Smpd1
Gene Detail

Symbol Name ID

Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal MGI:98325

Synonyms

acid sphingomyelinase, ASM, aSMase, A-SMase, Zn-SMase

Feature Type

protein coding gene

Genetic Map

Chromosome 7

55.90 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr7:105554360-105558388 bp, + strand From Ensembl annotation of GRCm38   4029 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:457  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: sphingomyelin phosphodiesterase (acid sphingomyelinase)
Gene Tree: Smpd1

Human homologs

Human Homolog		SMPD1, sphingomyelin phosphodiesterase 1, acid lysosomal
NCBI Gene ID		6609
neXtProt AC		NX_P17405
Human Synonyms		ASM, ASMASE, NPD
Human Chr (Location)		11p15.4-p15.1; chr11:6411644-6416228 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human SMPD1

Alleles and phenotypes

All alleles(4) : Targeted(4)
 

Nullizygous mutations cause tremors, ataxia, altered lipid homeostasis, increased foam cell number, Purkinje cell loss and premature death, and may lead to hepatosplenomegaly, hunched posture, reduced weight, abnormal apoptosis, sperm defects, dyspnea, and high susceptibility to bacterial infection.

 
Human Diseases Modeled Using Mouse Smpd1 (2)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	ceramide biosynthetic process, metabolic process, ...
Component	extracellular space, lamellar body, ...
Function	hydrolase activity, hydrolase activity, acting on glycosyl bonds, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (218)    Tissues (96)    Images (46)
Theiler Stages: 22, 23

Assay Type	Results
RNA in situ	218

cDNA source data(19)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(25) Genomic(4) cDNA(19) Primer pair(2)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000037049 (Evidence)
Entrez Gene	20597 (Evidence)
DFCI	TC1573125
DoTS	DT.101189094, DT.101372869, DT.101390685, DT.533897, DT.94288977, DT.94289036, DT.97371045
NIA Mouse Gene Index	U008564
EC	3.1.4.12
Consensus CDS Project	CCDS21653.1
International Mouse Knockout Project Status	Smpd1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000037049	Ensembl Gene Model | MGI Sequence Detail	4029	C57BL/6J
transcript	ENSMUST00000046983	Ensembl | MGI Sequence Detail	2411	Not Applicable
polypeptide	ENSMUSP00000042187	Ensembl | MGI Sequence Detail	627	Not Applicable

All sequences(97) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(31 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR004843	Metallophosphoesterase domain
InterPro	IPR008139	Saposin B
InterPro	IPR011001	Saposin-like
InterPro	IPR011160	Sphingomyelin phosphodiesterase
Protein Ontology	PR:000015292	sphingomyelin phosphodiesterase

References

(Earliest) J:18511 Pentchev PG, et al., A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Biochim Biophys Acta. 1980 Sep 8;619(3):669-79
(Latest) J:193533 Jbeily N, et al., Hyperresponsiveness of mice deficient in plasma-secreted sphingomyelinase reveals its pivotal role in early phase of host response. J Lipid Res. 2013 Feb;54(2):410-24
All references(113)

Other accession IDs

MGD-MRK-14452