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Myotubularin related protein 1

This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: MTM1, CUGBP1, DM2, 4E-BP1, CAN
Papers on MTMR1
Crystallization and preliminary X-ray crystallographic analysis of human myotubularin-related protein 1.
Lee et al., South Korea. In Acta Crystallogr Sect F Struct Biol Commun, Mar 2015
Myotubularin-related protein 1 is a phosphatase that dephosphorylates phospholipids such as phosphatidylinositol 3-phosphate or phosphatidylinositol 3,5-bisphosphate.
Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).
Silvestri et al., Roma, Italy. In Exp Mol Pathol, 2010
an aberrant MTMR1 expression and signs of altered myofiber maturation were documented in both DM1 and in DM2 muscle tissues.
Cooperation of Mtmr8 with PI3K regulates actin filament modeling and muscle development in zebrafish.
Gui et al., Wuhan, China. In Plos One, 2008
BACKGROUND: It has been shown that mutations in at least four myotubularin family genes (MTM1, MTMR1, 2 and 13) are causative for human neuromuscular disorders.
Detection of myotubularin phosphatases activity on phosphoinositides in vitro and ex vivo.
Laporte et al., Illkirch-Graffenstaden, France. In Methods Mol Biol, 2008
In addition, a whole family of myotubularin-related proteins (MTMR1-MTMR13) has been discovered.
Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.
Novelli et al., Roma, Italy. In Gene Expr, 2006
No essential differences were observed in the muscle blind-like gene (MBNL1) and CUG binding protein 1 (CUGBP1) transcript levels as well as in the splicing pattern of the myotubularin-related 1 (MTMR1) gene.
Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy.
Cooper et al., Houston, United States. In Hum Mol Genet, 2005
MCKCUG-BP1 mice have disrupted splicing of three CELF target pre-mRNAs, cardiac troponin T (Tnnt2), myotubularin-related 1 gene (Mtmr1) and the muscle-specific chloride channel (Clcn1), consistent with that observed in DM heart and skeletal muscle.
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
Nishino et al., Kodaira, Japan. In Neuromuscul Disord, 2005
Of particular interest, one boy had a 240 kb deletion in Xq28 encompassing CXorf6 (formerly F18), MTM1 and MTMR1 but was not accompanied by hypogenitalism.
Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment.
Cooper et al., Houston, United States. In Mol Cell Biol, 2005
We created minigenes for two of these genes, the CFTR and MTMR1 genes, and confirmed that ETR-3 regulates their splicing patterns.
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.
Mandel et al., Illkirch-Graffenstaden, France. In Hum Mol Genet, 2003
REVIEW : MTMR1 belongs to the myotubularin family of phosphoinositides phosphatases
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.
Mandel et al., Strasbourg, France. In Hum Mol Genet, 2002
Altered splicing of MTMR1 RNA in the pathological context of congenital myotonic dystrophy
Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.
Dixon et al., Ann Arbor, United States. In J Biol Chem, 2002
Furthermore, the MTM-related phosphatases MTMR1, MTMR3, and MTMR6 also dephosphorylate PI(3)P, suggesting that activity toward this substrate is common to all myotubularin family enzymes.
MTM1 mutations in X-linked myotubular myopathy.
Mandel et al., Illkirch-Graffenstaden, France. In Hum Mutat, 1999
Most point mutations are truncating, but 26% (35/133) are missense mutations affecting residues conserved in the Drosophila ortholog and in the homologous MTMR1 gene.
Identification of functional PDZ domain binding sites in several human proteins.
Jalinot et al., Lyon, France. In Mol Biol Rep, 1999
A two-hybrid screen performed with TIP-15 as bait revealed the presence of a PDZ binding site (PDZ-BS) in the following proteins: Lysyl tRNA synthetase, 6-phosphogluconolactonase (6-GPL), Stress-activated protein kinase 3 (SAPK3), NET-1, Diacylglycerol kinase zeta, MTMR1, MCM7, and hSec8.
Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1).
Rosenthal et al., Heidelberg, Germany. In Genomics, 1999
We describe 225 kb of genomic sequence containing MTM1 and the related gene, MTMR1, which lies 20 kb distal to MTM1.
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