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Literature summary 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.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
3.1.2.22 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

EC Number Protein Variants Comment Organism
3.1.2.22 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
3.1.2.22 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
3.1.2.22 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
3.1.2.22 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
3.1.2.22 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
3.1.2.22 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
3.1.2.22 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
3.1.2.22 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
3.1.2.22 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
3.1.2.22 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
3.1.2.22 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
3.1.2.22 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]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
3.1.2.22 0.039
-
 palmitoyl-CoA
-
 Homo sapiens
3.1.2.22 0.227
-
 palmitoyl[beta-D-thioglucoside
-
 Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

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

Organism

EC Number Organism UniProt Comment Textmining
3.1.2.22 Homo sapiens
-
-
-

Posttranslational Modification

EC Number Posttranslational Modification Comment Organism
3.1.2.22 glycoprotein
-
 Homo sapiens

Reaction

EC Number Reaction Comment Organism Reaction ID
3.1.2.22 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

EC Number Source Tissue Comment Organism Textmining

Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
3.1.2.22 1.72
-
 whole cell, wild-type enzyme, substrate palmitoyl-CoA Homo sapiens
3.1.2.22 7.49
-
 whole cell, wild-type enzyme, substrate S-palmitoyl-beta-glucoside Homo sapiens

Substrates and Products (Substrate)

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

Synonyms

EC Number Synonyms Comment Organism
3.1.2.22 Palmitoyl-protein thioesterase
-
 Homo sapiens