DMPK - DM1 protein kinase Gene

Homo sapiens

Also known as DM; DM1; DMK; MDPK; DM1PK; MT-PK

Gene ID: 1760 | Gene type: protein coding

About DMPK

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:45,769,709-45,782,490 (from NCBI)

This gene has 31 transcripts (splice variants), 114 orthologues, 13 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 38.6), prostate (RPKM 25.3) and 23 other tissues.

Summary

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 channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016]

DMPK Products(7)

mRNA	Protein	Name
NM_001081560.3	NP_001075029.1	myotonin-protein kinase isoform 3
NM_001081562.3	NP_001075031.1	myotonin-protein kinase isoform 4
NM_001081563.2	NP_001075032.1	myotonin-protein kinase isoform 1
NM_001288764.2	NP_001275693.1	myotonin-protein kinase isoform 5
NM_001288765.2	NP_001275694.1	myotonin-protein kinase isoform 6
NM_001288766.2	NP_001275695.1	myotonin-protein kinase isoform 7
NM_004409.5	NP_004400.4	myotonin-protein kinase isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP binding	IDA IDA: Inferred from direct assay	10913253	GOA
enables myosin phosphatase regulator activity	IDA IDA: Inferred from direct assay	11287000	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15598648	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	10913253	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in muscle cell apoptotic process	IDA IDA: Inferred from direct assay	18729234	GOA
involved in nuclear envelope organization	IMP IMP: Inferred from mutant phenotype	21949239	GOA
involved in protein phosphorylation	IDA IDA: Inferred from direct assay	10913253	GOA
involved in regulation of heart contraction	IDA IDA: Inferred from direct assay	15598648	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	15684391	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DMPK Protein Structure

Pkinase

DMPK_coil

0
100
200
300
400
500
629 a.a.

Protein Preferred Names

Protein Names

myotonin-protein kinase

DM protein kinase

Related Diseases

Diseases

Alias

Myotonic Dystrophy 1

Myotonic Dystrophy	Dystrophia Myotonica
Steinert Disease	Myotonic Dystrophy Type 1
Myotonia Atrophica	DM1
Congenital Myotonic Dystrophy	Myotonia Dystrophica
Steinert Myotonic Dystrophy	Dystrophia Myotonica 1
Dm	Steinert'S Disease
Steinert Myotonic Dystrophy Syndrome	Myotonic Dystrophy Of Steinert
Dystrophia Myotonica Type 1	Myotonic Dystrophy Congenital
Dystrophy, Myotonic, Type 1	Dm - [Dystrophia Myotonica]
Myotonic Muscular Dystrophy

Congenital-Onset Steinert Myotonic Dystrophy

Congenital-Onset Steinert Disease

Congenital-Onset Myotonic Dystrophy Type 1

Myotonic Disease

Myotonic Disorders	Myotonic Syndrome
Symptomatic Myotonia

Myotonia

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2	Proximal Myotonic Myopathy
Promm	Ricker Syndrome
DM2	Dystrophia Myotonica 2
Myotonic Myopathy, Proximal	Myotonic Disorders
Dystrophia Myotonica Type 2	Proximal Myotonic Dystrophy
Ricker Disease	Myotonic Dystrophy, Type 2
Dystrophy, Myotonic, Type 2

Myotonic Cataract

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Lens Disease

Lens Diseases

Myopathy

Muscular Diseases

Myopathies

Huntington Disease-Like 2

HDL2	Huntington'S Disease-Like 2
Huntington Disease-Like, Type 2

Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome	Fragile X Tremor/Ataxia Syndrome
Fxtas

X-Linked Hereditary Ataxia

Immature Cataract

Incipient Cataract	Incipient Senile Cataract
Water Clefts

Myotonia Congenita

Congenital Myotonia, Autosomal Dominant Form	Congenital Myotonia
Thomsen And Becker Disease	Thomsen Disease
Thomsen'S Disease	Generalized Myotonia Of Thomsen
Congenital Myotonic Muscular Dystrophy	Myotonia Congenita Nos

Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8	SCA8
Ataxia, Spinocerebellar, Type 8

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Muscle Tissue Disease

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy	Fshd
Landouzy-Dejerine Muscular Dystrophy	Muscular Dystrophy, Facioscapulohumeral
FSHD1	Fshd1a
Muscular Dystrophy, Facioscapulohumeral, Type 1a	Facioscapulohumeral Muscular Dystrophy Type 1a
Fsh Muscular Dystrophy	Facioscapulohumeral Muscular Dystrophy 1a
Facioscapulohumeral Atrophy	Facioscapulohumeral Myopathy
Muscular Dystrophy, Facioscapulohumeral, Type 1	Facioscapulohumeral Muscular Dystrophy Type 1
Landouzy Dejerine Muscular Dystrophy	Muscular Dystrophy, Landouzy-Dejerine
Fshmd1a	Facio-Scapulo-Humeral Dystrophy
Facioscapulohumeral Type Progressive Muscular Dystrophy	Facioscapuloperoneal Muscular Dystrophy
Facioscapulohumeral Dystrophy	Fsh Dystrophy
Landouzy-Dejerine Dystrophy	Landouzy-Dejerine Myopathy
Fmd	Facioscapulohumeral Muscular Dystrophy-1a
Muscular Dystrophy Facioscapulohumeral	Dystrophy, Muscular, Facioscapulohumeral
Dystrophy, Muscular, Facioscapulohumeral, Type 1	Landouzy-Dejerine Disease
Landouzy-Déjerine Atrophy	Facioscapulohumeral Muscle Dystrophy
Fmd - [Facioscapulohumeral Muscular Dystrophy]	Fsh - [Facioscapulohumeral Muscular Dystrophy]
Fshd - [Facioscapulohumeral Muscular Dystrophy]	Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy
Landouzy-Déjérine Muscular Dystrophy

