Literature summary for 2.7.1.82 extracted from

Lasho, T.L.; Finke, C.M.; Zblewski, D.; Patnaik, M.; Ketterling, R.P.; Chen, D.; Hanson, C.A.; Tefferi, A.; Pardanani, A.
Novel recurrent mutations in ethanolamine kinase 1 (ETNK1) gene in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia (2015), Blood Cancer J., 5, e275.

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Cloned(Commentary)

Cloned (Comment)	Organism
gene ETNK1, overexpression of wild-type and N244S mutant enzymes in murine Ba/F3 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
D816V	naturally occuring mutation involved in adult systemic mastocytosis, chronic myelomonocytic leukemia, or eosinophilia	Homo sapiens
G245A	naturally occuring mutation involved in adult systemic mastocytosis,with chronic myelomonocytic leukemia and/or eosinophilia, inactive mutant	Homo sapiens
N244K	naturally occuring mutation involved in adult systemic mastocytosis, with chronic myelomonocytic leukemia and/or eosinophilia, inactive mutant	Homo sapiens
N244S	naturally occuring mutation involved in adult systemic mastocytosis, with chronic myelomonocytic leukemia and/or eosinophilia, inactive mutant	Homo sapiens
N244T	naturally occuring mutation involved in adult systemic mastocytosis, with chronic myelomonocytic leukemia and/or eosinophilia, inactive mutant	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9HBU6	gene ETNK1	-

Synonyms

Synonyms	Comment	Organism
ethanolamine kinase 1	-	Homo sapiens
ETNK1	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	somatic enzyme mutations targeted to two contiguous amino acids in the ETNK1 kinase domain are involved in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia, phenotypes, overview	Homo sapiens

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Release 2023.1 (January 2023)