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Literature summary for 3.5.1.23 extracted from
- Lysosomal glycosphingolipid catabolism by acid ceramidase formation of glycosphingoid bases during deficiency of glycosidases (2016), FEBS Lett., 590, 716-725 .
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| gene ASAH1, recombinant overexpression in HEK-293 cells from pLenti6.3/TO/V5-DEST vector | Homo sapiens |
Inhibitors
| Inhibitors | Comment | Organism | Structure |
|---|---|---|---|
| 1-hexylcarbamoyl-5-fluorouracil | i.e. carmofur | Homo sapiens |  |
| 1-hexylcarbamoyl-5-fluorouracil | i.e. carmofur | Mus musculus | |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| lysosome | - |
Homo sapiens | 5764 | - |
| lysosome | - |
Mus musculus | 5764 | - |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | Q13510 | - |
- |
| Mus musculus | Q9WV54 | - |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| bone marrow | - |
Homo sapiens | - |
| bone marrow | - |
Mus musculus | - |
| fibroblast | - |
Homo sapiens | - |
| fibroblast | - |
Mus musculus | - |
| liver | - |
Homo sapiens | - |
| liver | - |
Mus musculus | - |
| lung | - |
Homo sapiens | - |
| lung | - |
Mus musculus | - |
| spleen | - |
Homo sapiens | - |
| spleen | - |
Mus musculus | - |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| C5-ceramide + H2O | - |
Mus musculus | valerate + sphingosine | - |
? | |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| acid ceramidase | - |
Homo sapiens |
| acid ceramidase | - |
Mus musculus |
| ASAH1 | - |
Homo sapiens |
| ASAH1 | - |
Mus musculus |
| N-acylsphingosine deacylase | - |
Homo sapiens |
| N-acylsphingosine deacylase | - |
Mus musculus |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | genetic loss or inhibition of acid ceramidase prevents formation of glycosphingoid bases | Mus musculus |
| malfunction | the genetic loss or inhibition of acid ceramidase prevents formation of glycosphingoid bases | Homo sapiens |
| physiological function | acid ceramidase actively forms glycosphingoid bases in Gaucher and Fabry disease. Molecular basis of the formation of glucosylsphingosine and globotriaosylsphingosine during deficiency of glucocerebrosidase (Gaucher disease) and alpha-galactosidase A (Fabry disease), active role of acid ceramidase in both processes through deacylation of lysosomal glycosphingolipids, overview. Analysis of the potential pathophysiological relevance of elevated glycosphingoid bases generated through this alternative metabolism in patients suffering from lysosomal glycosidase defects. Possibility of broadened substrate specificity of acid ceramidase during lysosomal lipid accumulation | Homo sapiens |
| physiological function | acid ceramidase actively forms glycosphingoid bases in Gaucher and Fabry disease. Molecular basis of the formation of glucosylsphingosine and globotriaosylsphingosine during deficiency of glucocerebrosidase (Gaucher disease) and alpha-galactosidase A (Fabry disease), active role of acid ceramidase in both processes through deacylation of lysosomal glycosphingolipids, overview. Possibility of broadened substrate specificity of acid ceramidase during lysosomal lipid accumulation | Mus musculus |
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Release 2023.1 (January 2023)
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