Hair Follicle Neoplasm

Hair Matrix Neoplasm

Hair Matrix Tumour

Muscular Disease

Oculopharyngeal Muscular Dystrophy

OPMD	Muscular Dystrophy, Oculopharyngeal
Dystrophy, Oculopharyngeal Muscular	Oculopharyngeal Dystrophy
Progressive Muscular Dystrophy, Oculopharyngeal Type	Muscular Dystrophy Oculopharyngeal
Dystrophy, Muscular, Oculopharyngeal

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Kennedy Disease	Sbma
Spinal And Bulbar Muscular Atrophy	Kennedy'S Disease
X-Linked Spinal And Bulbar Muscular Atrophy	SMAX1
Kd	Kennedy Spinal And Bulbar Muscular Atrophy
Spinobulbar Muscular Atrophy	Bulbospinal Muscular Atrophy, X-Linked
Bulbospinal Neuronopathy, X-Linked Recessive	Xbsn
Spinal And Bulbar Muscular Atrophy Of Kennedy	Bulbospinal Muscular Atrophy
X-Linked Bulbospinal Amyotrophy	Bulbo-Spinal Atrophy, X-Linked
Spinal Bulbar Muscular Atrophy	X-Linked Bulbo-Spinal Atrophy
X-Linked Spinal Bulbar Muscular Atrophy	X-Linked Bsma
X-Linked Bulbospinal Muscular Atrophy	Spinal And Bulbar Muscular Atrophy X-Linked 1
Bulbospinal Muscular Atrophy X-Linked	Bulbospinal Neuronopathy X-Linked Recessive
Kennedy Disease)	Kennedy Syndrome
Atrophy, Muscular, Spinal And Bulbar, Kennedy Type	Atrophy, Muscular, Spinobulbar
Bulbospinal Neuronopathy

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Due To Lmna Mutation
MDCL	L-Cmd
Lmna-Related Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital
Congenital Muscular Dystrophy Lmna-Related	Lmna-Related Cmd
Cmd	Mdc
Muscular Dystrophy Congenital Lmna-Related	Dystrophy, Muscular, Congenital, Lmna-Related
Dystrophy, Muscular, Congenital	Hereditary Muscular Dystrophy
Congenital Hereditary Muscular Dystrophy	Congenital Progressive Muscular Dystrophy
Hereditary Progressive Muscular Dystrophy

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Type 2 Diabetes Mellitus

Insulin Resistance	NIDDM
Type 2 Diabetes	Diabetes Mellitus, Non-Insulin-Dependent
T2D	Noninsulin-Dependent Diabetes Mellitus
Diabetes Mellitus, Type Ii	Maturity-Onset Diabetes
Insulin Resistance, Severe, Digenic	Diabetes Mellitus, Type 2
Diabetes Mellitus, Noninsulin-Dependent	Diabetes Mellitus, Noninsulin-Dependent, Association With
Diabetes Mellitus, Noninsulin-Dependent, Late Onset	Hypertension, Insulin Resistance-Related, Susceptibility To
Insulin Resistance, Susceptibility To	Non-Insulin-Dependent Diabetes Mellitus
Type Ii Diabetes Mellitus	Adult-Onset Diabetes Mellitus
Maturity-Onset Diabetes Mellitus	Diabetes Mellitus Type 2
Type Ii Diabetes	Type 2 Diabetes Mellitus, Susceptibility To
Diabetes, Type 2	Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 2, Susceptibility To
Diabetes Mellitus, Noninsulin-Dependent, 2	Diabetes Mellitus, Type Ii, Susceptibility To
Hypertension, Insulin Resistance-Related	Adult-Onset Diabetes
Aodm	Diabetes Mellitus, Adult-Onset
Diabetes Mellitus Type Ii	Diabetes Mellitus Type 2, Susceptibility To
Diabetes, Type Ii, Susceptibility To	Diabetes Type 2
Diabetes Mellitus	Adult Onset Diabetes
Maturity Onset Diabetes	Nonketotic Diabetes
Non-Insulin Dependent Diabetes Mellitus	T2dm - [Type 2 Diabetes Mellitus]
Niddm - [Non Insulin Dependent Diabetes Mellitus]	Dm2
Dm Type Ii	Diabetic Type 2
Insulin Requiring Type 2 Diabetes	Noninsulin Dependent Diabetes
Non-Insulin-Dependent Diabetes Mellitus Without Complications	Diabetes Due To Insulin Secretory Defect
Diabetes Mellitus Due To Insulin Secretory Defect	Non-Insulin-Dependent Diabetes Of The Young
Senile Diabetes	Nonketotic Hyperglycaemia
Stable Diabetes

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-129550	BI-4020	Inhibitor	99.28%	Unkown
HY-16636	ML337	Modulator	99.13%	Unkown
HY-12995A	(S)-BI 665915	Inhibitor	/	Unkown
HY-118179	VU0486321		/	Unkown
HY-155527	SARS-CoV-2 Mpro-IN-9	Inhibitor	/	Unkown
HY-RS03827	DMPK Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-119185	AZD-6605		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DMPK	RGD	RGD:1309825
Mus musculus	DMPK	MGD	MGI:94906
Bos taurus	DMPK	VGNC	VGNC:28109
Canis familiaris	DMPK	VGNC	VGNC:40001
Felis catus	DMPK	VGNC	VGNC:61527
Others	DMPK	NCBI

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