference:5358454] The molecular genetics of 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:5358208] A review of hedgehog signaling in cranial bone development
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Hh mutants are degraded by ERAD
normalPathway	[Pathway:R-HSA-5358346] Hedgehog ligand biogenesis
releaseDate	2014-06-10
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5483156] Liu, Yulu Cherry, 2014-05-16
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5362768
summation	[Summation:5658049] Hh signaling is required for a number of developmental proce...
updateTrackers	[UpdateTracker:9779677] Update Tracker - [Pathway:5362768] Hh mutants are degraded by ERAD - v65:[updateContainedRLE] [UpdateTracker:9784880] Update Tracker - [Pathway:5362768] Hh mutants are degraded by ERAD - v52:[add_removeSummation, removeHasEvent, removeLiteratureReference, updateContainedRLE]

Referrals

(updatedInstance)	[UpdateTracker:9779677] Update Tracker - [Pathway:5362768] Hh mutants are degraded by ERAD - v65:[updateContainedRLE] [UpdateTracker:9784880] Update Tracker - [Pathway:5362768] Hh mutants are degraded by ERAD - v52:[add_removeSummation, removeHasEvent, removeLiteratureReference, updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5387390] Hh mutants abrogate ligand secretion