ZFIN is now using GRCz12tu for Genomic Data
Gene
smpd1
- ID
- ZDB-GENE-110411-222
- Name
- sphingomyelin phosphodiesterase 1
- Symbol
- smpd1 Nomenclature History
- Previous Names
-
- si:ch211-287a12.10
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable acid sphingomyelin phosphodiesterase activity. Acts upstream of or within lipid metabolic process and respiratory electron transport chain. Predicted to be located in extracellular region; lipid droplet; and membrane. Predicted to be active in extracellular space and lysosome. Human ortholog(s) of this gene implicated in Niemann-Pick disease; Niemann-Pick disease type A; and Niemann-Pick disease type B. Orthologous to human SMPD1 (sphingomyelin phosphodiesterase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Park et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Keatinge et al., 2023
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Niemann-Pick disease type A | Alliance | Niemann-Pick disease, type A | 257200 |
| Niemann-Pick disease type B | Alliance | Niemann-Pick disease, type B | 607616 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR008139 | Saposin B type domain |
| Domain | IPR041805 | Acid sphingomyelinase/endopolyphosphatase, metallophosphatase domain |
| Domain | IPR045473 | Sphingomyelin phosphodiesterase, C-terminal domain |
| Family | IPR011160 | Sphingomyelin phosphodiesterase |
| Homologous_superfamily | IPR011001 | Saposin-like |
| Homologous_superfamily | IPR029052 | Metallo-dependent phosphatase-like |
Domain Details Per Protein
| Protein | Additional Resources | Length | Acid sphingomyelinase/endopolyphosphatase, metallophosphatase domain | Metallo-dependent phosphatase-like | Saposin B type domain | Saposin-like | Sphingomyelin phosphodiesterase | Sphingomyelin phosphodiesterase, C-terminal domain |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1P933 | InterPro | 591 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers