Reactome | SGSH C1091del [lysosomal lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:161320] lysosomal lumen
created	[InstanceEdit:2214338] Jassal, B, 2012-04-30
crossReference	[DatabaseIdentifier:12020937] Mondo:0018937
dbId	2214344
disease	[Disease:2226064] mucopolysaccharidosis III
displayName	SGSH C1091del [lysosomal lumen]
endCoordinate	502
hasModifiedResidue	[FragmentDeletionModification:9626685] Deletion of residues 1091 to 1091
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-2214337] SGSH mutants [lysosomal lumen] - Homo sapiens
modified	[InstanceEdit:9626683] Jassal, Bijay, 2018-10-29
name	SGSH C1091del N-sulphoglucosamine sulphohydrolase SPHM_HUMAN p.Cys1091del SGSH
referenceEntity	[ReferenceGeneProduct:uniprot:P51688] UniProt:P51688 SGSH
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2214344
startCoordinate	21
updateTrackers	[UpdateTracker:9874499] Update Tracker - [EntityWithAccessionedSequence:2214344] SGSH C1091del [lysosomal lumen] - v43:[modifyName] [UpdateTracker:9887658] Update Tracker - [EntityWithAccessionedSequence:2214344] SGSH C1091del [lysosomal lumen] - v46:[modifyName] [UpdateTracker:9899792] Update Tracker - [EntityWithAccessionedSequence:2214344] SGSH C1091del [lysosomal lumen] - v67:[add_removeHasModifiedResidue]

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