Recombinant Human Sphingomyelin phosphodiesterase(SMPD1)

Code CSB-YP021845HU
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Source Yeast
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Code CSB-EP021845HU
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Source E.coli
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Code CSB-EP021845HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP021845HU
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Source Baculovirus
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Code CSB-MP021845HU
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names SMPD1
Uniprot No. P17405
Alternative Names Acid sphingomyelinase; ASM; ASM_HUMAN; aSMase; NPD; Smpd1; Sphingomyelin phosphodiesterase 1 acid lysosomal; Sphingomyelin phosphodiesterase
Species Homo sapiens (Human)
Expression Region 47-629
Target Protein Sequence LSDS RVLWAPAEAH PLSPQGHPAR LHRIVPRLRD VFGWGNLTCP ICKGLFTAIN LGLKKEPNVA RVGSVAIKLC NLLKIAPPAV CQSIVHLFED DMVEVWRRSV LSPSEACGLL LGSTCGHWDI FSSWNISLPT VPKPPPKPPS PPAPGAPVSR ILFLTDLHWD HDYLEGTDPD CADPLCCRRG SGLPPASRPG AGYWGEYSKC DLPLRTLESL LSGLGPAGPF DMVYWTGDIP AHDVWHQTRQ DQLRALTTVT ALVRKFLGPV PVYPAVGNHE STPVNSFPPP FIEGNHSSRW LYEAMAKAWE PWLPAEALRT LRIGGFYALS PYPGLRLISL NMNFCSRENF WLLINSTDPA GQLQWLVGEL QAAEDRGDKV HIIGHIPPGH CLKSWSWNYY RIVARYENTL AAQFFGHTHV DEFEVFYDEE TLSRPLAVAF LAPSATTYIG LNPGYRVYQI DGNYSGSSHV VLDHETYILN LTQANIPGAI PHWQLLYRAR ETYGLPNTLP TAWHNLVYRM RGDMQLFQTF WFLYHKGHPP SEPCGTPCRL ATLCAQLSAR ADSPALCRHL MPDGSLPEAQ SLWPRPLFC
Protein Length Full Length of Mature Protein
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet Please contact us to get it.

