Reactome | ALG6 S478P [endoplasmic reticulum membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:12045] endoplasmic reticulum membrane
created	[InstanceEdit:4724288] Jassal, B, 2013-10-23
crossReference	[DatabaseIdentifier:12020873] Mondo:0005500
dbId	4724296
disease	[Disease:3781892] congenital disorder of glycosylation type I
displayName	ALG6 S478P [endoplasmic reticulum membrane]
endCoordinate	507
hasModifiedResidue	[ReplacedResidue:4724293] L-alanine 333 replaced with L-valine [ReplacedResidue:4724299] L-serine 478 replaced with L-proline
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-4724300] ALG6 mutants [endoplasmic reticulum membrane] - Homo sapiens
modified	[InstanceEdit:5649739] Jassal, Bijay, 2014-11-21
name	ALG6 S478P Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase ALG6_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:Q9Y672] UniProt:Q9Y672 ALG6
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-4724296
startCoordinate	1
updateTrackers	[UpdateTracker:9889796] Update Tracker - [EntityWithAccessionedSequence:4724296] ALG6 S478P [endoplasmic reticulum membrane] - v52:[addDisease]

(updatedInstance)	[UpdateTracker:9889796] Update Tracker - [EntityWithAccessionedSequence:4724296] ALG6 S478P [endoplasmic reticulum membrane] - v52:[addDisease]
(hasMember)	[DefinedSet:R-HSA-4724300] ALG6 mutants [endoplasmic reticulum membrane]

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