Literature summary for 3.1.2.22 extracted from

Das, A.K.; Lu, J.Y.; Hofmann, S.L.
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis (2001), Hum. Mol. Genet., 10, 1431-1439.

Search for more literature for 3.1.2.22

Cloned(Commentary)

Cloned (Comment)	Organism
expression of wild-type and enzymes with naturally occurring mutations in COS cells as His-tagged enzyme, and in Sf9 cells, the latter via baculovirus infection	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
D79G	naturally occurring mutation, recombinant enzyme shows 32.8% of the wild-type activity, mutation is associated with the juvenile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor	Homo sapiens
E184K	naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor	Homo sapiens
G250V	naturally occurring mutation, recombinant enzyme shows 5.9% of the wild-type activity, mutation is associated with the juvenile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor	Homo sapiens
G42E	naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor	Homo sapiens
H39Q	naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor	Homo sapiens
additional information	several naturally occurring mutations of alleles 1 and 2 from enzyme deficient patients shows reduced activity compred with the wild-type, overview	Homo sapiens
Q177E	naturally occurring mutation, recombinant enzyme shows 7.3% of the wild-type activity, mutation is associated with the late infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor	Homo sapiens
R122W	naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor, accumulation of the recombinant mutant enzyme in the endoplamic reticulum due to decreased degradation turnover	Homo sapiens
T75P	naturally occurring mutation, recombinant enzyme shows 6.8% of the wild-type activity, mutation is associated with the juvenile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor	Homo sapiens
V181M	naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor	Homo sapiens
Y109D	naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with an unclassified form of neuronal ceroid lipofuscinosis	Homo sapiens
Y247H	naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with an unclassified form of neuronal ceroid lipofuscinosis	Homo sapiens

KM Value [mM]

KM Value [mM]	KM Value Maximum [mM]	Substrate	Comment	Organism	Structure
0.039	-	palmitoyl-CoA	-	Homo sapiens
0.227	-	palmitoyl[beta-D-thioglucoside	-	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
lysosome	the glycoslated enzyme is recognized by the mannose 6-phosphate receptor and routed to the lysosome	Homo sapiens	5764	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	enzyme deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, INCL	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Posttranslational Modification

Posttranslational Modification	Comment	Organism
glycoprotein	-	Homo sapiens

Reaction

Reaction	Comment	Organism	Reaction ID
palmitoyl[protein] + H2O = palmitate + protein	specific for long-chain thioesters of fatty acids from S-acylated residues in proteins, palmitoyl cysteine and palmitoyl-CoA	Homo sapiens	a

Source Tissue

Source Tissue	Comment	Organism	Textmining

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg]	Specific Activity Maximum [µmol/min/mg]	Comment	Organism
1.72	-	whole cell, wild-type enzyme, substrate palmitoyl-CoA	Homo sapiens
7.49	-	whole cell, wild-type enzyme, substrate S-palmitoyl-beta-glucoside	Homo sapiens

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	enzyme deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, INCL	Homo sapiens	?	-	?
palmitoyl-CoA + H2O	-	Homo sapiens	palmitate + CoA	-	?
palmitoyl-[protein] + H2O	-	Homo sapiens	palmitate + protein	-	?
palmitoylthio-beta-glucoside + H2O	-	Homo sapiens	palmitate + thio-beta-glucoside	-	?
palmitoyl[beta-D-thioglucoside] + H2O	-	Homo sapiens	palmitate + 1-thio-beta-D-glucopyranose	-	?

Synonyms

Synonyms	Comment	Organism
Palmitoyl-protein thioesterase	-	Homo sapiens

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Release 2023.1 (January 2023)