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Literature summary for 3.1.2.22 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
Search for more literature for 3.1.2.22

Cloned(Commentary)

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

Protein Variants

Protein Variants Comment Organism
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
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
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)

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
-
-
-

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

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

Synonyms

Synonyms Comment Organism
palmitoyl protein thioesterase
-
 Homo sapiens
PPT1
-
 Homo sapiens