ASAH1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| N-acylsphingosine amidohydrolase 1 | MIM:613468 | Ensembl:ENSG00000104763 | HGNC:HGNC:735 | PA35025 | 8p22 |
GO terms in ASAH1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0003824 | catalytic activity |
| MF | IBA | GO:0016810 | hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds |
| MF | IBA | GO:0017040 | N-acylsphingosine amidohydrolase activity |
| MF | TAS | GO:0017040 | N-acylsphingosine amidohydrolase activity |
| MF | IEA | GO:0102121 | ceramidase activity |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IDA | GO:0005615 | extracellular space |
| CC | TAS | GO:0043202 | lysosomal lumen |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | TAS | GO:1904724 | tertiary granule lumen |
| CC | TAS | GO:1904813 | ficolin-1-rich granule lumen |
| BP | TAS | GO:0006672 | ceramide metabolic process |
| BP | TAS | GO:0006687 | glycosphingolipid metabolic process |
| BP | TAS | GO:0043312 | neutrophil degranulation |
Gene expression in normal tissue: ASAH1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ASAH1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | ceramide_pathway | Ceramide signaling pathway |
| humancyc | PWY3DJ-11470 | sphingosine and sphingosine-1-phosphate metabolism |
| kegg | hsa00600 | Sphingolipid metabolism - Homo sapiens (human) |
| kegg | hsa04071 | Sphingolipid signaling pathway - Homo sapiens (human) |
| kegg | hsa04142 | Lysosome - Homo sapiens (human) |
| wikipathways | WP1422 | Sphingolipid Metabolism |
| wikipathways | WP26 | Signal Transduction of S1P Receptor |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1660662 | Glycosphingolipid metabolism |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-428157 | Sphingolipid metabolism |
| reactome | R-HSA-556833 | Metabolism of lipids |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| biocarta | edg1pathway | phospholipids as signalling intermediaries |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ASAH1
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