Property Summary

NCBI Gene PubMed Count 13
PubMed Score 5.77
PubTator Score 6.58

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
osteosarcoma 7933 7.94074394061674E-7
acute quadriplegic myopathy 1157 2.9629353663983E-5
dermatomyositis 967 1.27768450257533E-4
Pick disease 1893 1.39711269551973E-4
medulloblastoma, large-cell 6234 3.49595750476501E-4
ovarian cancer 8492 3.56982345163625E-4
psoriasis 6685 0.00126985809683156
oligodendroglioma 2849 0.00382434003498083
Gaucher disease type 1 171 0.00488483199443274
lung cancer 4473 0.0091683445246465
group 4 medulloblastoma 1875 0.00944965612342515
aldosterone-producing adenoma 664 0.0146468648867736
non primary Sjogren syndrome sicca 840 0.0156394843156075
adrenocortical carcinoma 1427 0.0173980597188801
atypical teratoid / rhabdoid tumor 4369 0.0215551587299849
spina bifida 1064 0.0226439600247717

Expression

  Differential Expression (16)

Disease log2 FC p
oligodendroglioma 1.900 0.004
psoriasis 1.300 0.001
osteosarcoma -2.755 0.000
atypical teratoid / rhabdoid tumor 1.200 0.022
medulloblastoma, large-cell 1.500 0.000
acute quadriplegic myopathy 1.175 0.000
adrenocortical carcinoma 1.064 0.017
lung cancer 1.600 0.009
group 4 medulloblastoma 1.500 0.009
non primary Sjogren syndrome sicca -1.500 0.016
aldosterone-producing adenoma -1.376 0.015
spina bifida -1.314 0.023
Pick disease -1.400 0.000
ovarian cancer 2.000 0.000
Gaucher disease type 1 -2.100 0.005
dermatomyositis 1.300 0.000

Synonym

Accession Q13613 A0A024RC07 Q9UBX6 Q9UEM0 Q9UQD5
Symbols

Gene

PANTHER Protein Class (2)

PDB

5C16  

  Ortholog (15)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA Inparanoid
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid
Zebrafish OMA EggNOG
C. elegans OMA Inparanoid

 MGI Term (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.
More...