3.4.14.9: tripeptidyl-peptidase I
This is an abbreviated version!
For detailed information about tripeptidyl-peptidase I, go to the full flat file.
Word Map on EC 3.4.14.9
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3.4.14.9
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infantile
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neurodegenerative
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lincl
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late-infantile
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lipofuscinoses
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batten
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curvilinear
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palmitoyl-protein
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pepstatin-insensitive
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cdc28p
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serine-carboxyl
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lipopigments
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molecular biology
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diagnostics
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medicine
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analysis
- 3.4.14.9
-
infantile
- neurodegenerative
-
lincl
-
late-infantile
- lipofuscinoses
- batten
-
curvilinear
- palmitoyl-protein
-
pepstatin-insensitive
- cdc28p
-
serine-carboxyl
-
lipopigments
- molecular biology
- diagnostics
- medicine
- analysis
Reaction
Release of an N-terminal tripeptide from a polypeptide, but also has endopeptidase activity =
Synonyms
aminopeptidase, tripeptidyl, I, AO090166000084, ceroid lipofuscinosis 2 protease, CLN2, CLN2 protein, CLN2p, EC 3.4.14.8, LPIC, lysosomal pepstatin insensitive protease, N-terminal tripeptidyl exopeptidase, SedB, SedC, SedD, sedolisin B, sedolisin C, sedolisin D, TPP I, TPP-I, Tpp1, TPP1F, TPPI, tripeptidyl aminopeptidase, tripeptidyl aminopeptidase I, tripeptidyl exopeptidase, tripeptidyl peptidase, tripeptidyl peptidase 1, tripeptidyl peptidase I, tripeptidyl peptidase-I, tripeptidyl-peptidase 1, tripeptidyl-peptidase I, TTP-I, v4-7
ECTree
3.4.14.9 tripeptidyl-peptidase IAdvanced search results
results (
results (Engineering
Engineering on EC 3.4.14.9 - tripeptidyl-peptidase I
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
C365R
D360A
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
G284V
G473R
the mutation probably compromises the active center and results in loss of proteolytic activity
G77R
I287N
K428N
no apparent conformational destabilization is observed for the missense mutation
N286Q
-
the secreted proenzyme formes non-native, interchain disulfide bridges and displays only residual TPP I activity upon acidification. A small portion of the mutant enzyme reaches the lysosome and is processed to an active species, however, it shows low thermal and pH stability
N286S
P202L
P544S
Q248P
the mutation probably compromises the active center and results in loss of proteolytic activity
Q422H
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
R127Q
R206C
R208X
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mutation is identified in patients with late infantile ceroid lipofuscinosis, no detection of any translational product for the mutant
R266Q
no apparent conformational destabilization is observed for the missense mutation
R447H
S475L
T353P
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mutation is identified in patients with late infantile ceroid lipofuscinosis, enzyme shows 5.5% of wild-type enzyme when expressed in HEK cells, blocked processing to mature size peptidase leads to protein retention in the endoplasmic reticulum and rapid degradation in non-lysosomal compartments
V216M
no apparent conformational destabilization is observed for the missense mutation
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
V277M
R446H
additional information
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
G284V
the mutation probably compromises the active center and results in loss of proteolytic activity
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
G77R
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the mutation is associated with classic late infantile neuronal ceroid lipofuscinosis
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
I287N
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mutation is identified in patients with late infantile ceroid lipofuscinosis, enzyme shows 4.1% of wild-type enzyme when expressed in HEK cells, blocked processing to mature size peptidase leads to protein retention in the endoplasmic reticulum and rapid degradation in non-lysosomal compartments
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
N286S
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mutation is identified in patients with late infantile ceroid lipofuscinosis, enzyme shows 5.8% of wild-type enzyme when expressed in HEK cells, blocked processing to mature size peptidase leads to protein retention in the endoplasmic reticulum and rapid degradation in non-lysosomal compartments
N286S
the substitution results in loss of one glycosylation site, which leads to almost complete loss of protease activity
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
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
P544S
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demonstrates a normal polypeptide pattern on Western blots, enzyme activity, and lysosomal localization
P544S
protein processing similar to wild-type, lysosomal localisation, 32.8% of wild-type activity
Q422H
