Literature summary for 3.1.1.1 extracted from

Zhu, H.J.; Patrick, K.S.; Yuan, H.J.; Wang, J.S.; Donovan, J.L.; DeVane, C.L.; Malcolm, R.; Johnson, J.A.; Youngblood, G.L.; Sweet, D.H.; Langaee, T.Y.; Markowitz, J.S.
Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis (2008), Am. J. Hum. Genet., 82, 1241-1248.

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Cloned(Commentary)

Cloned (Comment)	Organism
expressed in Flp-In-293 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G143E	the mutation leads to dysfunctional carboxylesterase 1 activity (complete loss of activity toward methylphenidate and 21.4% of wild type activity with 4-nitrophenyl acetate)	Homo sapiens
additional information	the frameshift mutation D260fs (altering residues 260-299 before truncating at a premature stop codon) leads to dysfunctional carboxylesterase 1 activity (complete loss of activity toward methylphenidate and 0.6% of wild type activity with 4-nitrophenyl acetate)	Homo sapiens

KM Value [mM]

KM Value [mM]	KM Value Maximum [mM]	Substrate	Comment	Organism	Structure
0.0932	-	4-nitrophenyl acetate	mutant enzyme G143E	Homo sapiens
0.1066	-	4-nitrophenyl acetate	wild type enzyme	Homo sapiens
0.6635	-	D-methyl phenidate	wild type enzyme	Homo sapiens
0.7757	-	L-methyl phenidate	wild type enzyme	Homo sapiens
0.9504	-	4-nitrophenyl acetate	frameshift mutant enzyme D260fs	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P23141	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
4-nitrophenyl acetate + H2O	-	Homo sapiens	4-nitrophenol + acetate	-	?
D-methyl phenidate + H2O	-	Homo sapiens	?	-	?
L-methyl phenidate + H2O	-	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
carboxylesterase 1	-	Homo sapiens
CES1	-	Homo sapiens

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Release 2023.1 (January 2023)