catalog number :
MBS6009542
products full name :
SMPD1, ID
products short name :
[SMPD1]
products name syn :
[Acid Sphingomyelinase; aSMase; Sphingomyelin Phosphodiesterase 1]
other names :
[sphingomyelin phosphodiesterase isoform 2; Sphingomyelin phosphodiesterase; sphingomyelin phosphodiesterase; acid sphingomyelinase; sphingomyelin phosphodiesterase 1, acid lysosomal; Acid sphingomyelinase]
other gene names :
[SMPD1; SMPD1; ASM; NPD; ASMASE; ASM; aSMase]
uniprot entry name :
ASM_HUMAN
specificity :
Recognizes human SMPD1. In direct ELISAs, no cross-reactivity with recombinant human SMPD3 and recombinant mouse SMPD1 is observed.
purity :
Purified by Protein A affinity chromatography.
form :
Supplied as a lyophilized powder from PBS, pH 7.4, 5% trehalose. Reconstitute with 200ul sterile PBS.
concentration :
0.5mg/ml (after reconstitutrion)
storage stability :
Lyophilized powder may be stored at -20 degree C. Stable for 12 months at -20 degree C. Reconstitute with sterile PBS. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Reconstituted product is stable for 12 months at -20 degree C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.
tested application :
Direct ELISA (EL/EIA), Immunoprecipitation (IP), Neutralization
app notes :
Immunoprecipitation: 25ug/ml using conditioned cell culture medium spiked with Recombinant human SMPD1 Neutralization: Measured by its ability to neutralize Recombinant Human SMPD1 (0.5ug/ml) cleavage of the substrate 2-N-Hexadecanoylamino- 4-nitrophenylphosphorylcholine (HNPPC, 250uM). The Neutralization Dose (ND50) is typically 3.0ug/ml. Optimal dilutions to be determined by the researcher.
other info1 :
Immunogen: Recombinant corresponding to human SMPD1 expressed in CHO cells (NP_000534).
other info2 :
Hybridoma: Myeloma cells with B cells from Balb/c mice.
products categories :
Antibodies; Abs to Enzymes, Phospholipase
products description :
SMPD1 (Sphingomyelin phosphodiesterase 1; also ASM) is a 70-72kD member of the sphingomyelinase family of enzymes. It is a monomeric lysosomal enzyme that converts sphingomyelin (a plasma membrane lipid) into ceramide through the removal of phosphorylcholine. This generates second messenger components that participate in signal transduction. Mature human SMPD1 is 583aa in length. It contains one saposin B-type domain (aa85-169) that likely interacts with sphingomyelin, and a catalytic region (aa 267-363). There are multiple isoforms. One is 57kD in size and results from proteolytic cleavage between Pro179-Pro197. Three others show aa substitutions; a 56aa substitution for (aa1-361), a two aa substitution for (aa363-629), a12aa substitution for (aa363-418). Over (aa62-628), human SMPD1 is 86% aa identical to mouse SMPD1.
ncbi gb acc num :
NM_001007593.2
ncbi pathways :
Ceramide Signaling Pathway (138023); FAS (CD95) Signaling Pathway (138081); Glycosphingolipid Metabolism Pathway (530751); IL2 Signaling Events Mediated By PI3K Pathway (137938); Lysosome Pathway (99052); Lysosome Pathway (96865); Metabolism Pathway (477135); Metabolism Of Lipids And Lipoproteins Pathway (160976); Ovarian Infertility Genes Pathway (198801); Sphingolipid Metabolism Pathway (82994)
ncbi 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]
uniprot summary :
SMPD1: Converts 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. Monomer. Belongs to the acid sphingomyelinase family. 3 isoforms of the human protein are produced by alternative splicing. Protein type: Phosphodiesterase; Lipid Metabolism - sphingolipid; EC 3.1.4.12. Chromosomal Location of Human Ortholog: 11p15.4-p15.1. Cellular Component: lysosomal lumen; extracellular space; lysosome; plasma membrane; endosome; lamellar body. Molecular Function: protein binding; sphingomyelin phosphodiesterase activity; hydrolase activity, acting on glycosyl bonds. Biological Process: response to drug; nervous system development; negative regulation of MAP kinase activity; sphingolipid metabolic process; sphingomyelin metabolic process; positive regulation of apoptosis; ceramide biosynthetic process; glycosphingolipid metabolic process; sphingomyelin catabolic process; signal transduction; response to cocaine; positive regulation of protein amino acid dephosphorylation. Disease: Niemann-pick Disease, Type B; Niemann-pick Disease, Type A