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Search results 301 to 375 out of 375 for Mtmr2

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Type Details Score
Publication
28589938 | J:251686
 
First Author: Tasfaout H
Year: 2017
Journal: Nat Commun
Title: Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.
Volume: 8
Pages: 15661
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Publication
9736772 | J:62647
First Author: Laporte J
Year: 1998
Journal: Hum Mol Genet
Title: Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
Volume: 7
Issue: 11
Pages: 1703-12
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Publication
20878767 | J:167389
First Author: Dacci P
Year: 2010
Journal: Glia
Title: Foot pad skin biopsy in mouse models of hereditary neuropathy.
Volume: 58
Issue: 16
Pages: 2005-16
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Publication
23342162 | J:195852
First Author: Xie Q
Year: 2013
Journal: PLoS One
Title: Pax6 interactions with chromatin and identification of its novel direct target genes in lens and forebrain.
Volume: 8
Issue: 1
Pages: e54507
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Publication
- | J:101679
     
First Author: Deltagen Inc
Year: 2005
Journal: MGI Direct Data Submission
Title: NIH initiative supporting placement of Deltagen, Inc. mice into public repositories
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Publication
- | J:157064
     
First Author: University of California, Davis
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the University of California, Davis
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Publication
- | J:68100
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: RIKEN Data Curation in Mouse Genome Informatics
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Publication
- | J:265051
     
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
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Publication
14681479 | J:122989
First Author: Visel A
Year: 2004
Journal: Nucleic Acids Res
Title: GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
Volume: 32
Issue: Database issue
Pages: D552-6
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Publication
- | J:136110
     
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
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Publication
- | J:211773
     
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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Publication
- | J:155856
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Rat to Mouse ISO GO annotation transfer
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Publication
16602821 | J:162220
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
11217851 | J:65060
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
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Publication
14610273 | J:86696
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
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Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Publication
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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Publication
12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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Publication
- | J:164563
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
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Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Allele
Mtmr2<tm1Ueli> | MGI:3612427
Name: myotubularin related protein 2; targeted mutation 1, Ueli Suter
Allele Type: Targeted
Attribute String: Null/knockout
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Publication
15998640 | -
First Author: Robinson FL
Year: 2005
Journal: J Biol Chem
Title: The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.
Volume: 280
Issue: 36
Pages: 31699-707
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Publication
18349142 | J:133391
First Author: Robinson FL
Year: 2008
Journal: Proc Natl Acad Sci U S A
Title: Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
Volume: 105
Issue: 12
Pages: 4916-21
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Protein Domain
IPR030567 | MTMR13
Type: Family
Description: Myotubularin-related protein 13 (MTMR13), also known as SET-binding factor 2 (SBF2), belongs to the myotubularin family. It may function as a guanine nucleotide exchange factor (GEF) that activates Rab28 (a Rab GTPase) []. Loss of MTMR13 leads to the Charcot-Marie-Tooth 4B (CMT4B) peripheral neuropathy, which is a recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system [, ].The family of myotubularin (MTM) phosphoinositide phosphatases includes catalytically inactive members, or pseudophosphatases, which contain inactivating substitutions in the phosphatase domain. MTMR13 is one of them. MTMR13 exists in cells independently as a homodimer, as well as in complex with a homodimer of MTMR2. Association with MTMR2 dramatically increases MTMR2 enzymatic activity [].
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Protein Domain
IPR037823 | MTMR13_PH-GRAM
Type: Domain
Description: Myotubularin-related protein 13 (MTMR13), also known as SET-binding factor 2 (SBF2), belongs to the myotubularin family. It may function as a guanine nucleotide exchange factor (GEF) that activates Rab28 (a Rab GTPase) []. Loss of MTMR13 leads to the Charcot-Marie-Tooth 4B (CMT4B) peripheral neuropathy, which is a recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system [, ].The family of myotubularin (MTM) phosphoinositide phosphatases includes catalytically inactive members, or pseudophosphatases, which contain inactivating substitutions in the phosphatase domain. MTMR13 is one of them. MTMR13 exists in cells independently as a homodimer, as well as in complex with a homodimer of MTMR2. Association with MTMR2 dramatically increases MTMR2 enzymatic activity []. MTMR13 contain an N-terminal DENN domain, a PH-GRAM domain, an inactive PTP domain, a SET interaction domain, a coiled-coil domain, and a C-terminal PH domain. The GRAM domain, found in myotubularins, glucosyltransferases, and other putative membrane-associated proteins, is part of a larger motif with a pleckstrin homology (PH) domain fold. This entry represents the PH-GRAM domain of MTMR13.
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Publication
33653949 | J:304798
 
