Smpd1 - sphingomyelin phosphodiesterase 1, acid lysosomal Gene

Mus musculus

Also known as ASM; aSMase; A-SMase; Zn-SMase

Gene ID: 20597 | Gene type: protein coding

About Smpd1

Summary

Enables acid sphingomyelin phosphodiesterase activity and zinc ion binding activity. Involved in ceramide biosynthetic process; positive regulation of apoptotic process; and response to ionizing radiation. Acts upstream of or within ceramide metabolic process; Cholesterol metabolic process; and sphingomyelin catabolic process. Located in extracellular space. Is expressed in several structures, including alimentary system; integumental system; nervous system; sensory organ; and skeleton. Used to study Niemann-Pick disease. 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). [provided by Alliance of Genome Resources, Apr 2022]

Smpd1 Products(2)

mRNA	Protein	Name
NM_011421.2	NP_035551.1	sphingomyelin phosphodiesterase precursor
NM_011421.2	NP_035551.1	sphingomyelin phosphodiesterase precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables acid sphingomyelin phosphodiesterase activity	IDA IDA: Inferred from direct assay	8702487	MGI
enables zinc ion binding	IDA IDA: Inferred from direct assay	8702487	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in ceramide biosynthetic process	IDA IDA: Inferred from direct assay	35705808	MGI
involved in ceramide biosynthetic process	IMP IMP: Inferred from mutant phenotype	8706124	MGI
acts upstream of or within ceramide metabolic process	IMP IMP: Inferred from mutant phenotype	23046545	MGI
acts upstream of or within cholesterol metabolic process	IMP IMP: Inferred from mutant phenotype	22383528	MGI
involved in plasma membrane repair	IDA IDA: Inferred from direct assay	35705808	MGI
involved in positive regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	8706124	MGI
involved in response to ionizing radiation	IMP IMP: Inferred from mutant phenotype	8706124	MGI
acts upstream of or within sphingomyelin catabolic process	IMP IMP: Inferred from mutant phenotype	23973266	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
is active in extracellular space	IDA IDA: Inferred from direct assay	35705808	MGI
located in extracellular space	IDA IDA: Inferred from direct assay	8702487	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

sphingomyelin phosphodiesterase

acid sphingomyelinase

Recombinant Smpd1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76134	SMPD1 Protein, Mouse (sf9, His)	Q04519 (L45-L626)	≥95%

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13447	SMPD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Smpd1	NCBI	NCBI:6609

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