Homo sapiens Gene: SMPD1
Summary
InnateDB Gene IDBG-28681.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SMPD1
Gene Name sphingomyelin phosphodiesterase 1, acid lysosomal
Synonyms ASM; ASMASE; NPD;
Species Homo sapiens
Ensembl Gene ENSG00000166311
Encoded Proteins
sphingomyelin phosphodiesterase 1, acid lysosomal
sphingomyelin phosphodiesterase 1, acid lysosomal
sphingomyelin phosphodiesterase 1, acid lysosomal
sphingomyelin phosphodiesterase 1, acid lysosomal
sphingomyelin phosphodiesterase 1, acid lysosomal
sphingomyelin phosphodiesterase 1, acid lysosomal
sphingomyelin phosphodiesterase 1, acid lysosomal
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 11:6390431-6394998
Strand Forward strand
Band p15.4
Transcripts
ENST00000342245 ENSP00000340409
ENST00000533196
ENST00000530395 ENSP00000431479
ENST00000534405 ENSP00000434353
ENST00000527275 ENSP00000435350
ENST00000533123 ENSP00000435950
ENST00000531303 ENSP00000432625
ENST00000526280 ENSP00000436278
ENST00000531336
ENST00000532367
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated
Total 16 [view]
Protein-Protein 13 [view]
Protein-DNA 2 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
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:0006665 sphingolipid metabolic process
GO:0006684 sphingomyelin metabolic process
GO:0006685 sphingomyelin catabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0007165 signal transduction
GO:0007399 nervous system development
GO:0008152 metabolic process
GO:0008219 cell death
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:0044281 small molecule metabolic process
GO:0046513 ceramide biosynthetic process
Cellular Component
GO:0005615 extracellular space
GO:0042599 lamellar body
GO:0043202 lysosomal lumen
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Glycosphingolipid metabolism pathway
Metabolism pathway
KEGG
Sphingolipid metabolism pathway
Lysosome pathway
INOH
PID BIOCARTA
Phospholipids as signalling intermediaries [Biocarta view]
Ceramide signaling pathway [Biocarta view]
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
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.498173 Hs.622566 Hs.726823
RefSeq NM_000543 NM_001007593 XM_005253075
HUGO
OMIM
CCDS CCDS31409 CCDS44531
HPRD 06353
IMGT
EMBL
GenPept
RNA Seq Atlas