N-acylsphingosine amidohydrolase 1
| GO Term | Evidence Code | PMID |
|---|---|---|
| regulation of steroid biosynthetic process | ||
| regulation of programmed necrotic cell death | ||
| cellular response to tumor necrosis factor |
| GO Term | Evidence Code | PMID |
|---|---|---|
| transcription corepressor activity | ||
| protein binding | ||
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | ||
| nuclear receptor binding | ||
| N-acylsphingosine amidohydrolase activity |
| Gene Ontology |
|---|
| N-acylsphingosine amidohydrolase activity |
| fatty acid metabolic process |
| hydrolase activity |
| lipid metabolic process |
| sphingolipid metabolic process |
| InterPro |
|---|
| Acid ceramidase, N-terminal |
| Acid ceramidase-like |
| Choloylglycine hydrolase/NAAA C-terminal |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050464 | Farber lipogranulomatosis | |
| DOID:0111527 | spinal muscular atrophy with progressive myoclonic epilepsy | |
| DOID:1927 | sphingolipidosis |
| HPO ID | HPO Term |
|---|---|
| HP:0002098 | Respiratory distress |
| HP:0002100 | Recurrent aspiration pneumonia |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002197 | Generalized-onset seizure |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002207 | Diffuse reticular or finely nodular infiltrations |
| HP:0002240 | Hepatomegaly |
| HP:0002300 | Mutism |
| HP:0002312 | Clumsiness |
| HP:0002355 | Difficulty walking |
| Disease ID | Disease Name |
|---|---|
| OMIM:159950 |
|
| ORPHA:2590 |
|
| OMIM:228000 |
|
| ORPHA:333 |
|
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101149522 | GORGO41139 | ||
| 101161703 | ORYLA00514 | ||
| 101578808 | OCTDE14311 | ||
| 101617845 | JACJA17955 | ||
| 101724913 | HETGA22248 | ||
| 101872244 | MELUD07880 | ||
| 101944232 | CHRPI06729 | ||
| 101965548 | ICTTR09886 | ||
| 102020292 | CHILA23614 | ||
| 102169733 | CAPHI18304 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: December 8, 2025