Reactome | CPS1 D914H [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9955409] Rothfels, Karen, 2025-06-10
crossReference	[DatabaseIdentifier:12020905] Mondo:0009376
dbId	9955400
disease	[Disease:9955434] carbamoyl phosphate synthetase I deficiency disease
displayName	CPS1 D914H [mitochondrial matrix]
endCoordinate	1500
hasModifiedResidue	[ReplacedResidue:9955341] L-aspartic acid 914 replaced with L-histidine
inDisease	true
literatureReference	[LiteratureReference:9955120] Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function [LiteratureReference:9955071] Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations
maxDepth	1
memberOf	[CandidateSet:R-HSA-9955380] integrating domain variants of CPS1 [mitochondrial matrix] - Homo sapiens
name	CPS1 D914H carbamoyl-phosphate synthetase I carbamoyl-phosphate synthase (ammonia), mitochondrial CPSase I
referenceEntity	[ReferenceGeneProduct:uniprot:P31327] UniProt:P31327 CPS1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9955400
startCoordinate	39

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