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Literature summary 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)

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

Protein Variants

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

Organism

EC Number Organism UniProt Comment Textmining
3.1.4.12 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.1.4.12 leukemia cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

EC Number Synonyms Comment Organism
3.1.4.12 neutral sphingomyelinase
-
 Homo sapiens
3.1.4.12 nSMase
-
 Homo sapiens
3.1.4.12 Smpd3
-
 Homo sapiens