Sphingomyelin phosphodiesterase 1

Sphingomyelin phosphodiesterase 1 (SMPD1), also known as acid sphingomyelinase (ASM), is an enzyme that in humans is encoded by the SMPD1 gene.

SMPD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5JG8
Identifiers
Aliases	SMPD1, ASM, ASMASE, NPD, Sphingomyelin phosphodiesterase 1
External IDs	OMIM: 607608; MGI: 98325; HomoloGene: 457; GeneCards: SMPD1; OMA:SMPD1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11p15.4 Start 6,390,440 bp[1] End 6,394,998 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 E3|7 55.9 cM Start 105,203,567 bp[2] End 105,207,596 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in beta cell stromal cell of endometrium apex of heart right lobe of liver anterior pituitary tendon of biceps brachii right hemisphere of cerebellum right auricle of heart mucosa of transverse colon left ventricle Top expressed in choroid plexus of fourth ventricle gastrula interventricular septum CA3 field entorhinal cortex perirhinal cortex myocardium of ventricle cardiac muscle tissue of left ventricle Epithelium of choroid plexus decidua More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sphingomyelin phosphodiesterase activity hydrolase activity, acting on glycosyl bonds protein binding hydrolase activity metal ion binding zinc ion binding acid sphingomyelin phosphodiesterase activity phosphoric diester hydrolase activity Cellular component endosome plasma membrane lamellar granule lysosomal lumen lysosome extracellular exosome extracellular region extracellular space Biological process termination of signal transduction glycosphingolipid metabolic process positive regulation of protein dephosphorylation ceramide biosynthetic process nervous system development sphingomyelin catabolic process negative regulation of MAP kinase activity positive regulation of apoptotic process metabolism signal transduction sphingomyelin metabolic process response to cocaine ceramide metabolic process cholesterol metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6609 20597 Ensembl ENSG00000166311 ENSMUSG00000037049 UniProt P17405 Q04519 RefSeq (mRNA) NM_000543 NM_001007593 NM_001318087 NM_001318088 NM_001365135 NM_011421 RefSeq (protein) NP_000534 NP_001007594 NP_001305016 NP_001305017 NP_001352064 NP_035551 Location (UCSC) Chr 11: 6.39 – 6.39 Mb Chr 7: 105.2 – 105.21 Mb PubMed search [3] [4]
Wikidata
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Sphingomyelin phosphodiesterase 1 belongs to the sphingomyelin phosphodiesterase family.^[5]

Clinical significance

Defects in the SMPD1 gene cause Niemann–Pick disease, SMPD1-associated.^[5]

A mutation from leucine to proline at amino acid residue 302 encoded by the SMPD1 gene was identified by Gan-Or et al. (2013) as a risk factor for Parkinson disease.^[6]