Reactome | SLC17A8 A211V [synaptic vesicle membrane]

Schema > EntityWithAccessionedSequence > Entries

catalystActivities	[CatalystActivity:9631755] L-glutamate transmembrane transporter activity of SLC17A8 A211V [synaptic vesicle membrane]
compartment	[Compartment:201753] synaptic vesicle membrane
created	[InstanceEdit:5624287] Jassal, Bijay, 2014-09-22
crossReference	[DatabaseIdentifier:12021014] Mondo:0019587
dbId	5624277
disease	[Disease:5624283] autosomal dominant nonsyndromic deafness
displayName	SLC17A8 A211V [synaptic vesicle membrane]
endCoordinate	589
hasModifiedResidue	[ReplacedResidue:5624279] L-alanine 211 replaced with L-valine
inDisease	true
maxDepth	1
name	SLC17A8 A211V Vesicular glutamate transporter 3 VGLU3_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:Q8NDX2] UniProt:Q8NDX2 SLC17A8
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5624277
startCoordinate	1

(diseaseEntity)	[EntityFunctionalStatus:5624245] loss_of_function of SLC17A8 A211V [synaptic vesicle membrane]
(physicalEntity)	[CatalystActivity:9631755] L-glutamate transmembrane transporter activity of SLC17A8 A211V [synaptic vesicle membrane]

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