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:0007269 | Spinal muscular atrophy |
| HP:0007340 | Lower limb muscle weakness |
| HP:0007470 | Periarticular subcutaneous nodules |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0007957 | Corneal opacity |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0008955 | Progressive distal muscular atrophy |
| HP:0009134 | Osteolysis involving bones of the feet |
| HP:0009381 | Short finger |
| HP:0009771 | Osteolytic defects of the phalanges of the hand |
| Disease ID | Disease Name |
|---|---|
| OMIM:159950 |
|
| ORPHA:2590 |
|
| OMIM:228000 |
|
| ORPHA:333 |
|
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 109321837 | CROPO11664 | ||
| 110201225 | PHACI24343 | ||
| 111770931 | HORSE25468 | ||
| 111770943 | HORSE25468 | ||
| 112908911 | VULVU34787 | ||
| 113434659 | PSETE05313 | ||
| 113579253 | ELEEL24707 | ||
| 113591369 | ELEEL46674 | ||
| 113885085 | BOBOX26597 | ||
| 114036930 | VOMUR22629 |
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
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Last updated: December 8, 2025