Recombinant Human Myotubularin-related protein 14 (MTMR14)

Uniprot Id

Q8NCE2

Target Species

Human

Target Name

MTMR14

Target Full Name

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14

Target Function

Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.

Target Involvement

Myopathy, centronuclear, 1 (CNM1)

Target Subcellular Location

Cytoplasm. Note=Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus.

Target Protein Families

Protein-tyrosine phosphatase family, Non-receptor class myotubularin subfamily

Target Tissue Specificity

Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas.

Target Synonyms

C3orf29; Egg derived tyrosine phosphatase homolog; FLJ11546; FLJ22405; FLJ46453; FLJ90311; HCV NS5A transactivated protein 4 splice variant A binding protein 1; HCV NS5A-transactivated protein 4 splice variant A-binding protein 1; hEDTP; hJumpy; jumpy; MTMR 14; MTMR14; MTMRE_HUMAN; Myotubularin related protein 14; Myotubularin-related protein 14; NS5ATP4ABP1

Target Background

This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3, 5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.