Dmpk
Gene Detail

Symbol Name ID

Dmpk dystrophia myotonica-protein kinase MGI:94906

Synonyms

DM, Dm15

Feature Type

protein coding gene

Genetic Map

Chromosome 7

9.46 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)

Sequence Map

Chr7:19083849-19093821 bp, + strand From VEGA annotation of GRCm38   9973 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:3247  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Gene Tree: Dmpk

Human homologs

Human Homolog		DMPK, dystrophia myotonica-protein kinase
NCBI Gene ID		1760
neXtProt AC		NX_Q09013
Human Synonyms		DM, DM1, DM1PK, DMK, MDPK, MT-PK
Human Chr (Location)		19q13.3; chr19:46272975-46285815 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human DMPK

Alleles and phenotypes

All alleles(3) : Targeted(3)
 

Homozygotes for a null mutation exhibit abnormal sodium channel gating in cardiac myocytes, cardiac conduction defects, and late-onset progressive skeletal myopathy. Homozygotes for a second null mutation do not develop skeletal myopathy but do have abnormal muscle intracellular calcium levels.

 
Human Diseases Modeled Using Mouse Dmpk (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (39 annotations)

Process	cellular calcium ion homeostasis, muscle cell apoptotic process, ...
Component	cytoplasm, cytosol, ...
Function	ATP binding, kinase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (8 records)
Data Summary: Results (59)    Tissues (47)    Images (9)
Theiler Stages: 16, 17, 18, 19, 20, 22, 24, 26, 28

Assay Type	Results
Immunohistochemistry	14
RNA in situ	12
RT-PCR	21
RNase protection	12

cDNA source data(50)
External Resources: GEO   ArrayExpress

Molecular reagents

All nucleic(64) Genomic(10) cDNA(50) Primer pair(4)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000024656 (Evidence)
Ensembl Gene Model	ENSMUSG00000030409 (Evidence)
Entrez Gene	13400 (Evidence)
UniGene	6529
DFCI	TC1581969, TC1601490, TC1638755, TC1680043, TC1699923, TC1731518
DoTS	DT.101733310, DT.102552789, DT.489662, DT.55162485
NIA Mouse Gene Index	U007752, U028213
EC	2.7.11.1
Consensus CDS Project	CCDS39794.1, CCDS52053.1, CCDS52054.1
International Mouse Knockout Project Status	Dmpk

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024656	VEGA Gene Model | MGI Sequence Detail	9973	C57BL/6J
transcript	OTTMUST00000060629	VEGA | MGI Sequence Detail	2761	Not Applicable
polypeptide	OTTMUSP00000029595	VEGA | MGI Sequence Detail	631	Not Applicable

All sequences(89) RefSeq(6) UniProt(6)

Polymorphisms

PCR(2) : SNPs(74 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000961	AGC-kinase, C-terminal
InterPro	IPR014930	Myotonic dystrophy protein kinase, coiled coil
InterPro	IPR017441	Protein kinase, ATP binding site
InterPro	IPR000719	Protein kinase, catalytic domain
InterPro	IPR017892	Protein kinase, C-terminal
InterPro	IPR011009	Protein kinase-like domain
InterPro	IPR002290	Serine/threonine- / dual-specificity protein kinase, catalytic domain
InterPro	IPR008271	Serine/threonine-protein kinase, active site
InterPro	IPR026611	Serine/threonine-protein kinase MRCK
Protein Ontology	PR:000006541	myotonin-protein kinase

References

(Earliest) J:12705 Jansen G, et al., Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nat Genet. 1992 Jul;1(4):261-6
(Latest) J:178475 Harmon EB, et al., Myotonic dystrophy protein kinase is critical for nuclear envelope integrity. J Biol Chem. 2011 Nov 18;286(46):40296-306
All references(68)

Other accession IDs

MGD-MRK-8866