Reactome | CHSY1 E33Sfs*2 [Golgi membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:20699] Golgi membrane
created	[InstanceEdit:3636794] Jassal, B, 2013-05-29
crossReference	[DatabaseIdentifier:12020895] Mondo:0021004 [DatabaseIdentifier:9831773] ClinVar:VCV000030715
dbId	3636864
disease	[Disease:3656246] brachydactyly
displayName	CHSY1 E33Sfs*2 [Golgi membrane]
endCoordinate	33
hasModifiedResidue	[FragmentReplacedModification:3636866] Replacement of residues 33 to 33 by S
inDisease	true
literatureReference	[LiteratureReference:1971434] Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling
maxDepth	1
memberOf	[DefinedSet:R-HSA-3636795] CHSY1 mutants [Golgi membrane] - Homo sapiens
modified	[InstanceEdit:9831777] Orlic-Milacic, Marija, 2023-03-24
name	CHSY1 E33Sfs*2 Chondroitin sulfate synthase 1 CHSS1_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:Q86X52] UniProt:Q86X52 CHSY1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-3636864
startCoordinate	1
updateTrackers	[UpdateTracker:9905272] Update Tracker - [EntityWithAccessionedSequence:3636864] CHSY1 E33Sfs*2 [Golgi membrane] - v85:[addLiteratureReference, modifyName]

(updatedInstance)	[UpdateTracker:9905272] Update Tracker - [EntityWithAccessionedSequence:3636864] CHSY1 E33Sfs*2 [Golgi membrane] - v85:[addLiteratureReference, modifyName]
(hasMember)	[DefinedSet:R-HSA-3636795] CHSY1 mutants [Golgi membrane]

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