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Literature summary extracted from

  • Salonen, T.; Heinonen-Kopra, O.; Vesa, J.; Jalanko, A.
    Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis (2001), Mol. Cell. Neurosci., 18, 131-140.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
3.1.2.22 expression of enzyme carrying naturally occurring mutations in COS-1 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
3.1.2.22 L219Q naturally occurring mutation, mutation is associated with the late onset form of infantile neuronal ceroid lipofuscinosis, the mutant enzymes shows minor altered intracellular localization in transfected cells and are localized in the presynaptic space and neuronal shaft, about 10fold reduced activity Homo sapiens
3.1.2.22 additional information naturally occurring mutations delPhe84 and insCys45, mutation is associated with the late onset form of infantile neuronal ceroid lipofuscinosis, the mutant enzymes shows severely altered intracellular localization in transfected cells and are targeted to the endoplasmic reticulum, about 10fold reduced activity Homo sapiens
3.1.2.22 T75P naturally occurring mutation, mutation is associated with the late onset form of infantile neuronal ceroid lipofuscinosis, the mutant enzymes shows minor altered intracellular localization in transfected cells and are localized in the presynaptic space and neuronal shaft, about 10fold reduced activity Homo sapiens

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
-
-
-

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

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-[protein] + H2O
-
 Homo sapiens palmitate + protein
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.1.2.22 palmitoyl protein thioesterase
-
 Homo sapiens
3.1.2.22 PPT1
-
 Homo sapiens