Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

HGSNAT R344C [lysosomal membrane] Show undefined attributes

compartment

[Compartment:17938] lysosomal membrane

created [InstanceEdit:2245234] Jassal, B, 2012年05月11日

crossReference

[DatabaseIdentifier:11945072] Mondo:0019249

dbId 2245233

disease

[Disease:2226052] mucopolysaccharidosis

displayName HGSNAT R344C [lysosomal membrane]

endCoordinate 663

hasModifiedResidue

[ReplacedResidue:2245237] L-arginine 344 replaced with L-cysteine

inDisease true

maxDepth 1

memberOf

[DefinedSet:R-HSA-2245239] HGSNAT mutants [lysosomal membrane] - Homo sapiens

modified [InstanceEdit:5649493] Jassal, Bijay, 2014年11月20日

name

HGSNAT R344C
Heparan-alpha-glucosaminide N-acetyltransferase
HGNAT_HUMAN
p.Arg344Cys HGSNAT mutant

referenceEntity [ReferenceGeneProduct:uniprot:Q68CP4] UniProt:Q68CP4 HGSNAT

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-2245233

startCoordinate 1

updateTrackers

Referrals

(updatedInstance)

(hasMember)

[DefinedSet:R-HSA-2245239] HGSNAT mutants [lysosomal membrane]

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