Reactome | CYP2U1 D316V [endoplasmic reticulum membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:12045] endoplasmic reticulum membrane
created	[InstanceEdit:5602246] Jassal, Bijay, 2014-06-20
crossReference	[DatabaseIdentifier:12020860] Mondo:0019064
dbId	5602217
disease	[Disease:5602229] hereditary spastic paraplegia
displayName	CYP2U1 D316V [endoplasmic reticulum membrane]
endCoordinate	544
hasModifiedResidue	[ReplacedResidue:5602257] L-aspartic acid 316 replaced with L-valine
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-5602201] CYP2U1 mutants [endoplasmic reticulum membrane] - Homo sapiens
name	CYP2U1 D316V Cytochrome P450 2U1 CP2U1_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:Q7Z449] UniProt:Q7Z449 CYP2U1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5602217
startCoordinate	1

(hasMember)

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