Reactome | PUS1-1 [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

catalystActivities	[CatalystActivity:6787588] pseudouridine synthase activity of PUS1-1 [mitochondrial matrix]
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:6787554] May, Bruce, 2015-07-14
dbId	6787555
displayName	PUS1-1 [mitochondrial matrix]
endCoordinate	427
inDisease	false
literatureReference	[LiteratureReference:6782365] Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
maxDepth	1
name	PUS1-1 tRNA pseudouridine synthase A, mitochondrial ecNumber5.4.99.12/ecNumber TRUA_HUMAN
referenceEntity	[ReferenceIsoform:uniprot:Q9Y606-1] UniProt:Q9Y606-1 PUS1
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-6787555

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