DMPK (DM1 protein kinase)

2003-11-01  

Identity

HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
DM,DM1,DM1PK,DMK,MDPK,MT-PK
FUSION GENES

Other Information

Locus ID:

NCBI: 1760
MIM: 605377
HGNC: 2933
Ensembl: ENSG00000104936

Variants:

dbSNP: 1760
ClinVar: 1760
TCGA: ENSG00000104936
COSMIC: DMPK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104936ENST00000291270Q09013
ENSG00000104936ENST00000291270E5KR06
ENSG00000104936ENST00000343373Q09013
ENSG00000104936ENST00000354227Q09013
ENSG00000104936ENST00000447742Q09013
ENSG00000104936ENST00000447742E5KR07
ENSG00000104936ENST00000458663Q09013
ENSG00000104936ENST00000458663E5KR05
ENSG00000104936ENST00000588522K7EQX1
ENSG00000104936ENST00000593574M0QXJ9
ENSG00000104936ENST00000597660M0R1F3
ENSG00000104936ENST00000618091Q09013
ENSG00000104936ENST00000618091E5KR05

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
169467082006Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing.77
146575032004RNA leaching of transcription factors disrupts transcription in myotonic dystrophy.48
147017362004MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice.47
195140472009Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.41
157223352005Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells.38
232094252012Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus.37
178250472007Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles.36
182282412008Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms.30
283763412017Myotonic dystrophy: approach to therapy.29

Citation

Dessen P

DMPK (DM1 protein kinase)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40339/dmpk-(dm1-protein-kinase)