Reactome | ub-SHH(24-462) P377S [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:5387350] Rothfels, Karen, 2014-04-29
dbId	5387351
disease	[Disease:5358398] holoprosencephaly
displayName	ub-SHH(24-462) P377S [endoplasmic reticulum lumen]
endCoordinate	462
hasModifiedResidue	[ReplacedResidue:5358406] L-proline 377 replaced with L-serine [ModifiedResidue:5362348] ubiquitinylated lysine at unknown position
inDisease	true
literatureReference	[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
name	ub-SHH(24-462) P377S Sonic hedgehog protein precursor SHH SHH_HUMAN
referenceEntity	[ReferenceGeneProduct:64432] UniProt:Q15465 SHH
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5387351
startCoordinate	24

(hasCandidate)

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