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Literature summary for 3.2.1.45 extracted from

  • Astudillo, L.; Therville, N.; Colacios, C.; Segui, B.; Andrieu-Abadie, N.; Levade, T.
    Glucosylceramidases and malignancies in mammals (2016), Biochimie, 125, 267-280 .
    View publication on PubMed

Activating Compound

Activating Compound Comment Organism Structure
additional information isoform GBA2 requires phospholipids for optimal activity Homo sapiens

Protein Variants

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

Inhibitors Comment Organism Structure
cyclosporin A
-
Homo sapiens
tamoxifen
-
Homo sapiens
verapamil
-
Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens P04062
-
-
Homo sapiens Q9HCG7
-
-

Source Tissue

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 and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
beta-glucosylceramide + H2O
-
Homo sapiens D-glucose + ceramide
-
?
D-glucosylsphingosine + H2O
-
Homo sapiens ?
-
?

Subunits

Subunits Comment Organism
? x * 60000, SDS-PAGE Homo sapiens

Synonyms

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

pH Optimum Minimum pH Optimum Maximum Comment Organism
4 5
-
Homo sapiens
5.5 6.5
-
Homo sapiens

General Information

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