Protein Variants | Comment | Organism |
---|---|---|
S199A | mutation shows 1-5% of normal activity | Homo sapiens |
S199A/S214A | mutant enzyme with very low enzyme activity | Homo sapiens |
S214A | mutant shows 31% of normal activity | Homo sapiens |
S234A | mutation shows 1-5% of normal activity. Partial localization to lysosomes, although a major proportion is retained in the endoplasmic reticulum | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | the most severe form of neuronal ceroid lipofuscinoses, infantile neuronal ceroid lipofuscinosis (INCL), is caused by mutations in the CLN1 gene, resulting in a deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P50897 | precursor | - |
Posttranslational Modification | Comment | Organism |
---|---|---|
glycoprotein | N-glycosylation of N197 and N232, but not N212, is essential for enzyme activity and intracellular transport. Deglycosylation of overexpressed PPT1 produced in neurons and fibroblasts demonstrates differentially modified PPT1 in different cell types | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | the most severe form of neuronal ceroid lipofuscinoses, infantile neuronal ceroid lipofuscinosis (INCL), is caused by mutations in the CLN1 gene, resulting in a deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 | Homo sapiens | ? | - |
? |
Subunits | Comment | Organism |
---|---|---|
More | PPT1 forms oligomers | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
palmitoyl protein thioesterase 1 | - |
Homo sapiens |
PPT1 | - |
Homo sapiens |