Literature summary for 3.1.3.64 extracted from

Tosch, V.; Rohde, H.M.; Tronchere, H.; Zanoteli, E.; Monroy, N.; Kretz, C.; Dondaine, N.; Payrastre, B.; Mandel, J.L.; Laporte, J.
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy (2006), Hum. Mol. Genet., 15, 3098-3106.

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Application

Application	Comment	Organism
medicine	impairment of hJUMPY function is implicated in some cases of autosomal centronuclear myopathy (CNM)	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
C330S	strong decrease in enzymatic activity (27% of wild type activity), mutant displays a similar localization pattern to the wild-type construct	Homo sapiens
additional information	hJUMPY shows strong homology to the catalytic loop of myotubularin and is highly conserved through evolution	Homo sapiens
R336Q	strong decrease in enzymatic activity (33% of wild type activity), mutant displays a similar localization pattern to the wild-type construct. This mutant is found as a heterozygous missense in a patient suffering from centronuclear myopathy. The Arg336 is conserved in all JUMPY protein orthologs and in all PTP/DSP phosphatases, as it is one of the compulsory amino acids for the enzymatic activity	Homo sapiens
Y462C	decreased enzymatic activity (84% of wild type activity), mutant displays a similar localization pattern to the wild-type construct. This mutant is found as a non-conservative heterozygous Y462C missense in a patient suffering from centronuclear myopathy	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
additional information	transient transfection in COS-1 cells: EYFP-tagged hJUMPY is localized to cytoplasmic reticular structures and displays a concentration near the nucleus, and plasma membrane ruffles also containes hJUMPY. Different variants described (C330S, R336Q and Y462C) display a similar localization pattern to the wild-type construct	Homo sapiens	-	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q8NCE2	-	-

Reaction

Reaction	Comment	Organism	Reaction ID
1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate	hJUMPY has a phosphatidylinositol 3-phosphatase activity and also shares the same substrate specificity as myotubularin	Homo sapiens	a

Source Tissue

Source Tissue	Comment	Organism	Textmining
additional information	hJUMPY is also expressed in several other tissues	Homo sapiens	-
muscle	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
phosphatidylinositol 3,5-bisphosphate + H2O	-	Homo sapiens	phosphatidylinositol 5-phosphate + phosphate	-	?
phosphatidylinositol 3-phosphate + H2O	-	Homo sapiens	phosphatidylinositol + phosphate	-	?

Synonyms

Synonyms	Comment	Organism
hJUMPY	-	Homo sapiens

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Release 2023.1 (January 2023)