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Literature summary for 3.1.4.12 extracted from

  • Toth, B.; Erdoes, M.; Szekely, A.; Ritli, L.; Bagossi, P.; Suemegi, J.; Marodi, L.
    Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing Niemann-Pick disease (2012), JIMD Rep., 3, 125-129.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
gene SMPD1, genotyping, expression of wild-type and mutant enzymes in COS-7 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
F572L naturally occuring mutation, reconstructed by site-directed mutagenesis, involved in acid sphingomyelinase deficiency and subsequently in Niemann-Pick disease, marked deficiency of enzyme activity consistent with the disease phenotype in cells homoallelic for the mutation Homo sapiens
G247D naturally occuring mutation, reconstructed by site-directed mutagenesis, involved in acid sphingomyelinase deficiency and subsequently in Niemann-Pick disease, marked deficiency of enzyme activity consistent with the disease phenotype in cells homoallelic for the mutation Homo sapiens
S248R naturally occuring mutation, reconstructed by site-directed mutagenesis, involved in acid sphingomyelinase deficiency and subsequently in Niemann-Pick disease, marked deficiency of enzyme activity consistent with the disease phenotype in cells homoallelic for the mutation Homo sapiens
W391G naturally occuring mutation, reconstructed by site-directed mutagenesis, involved in acid sphingomyelinase deficiency and subsequently in Niemann-Pick disease, marked deficiency of enzyme activity consistent with the disease phenotype in cells homoallelic for the mutation Homo sapiens

General Stability

General Stability Organism
the wild-type SMPD1 protein has a half-life of over 12 h. The half-life for the F572L protein is shorter, between 4 h and 8 h. The G247D mutation dramatically alters the stability of the mutant protein with a half-life of 2 h or less Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P17405 gene SMPD1
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Synonyms

Synonyms Comment Organism
sphingomyelin phosphodiesterase 1
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Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
assay at Homo sapiens

General Information

General Information Comment Organism
malfunction Niemann-Pick disease types A and B are autosomal recessive lysosomal storage disorders caused by acid sphingomyelinase deficiency due to mutation in the sphingomyelin phosphodiesterase 1 gene, clinical manifestations, overview Homo sapiens