sphingomyelin phosphodiesterase 1
| GO Term | Evidence Code | PMID |
|---|---|---|
| termination of signal transduction | ||
| response to type I interferon | ||
| response to tumor necrosis factor | ||
| cellular response to UV | ||
| positive regulation of protein dephosphorylation |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular space | ||
| extracellular space | ||
| lysosome | ||
| lysosome | ||
| endosome |
| GO Term | Evidence Code | PMID |
|---|---|---|
| sphingomyelin phosphodiesterase activity | ||
| sphingomyelin phosphodiesterase activity | ||
| protein binding | ||
| zinc ion binding | ||
| hydrolase activity, acting on glycosyl bonds |
| Gene Ontology |
|---|
| acid sphingomyelin phosphodiesterase activity |
| ceramide biosynthetic process |
| hydrolase activity |
| metal ion binding |
| sphingomyelin catabolic process |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070111 | Niemann-Pick disease type A | |
| DOID:0070112 | Niemann-Pick disease type B | |
| DOID:14504 | Niemann-Pick disease |
| HPO ID | HPO Term |
|---|---|
| HP:0002019 | Constipation |
| HP:0002063 | Rigidity |
| HP:0002094 | Dyspnea |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0002155 | Hypertriglyceridemia |
| HP:0002186 | Apraxia |
| HP:0002188 | Delayed CNS myelination |
| HP:0002194 | Delayed gross motor development |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002207 | Diffuse reticular or finely nodular infiltrations |
| Disease ID | Disease Name |
|---|---|
| ORPHA:77293 |
|
| OMIM:257200 |
|
| OMIM:607616 |
|
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 6609 | Xenbase:XB-GENE-997694 | ||
| 10924 | SGD:S000002860 | ||
| 20597 | Xenbase:XB-GENE-997694 | MOUSE51736 | |
| 27293 | SGD:S000002860 | ||
| 57319 | SGD:S000002860 | ||
| 100340 | SGD:S000002860 | ||
| 174131 | ZFIN:ZDB-GENE-110411-222 | ||
| 176879 | Xenbase:XB-GENE-997694 | ||
| 181323 | Xenbase:XB-GENE-997694 | ||
| 294422 | SGD:S000002860 |
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