LMPD Database

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LMP002843

UniProt Annotations

Entry Information
Gene Namesphingomyelin phosphodiesterase 1, acid lysosomal
Protein EntryASM_HUMAN
UniProt IDP17405
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; Synonyms=ASM-1; IsoId=P17405-1; Sequence=Displayed; Note=Most abundant (90%).; Name=2; Synonyms=ASM-2; IsoId=P17405-2; Sequence=VSP_000331, VSP_000332; Note=Intermediate abundance (10%).; Name=3; Synonyms=ASM-3; IsoId=P17405-3; Sequence=VSP_000333; Note=Low abundance (<1%).; Name=4; IsoId=P17405-4; Sequence=VSP_046964;
Catalytic ActivitySphingomyelin + H(2)O = N-acylsphingosine + phosphocholine.
DiseaseNiemann-Pick disease A (NPDA) [MIM
DiseaseNiemann-Pick disease B (NPDB) [MIM
FunctionConverts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 and isoform 3 have lost catalytic activity.
InteractionP55210:CASP7; NbExp=6; IntAct=EBI-7095800, EBI-523958;
MiscellaneousThere are two types of sphingomyelinases: ASM (acid), and NSM (neutral).
PolymorphismA common polymorphism arises from a variable number of hexanucleotide repeat sequence within the signal peptide region.
SimilarityBelongs to the acid sphingomyelinase family.
SimilarityContains 1 saposin B-type domain.
Subcellular LocationLysosome.
SubunitMonomer.
Web ResourceName=Mendelian genes sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/SMPD1";