N-acylsphingosine amidohydrolase 1
| GO Term | Evidence Code | PMID |
|---|---|---|
| fatty acid metabolic process | ||
| sphingolipid metabolic process |
|
|
| keratinocyte differentiation | ||
| negative regulation of DNA-templated transcription | ||
| negative regulation of transcription, DNA-templated |
| 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 |
|---|
| fatty acid metabolic process |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds |
| hydrolase activity |
| InterPro |
|---|
| Acid ceramidase, N-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:0003444 | EMG: chronic denervation signs |
| HP:0003621 | Juvenile onset |
| HP:0003640 | CNS foam cells |
| HP:0003676 | Progressive |
| HP:0003701 | Proximal muscle weakness |
| HP:0004302 | Functional motor deficit |
| HP:0004322 | Short stature |
| HP:0005483 | Abnormal epiglottis morphology |
| HP:0006511 | Laryngeal stridor |
| HP:0006575 | Intrahepatic cholestasis with episodic jaundice |
| Disease ID | Disease Name |
|---|---|
| OMIM:159950 |
|
| ORPHA:2590 |
|
| OMIM:228000 |
|
| ORPHA:333 |
|
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 114603838 | PODMU29830 | ||
| 115191910 | SALTR31590 | ||
| 115202129 | SALTR17260 | ||
| 115390153 | SALFA19488 | ||
| 115539725 | GADMO43085 | ||
| 115610330 | STRHB18949 | ||
| 116443796 | CORMO20940 | ||
| 117021668 | RHIFE04436 | ||
| 118312765 | SCOMX30638 | ||
| 118887993 | BALMU31139 |
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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