Myotubularin

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

Myotubularin domain represents a region within eukaryotic myotubularin-related proteins that is sometimes found with 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

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

References

  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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=166368. 
  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

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


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  • Myotubularin 1 — Identifiers Symbols MTM1; CNM; MTMX; XLMTM External IDs OMIM: …   Wikipedia

  • myotubularin — noun A phosphatase that dephosphorylates phosphatidylinositols …   Wiktionary

  • MTMR2 — Myotubularin related protein 2, also known as MTMR2, is a human gene.cite web | title = Entrez Gene: MTMR2 myotubularin related protein 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=8898| accessdate = ] …   Wikipedia

  • MTMR1 — Myotubularin related protein 1, also known as MTMR1, is a human gene.cite web | title = Entrez Gene: MTMR1 myotubularin related protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=8776| accessdate = ] …   Wikipedia

  • MTMR6 — Myotubularin related protein 6, also known as MTMR6, is a human gene.cite web | title = Entrez Gene: MTMR6 myotubularin related protein 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=9107| accessdate = ] …   Wikipedia

  • MTMR9 — Myotubularin related protein 9, also known as MTMR9, is a human gene.cite web | title = Entrez Gene: MTMR9 myotubularin related protein 9| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=66036| accessdate =… …   Wikipedia

  • MTMR3 — Myotubularin related protein 3, also known as MTMR3, is a human gene.cite web | title = Entrez Gene: MTMR3 myotubularin related protein 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=8897| accessdate = ] …   Wikipedia

  • Centronuclear myopathy — Classification and external resources Muscle biopsy from the quadriceps taken at 3 months of age from a girl with X linked centronuclear ( myotubular ) myopathy due to a mutation in the myotubularin (MTM1) gene and extremely skewed X inactivation …   Wikipedia

  • SBF1 — SET binding factor 1, also known as SBF1, is a human gene.cite web | title = Entrez Gene: SBF1 SET binding factor 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=6305| accessdate = ] PBB Summary section… …   Wikipedia

  • GRAM domain — Pfam box Symbol = GRAM Name = width =250 caption = Myotubularin related protein 2 Pfam= PF02893 InterPro= IPR004182 SMART= GRAM Prosite = SCOP = 1lw3 TCDB = OPM family= 176 OPM protein= 1zvr PDB=PDB3|1lw3A:75 139 PDB3|1m7rA:75 139 PDB3|1zsqA:75… …   Wikipedia

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