sphingomyelin phosphodiesterase 1
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane repair | ||
| sphingomyelin metabolic process | ||
| sphingomyelin catabolic process | ||
| sphingomyelin catabolic process | ||
| signal transduction |
| 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:0000007 | Autosomal recessive inheritance |
| HP:0000256 | Macrocephaly |
| HP:0000639 | Nystagmus |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000708 | Atypical behavior |
| HP:0000716 | Depression |
| HP:0000737 | Irritability |
| HP:0000823 | Delayed puberty |
| HP:0000938 | Osteopenia |
| HP:0000939 | Osteoporosis |
| 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