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mutation is identified in patients with late infantile ceroid lipofuscinosis, enzyme shows 4.7% of wild-type enzyme when expressed in HEK cells, blocked processing to mature size peptidase leads to protein retention in the endoplasmic reticulum and rapid degradation in non-lysosomal compartments
R127Q
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mutation is identified in patients with late infantile ceroid lipofuscinosis, enzyme shows 74.3% of wild-type enzyme when expressed in HEK cells
R127Q
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demonstrates a normal polypeptide pattern on Western blots, enzyme activity, and lysosomal localization
R127Q
protein processing similar to wild-type,lysosomal localization, 43% of wild-type activity
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
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
S475L
the mutation probably compromises the active center and results in loss of proteolytic activity
S475L
protein processing similar to wild-type, lysosomal localization, no enzymatic activity
V277M
the mutation probably compromises the active center and results in loss of proteolytic activity
R446H
the Tpp1f allele produces normal levels of properly spliced transcript, albeit with the Arg446His mutation
R446H
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the Tpp1f allele produces normal levels of properly spliced transcript, albeit with the Arg446His mutation
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additional information
knockout mice containing the LSL-TPP1 transgene in the ROSA26 locus are referred to as TgLSL-TPP1, 5'-integration of TgLSL-TPP1 into the ROSA26 locus. A cloned PCR-amplified region of ROSA26 corresponds to nucleotides 113076032 to 113077227 of Mus musculus strain C57BL/6J chromosome 6 (GRCm38.p4). Method development for creation of mice expressing cre/ERT2 transgenes, transgenic mouse with inducible TPP1 to benchmark treatment approaches, evaluation of treatment at different stages of disease. A construct containing a loxP-flanked stop cassette inserted between the chicken-actin promoter and a sequence encoding murine TPP1 (TgLSL-TPP1) is integrated into the ROSA26 locus in mice by homologous recombination. Tested in both transfected CHO cells and in transgenic mice, the TgLSL-TPP1 does not express TPP1 until cre-mediated removal of the LSL cassette, which results in supraphysiological levels of TPP1 activity. Two of the four cre/ERT2 driver transgenes have significant cre activity in the absence of tamoxifen, while cre-mediated recombination cannot be induced by tamoxifen by two others. The germline-recombined mouse transgenic that constitutively overexpresses TPP1 allow long-term evaluation of overexposure to the enzyme and in cell culture, the inducible transgene may be a useful tool in biomarker discovery projects
additional information
-
knockout mice containing the LSL-TPP1 transgene in the ROSA26 locus are referred to as TgLSL-TPP1, 5'-integration of TgLSL-TPP1 into the ROSA26 locus. A cloned PCR-amplified region of ROSA26 corresponds to nucleotides 113076032 to 113077227 of Mus musculus strain C57BL/6J chromosome 6 (GRCm38.p4). Method development for creation of mice expressing cre/ERT2 transgenes, transgenic mouse with inducible TPP1 to benchmark treatment approaches, evaluation of treatment at different stages of disease. A construct containing a loxP-flanked stop cassette inserted between the chicken-actin promoter and a sequence encoding murine TPP1 (TgLSL-TPP1) is integrated into the ROSA26 locus in mice by homologous recombination. Tested in both transfected CHO cells and in transgenic mice, the TgLSL-TPP1 does not express TPP1 until cre-mediated removal of the LSL cassette, which results in supraphysiological levels of TPP1 activity. Two of the four cre/ERT2 driver transgenes have significant cre activity in the absence of tamoxifen, while cre-mediated recombination cannot be induced by tamoxifen by two others. The germline-recombined mouse transgenic that constitutively overexpresses TPP1 allow long-term evaluation of overexposure to the enzyme and in cell culture, the inducible transgene may be a useful tool in biomarker discovery projects
additional information
-
knockout mice containing the LSL-TPP1 transgene in the ROSA26 locus are referred to as TgLSL-TPP1, 5'-integration of TgLSL-TPP1 into the ROSA26 locus. A cloned PCR-amplified region of ROSA26 corresponds to nucleotides 113076032 to 113077227 of Mus musculus strain C57BL/6J chromosome 6 (GRCm38.p4). Method development for creation of mice expressing cre/ERT2 transgenes, transgenic mouse with inducible TPP1 to benchmark treatment approaches, evaluation of treatment at different stages of disease. A construct containing a loxP-flanked stop cassette inserted between the chicken-actin promoter and a sequence encoding murine TPP1 (TgLSL-TPP1) is integrated into the ROSA26 locus in mice by homologous recombination. Tested in both transfected CHO cells and in transgenic mice, the TgLSL-TPP1 does not express TPP1 until cre-mediated removal of the LSL cassette, which results in supraphysiological levels of TPP1 activity. Two of the four cre/ERT2 driver transgenes have significant cre activity in the absence of tamoxifen, while cre-mediated recombination cannot be induced by tamoxifen by two others. The germline-recombined mouse transgenic that constitutively overexpresses TPP1 allow long-term evaluation of overexposure to the enzyme and in cell culture, the inducible transgene may be a useful tool in biomarker discovery projects
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