DMPK
entrez
1760
canonical
uniprot
Q09013
canonical
ensembl
ENSG00000104936
resolver
ensp
ENSP00000291270
resolver
ensp
ENSP00000345997
resolver
ensp
ENSP00000346168
resolver
ensp
ENSP00000401753
resolver
ensp
ENSP00000413417
resolver
ensp
ENSP00000508381
resolver
ensp
ENSP00000572204
resolver
ensp
ENSP00000572205
resolver
ensp
ENSP00000572211
resolver
ensp
ENSP00000649545
resolver
genesymbol
DMPK
resolver
genesymbol_syn
DM1PK
resolver
genesymbol_syn
MDPK
resolver
hgnc
HGNC:2933
resolver
uniprot
B4DM55
resolver
uniprot
B4DZE2
resolver
uniprot
E5KR05
resolver
uniprot
E5KR06
resolver
uniprot
E5KR07
resolver
uniprot
E5KR08
resolver
uniprot
I6L989
resolver
uniprot
Q16205
resolver
uniprot
Q6P5Z6
resolver
uniprot_entry
B4DM55_HUMAN
resolver
uniprot_entry
B4DZE2_HUMAN
resolver
uniprot_entry
DMPK_HUMAN
resolver
uniprot_entry
E5KR05_HUMAN
resolver
uniprot_entry
E5KR06_HUMAN
resolver
uniprot_entry
E5KR07_HUMAN
resolver
uniprot_entry
I6L989_HUMAN
resolver
uniprot_sec
E5KR08
resolver
uniprot_sec
Q16205
resolver
uniprot_sec
Q6P5Z6
resolver
activity_regulation
ACTIVITY REGULATION: Coiled-coil-mediated oligomerization enhances the catalytic activity. Proteolytic processing of the C-terminus may release the protein from membranes and constitute a mean to regulate the enzyme. May be regulated by HSPB2, RAC1, RAF1 and G protein second messengers. {ECO:0000269|PubMed:10869570, ECO:0000269|PubMed:10913253, ECO:0000269|PubMed:12832055, ECO:0000269|PubMed:9490724}.
uniprot
proteins
amino_acid_sequence
MSAEVRLRRLQQLVLDPGFLGLEPLLDLLLGVHQELGASELAQDKYVADFLQWAEPIVVRLKEVRLQRDDFEILKVIGRGAFSEVAVVKMKQTGQVYAMKIMNKWDMLKRGEVSCFREERDVLVNGDRRWITQLHFAFQDENYLYLVMEYYVGGDLLTLLSKFGERIPAEMARFYLAEIVMAIDSVHRLGYVHRDIKPDNILLDRCGHIRLADFGSCLKLRADGTVRSLVAVGTPDYLSPEILQAVGGGPGTGSYGPECDWWALGVFAYEMFYGQTPFYADSTAETYGKIVHYKEHLSLPLVDEGVPEEARDFIQRLLCPPETRLGRGGAGDFRTHPFFFGLDWDGLRDSVPPFTPDFEGATDTCNFDLVEDGLTAMVSGGGETLSDIREGAPLGVHLPFVGYSYSCMALRDSEVPGPTPMELEAEQLLEPHVQAPSLEPSVSPQDETAEVAVPAAVPAAEAEAEVTLRELQEALEEEVLTRQSLSREMEAIRTDNQNFASQLREAEARNRDLEAHVRQLQERMELLQAEGATAVTGVPSPRATDPPSHLDGPPAVAVGQCPLVGPGPMHRRHLLLPARVPRPGLSEALSLLLFAVVLSRAAALGCIGLVAHAGQLTAVWRRPGAARAP
uniprot
proteins
disease_involvement
DISEASE: Dystrophia myotonica 1 (DM1) [MIM:160900]: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. {ECO:0000269|PubMed:1302022, ECO:0000269|PubMed:1310900, ECO:0000269|PubMed:1546326, ECO:0000269|PubMed:19514047}. Note=The disease is caused by variants affecting the gene represented in this entry. The causative mutation is a CTG expansion in the 3'-UTR of the DMPK gene. A length exceeding 50 CTG repeats is pathogenic, while normal individuals have 5 to 37 repeats. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions. Disease severity varies with the number of repeats: mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. {ECO:0000269|PubMed:1310900, ECO:0000269|PubMed:19514047}.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
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 expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity. {ECO:0000269|PubMed:10811636, ECO:0000269|PubMed:10913253, ECO:0000269|PubMed:11287000, ECO:0000269|PubMed:15598648, ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:21949239}.
uniprot
proteins
mass_dalton
69385
uniprot
proteins
mutagenesis
MUTAGEN 100; /note="K->A: Loss of kinase activity."; /evidence="ECO:0000269|PubMed:15598648
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. Autophosphorylates. Phosphorylation by RAF1 may result in activation of DMPK. {ECO:0000269|PubMed:10869570}.; PTM: Proteolytic processing of the C-terminus may remove the transmembrane domain and release the kinase from membranes stimulating its activity. {ECO:0000269|PubMed:10913253}.
uniprot
proteins
protein_family
AGC Ser/Thr protein kinase family
uniprot
proteins
protein_family
DMPK subfamily
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
10699184
uniprot
proteins
pubmed
10811636
uniprot
proteins
pubmed
10869570
uniprot
proteins
pubmed
10913253
uniprot
proteins
pubmed
11287000
uniprot
proteins
pubmed
12832055
uniprot
proteins
pubmed
1302022
uniprot
proteins
pubmed
1310900
uniprot
proteins
pubmed
1546326
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15583383
uniprot
proteins
pubmed
15598648
uniprot
proteins
pubmed
15684391
uniprot
proteins
pubmed
16770013
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
19309729
uniprot
proteins
pubmed
19514047
uniprot
proteins
pubmed
20843780
uniprot
proteins
pubmed
21457715
uniprot
proteins
pubmed
21949239
uniprot
proteins
pubmed
24722188
uniprot
proteins
pubmed
7488138
uniprot
proteins
pubmed
7905855
uniprot
proteins
pubmed
8076686
uniprot
proteins
pubmed
8469976
uniprot
proteins
pubmed
8499920
uniprot
proteins
pubmed
9490724
uniprot
proteins
sequence_length
629
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Nucleus outer membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Mitochondrion outer membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}. Sarcoplasmic reticulum membrane {ECO:0000250}. Cell membrane {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Note=Localizes to sarcoplasmic reticulum membranes of cardiomyocytes. {ECO:0000250}.; SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion membrane.; SUBCELLULAR LOCATION: [Isoform 3]: Mitochondrion membrane.
uniprot
proteins
transmembrane_region
TRANSMEM 591..611; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins