ENSMUSG00000030409


Mus musculus

Features
Gene ID: ENSMUSG00000030409
  
Biological name :Dmpk
  
Synonyms : Dmpk / Myotonin-protein kinase / P54265
  
Possible biological names infered from orthology : DM1 protein kinase / Q09013
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: A3
Gene start: 19083849
Gene end: 19093821
  
Corresponding Affymetrix probe sets: 10550574 (MoGene1.0st)   1422989_a_at (Mouse Genome 430 2.0 Array)   1434944_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000123516
Ensembl peptide - ENSMUSP00000104113
Ensembl peptide - ENSMUSP00000104114
Ensembl peptide - ENSMUSP00000118459
Ensembl peptide - ENSMUSP00000032568
NCBI entrez gene - 13400     See in Manteia.
MGI - MGI:94906
RefSeq - XM_011250433
RefSeq - XM_006539516
RefSeq - XM_006539517
RefSeq - XM_006539518
RefSeq - XM_006539519
RefSeq - XM_006539520
RefSeq - XM_006539521
RefSeq - XM_006539522
RefSeq - NM_001190490
RefSeq - NM_001190491
RefSeq - NM_032418
RefSeq Peptide - NP_115794
RefSeq Peptide - NP_001177419
RefSeq Peptide - NP_001177420
swissprot - D3YYG5
swissprot - P54265
swissprot - D6RI32
swissprot - E9Q6J9
Ensembl - ENSMUSG00000030409
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 DMPKENSDARG00000074914Danio rerio
 DMPKENSG00000104936Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q80UW5 / Cdc42bpg / Serine/threonine-protein kinase MRCK gamma / Q6DT37* / CDC42 binding protein kinase gamma*ENSMUSG0000002476949
Q7TT50 / Cdc42bpb / CDC42 binding protein kinase beta / Q9Y5S2*ENSMUSG0000002127948
Q3UU96 / Cdc42bpa / Serine/threonine-protein kinase MRCK alpha / Q5VT25* / CDC42 binding protein kinase alpha*ENSMUSG0000002649047
Rock1 / P70335 / Rho-associated protein kinase 1 / Q13464* / Rho associated coiled-coil containing protein kinase 1*ENSMUSG0000002429032
Cit / citron rho-interacting serine/threonine kinase / O14578*ENSMUSG0000002951632
Rock2 / Rho associated coiled-coil containing protein kinase 2 / O75116*ENSMUSG0000002058031
Lats2 / Q7TSJ6 / Serine/threonine-protein kinase LATS2 / Q9NRM7* / large tumor suppressor kinase 2*ENSMUSG0000002195925
Lats1 / Q8BYR2 / Serine/threonine-protein kinase LATS1 / O95835* / large tumor suppressor kinase 1*ENSMUSG0000004002123
Q7TSE6 / Stk38l / Mus musculus serine/threonine kinase 38 like (Stk38l), transcript variant 2, mRNA. / Q9Y2H1* / serine/threonine kinase 38 like*ENSMUSG0000000163023
Stk38 / Q91VJ4 / Mus musculus serine/threonine kinase 38 (Stk38), transcript variant 2, mRNA. / Q15208* / serine/threonine kinase 38*ENSMUSG0000002400623
Lats2 / Q9NRM7* / large tumor suppressor kinase 2*ENSMUSG0000011494215


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR000961  AGC-kinase, C-terminal
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR014930  Myotonic dystrophy protein kinase, coiled coil
 IPR017441  Protein kinase, ATP binding site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002028 regulation of sodium ion transport IMP
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IMP
 biological_processGO:0006998 nuclear envelope organization IMP
 biological_processGO:0008016 regulation of heart contraction IDA
 biological_processGO:0010657 muscle cell apoptotic process ISO
 biological_processGO:0010830 regulation of myotube differentiation IMP
 biological_processGO:0014722 regulation of skeletal muscle contraction by calcium ion signaling IMP
 biological_processGO:0014853 regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction IMP
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018105 peptidyl-serine phosphorylation IBA
 biological_processGO:0043666 regulation of phosphoprotein phosphatase activity IEA
 biological_processGO:0051823 regulation of synapse structural plasticity IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005640 nuclear outer membrane IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005741 mitochondrial outer membrane IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 cellular_componentGO:0031307 integral component of mitochondrial outer membrane ISO
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0017020 myosin phosphatase regulator activity ISO
 molecular_functionGO:0031072 heat shock protein binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Ion homeostasis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000748 progressive muscle weakness "increasing loss of strength over time" [MGI:CLS, J:67994]
Show

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

 MP:0000750 abnormal muscle regeneration "inability or defects in ability to repair muscle after injuries" [J:42574]
Show

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

Allelic Composition: Dmpktm1Rdd/Dmpk+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0000751 myopathy "any abnormal condition or disease of the skeletal muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:42574]
Show

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

Allelic Composition: Dmpktm1Rdd/Dmpk+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gja1tm6(Gjb3)Kwi/Gja1tm6(Gjb3)Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Dmpktm2Bew/Dmpk+
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

 MP:0002841 impaired skeletal muscle contractility "inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

Allelic Composition: Dmpktm1Rdd/Dmpk+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0003896 prolonged PQ interval "increase in the length of time between the beginning of atrial depolarisation and the beginning of ventricular depolarisation" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Dmpktm1Rdd/Dmpk+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0004089 dilated sarcoplasmic reticulum "an expansion in the volume in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

 MP:0004090 abnormal sarcomere morphology "any structural abnormality in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

Allelic Composition: Dmpktm1Rdd/Dmpk+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0004092 absent Z lines "missing the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

 MP:0004215 abnormal myocardial fiber physiology "anomaly in the function of the multinucleated muscle cells of the heart" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

 MP:0004231 abnormal calcium ion homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of calcium ions within the body or between a cell and its external environment" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

 MP:0006141 abnormal atrioventricular node conduction "anomaly in the generation or transfer of cardiac electrical impulses from the atrioventricular node to the atrioventricular bundle " [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

 MP:0009402 decreased skeletal muscle fiber diameter "decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dmpktm1Rdd/Dmpk+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0009403 increased variability of skeletal muscle fiber size "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

 MP:0010519 atrioventricular block "a partial or complete obstruction of the impulse that originates in the atria or sinoatrial node from reaching or transmitting through the atrioventricular node to the ventricles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

Allelic Composition: Dmpktm1Rdd/Dmpk+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0010559 heart block "a partial or complete obstruction of the propogation of electric impulses through the impulse conduction system of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dmpktm1Rdd/Dmpk+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000030409 Dmpk / P54265 / Myotonin-protein kinase / Q09013* / DM1 protein kinase*  / complex
 ENSMUSG00000038583 Pln / P61014 / Cardiac phospholamban / P26678* / phospholamban*  / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr