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Literature summary for 3.4.14.9 extracted from

  • Walus, M.; Kida, E.; Golabek, A.A.
    Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I (2010), Hum. Mutat., 31, 710-721.
    View publication on PubMed
Search for more literature for 3.4.14.9

Cloned(Commentary)

Cloned (Comment) Organism
expressed in CHO cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
C365R protein processing different from wild-type, mutant is not localized in lysosomes, intracellular trafficking of mutant is altered compared to wild-type, no enzymatic activity Homo sapiens
E343K protein processing different from wild-type, mutant is not localized in lysosomes, intracellular trafficking of mutant is altered compared to wild-type, no enzymatic activity Homo sapiens
G284V protein processing different from wild-type, mutant is not localized in lysosomes, intracellular trafficking of mutant is altered compared to wild-type, no enzymatic activity Homo sapiens
G77R protein processing different from wild-type, mutant is not localized in lysosomes, intracellular trafficking of mutant is altered compared to wild-type, 1% of wild-type activity Homo sapiens
I287N protein processing different from wild-type, mutant is not localized in lysosomes, intracellular trafficking of mutant is altered compared to wild-type, no enzymatic activity Homo sapiens
N286S protein processing different from wild-type, mutant is not localized in lysosomes, intracellular trafficking of mutant is altered compared to wild-type, no enzymatic activity Homo sapiens
P202L protein processing different from wild-type, mutant is not localized in lysosomes, intracellular trafficking of mutant is altered compared to wild-type, no enzymatic activity Homo sapiens
P544S protein processing similar to wild-type, lysosomal localisation, 32.8% of wild-type activity Homo sapiens
Q442H protein processing different from wild-type, mutant is not localized in lysosomes, intracellular trafficking of mutant is altered compared to wild-type, no enzymatic activity Homo sapiens
R127Q protein processing similar to wild-type,lysosomal localization, 43% of wild-type activity Homo sapiens
R206C protein processing different from wild-type, mutant is not localized in lysosomes, intracellular trafficking of mutant is altered compared to wild-type, 0.7% of wild-type activity Homo sapiens
R447H protein processing different from wild-type, mutant is not localized in lysosomes, intracellular trafficking of mutant is altered compared to wild-type, 1.8% of wild-type activity Homo sapiens
S475L protein processing similar to wild-type, lysosomal localization, no enzymatic activity Homo sapiens
V227M protein processing different from wild-type, mutant is not localized in lysosomes, intracellular trafficking of mutant is altered compared to wild-type, no enzymatic activity Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
 Homo sapiens 5764
-

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
46000
-
 SDS-PAGE, processed form Homo sapiens
68000
-
 SDS-PAGE, proenzyme Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens O14773
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
Ala-Ala-Phe-7-amido-4-methylcoumarin + H2O
-
 Homo sapiens Ala-Ala-Phe + 7-amino-4-methylcoumarin
-
 ?

Synonyms

Synonyms Comment Organism
Tpp1
-
 Homo sapiens
tripeptidyl peptidase 1
-
 Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
 assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
3.5
-
 assay at Homo sapiens