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Literature summary for 3.1.4.12 extracted from

  • Gorelik, A.; Illes, K.; Heinz, L.X.; Superti-Furga, G.; Nagar, B.
    Crystal structure of mammalian acid sphingomyelinase (2016), Nat. Commun., 7, 12196 .
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Sf9 cells Mus musculus

Crystallization (Commentary)

Crystallization (Comment) Organism
sitting drop vapor diffusion method, using 0.2M lithium acetate and 20% (w/v) PEG 3350 Mus musculus

Protein Variants

Protein Variants Comment Organism
F388R the mutant shows reduced activity with sphingomyelin and bis(4-nitrophenyl)phosphate as substrate as compared to the wild type enzyme Mus musculus
H280A inactive with sphingomyelin and bis(4-nitrophenyl)phosphate as substrate Mus musculus
H317A inactive with sphingomyelin as substrate, but active with bis(4-nitrophenyl)phosphate as substrate as compared to the wild type enzyme Mus musculus
L391R the mutant shows about 20% activity with sphingomyelin and about 50% activity with bis(4-nitrophenyl)phosphate as substrate, as compared to the wild type enzyme Mus musculus
P321E the mutant shows reduced activity with sphingomyelin and almost no activity with bis(4-nitrophenyl)phosphate as substrate, compared to the wild type enzyme Mus musculus
V128E the mutant shows about 20% activity with sphingomyelin and about 70% activity with bis(4-nitrophenyl)phosphate as substrate as compared to the wild type enzyme Mus musculus
V143R the mutant shows about 5% activity with sphingomyelin and about 65% activity with bis(4-nitrophenyl)phosphate as substrate as compared to the wild type enzyme Mus musculus
W283N the mutant shows reduced activity with sphingomyelin and bis(4-nitrophenyl)phosphate as substrate as compared to the wild type enzyme Mus musculus

Inhibitors

Inhibitors Comment Organism Structure
1-aminodecylidene bis-phosphonic acid
-
Mus musculus

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
Mus musculus 5764
-

Metals/Ions

Metals/Ions Comment Organism Structure
Zn2+ contains two zinc ions Mus musculus

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
sphingomyelin + H2O Mus musculus
-
ceramide + phosphocholine
-
?

Organism

Organism UniProt Comment Textmining
Mus musculus Q04519
-
-

Posttranslational Modification

Posttranslational Modification Comment Organism
glycoprotein the protein has five sites of N-glycosylation Mus musculus

Purification (Commentary)

Purification (Comment) Organism
Ni-NTA resin column chromatography and Superdex 200 gel filtration Mus musculus

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
bis(4-nitrophenyl)phosphate + H2O
-
Mus musculus ?
-
?
sphingomyelin + H2O
-
Mus musculus ceramide + phosphocholine
-
?

Subunits

Subunits Comment Organism
? x * 60000, SDS-PAGE Mus musculus

Synonyms

Synonyms Comment Organism
acid sphingomyelinase
-
Mus musculus
ASM
-
Mus musculus
aSMase
-
Mus musculus
SMPD1
-
Mus musculus

General Information

General Information Comment Organism
malfunction inactivating enzyme mutations cause Niemann-Pick disease Mus musculus