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 |
|---|---|---|---|---|---|
OMIM IDMIM:613468 Ensembl IDEnsembl:ENSG00000104763 HGNC IDHGNC:HGNC:735 PHARMGKB IDPA35025 Map Location8p22 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ASAH1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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