Property Summary

NCBI Gene PubMed Count 126
Grant Count 89
R01 Count 60
Funding $11,335,026.81
PubMed Score 476.61
PubTator Score 1097.27

Knowledge Summary

Patent (13,790)

Expression

  Differential Expression (11)

Disease log2 FC p
astrocytic glioma 1.100 0.007
ependymoma 1.600 0.001
psoriasis -2.500 0.000
atypical teratoid / rhabdoid tumor 1.100 0.002
glioblastoma 1.300 0.000
juvenile dermatomyositis 1.112 0.000
Amyotrophic Lateral Sclerosis 1.132 0.000
acute quadriplegic myopathy 1.188 0.000
diabetes mellitus -1.200 0.003
pilocytic astrocytoma 1.100 0.001
dermatomyositis -1.200 0.002

Synonym

Accession Q09013 E5KR08 Q16205 Q6P5Z6 MT-PK
Symbols DM
DM1
DMK
MDPK
DM1PK
MT-PK

Gene

PDB

1WT6   2VD5  

  TechDev Info (1)

Gary Johnson Kinome profile via MIB/MS Technology

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1982 other 0 / 0 / 0 Kinase inhibition selectivity assay for compound SID-48409448

Gene RIF (89)

PMID Text
26756355 Study shows DMPK expression with a complex pattern of tissue-specific epigenetics consistent with evidence that normal tissue require careful regulation of its RNA and protein levels which might include cis-acting regulatory elements in neighboring genes.
26339785 Sense DMPK RNA foci clearly co-localize with MBNL1 and MBNL2 proteins and accumulate in myotonic dystrophy 1 tissues during development.
26310035 Three SNP loci (rs915915, rs1799894, and rs10415988) associated with a high chance of myotonic dystrophy in Yakut population.
26304544 miR-206 and miR-148a regulate the DMPK transcript and may functionally cooperate.
26214024 This study supports the idea that genetic abnormalities in DM1mainly target the white matter, but gray matter involvement is also crucial in determining the clinical characteristics of myotonic dystrophy type 1.
25702800 that genome modification may be used to generate genetically modified progenitor cells as a first step toward autologous cell transfer therapy for Myotonic dystrophy type 1
24792155 The results show that a DEAD-box helicase, DDX6, interacts with CUG-expanded DMPK-mRNA in primary fibroblasts from dystrophia myotonica type 1 patients.
24417793 This study found a correlation between CTG expansion and age of onset, temporalis wasting and mental disability.
24274137 In conclusion, our data suggest that the frequency of DMPK mutation carriers and the prevalence of DM1 in the Korean population might be higher than those reported in other ethnicities. Supporting
24139022 This study demonstrates the feasibility of carrying out longitudinal in vivo studies of muscle function over several months in a mouse model of myotonic dystrophy confirming the feasibility of this method to test preclinical therapeutics.
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AA Sequence

MSAEVRLRRLQQLVLDPGFLGLEPLLDLLLGVHQELGASELAQDKYVADFLQWAEPIVVRLKEVRLQRDD      1 - 70
FEILKVIGRGAFSEVAVVKMKQTGQVYAMKIMNKWDMLKRGEVSCFREERDVLVNGDRRWITQLHFAFQD     71 - 140
ENYLYLVMEYYVGGDLLTLLSKFGERIPAEMARFYLAEIVMAIDSVHRLGYVHRDIKPDNILLDRCGHIR    141 - 210
LADFGSCLKLRADGTVRSLVAVGTPDYLSPEILQAVGGGPGTGSYGPECDWWALGVFAYEMFYGQTPFYA    211 - 280
DSTAETYGKIVHYKEHLSLPLVDEGVPEEARDFIQRLLCPPETRLGRGGAGDFRTHPFFFGLDWDGLRDS    281 - 350
VPPFTPDFEGATDTCNFDLVEDGLTAMVSGGGETLSDIREGAPLGVHLPFVGYSYSCMALRDSEVPGPTP    351 - 420
MELEAEQLLEPHVQAPSLEPSVSPQDETAEVAVPAAVPAAEAEAEVTLRELQEALEEEVLTRQSLSREME    421 - 490
AIRTDNQNFASQLREAEARNRDLEAHVRQLQERMELLQAEGATAVTGVPSPRATDPPSHLDGPPAVAVGQ    491 - 560
CPLVGPGPMHRRHLLLPARVPRPGLSEALSLLLFAVVLSRAAALGCIGLVAHAGQLTAVWRRPGAARAP     561 - 629
//

Text Mined References (129)

PMID Year Title
26756355 2016 Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood.
26339785 2015 Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.
26310035 2015 [Genetic Variability and Structure of SNP Haplotypes in the DMPK Gene in Yakuts and Other Ethnic Groups of Northern Eurasia in Relation to Myotonic Dystrophy].
26304544 2015 Cooperation meets competition in microRNA-mediated DMPK transcript regulation.
26214024 How genetics affects the brain to produce higher-level dysfunctions in myotonic dystrophy type 1.
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25702800 2015 Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells.
24792155 2014 DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24417793 2014 Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy.
More...