Reactome | NHLRC1 F33S [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:3797222] D'Eustachio, P, 2013-07-05
crossReference	[DatabaseIdentifier:12020930] Mondo:0002412
dbId	3797218
disease	[Disease:3229130] glycogen storage disease
displayName	NHLRC1 F33S [cytosol]
endCoordinate	395
hasModifiedResidue	[ReplacedResidue:3797227] L-phenylalanine 33 replaced with L-serine
inDisease	true
literatureReference	[LiteratureReference:3797223] Mutations in NHLRC1 cause progressive myoclonus epilepsy
maxDepth	1
memberOf	[DefinedSet:R-HSA-3797212] NHLRC1 mutants [cytosol] - Homo sapiens
modified	[InstanceEdit:3828059] D'Eustachio, P, 2013-07-09
name	NHLRC1 F33S E3 ubiquitin-protein ligase NHLRC1 F33S malin F33S EMP2B F33S
referenceEntity	[ReferenceGeneProduct:uniprot:Q6VVB1] UniProt:Q6VVB1 NHLRC1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-3797218
startCoordinate	1

(hasMember)

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