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Search results 1 to 100 out of 301 for Mtmr1

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0.053s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: chimpanzee
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Domain
Type: Family
Description: MTMR1 (myotubularin-related protein 1) is a lipid phosphatase that uses phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,5-bisphosphate [PtdIns(3,5)P2]as substrates []. MTMR1 is abnormally expressed in myotonic dystrophy type1 (DM1) and in myotonic dystrophy type 2 (DM2), in correlation with muscle pathological features [].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: Santoro M
Year: 2010
Journal: Exp Mol Pathol
Title: 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).
Volume: 89
Issue: 2
Pages: 158-68
Protein
Organism: Mus musculus/domesticus
Length: 149  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 123  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 187  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 132  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 132  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 140  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 309  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 121  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 669  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 671  
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: 386  
Fragment?: true
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
Publication
First Author: Buj-Bello A
Year: 2002
Journal: Hum Mol Genet
Title: Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.
Volume: 11
Issue: 19
Pages: 2297-307
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
GXD Expression      
Probe: MGI:2651644
Assay Type: RT-PCR
Annotation Date: 2003-03-19
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684621
Stage: TS21
Assay Id: MGI:2651650
Age: embryonic day 13.5
Specimen Label: E13.5 Liver
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:2651644
Assay Type: RT-PCR
Annotation Date: 2003-03-19
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:2651650
Age: postnatal adult
Specimen Label: Adult Liver
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:2651644
Assay Type: RT-PCR
Annotation Date: 2003-03-19
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672821
Stage: TS21
Assay Id: MGI:2651650
Age: embryonic day 13.5
Specimen Label: E13.5 Lung
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:2651644
Assay Type: RT-PCR
Annotation Date: 2003-03-19
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:2651650
Age: postnatal adult
Specimen Label: Adult Lung
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:2651644
Assay Type: RT-PCR
Annotation Date: 2003-03-19
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610521
Stage: TS21
Assay Id: MGI:2651650
Age: embryonic day 13.5
Specimen Label: E13.5 Heart
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:2651644
Assay Type: RT-PCR
Annotation Date: 2003-03-19
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:2651650
Age: postnatal adult
Specimen Label: Adult Heart
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:2651644
Assay Type: RT-PCR
Annotation Date: 2003-03-19
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689421
Stage: TS21
Assay Id: MGI:2651650
Age: embryonic day 13.5
Specimen Label: E13.5 Brain
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:2651644
Assay Type: RT-PCR
Annotation Date: 2003-03-19
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:2651650
Age: postnatal adult
Specimen Label: Adult Brain
Detected: true
Specimen Num: 8
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: brain - total
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: cortex
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1755028
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: brain medulla
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1778728
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: cerebellum
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267828
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: brainstem
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3280928
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: olfactory bulb
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757728
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: spinal cord
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1619828
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: eye
Detected: true
Specimen Num: 8
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1915328
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: harderian gland
Detected: true
Specimen Num: 9
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: heart
Detected: true
Specimen Num: 10
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: lung
Detected: true
Specimen Num: 11
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: liver
Detected: true
Specimen Num: 12
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1750328
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: pancreas
Detected: true
Specimen Num: 13
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: kidney
Detected: true
Specimen Num: 14
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: spleen
Detected: true
Specimen Num: 15
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876828
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: thymus
Detected: true
Specimen Num: 16
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3552328
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: lymph nodes
Detected: true
Specimen Num: 17
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3276028
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: bone marrow
Detected: true
Specimen Num: 18
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752528
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: skin
Detected: true
Specimen Num: 19
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1720228
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: gallbladder
Detected: true
Specimen Num: 20
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1832128
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: urinary bladder
Detected: true
Specimen Num: 21
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3599828
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: pituitary gland
Detected: true
Specimen Num: 22
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1842628
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: adrenal gland
Detected: true
Specimen Num: 23
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1775128
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: salivary gland
Detected: true
Specimen Num: 24
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598828
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: skeletal muscle
Detected: true
Specimen Num: 25
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1718528
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: tongue
Detected: true
Specimen Num: 26
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1702128
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: stomach
Detected: true
Specimen Num: 27
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3283428
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: small intestine
Detected: true
Specimen Num: 28
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1925228
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: large intestine
Detected: true
Specimen Num: 29
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3519728
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: cecum
Detected: true
Specimen Num: 30
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: testis
Detected: true
Specimen Num: 31
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Male
Emaps: EMAPS:1929028
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: epididymis
Detected: true
Specimen Num: 32
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Male
Emaps: EMAPS:1918028
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: seminal vesicle
Detected: true
Specimen Num: 33
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Male
Emaps: EMAPS:2979428
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: coagulating gland
Detected: true
Specimen Num: 34
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Male
Emaps: EMAPS:1928728
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: prostate gland
Detected: true
Specimen Num: 35
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Female
Emaps: EMAPS:1796228
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: ovary
Detected: true
Specimen Num: 36
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Female
Emaps: EMAPS:2991528
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: uterus
Detected: true
Specimen Num: 37
GXD Expression      
Probe: MGI:3625322
Assay Type: RT-PCR
Annotation Date: 2006-06-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3592628
Stage: TS28
Assay Id: MGI:3625323
Age: postnatal
Specimen Label: white fat
Detected: true
Specimen Num: 38
GXD Expression    
Probe: MGI:3831760
Assay Type: RT-PCR
Annotation Date: 2009-02-15
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610522
Stage: TS22
Assay Id: MGI:3831833
Age: embryonic day 14.0
Image: 1
Specimen Label: E14
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:3831760
Assay Type: RT-PCR
Annotation Date: 2009-02-15
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610526
Stage: TS26
Assay Id: MGI:3831833
Age: embryonic day 18.0
Image: 1
Specimen Label: E18
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:3831760
Assay Type: RT-PCR
Annotation Date: 2009-02-15
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610527
Stage: TS27
Assay Id: MGI:3831833
Age: postnatal day 1
Image: 1
Specimen Label: PN1
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:3831760
Assay Type: RT-PCR
Annotation Date: 2009-02-15
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610527
Stage: TS27
Assay Id: MGI:3831833
Age: postnatal day 3
Image: 1
Specimen Label: PN3
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:3831760
Assay Type: RT-PCR
Annotation Date: 2009-02-15
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:3831833
Age: postnatal month 3
Image: 1
Specimen Label: Adult
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:3831769
Assay Type: RT-PCR
Annotation Date: 2009-02-15
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610522
Stage: TS22
Assay Id: MGI:3831843
Age: embryonic day 14.0
Image: 1
Specimen Label: E14
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:3831769
Assay Type: RT-PCR
Annotation Date: 2009-02-15
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610526
Stage: TS26
Assay Id: MGI:3831843
Age: embryonic day 18.0
Image: 1
Specimen Label: E18
Detected: true
Specimen Num: 2