Protein Variants | Comment | Organism |
---|---|---|
D409H | naturally occurring mutation involved in Gaucher's disease development with reduced enzyme activity, obligated GD heterozygotes | Homo sapiens |
L444P | naturally occurring mutation involved in Gaucher's disease development with reduced enzyme activity, obligated GD heterozygotes | Homo sapiens |
additional information | naturally occurring deletion mutantions involved in Gaucher's disease development with reduced enzyme activity | Homo sapiens |
N370S | naturally occurring mutation involved in Gaucher's disease development with reduced enzyme activity, obligated GD heterozygotes, and homozygote GD patients | Homo sapiens |
N370S/D409H | naturally occurring mutation involved in Gaucher's disease development with reduced enzyme activity, homozygote GD patients | Homo sapiens |
N370S/L444P | naturally occurring mutation involved in Gaucher's disease development with reduced enzyme activity, homozygote GD patients | Homo sapiens |
KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
2.97 | - |
4-methylumbelliferyl beta-D-glucoside | pH 5.5, 37°C, mutant N370S/L444P, Gaucher's disease patient | Homo sapiens | |
6.04 | - |
4-methylumbelliferyl beta-D-glucoside | pH 5.5, 37°C, wild-type enzyme | Homo sapiens | |
7.18 | - |
4-methylumbelliferyl beta-D-glucoside | pH 5.5, 37°C, mutant N370S, heterozygote | Homo sapiens | |
12.37 | - |
4-methylumbelliferyl beta-D-glucoside | pH 5.5, 37°C, mutant N370S/N370S, Gaucher's disease patient | Homo sapiens | |
12.4 | - |
4-methylumbelliferyl beta-D-glucoside | pH 5.5, 37°C, mutant L444P, heterozygote | Homo sapiens | |
18.43 | - |
4-methylumbelliferyl beta-D-glucoside | pH 5.5, 37°C, mutant N370S and deletion mutation, Gaucher's disease patient | Homo sapiens | |
37.2 | - |
4-methylumbelliferyl beta-D-glucoside | pH 5.5, 37°C, mutant D409H, heterozygote | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | enzyme deficiency causes the Gaucher's disease, the enzyme participates in degradation of glycosphingolipids | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
healthy humans and Gaucher's disease patients | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
leukocyte | from healthy humans and Gaucher's disease patients | Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
- |
Homo sapiens |
0.000007 | 0.000043 | mutant enzymes of GD patients | Homo sapiens |
0.000063 | 0.00018 | obligated GD heterozygotes | Homo sapiens |
0.0001 | 0.0005 | wild-type enzyme | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4-methylumbelliferyl beta-D-glucoside + H2O | - |
Homo sapiens | 4-methylumbelliferol + beta-D-glucose | - |
? | |
additional information | enzyme deficiency causes the Gaucher's disease, the enzyme participates in degradation of glycosphingolipids | Homo sapiens | ? | - |
? |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Homo sapiens |
Temperature Stability Minimum [°C] | Temperature Stability Maximum [°C] | Comment | Organism |
---|---|---|---|
60 | - |
heat stability of wild-type and mutant enzymes at 60°C, overview, the wild-type enzyme is inactivated within 1 min, homozygote mutants are inactive after 2 min, heterozygotes after 2-4 min | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
5 | 5.4 | slight variations between wild-type and mutant enzymes, overview | Homo sapiens |