Homo sapiens Protein: DMPK | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-58006.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | DMPK | ||||||||||||||||||||||
Protein Name | dystrophia myotonica-protein kinase | ||||||||||||||||||||||
Synonyms | DM; DM1; DM1PK; DMK; MDPK; MT-PK; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000346168 | ||||||||||||||||||||||
InnateDB Gene | IDBG-57994 (DMPK) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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:0000269PubMed:10811636, ECO:0000269PubMed:10913253, ECO:0000269PubMed:11287000, ECO:0000269PubMed:15598648, ECO:0000269PubMed:21457715, ECO:0000269PubMed:21949239}. | ||||||||||||||||||||||
Subcellular Localization | 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}.Isoform 1: Mitochondrion membrane.Isoform 3: Mitochondrion membrane. | ||||||||||||||||||||||
Disease Associations | 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:0000269PubMed:1302022, ECO:0000269PubMed:1310900, ECO:0000269PubMed:1546326, ECO:0000269PubMed:19514047}. Note=The disease is caused by mutations 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. | ||||||||||||||||||||||
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 in the striatum, cerebellar cortex and pons. {ECO:0000269PubMed:7488138}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000719
Protein kinase domain IPR000961 AGC-kinase, C-terminal IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain IPR011009 Protein kinase-like domain IPR014930 Myotonic dystrophy protein kinase, coiled coil IPR020635 Tyrosine-protein kinase, catalytic domain |
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PFAM |
PF00069
PF07714 PF08826 |
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PRINTS |
PR00109
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PIRSF | |||||||||||||||||||||||
SMART |
SM00133
SM00220 SM00219 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q09013 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q09013 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 1760 | ||||||||||||||||||||||
UniGene | Hs.729792 | ||||||||||||||||||||||
RefSeq | NP_001275695 | ||||||||||||||||||||||
HUGO | HGNC:2933 | ||||||||||||||||||||||
OMIM | 605377 | ||||||||||||||||||||||
CCDS | CCDS74400 | ||||||||||||||||||||||
HPRD | 05645 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | BC062553 CH471126 L00727 L08835 L19266 L19268 M87312 M94203 S72883 U46546 | ||||||||||||||||||||||
GenPept | AAA36205 AAA36206 AAA64884 AAA75235 AAA75236 AAA75237 AAA75238 AAA75239 AAA75240 AAA87583 AAB31800 AAC14448 AAC14449 AAC14450 AAC14451 AAH62553 EAW57382 | ||||||||||||||||||||||