Reactome | SLC2A1 K456* [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:5632829] Jassal, Bijay, 2014-10-29
crossReference	[DatabaseIdentifier:12020999] Mondo:0800491
dbId	5632827
disease	[Disease:5632824] early infantile epileptic encephalopathy
displayName	SLC2A1 K456* [plasma membrane]
endCoordinate	492
hasModifiedResidue	[NonsenseMutation:5632799] Nonsense mutation at L-lysine 456
inDisease	true
literatureReference	[LiteratureReference:70157] Mammalian facilitative glucose transporter family: structure and molecular regulation [LiteratureReference:70141] Structural analysis of the GLUT1 facilitative glucose transporter (review).
maxDepth	1
memberOf	[DefinedSet:R-HSA-5632862] SLC2A1 mutants [plasma membrane] - Homo sapiens
name	SLC2A1 K456* GLUT1 Solute carrier family 2, facilitated glucose transporter, member 1 Glucose transporter type 1, erythrocyte/brain HepG2 glucose transporter
referenceEntity	[ReferenceGeneProduct:uniprot:P11166] UniProt:P11166 SLC2A1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5632827
startCoordinate	1

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