Property Summary

NCBI Gene PubMed Count 115
Grant Count 206
R01 Count 131
Funding $26,149,744.2
PubMed Score 983.39
PubTator Score 369.43

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma -3.700 0.000
glioblastoma 1.100 0.001
medulloblastoma, large-cell -1.300 0.000
pancreatic ductal adenocarcinoma liver m... -2.069 0.001
ovarian cancer 1.200 0.000

Synonym

Accession P17405 A8K8M3 E9PKS3 P17406 Q13811 Q16837 Q16841
Symbols ASM
NPD
ASMASE

Gene

PANTHER Protein Class (2)

PDB

5I81   5I8R   5JG8  

MLP Assay (3)

AID Type Active / Inconclusive / Inactive Description
504937 confirmatory 20 / 2518 / 335597 Inhibitors of Secretory Acid Sphingomyelinase (S-ASM): qHTS
504940 summary 0 / 0 / 0 Inhibitors of Secretory Acid Sphingomyelinase (S-ASM): Summary
624178 confirmatory 0 / 0 / 0 qHTS for Inhibitors of Human Acid Sphingomyelinase Assay: Native Substrate

Gene RIF (90)

PMID Text
26809095 These results indicate that increased EGR1/3 and ASMase expression play an important role in cellular ceramide increase by RSV treatment.
26756094 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.
26499107 A comprehensive updated review of already reported and newly identified SMPD1 variants of Niemann-Pick Types A and B disease has been presented. (Review)
26447086 ASM activation may be involved in the pathophysiology of Kawasaki disease
26203857 ASM has a pivotal role in adaptive immune T-cell responses.
26169695 The results of this study suggested that disruptive mutations in SMPD1 constitute a risk factor for parkindon disease.
25920558 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
25898364 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.
25811928 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.
25762726 This is the first evidence that supports the possibility that sphingolipid metabolism is affected via the induction of ASMase by the Nrf2 pathway.
More...

AA Sequence

MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALSDSRVLWAPAEAHPLSPQGHPAR      1 - 70
LHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLFED     71 - 140
DMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLHWD    141 - 210
HDYLEGTDPDCADPLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIP    211 - 280
AHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWE    281 - 350
PWLPAEALRTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGDKV    351 - 420
HIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIG    421 - 490
LNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRM    491 - 560
RGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLSARADSPALCRHLMPDGSLPEAQSLWPRPLFC     561 - 629
//

Text Mined References (122)

PMID Year Title
27659707 2016 Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency.
26809095 2016 Resveratrol-induced transcriptional up-regulation of ASMase (SMPD1) of human leukemia and cancer cells.
26756094 2016 Increased secretory sphingomyelinase activity in the first trimester of pregnancy in women later developing preeclampsia: a nested case-control study.
26499107 2016 SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
26447086 2015 Elevation of Serum Acid Sphingomyelinase Activity in Acute Kawasaki Disease.
26203857 2015 Role of acid sphingomyelinase bioactivity in human CD4+ T-cell activation and immune responses.
26169695 2015 The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews.
26084044 2015 Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.
25920558 2016 Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
25898364 2015 Alternative splicing of SMPD1 in human sepsis.
More...