Activating Compound | Comment | Organism | Structure |
---|---|---|---|
additional information | isoform GBA2 requires phospholipids for optimal activity | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D409H | the mutation is associated with Gauchers disease | Homo sapiens |
L444P | the mutation is associated with Gauchers disease | Homo sapiens |
N409S | the mutation is associated with Gauchers disease | Homo sapiens |
Inhibitors | Comment | Organism | Structure |
---|---|---|---|
cyclosporin A | - |
Homo sapiens | |
tamoxifen | - |
Homo sapiens | |
verapamil | - |
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. |
---|---|---|---|---|---|---|
beta-glucosylceramide + H2O | Homo sapiens | - |
D-glucose + ceramide | - |
? | |
D-glucosylsphingosine + H2O | Homo sapiens | - |
? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P04062 | - |
- |
Homo sapiens | Q9HCG7 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Homo sapiens | - |
colon | - |
Homo sapiens | - |
heart | - |
Homo sapiens | - |
kidney | - |
Homo sapiens | - |
liver | - |
Homo sapiens | - |
lung | - |
Homo sapiens | - |
placenta | - |
Homo sapiens | - |
skeletal muscle | - |
Homo sapiens | - |
small intestine | - |
Homo sapiens | - |
spleen | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
beta-glucosylceramide + H2O | - |
Homo sapiens | D-glucose + ceramide | - |
? | |
D-glucosylsphingosine + H2O | - |
Homo sapiens | ? | - |
? |
Subunits | Comment | Organism |
---|---|---|
? | x * 60000, SDS-PAGE | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
acid beta-glucocerebrosidase | - |
Homo sapiens |
acid beta-glucosidase | - |
Homo sapiens |
acid beta-glucosylceramidase | - |
Homo sapiens |
beta-glucosylceramidase 2 | - |
Homo sapiens |
bile acid beta-glucosidase | - |
Homo sapiens |
D-glucosyl-N-acylsphingosine glucohydrolase | - |
Homo sapiens |
GBA1 | - |
Homo sapiens |
GBA2 | - |
Homo sapiens |
GlcCerase | - |
Homo sapiens |
glucocerebrosidase | - |
Homo sapiens |
lysosomal glucosylceramidase | - |
Homo sapiens |
non-lysosomal beta-glucosylceramidase | - |
Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
4 | 5 | - |
Homo sapiens |
5.5 | 6.5 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | isoform GBA2 mutations are associated with some forms of hereditary spastic paraplegia and inherited cerebellar ataxia | Homo sapiens |
malfunction | loss of isoform GBA1 causes Gauchers disease. Defective GBA1 enzyme activity in humans is also associated with an increased risk of multiple myeloma and other malignancies | Homo sapiens |