InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-28683

sphingomyelin phosphodiesterase 1, acid lysosomal

IDBP-584369

sphingomyelin phosphodiesterase 1, acid lysosomal

IDBP-585501

sphingomyelin phosphodiesterase 1, acid lysosomal

IDBP-598676

sphingomyelin phosphodiesterase 1, acid lysosomal

IDBP-602423

sphingomyelin phosphodiesterase 1, acid lysosomal

IDBP-588450

sphingomyelin phosphodiesterase 1, acid lysosomal

IDBP-603093

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

ENSMUSG00000037049

View Gene Order

ENSBTAG00000015628

Not yet available

Pathways

NETPATH

REACTOME

REACT_116105

Glycosphingolipid metabolism pathway

REACT_19323

Sphingolipid metabolism pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_111217

Metabolism pathway

KEGG

hsa00600

Sphingolipid metabolism pathway

hsa04142

Lysosome pathway

INOH

PID NCI

ceramide_pathway

Ceramide signaling pathway

tnfpathway

TNF receptor signaling pathway

trail_pathway

TRAIL signaling pathway

il2_pi3kpathway

IL2 signaling events mediated by PI3K

faspathway

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