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Literature summary for 3.1.4.12 extracted from

  • Kim, W.J.; Okimoto, R.A.; Purton, L.E.; Goodwin, M.; Haserlat, S.M.; Dayyani, F.; Sweetser, D.A.; McClatchey, A.I.; Bernard, O.A.; Look, A.T.; Bell, D.W.; Scadden, D.T.; Haber, D.A.
    Mutations in the neutral sphingomyelinase gene SMPD3 implicate the ceramide pathway in human leukemias (2008), Blood, 111, 4716-4722.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Mus musculus osteosarcoma cells (F4328) Homo sapiens

Protein Variants

Protein Variants Comment Organism
C617Y the mutation is associated with leukemia Homo sapiens
D194N the mutation is associated with leukemia Homo sapiens
D358G the mutation is associated with leukaemia and causes protein instability Homo sapiens
D51N the mutation is associated with leukemia Homo sapiens
E499G the mutation is associated with leukemia Homo sapiens
G195E the mutation is associated with leukemia Homo sapiens
G248S the mutation is associated with leukemia Homo sapiens
R246C the mutation is associated with leukemia Homo sapiens
R336C the mutation is associated with leukemia Homo sapiens
V131L the mutation is associated with leukemia Homo sapiens
V507I the mutation is associated with leukemia Homo sapiens
Y43H the mutation is associated with leukemia Homo sapiens
Y95F the mutation is associated with leukemia Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
leukemia cell
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
sphingomyelin + H2O
-
Homo sapiens N-acylsphingosine + choline phosphate
-
?

Synonyms

Synonyms Comment Organism
neutral sphingomyelinase
-
Homo sapiens
nSMase
-
Homo sapiens
Smpd3
-
Homo sapiens