Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1760
Gene name Gene Name - the full gene name approved by the HGNC.
DM1 protein kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DMPK
Synonyms (NCBI Gene) Gene synonyms aliases
DM, DM1, DM1PK, DMK, MDPK, MT-PK
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium chann
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs762280354 G>A,C Pathogenic Missense variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017260 hsa-miR-335-5p Microarray 18185580
MIRT509368 hsa-miR-15a-5p HITS-CLIP 22927820
MIRT509367 hsa-miR-15b-5p HITS-CLIP 22927820
MIRT509366 hsa-miR-16-5p HITS-CLIP 22927820
MIRT509365 hsa-miR-195-5p HITS-CLIP 22927820
Transcription factors
Transcription factor Regulation Reference
CTCF Unknown 11479593
SPEN Activation 21637295
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002028 Process Regulation of sodium ion transport IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IDA 10913253, 11287000
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605377 2933 ENSG00000104936
Protein
UniProt ID Q09013
Protein name Myotonin-protein kinase (MT-PK) (EC 2.7.11.1) (DM-kinase) (DMK) (DM1 protein kinase) (DMPK) (Myotonic dystrophy protein kinase)
Protein function Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the ex
PDB 1WT6 , 2VD5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 71 339 Protein kinase domain Domain
PF08826 DMPK_coil 470 530 DMPK coiled coil domain like Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Most isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain, except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in the brain, with high levels
Sequence
MSAEVRLRRLQQLVLDPGFLGLEPLLDLLLGVHQELGASELAQDKYVADFLQWAEPIVVR
LKEVRLQRDDFEILKVIGRGAFSEVAVVKMKQTGQVYAMKIMNKWDMLKRGEVSCFREER
DVLVNGDRRWITQLHFAFQDENYLYLVMEYYVGGDLLTLLSKFGERIPAEMARFYLAEIV
MAIDSVHRLGYVHRDIKPDNILLDRCGHIRLADFGSCLKLRADGTVRSLVAVGTPDYLSP
EILQAVGGGPGTGSYGPECDWWALGVFAYEMFYGQTPFYADSTAETYGKIVHYKEHLSLP
LVDEGVPEEARDFIQRLLCPPETRLGRGGAGDFRTHPFF
FGLDWDGLRDSVPPFTPDFEG
ATDTCNFDLVEDGLTAMVSGGGETLSDIREGAPLGVHLPFVGYSYSCMALRDSEVPGPTP
MELEAEQLLEPHVQAPSLEPSVSPQDETAEVAVPAAVPAAEAEAEVTLRELQEALEEEVL
TRQSLSREMEAIRTDNQNFASQLREAEARNRDLEAHVRQLQERMELLQAE
GATAVTGVPS
PRATDPPSHLDGPPAVAVGQCPLVGPGPMHRRHLLLPARVPRPGLSEALSLLLFAVVLSR
AAALGCIGLVAHAGQLTAVWRRPGAARAP
Sequence length 629
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Ion homeostasis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Catecholaminergic Polymorphic Ventricular Tachycardia Catecholaminergic polymorphic ventricular tachycardia 1 N/A N/A ClinVar
Myotonic dystrophy myotonic dystrophy, myotonic dystrophy type 1 N/A N/A ClinVar, GenCC
Noonan Syndrome noonan syndrome N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adrenal Insufficiency Associate 16376058
Arrhythmias Cardiac Associate 27182706
Autistic Disorder Associate 32717741
CANVAS syndrome Associate 40113266
Cardiomyopathies Associate 27182706
Cardiomyopathy Dilated Associate 23349452
Cataract Associate 10434869
Disease Associate 34372915
Dystonia Associate 21868014
Fasciculation Associate 12598332