Reactome | DPAGT1 T234Hfs*116 [endoplasmic reticulum membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:12045] endoplasmic reticulum membrane
created	[InstanceEdit:4549381] Jassal, B, 2013-09-12
crossReference	[DatabaseIdentifier:12020873] Mondo:0005500
dbId	4549354
disease	[Disease:3781892] congenital disorder of glycosylation type I
displayName	DPAGT1 T234Hfs*116 [endoplasmic reticulum membrane]
endCoordinate	408
hasModifiedResidue	[FragmentReplacedModification:4549344] Replacement of residues 234 to 348 by HHFGIALPQLVPITGVCGRYLLLLCWHDLCRGGHLGTLQQDHATILHAPGVQLPLLTASAPAYHPLPSPPHTQTQYQDRQTGDELFQVQDQEPLFLGHLYFKGGREPPAGDSTPE
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-4549346] DPAGT1 mutants [endoplasmic reticulum membrane] - Homo sapiens
modified	[InstanceEdit:5649739] Jassal, Bijay, 2014-11-21
name	DPAGT1 T234Hfs*116 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase GPT_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:Q9H3H5] UniProt:Q9H3H5 DPAGT1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-4549354
startCoordinate	1
updateTrackers	[UpdateTracker:9889996] Update Tracker - [EntityWithAccessionedSequence:4549354] DPAGT1 T234Hfs*116 [endoplasmic reticulum membrane] - v52:[addDisease]

(updatedInstance)	[UpdateTracker:9889996] Update Tracker - [EntityWithAccessionedSequence:4549354] DPAGT1 T234Hfs*116 [endoplasmic reticulum membrane] - v52:[addDisease]
(hasMember)	[DefinedSet:R-HSA-4549346] DPAGT1 mutants [endoplasmic reticulum membrane]

Cite Us!