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Target Data

Function Converts sphingomyelin to ceramide
Gene References into Functions
  1. The novel p.P226Q mutation and p.P533L mutation of SMPD1 are associated with Parkinson's disease. PMID: 29896723
  2. the human ASM holoenzyme and product bound structures encompassing all of the functional domains, are presented. PMID: 27725636
  3. This study sheds light on the molecular mechanism of ASMase function. PMID: 27435900
  4. The results suggest an association of Acid sphingomyelinase activation with Respiratory Syncytial Virus infection, a cause for common acute illness. PMID: 29238000
  5. This study identified association between Leu-Ala (Val) repeat variants in SMPD1 and Chinese Han patients with sporadic Parkinson's disease. PMID: 27814975
  6. Parkinson's disease is associated with mutations in SMPD1 gene in Ashkenazi Jews. PMID: 27449028
  7. Through genetic analysis it was determined that genetic variants in SMPD1 increase the risk of Parkinson's Disease in the Chinese Han population. PMID: 26377108
  8. Enzyme activities (acid alpha-glucosidase (GAA), galactocerebrosidase (GALC), glucocerebrosidase (GBA), alpha-galactosidase A (GLA), alpha-iduronidase (IDUA) and sphingomyeline phosphodiesterase-1 (SMPD-1)) were measured on ~43,000 de-identified dried blood spot (DBS) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk PMID: 27238910
  9. This study shows that the ASM alternative splicing pattern could be a biological target with diagnostic relevance and could serve as a novel biomarker for Major depressive disorder PMID: 27866044
  10. stress-induced activation of p38 MAPK and apoptosis in endothelial cells and established the link between the acid sphingomyelinase/ceramide and p38 MAPK pathways. PMID: 28179144
  11. Elevated acid sphingomyelinase (ASM) activity in the lung tumor environment and blood serum of patients with non-small cell lung cancer (NSCLC). PMID: 28883000
  12. this is the largest study on mutation analysis of patients with ASM-deficient Niemann-Pick disease reported in literature and also the first study on the SMPD1 gene mutation spectrum in India. PMID: 27338287
  13. ASM and ceramides, together with STX6 and cholesterol, constitute a new regulatory mechanism for the exit of Met from the Golgi during its biosynthetic route. PMID: 27802163
  14. the p.Ala359Asp mutation causes structural alterations in the hydrophobic environment where ASM is located, decreasing its enzymatic activity PMID: 27659707
  15. Airway cells with lower SMPD1 activity increases neutrophil chemotaxis towards them. PMID: 27865842
  16. The results identify acid sphingomyelinase as a novel target of Lycium Chinense berries to decrease saturated/unsaturated fatty acid sphingomyelin ratio, known to be useful for cell health. Consistent with these data, the berries regulate specifically gene expression to protect cells from apoptosis. PMID: 27756324
  17. ASMase mediated the 50-Hz MF-induced EGFR clustering via ceramide which was produced from hydrolyzation on lipid rafts PMID: 26915736
  18. acid sphingomyelinase-1 PMID: 27352097
  19. ASM is a negative regulator of regulatory T Cell development. PMID: 27512981
  20. We report on an infant with a new frameshift mutation (c.575dupG) of the SMPD1 gene. PMID: 26766671
  21. Seven novel mutations (c.518-519insT, c.562_563insC, c.792Gdel, c.949G>A, c.1487_1499delACCGTGTGTACCA, c.1495T>C and c.1670T>C) of the SMPD1 gene were identified in four patients. Only one fetus had two mutations of the SMPD1 gene of amniocytes PMID: 26851525
  22. although ebeta,5alpha,6beta-triol is more specific than 7-KC, it has been found to be significantly elevated in patients with Niemann-Pick type A, a lysosomal storage disorder caused by mutations in the SMPD1 gene PMID: 26790753
  23. This work provides the first evidence of significantly elevated circulating secretory sphyngomyelinase activity in the first trimester of pregnancy in women who go on to develop preeclampsia. PMID: 26756094
  24. A comprehensive updated review of already reported and newly identified SMPD1 variants of Niemann-Pick Types A and B disease has been presented. (Review) PMID: 26499107
  25. a conserved haplotype and shared 280 Kb region around the SMPD1 gene was observed in the patients analyzed, indicating that the variant originated from a common ancestor PMID: 25920558
  26. ASM activation may be involved in the pathophysiology of Kawasaki disease PMID: 26447086
  27. These results indicate that increased EGR1/3 and ASMase expression play an important role in cellular ceramide increase by RSV treatment. PMID: 26809095
  28. The results of this study suggested that disruptive mutations in SMPD1 constitute a risk factor for parkindon disease. PMID: 26169695
  29. This is the first evidence that supports the possibility that sphingolipid metabolism is affected via the induction of ASMase by the Nrf2 pathway. PMID: 25762726
  30. ASM has a pivotal role in adaptive immune T-cell responses. PMID: 26203857
  31. Patterns of alternatively spliced SMPD1 transcripts are significantly different in patients with systemic inflammatory response syndrome and severe sepsis/septic shock compared to control subjects allowing discrimination of respective disease entity. PMID: 25898364
  32. The mechanisms by which pyocyanin induces the release of mitochondrial ROS and by which ROS induce neutrophil death via mitochondrial acid sphingomyelinase was identified. PMID: 25686490
  33. Results show four novel mutations in SMPD1 in Iranian patients with type A or B Niemann-Pick disease extending the genotypic spectrum of the disease. PMID: 25811928
  34. The relationship between autophagy and A-SMase. [Review] PMID: 25666706
  35. Data suggest ASM (acid sphingomyelinase) activity is regulated by membrane lipids and facilitates cholesterol transfer by NPC2 (Niemann Pick protein type C2); hydrolysis of sphingomyelin by ASM may be crucial for endosomal lipid degradation/sorting. PMID: 25339683
  36. Data suggest invasiveness of Neisseria meningitidis depends on activation of SMPD1 and up-regulation of ceramide release to form ceramide-enriched platforms in cell membrane of endothelium of brain microvessels upon attachment of N. meningitidis. PMID: 24945304
  37. L-ASM activity was significantly lower in subjects homozygous for the minor A allele but not different between allergic and non-allergic subjects PMID: 24977483
  38. results provide the mechanism for dysferlin-mediated repair of skeletal muscle sarcolemma and identify ASM as a potential therapy for dysferlinopathy PMID: 24967968
  39. These results reveal a novel mechanism of ASM pathogenesis in Alzheimer's disease. PMID: 25049335
  40. The lysosomal enzyme coding genes SMPD1 which are associated with a 9-fold increased risk of Parkinson disease. PMID: 24262184
  41. seven novel SMPD1 mutations and new inside into genotype/phenotype correlations in Niemann-Pick disease PMID: 23252888
  42. Serum acid sphingomyelinase is upregulated in chronic hepatitis C infection and non-alcoholic fatty liver disease. PMID: 24769340
  43. liver samples from patients with alcoholic hepatitis exhibited increased expression of ASMase, StARD1, and ER stress markers PMID: 23707365
  44. Rare SMPD1 variant (p.R591C) increases the risk of Parkinson disease. PMID: 23871123
  45. Mutational analysis demonstrated the siblings are compound heterozygotes (V112M and H554Y). PMID: 22367733
  46. the spectrum of SMPD1 gene mutations in Turkish Niemann-Pick disease patients PMID: 23618813
  47. Role of the acid sphingomyelinase (Asm)-ceramide system as a target for antidepressants. PMID: 23770692
  48. Chinese population may have a comparably high incidence of sphingomyelinase-deficient Niemann-Pick disease type A. This study has identified some novel genotype and phenotype correlations in this rare and devastating disorder PMID: 23356216
  49. The SMPD1 p.L302P mutation is a novel risk factor for Parkinson disease PMID: 23535491
  50. Hydrogen peroxide, a primary form of reactive oxygen species in mammalian cells, induces very rapid translocation of ASM and formation of ceramide-enriched membrane platforms in the plasma membrane of Jurkat T cells. PMID: 22890197

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Involvement in disease Niemann-Pick disease A (NPDA); Niemann-Pick disease B (NPDB)
Subcellular Location Lysosome, Secreted
Protein Families Acid sphingomyelinase family
Database Links

HGNC: 11120

OMIM: 257200

KEGG: hsa:6609

STRING: 9606.ENSP00000340409

UniGene: Hs.498173

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