Mus musculus Gene: Smpd1
Summary
InnateDB Gene IDBG-204717.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Smpd1
Gene Name sphingomyelin phosphodiesterase 1, acid lysosomal
Synonyms A-SMase; ASM; aSMase; Zn-SMase
Species Mus musculus
Ensembl Gene ENSMUSG00000037049
Encoded Proteins
sphingomyelin phosphodiesterase 1, acid lysosomal
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000166311:
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:105554360-105558388
Strand Forward strand
Band E3
Transcripts
ENSMUST00000046983 ENSMUSP00000042187
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004767 sphingomyelin phosphodiesterase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0016798 hydrolase activity, acting on glycosyl bonds
Biological Process
GO:0006685 sphingomyelin catabolic process
GO:0023021 termination of signal transduction
GO:0035307 positive regulation of protein dephosphorylation
GO:0042220 response to cocaine
GO:0042493 response to drug
GO:0043065 positive regulation of apoptotic process
GO:0043407 negative regulation of MAP kinase activity
GO:0046513 ceramide biosynthetic process
Cellular Component
GO:0005615 extracellular space
GO:0005764 lysosome
GO:0042599 lamellar body
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Glycosphingolipid metabolism pathway
Metabolism pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
KEGG
Sphingolipid metabolism pathway
Lysosome pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Glycosphingolipid metabolism pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
Glycosphingolipid metabolism pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
KEGG
Sphingolipid metabolism pathway
Lysosome pathway
INOH
PID NCI
Ceramide signaling pathway
TNF receptor signaling pathway
TRAIL signaling pathway
IL2 signaling events mediated by PI3K
FAS (CD95) signaling pathway
Cross-References
SwissProt Q04519
TrEMBL
UniProt Splice Variant
Entrez Gene 20597
UniGene Mm.4628 Mm.490901
RefSeq NM_011421
OMIM
CCDS CCDS21653
HPRD
IMGT
MGI ID MGI:98325
MGI Symbol Smpd1
EMBL AK088147 AK145534 AK145702 AK164167 BC011304 Z14132 Z14252
GenPept AAH11304 BAC40171 BAE26489 BAE26598 BAE37659 CAA78506 CAA78619
RNA Seq Atlas 20597