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

Description

Predicted to have acid sphingomyelin phosphodiesterase activity. Predicted to be involved in ceramide biosynthetic process and sphingomyelin catabolic process. Predicted to localize to 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

Expression

All Expression Data

1 figure from Park et al., 2019

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 3 figures from Keatinge et al., 2023
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With smpd1 Human Ortholog

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

Associated With smpd1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR004843	Calcineurin-like phosphoesterase domain, ApaH type
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