Reactome | ub-SHH variants [cytosol]

Schema > CandidateSet > Entries

compartment	[Compartment:70101] cytosol
consumedByEvent	[BlackBoxEvent:R-HSA-5387392] processing defective Hh variants are degraded by the proteasome - Homo sapiens
created	[InstanceEdit:5387367] Rothfels, Karen, 2014-04-29
crossReference	[DatabaseIdentifier:12020839] Mondo:0016296
dbId	5387369
disease	[Disease:5358398] holoprosencephaly
displayName	ub-SHH variants [cytosol]
hasCandidate	[CandidateSet:R-HSA-5387370] ub SRR SHH variants [cytosol] - Homo sapiens [CandidateSet:R-HSA-5387368] ub cholesterol site variants of SHH [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5387361] ub SHH(24-462) W117G [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5387353] ub SHH(24-462) W117R [cytosol] - Homo sapiens
hasMember	[EntityWithAccessionedSequence:R-HSA-5387354] ub SHH(24-462) C198S [cytosol] - Homo sapiens
inDisease	true
maxDepth	3
name	ub-SHH variants
producedByEvent	[Reaction:R-HSA-5387389] Hh processing variants are translocated to the cytosol in a VCP-dependent manner - Homo sapiens
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-5387369

(output)	[Reaction:R-HSA-5387389] Hh processing variants are translocated to the cytosol in a VCP-dependent manner
(input)	[BlackBoxEvent:R-HSA-5387392] processing defective Hh variants are degraded by the proteasome
(diseaseEntity)	[EntityFunctionalStatus:9630079] gain_of_function of ub-SHH variants [cytosol]