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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 western clawed frog; 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; chr11:6390331-6394998 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human SMPD1
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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)   
Interactions
Smpd1 interacts with 65 markers (Mir1a-1, Mir1a-2, Mir15a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process ceramide biosynthetic process, metabolic process, ...
Component endosome, extracellular space, ...
Function hydrolase activity, hydrolase activity, acting on glycosyl bonds, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (218)    Tissues (96)    Images (46)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 218
cDNA source data(111)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(117) Genomic(4) cDNA(111) Primer pair(2)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000037049 (Evidence)
Entrez Gene20597 (Evidence)
UniGene4628
DFCITC1573125
DoTSDT.101189094, DT.101372869, DT.101390685, DT.533897, DT.94288977, DT.94289036, DT.97371045
NIA Mouse Gene IndexU008564
EC3.1.4.12
Consensus CDS ProjectCCDS21653.1
International Mouse Knockout Project StatusSmpd1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000037049 Ensembl Gene Model | MGI Sequence Detail 4029 C57BL/6J ±  kb
transcript ENSMUST00000046983 Ensembl | MGI Sequence Detail 2411 Not Applicable 
polypeptide ENSMUSP00000042187 Ensembl | MGI Sequence Detail 627 Not Applicable 

For the selected sequences
All sequences(100) RefSeq(2) UniProt(7)
Polymorphisms
SNPs within 2kb(41 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:214721 Lee JK, et al., Acid sphingomyelinase modulates the autophagic process by controlling lysosomal biogenesis in Alzheimer's disease. J Exp Med. 2014 Jul 28;211(8):1551-70
All references(122)
Disease annotation references (7)
Other
accession IDs
MGD-MRK-14452

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory