N-acylsphingosine amidohydrolase 1
| GO Term | Evidence Code | PMID |
|---|---|---|
| sphingosine biosynthetic process | ||
| sphingosine biosynthetic process | ||
| ceramide biosynthetic process | ||
| ceramide catabolic process | ||
| ceramide catabolic process |
| 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:0002788 | Recurrent upper respiratory tract infections |
| HP:0002815 | Abnormality of the knee |
| HP:0002829 | Arthralgia |
| HP:0002878 | Respiratory failure |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003019 | Abnormality of the wrist |
| HP:0003049 | Ulnar deviation of the wrist |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003391 | Gowers sign |
| Disease ID | Disease Name |
|---|---|
| OMIM:159950 |
|
| ORPHA:2590 |
|
| OMIM:228000 |
|
| ORPHA:333 |
|
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 102425151 | MYOLU07436 | ||
| 103026123 | ASTMX15900 | ||
| 103040700 | ASTMX11794 | ||
| 103107505 | ERIEU05017 | ||
| 103178195 | CALMI15002 | ||
| 103215400 | CHLSB16937 | ||
| 103748255 | NANGA13629 | ||
| 104655223 | RHIRO40757 | ||
| 105463728 | MACNE43685 | ||
| 105705315 | AOTNA10433 |
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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