Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

CHSY1 E33Sfs*2 [Golgi membrane] Show undefined attributes

compartment

[Compartment:20699] Golgi membrane

created [InstanceEdit:3636794] Jassal, B, 2013年05月29日

crossReference

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年03月24日

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]

Referrals

(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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