1lw3

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spinqualitylabelsall models 1lw3, resolution 2.3Å Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image

Crystal Structure of Myotubularin-related protein 2 complexed with phosphate

Contents 1 Overview 2 Disease 3 About this Structure 4 Reference

Overview

Myotubularin-related proteins are a large subfamily of protein tyrosine, phosphatases (PTPs) that dephosphorylate D3-phosphorylated inositol, lipids. Mutations in members of the myotubularin family cause the human, neuromuscular disorders myotubular myopathy and type 4B, Charcot-Marie-Tooth syndrome. The crystal structure of a representative, member of this family, MTMR2, reveals a phosphatase domain that is, structurally unique among PTPs. A series of mutants are described that, exhibit altered enzymatic activity and provide insight into the, specificity of myotubularin phosphatases toward phosphoinositide, substrates. The structure also reveals that the GRAM domain, found in, myotubularin family phosphatases and predicted to occur in approximately, 180 proteins, is part of a larger motif with a pleckstrin homology (PH), domain fold. Finally, the MTMR2 structure will serve as a model for other, members of the myotubularin family and provide a framework for, understanding the mechanism whereby mutations in these proteins lead to, disease.

Disease

Known disease associated with this structure: Charcot-Marie-Tooth disease, type 4B1 OMIM:[603557]

About this Structure

1LW3 is a Single protein structure of sequence from Homo sapiens with PO4 as ligand. Active as Phosphatidylinositol-3-phosphatase, with EC number 3.1.3.64 Full crystallographic information is available from OCA.

Reference

Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome., Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA, Mol Cell. 2003 Dec;12(6):1391-402. PMID:14690594

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