Property Summary

NCBI Gene PubMed Count 13
PubMed Score 5.77
PubTator Score 6.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
oligodendroglioma 1.900 3.8e-03
psoriasis 1.300 1.3e-03
osteosarcoma -2.755 7.9e-07
atypical teratoid / rhabdoid tumor 1.200 2.2e-02
medulloblastoma, large-cell 1.500 3.5e-04
acute quadriplegic myopathy 1.175 3.0e-05
adrenocortical carcinoma 1.064 1.7e-02
lung cancer 1.600 9.2e-03
group 4 medulloblastoma 1.500 9.4e-03
non primary Sjogren syndrome sicca -1.500 1.6e-02
aldosterone-producing adenoma -1.376 1.5e-02
spina bifida -1.314 2.3e-02
Pick disease -1.400 1.4e-04
ovarian cancer 2.000 3.6e-04
Gaucher disease type 1 -2.100 4.9e-03
dermatomyositis 1.300 1.3e-04

 MGI Phenotype (1)

Gene RIF (3)

PMID Text
20685272 an aberrant MTMR1 expression and signs of altered myofiber maturation were documented in both DM1 and in DM2 muscle tissues.
12925573 REVIEW : MTMR1 belongs to the myotubularin family of phosphoinositides phosphatases
12217958 Altered splicing of MTMR1 RNA in the pathological context of congenital myotonic dystrophy

AA Sequence

MDRPAAAAAAGCEGGGGPNPGPAGGRRPPRAAGGATAGSRQPSVETLDSPTGSHVEWCKQLIAATISSQI      1 - 70
SGSVTSENVSRDYKALRDGNKLAQMEEAPLFPGESIKAIVKDVMYICPFMGAVSGTLTVTDFKLYFKNVE     71 - 140
RDPHFILDVPLGVISRVEKIGAQSHGDNSCGIEIVCKDMRNLRLAYKQEEQSKLGIFENLNKHAFPLSNG    141 - 210
QALFAFSYKEKFPINGWKVYDPVSEYKRQGLPNESWKISKINSNYEFCDTYPAIIVVPTSVKDDDLSKVA    211 - 280
AFRAKGRVPVLSWIHPESQATITRCSQPLVGPNDKRCKEDEKYLQTIMDANAQSHKLIIFDARQNSVADT    281 - 350
NKTKGGGYESESAYPNAELVFLEIHNIHVMRESLRKLKEIVYPSIDEARWLSNVDGTHWLEYIRMLLAGA    351 - 420
VRIADKIESGKTSVVVHCSDGWDRTAQLTSLAMLMLDSYYRTIKGFETLVEKEWISFGHRFALRVGHGND    421 - 490
NHADADRSPIFLQFVDCVWQMTRQFPSAFEFNELFLITILDHLYSCLFGTFLCNCEQQRFKEDVYTKTIS    491 - 560
LWSYINSQLDEFSNPFFVNYENHVLYPVASLSHLELWVNYYVRWNPRMRPQMPIHQNLKELLAVRAELQK    561 - 630
RVEGLQREVATRAVSSSSERGSSPSHSATSVHTSV                                       631 - 665
//

Text Mined References (19)

PMID Year Title
27018598 2016 Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21269460 2011 Initial characterization of the human central proteome.
20685272 2010 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).
18669648 2008 A quantitative atlas of mitotic phosphorylation.
15772651 2005 The DNA sequence of the human X chromosome.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12925573 2003 Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12217958 2002 Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.
11846405 2002 Functional redundancy in the myotubularin family.
11733541 2002 Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.
11275328 2001 The myotubularin family: from genetic disease to phosphoinositide metabolism.
9847074 1998 Toward a complete human genome sequence.
9828128 1998 Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1).
9736772 1998 Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
8640223 1996 A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.