Smpd1 - sphingomyelin phosphodiesterase 1, acid lysosomal Gene
Also Known as ASM; aSMase; A-SMase; Zn-SMase
Species: Mus musculus
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 |
| Molecular Function GO Annotation | Evidence | References | 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 | References | 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 | References | 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 |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sphingomyelin phosphodiesterase |
|
Recombinant Smpd1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P76134 | SMPD1 Protein, Mouse (sf9, His) | Q04519 (L45-L626) | ≥ 85%, as determined by reducing SDS-PAGE. |