Type |
Details |
Score |
Publication |
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 |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
RIKEN Data Curation in Mouse Genome Informatics |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
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 |
|
•
•
•
•
•
|
Publication |
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 |
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
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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|
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•
•
•
•
•
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Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2014 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
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|
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
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•
•
•
•
•
|
Publication |
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 |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
Publication |
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). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
|
|
|
•
•
•
•
•
|
Allele |
Name: |
myotubularin related protein 2; targeted mutation 1, Ueli Suter |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Protein Domain |
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 []. |
|
•
•
•
•
•
|
Protein Domain |
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. |
|
•
•
•
•
•
|
Publication |
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 |
|
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Protein Domain |
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 []. |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
176
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
177
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
245
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
339
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
198
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
204
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
572
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
408
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
456
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
257
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
618
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
668
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
389
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
403
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
415
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1872
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1826
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1867
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Robinson FL |
Year: |
2006 |
Journal: |
Trends Cell Biol |
Title: |
Myotubularin phosphatases: policing 3-phosphoinositides. |
Volume: |
16 |
Issue: |
8 |
Pages: |
403-12 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|