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: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 |
|---|---|---|---|
| 101149522 | GORGO41139 | ||
| 101161703 | ORYLA00514 | ||
| 101578808 | OCTDE14311 | ||
| 101617845 | JACJA17955 | ||
| 101724913 | HETGA22248 | ||
| 101872244 | MELUD07880 | ||
| 101944232 | CHRPI06729 | ||
| 101965548 | ICTTR09886 | ||
| 102020292 | CHILA23614 | ||
| 102169733 | CAPHI18304 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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
GlyCosmos Portal v4.4.0
Last updated: December 8, 2025