Protein Summary
Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]
- ENST00000262097
- ENSP00000262097
- ENSG00000104763
- ENST00000314146
- ENSP00000326970
- ENST00000381733
- ENSP00000371152
- ENST00000635998
- ENSP00000490506
- ENST00000637790
- ENSP00000490272
- ASAH
- AC
- PHP
- ASAH
- PHP32
- ACDase
- SMAPME
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
disease perturbation | 1 | ||
interacting protein | 0.98 | ||
transcription factor perturbation | 0.98 | ||
kinase perturbation | 0.97 | ||
transcription factor binding site profile | 0.88 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 308.56 (req: < 5)
Gene RIFs: 67 (req: <= 3)
Antibodies: 271 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 308.56 (req: >= 5)
Gene RIFs: 67 (req: > 3)
Antibodies: 271 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 7
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligands: 135
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 1