Literature summary for 3.1.1.47 extracted from

Ishihara, M.; Iwasaki, T.; Nagano, M.; Ishii, J.; Takano, M.; Kujiraoka, T.; Tsuji, M.; Hattori, H.; Emi, M.
Functional impairment of two novel mutations detected in lipoprotein-associated phospholipase A2 (Lp-PLA2) deficiency patients (2004), J. Hum. Genet., 49, 302-307.

Search for more literature for 3.1.1.47

Cloned(Commentary)

Cloned (Comment)	Organism
expression of mutant proteins in COS-7 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
I317N	naturally occurring mutation, creation of a new N-linked glycosylation site, enzyme is not expressed in transfected COS-7 cells	Homo sapiens
additional information	naturally occurring mutation, insertion of adenine at nucleotide 191 results in the creation of a stop codon at position 63 and hence in a truncated protein	Homo sapiens
Q281R	reduced enzyme expression and activity when expressed in transfected COS-7 cells	Homo sapiens
V279F	naturally occurring mutation, no enzyme detected in homozygous subjects, half of normal enzyme level detected in heterozygous subjects, enzyme is not expressed in transfected COS-7 cells	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
extracellular	most circulating protein is bound to low-density lipoprotein, the rest is bound to high-density lipoprotein	Homo sapiens	-	-
additional information	expressed in and secreted by macrophages and monocytes	Homo sapiens	-	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
phospholipids + H2O	Homo sapiens	hydrolyzes sn-2-ester bonds of fragmented or oxidized phospholipids, enzyme deficiency results in an increased risk of stroke, coronary artery disease, atherosclerotic occlusive disease, and abdominal aortic aneurysm	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Japanese patients with complete or partial platelet-activating factor acetylhydrolase deficiency	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
phospholipids + H2O	hydrolyzes sn-2-ester bonds of fragmented or oxidized phospholipids, enzyme deficiency results in an increased risk of stroke, coronary artery disease, atherosclerotic occlusive disease, and abdominal aortic aneurysm	Homo sapiens	?	-	?
phospholipids + H2O	hydrolyzes sn-2-ester bonds of fragmented or oxidized phospholipids	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
Lp-PLA2	-	Homo sapiens
PAF-AH	-	Homo sapiens
plasma lipoprotein-associated phospholipase A2	-	Homo sapiens
platelet-activating factor acetylhydrolase	-	Homo sapiens

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Release 2023.1 (January 2023)