Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Smpd1provided by MGI
Official Full Name: sphingomyelin phosphodiesterase 1, acid lysosomalprovided by MGI
Primary source: MGI:MGI:98325
See related: Ensembl:ENSMUSG00000037049 AllianceGenome:MGI:98325
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ASM; aSMase; A-SMase; Zn-SMase
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]
Expression: Ubiquitous expression in heart adult (RPKM 61.3), kidney adult (RPKM 47.4) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 E3; 7 55.9 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (105203567..105207596)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (105554360..105558389)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neurons regulate the esterification of bioactive lipid mediators in the brain of acid sphingomyelinase deficient mice.
Title: Neurons regulate the esterification of bioactive lipid mediators in the brain of acid sphingomyelinase deficient mice.
Factor VIIa releases phosphatidylserine-enriched extracellular vesicles from endothelial cells by activating acid sphingomyelinase.
Title: Factor VIIa releases phosphatidylserine-enriched extracellular vesicles from endothelial cells by activating acid sphingomyelinase.
Regulation of NLRP3 Inflammasome Activation and Inflammatory Exosome Release in Podocytes by Acid Sphingomyelinase During Obesity.
Title: Regulation of NLRP3 Inflammasome Activation and Inflammatory Exosome Release in Podocytes by Acid Sphingomyelinase During Obesity.
Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency.
Title: Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency.
Caspase-7 activates ASM to repair gasdermin and perforin pores.
Title: Caspase-7 activates ASM to repair gasdermin and perforin pores.
Targeting the ASMase/S1P pathway protects from sortilin-evoked vascular damage in hypertension.
Title: Targeting the ASMase/S1P pathway protects from sortilin-evoked vascular damage in hypertension.
Acid Sphingomyelinase Controls Early Phases of Skeletal Muscle Regeneration by Shaping the Macrophage Phenotype.
Title: Acid Sphingomyelinase Controls Early Phases of Skeletal Muscle Regeneration by Shaping the Macrophage Phenotype.
Functional inhibition or genetic deletion of acid sphingomyelinase bacteriostatically inhibits Anaplasma phagocytophilum infection in vivo.
Title: Functional inhibition or genetic deletion of acid sphingomyelinase bacteriostatically inhibits Anaplasma phagocytophilum infection in vivo.
Homozygous Smpd1 deficiency aggravates brain ischemia/ reperfusion injury by mechanisms involving polymorphonuclear neutrophils, whereas heterozygous Smpd1 deficiency protects against mild focal cerebral ischemia.
Title: Homozygous Smpd1 deficiency aggravates brain ischemia/ reperfusion injury by mechanisms involving polymorphonuclear neutrophils, whereas heterozygous Smpd1 deficiency protects against mild focal cerebral ischemia.
Altered Macrophage Function Associated with Crystalline Lung Inflammation in Acid Sphingomyelinase Deficiency.
Title: Altered Macrophage Function Associated with Crystalline Lung Inflammation in Acid Sphingomyelinase Deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (86)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AF206720 (e-PCR)
- UniSTS:208174

Smpd1 (e-PCR), detects polymorphism
- UniSTS:144444

Smpd1 (e-PCR), detects polymorphism
- UniSTS:507234

UniSTS:235734 (e-PCR)
- UniSTS:235734

SMPD1_855 (e-PCR)
- UniSTS:277756

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acid sphingomyelin phosphodiesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acid sphingomyelin phosphodiesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables acid sphingomyelin phosphodiesterase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on glycosyl bonds	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylcholine phospholipase C activity	IEA Inferred from Electronic Annotation more info
enables sphingomyelin phosphodiesterase activity	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cellular response to UV	ISO Inferred from Sequence Orthology more info
involved_in cellular response to calcium ion	ISO Inferred from Sequence Orthology more info
involved_in ceramide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ceramide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ceramide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ceramide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of MAP kinase activity	ISO Inferred from Sequence Orthology more info
involved_in plasma membrane repair	IDA Inferred from Direct Assay more info	PubMed
involved_in plasma membrane repair	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein dephosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of viral entry into host cell	ISO Inferred from Sequence Orthology more info
involved_in response to cocaine	ISO Inferred from Sequence Orthology more info
involved_in response to interleukin-1	ISO Inferred from Sequence Orthology more info
involved_in response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ionizing radiation	ISO Inferred from Sequence Orthology more info
involved_in response to tumor necrosis factor	ISO Inferred from Sequence Orthology more info
involved_in response to type I interferon	ISO Inferred from Sequence Orthology more info
involved_in response to virus	ISO Inferred from Sequence Orthology more info
involved_in sphingomyelin catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sphingomyelin catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sphingomyelin catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of symbiont entry into host cell	ISO Inferred from Sequence Orthology more info
involved_in termination of signal transduction	ISO Inferred from Sequence Orthology more info
involved_in wound healing	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endolysosome	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in lamellar body	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	IEA Inferred from Electronic Annotation more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in lysosome	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sphingomyelin phosphodiesterase

Names: acid sphingomyelinase

NP_035551.1

EC 3.1.4.12

EC 3.1.4.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_011421.2 → NP_035551.1 sphingomyelin phosphodiesterase precursor

See identical proteins and their annotated locations for NP_035551.1

Status: VALIDATED

Source sequence(s)

AK145702, BP760033

Consensus CDS

CCDS21653.1

UniProtKB/Swiss-Prot

Q04519, Q3UL52

UniProtKB/TrEMBL

Q3UEE0, Q3UG03, Q8K011

Related

ENSMUSP00000042187.9, ENSMUST00000046983.10

Conserved Domains (3) summary

smart00741
Location:85 → 158

SapB; Saposin (B) Domains

cd00842
Location:199 → 494

MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain

pfam00149
Location:252 → 459

Metallophos; Calcineurin-like phosphoesterase