Property Summary

NCBI Gene PubMed Count 65
Grant Count 123
R01 Count 46
Funding $24,713,019.89
PubMed Score 487.90
PubTator Score 153.26

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
psoriasis -1.200 0.001
osteosarcoma -2.251 0.000
ependymoma 1.400 0.000
medulloblastoma, large-cell -1.600 0.000
tuberculosis and treatment for 6 months 1.500 0.000
intraductal papillary-mucinous carcinoma... 1.300 0.010
intraductal papillary-mucinous neoplasm ... 2.000 0.006
lung cancer -2.500 0.000
colon cancer -1.300 0.001
group 4 medulloblastoma -1.300 0.001
ulcerative colitis -1.300 0.000

Synonym

Accession Q13496 A6NDB1 B7Z491 F2Z330 Q8NEL1
Symbols CNM
MTMX
XLMTM

Gene

Gene RIF (42)

PMID Text
25957634 This study demonistrated that MTM1 mutation releated to Centronuclear myopathy.
25087613 mutations in SPEG cause a centronuclear myopathy phenotype as a result of its interaction with MTM1.
23818870 Analysis of human XLMTM patient myotubes showed that mutations that disrupt the interaction between myotubularin and MTMR12 proteins result in reduction of both myotubularin and MTMR12
22968136 Large duplications in MTM1 may account for a number of Centronuclear myopathy cases that have remained genetically unresolved.
22403079 Mutations in specific myotubularins such as MTM1 result in myotubular myopathy and Charcot-Marie-Tooth peripheral neuropathy. (Review)
22101172 The patients of Myopathy had a novel heterozygous splice site mutation in the myotubularin gene, MTM1 (c.867+1G>T). Analysis of MTM1 cDNA revealed that the mutation resulted in aberrant splicing with variable exon skipping.
22068590 data explain the basis for phenotypic variability among human patients with MTM1 p.R69C mutations and establish the Mtm1 p.R69C mouse as a valuable model for the disease, as its less severe phenotype will expand the scope of testable preclinical therapies
21488203 A nonsense mutation Arg486STOP was identified in exon 7 of the MTM1 gene.
21478156 Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate.
21135508 mutations in MTM1 disrupted the MTM1-desmin complex, resulting in abnormal intermediate filament assembly and architecture in muscle cells
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AA Sequence

MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVIYICPFNGPIKGRVYITNYRL      1 - 70
YLRSLETDSSLILDVPLGVISRIEKMGGATSRGENSYGLDITCKDMRNLRFALKQEGHSRRDMFEILTRY     71 - 140
AFPLAHSLPLFAFLNEEKFNVDGWTVYNPVEEYRRQGLPNHHWRITFINKCYELCDTYPALLVVPYRASD    141 - 210
DDLRRVATFRSRNRIPVLSWIHPENKTVIVRCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTIYDAR    211 - 280
PSVNAVANKATGGGYESDDAYHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSSLESTHWLEHI    281 - 350
KLVLTGAIQVADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFAS    351 - 420
RIGHGDKNHTDADRSPIFLQFIDCVWQMSKQFPTAFEFNEQFLIIILDHLYSCRFGTFLFNCESARERQK    421 - 490
VTERTVSLWSLINSNKEKFKNPFYTKEINRVLYPVASMRHLELWVNYYIRWNPRIKQQQPNPVEQRYMEL    491 - 560
LALRDEYIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQTHF                               561 - 603
//

Text Mined References (72)

PMID Year Title
25957634 2015 Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
25087613 2014 SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
23917616 2013 The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.
23818870 2013 Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22968136 2013 Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.
22403079 2012 The PTEN and Myotubularin phosphoinositide 3-phosphatases: linking lipid signalling to human disease.
22101172 2012 Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.
22068590 2012 Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
More...