First Author: Guerrero-Valero M
Year: 2021
Journal: Proc Natl Acad Sci U S A
Title: Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.
Volume: 118
Issue: 10
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Publication
23749797 | -
First Author: Nakhro K
Year: 2013
Journal: Neurology
Title: SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.
Volume: 81
Issue: 2
Pages: 165-73
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Publication
12668758 | -
First Author: Kim SA
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase.
Volume: 100
Issue: 8
Pages: 4492-7
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Publication
21175430 | -
First Author: Mruk DD
Year: 2011
Journal: Biochem J
Title: The myotubularin family of lipid phosphatases in disease and in spermatogenesis.
Volume: 433
Issue: 2
Pages: 253-62
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Protein Domain
IPR030574 | MTMR5
Type: Family
Description: Myotubularin-related protein 5 (MTMR5), also known as SET-binding factor 1 (SBF1), belongs to the myotubularin family and is a pseudophosphatase. It lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. It interacts with MTMR2. Through this interaction, MTMR5 increases the enzymatic activity of MTMR2 and dictates its subcellular localisation []. MTMR2 and MTMR5 are highly expressed in the testis, and could have a role in spermatogenesis []. MTMR5 may also function as a guanine nucleotide exchange factor (GEF) that activates Rab28 (a Rab GTPase) []. Mutations in MTMR5/SBF1 cause Charcot-Marie-Tooth disease type 4B3 (CMT4B3), which is a disorder of the peripheral nervous system [].The myotubularin family constitutes a large group of conserved proteins, with 14 members in humans consisting of myotubularin (MTM1) and 13 myotubularin-related proteins (MTMR1-MTMR13). Orthologues have been found throughout the eukaryotic kingdom, but not in bacteria. MTM1 dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) to phosphatidylinositol and phosphatidylinositol 3,5-bisphosphate [PI(3,5)P2]to phosphatidylinositol 5-monophosphate (PI5P) [, ]. The substrate phosphoinositides (PIs) are known to regulate traffic within the endosomal-lysosomal pathway []. MTMR1, MTMR2, MTMR3, MTMR4, and MTMR6 have also been shown to utilise PI(3)P as a substrate, suggesting that this activity is intrinsic to all active family members. On the other hand, six of the MTM family members encode for catalytically inactive phosphatases. Inactive myotubularin phosphatases contain substitutions in the Cys and Arg residues of the Cys-X5-Arg motif. MTM pseudophosphatases have been found to interact with MTM catalytic phosphatases []. The myotubularin family includes several members mutated in neuromuscular diseases or associated with metabolic syndrome, obesity, and cancer [].
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Publication
20937701 | -
First Author: Yoshimura S
Year: 2010
Journal: J Cell Biol
Title: Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors.
Volume: 191
Issue: 2
Pages: 367-81
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Publication
34718573 | J:326685
First Author: Mammel AE
Year: 2022
Journal: Hum Mol Genet
Title: Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.
Volume: 31
Issue: 8
Pages: 1216-1229
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Publication
27155155 | J:235466
First Author: Mansour R
Year: 2016
Journal: Biochem Biophys Res Commun
Title: Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy.
Volume: 476
Issue: 3
Pages: 167-73
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Protein
F6S251
Organism: Mus musculus/domesticus
Length: 176  
Fragment?: true
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Protein
F6QG63
Organism: Mus musculus/domesticus
Length: 177  
Fragment?: true
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Protein
F7BBM8
Organism: Mus musculus/domesticus
Length: 245  
Fragment?: true
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Protein
F6ZDC5
Organism: Mus musculus/domesticus
Length: 339  
Fragment?: true
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Protein
F6QZ02
Organism: Mus musculus/domesticus
Length: 198  
Fragment?: true
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Protein
Q9Z2D2
Organism: Mus musculus/domesticus
Length: 204  
Fragment?: true
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Protein
Q8BX53
Organism: Mus musculus/domesticus
Length: 572  
Fragment?: false
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Protein
E9Q372
Organism: Mus musculus/domesticus
Length: 408  
Fragment?: false
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Protein
Q80ZM6
Organism: Mus musculus/domesticus
Length: 456  
Fragment?: true
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Protein
F7AWK3
Organism: Mus musculus/domesticus
Length: 257  
Fragment?: true
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Protein
Q69ZA9
Organism: Mus musculus/domesticus
Length: 618  
Fragment?: true
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Protein
Q6NX80
Organism: Mus musculus/domesticus
Length: 668  
Fragment?: false
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Protein
Q8C135
Organism: Mus musculus/domesticus
Length: 389  
Fragment?: true
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Protein
D6RG52
Organism: Mus musculus/domesticus
Length: 403  
Fragment?: false
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Protein
H3BKD9
Organism: Mus musculus/domesticus
Length: 415  
Fragment?: true
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Protein
E9PXF8
Organism: Mus musculus/domesticus
Length: 1872  
Fragment?: false
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Protein
E9Q0D4
Organism: Mus musculus/domesticus
Length: 1826  
Fragment?: false
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Publication
10900271 | -
First Author: Taylor GS
Year: 2000
Journal: Proc Natl Acad Sci U S A
Title: Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate.
Volume: 97
Issue: 16
Pages: 8910-5
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Publication
11001925 | -
First Author: Blondeau F
Year: 2000
Journal: Hum Mol Genet
Title: Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.
Volume: 9
Issue: 15
Pages: 2223-9
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Publication
22578719 | -
First Author: Hnia K
Year: 2012
Journal: Trends Mol Med
Title: Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology.
Volume: 18
Issue: 6
Pages: 317-27
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Protein
Q6ZPE2
Organism: Mus musculus/domesticus
Length: 1867  
Fragment?: false
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Publication
16828287 | -
First Author: Robinson FL
Year: 2006
Journal: Trends Cell Biol
Title: Myotubularin phosphatases: policing 3-phosphoinositides.
Volume: 16
Issue: 8
Pages: 403-12
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Publication
16787938 | -
First Author: Lorenzo O
Year: 2006
Journal: J Cell Sci
Title: Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions.
Volume: 119
Issue: Pt 14
Pages: 2953-9
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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