Myotubularin

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Myotubularin-related
PDB 1m7r EBI.jpg
Structure of a phosphoinositide phosphatase.[1]
Identifiers
Symbol Myotub-related
Pfam PF06602
InterPro IPR010569
SCOP 1m7r
SUPERFAMILY 1m7r
OPM protein 1zvr

Myotubularin domain represents a region within eukaryotic myotubularin-related proteins that is sometimes found with the GRAM domain IPR004182. Myotubularin is a dual-specific lipid phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bi-phosphate.[2] Mutations in gene encoding myotubularin-related proteins have been associated with disease.[3]

Human proteins containing this domain[edit]

MTM1; MTMR1; MTMR10; MTMR11; MTMR12; MTMR2; MTMR3; MTMR4; MTMR6; MTMR7; MTMR8; MTMR9; SBF1; SBF2;

References[edit]

  1. ^ Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA (December 2003). "Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome". Mol. Cell 12 (6): 1391–402. doi:10.1016/S1097-2765(03)00486-6. PMID 14690594. 
  2. ^ Majerus PW, Nandurkar HH, Layton M, Laporte J, Selan C, Corcoran L, Caldwell KK, Mochizuki Y, Mitchell CA (2003). "Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP". Proc. Natl. Acad. Sci. U.S.A. 100 (15): 8660–8665. doi:10.1073/pnas.1033097100. PMC 166368. PMID 12847286. 
  3. ^ Suter U, Berger P, Bonneick S, Willi S, Wymann M (2002). "Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1". Hum. Mol. Genet. 11 (13): 1569–1579. doi:10.1093/hmg/11.13.1569. PMID 12045210. 

External links[edit]

This article incorporates text from the public domain Pfam and InterPro IPR010569