Reactome | CPS1 T544M [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9955409] Rothfels, Karen, 2025-06-10
crossReference	[DatabaseIdentifier:12020905] Mondo:0009376
dbId	9955376
disease	[Disease:9955434] carbamoyl phosphate synthetase I deficiency disease
displayName	CPS1 T544M [mitochondrial matrix]
endCoordinate	1500
hasModifiedResidue	[ReplacedResidue:9955336] L-threonine 544 replaced with L-methionine
inDisease	true
literatureReference	[LiteratureReference:9955059] Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool [LiteratureReference:9955071] Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations [LiteratureReference:9955087] Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1
maxDepth	1
memberOf	[CandidateSet:R-HSA-9955423] bicarbonate phosphorylation domain variants of CPS1 [mitochondrial matrix] - Homo sapiens
name	CPS1 T544M 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-9955376
startCoordinate	39

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