National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory
Protein Information |
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| Protein Name | Myotonin-protein kinase |
| Accession Code | Q09013 |
| Gene | DMPK |
| Organism | Homo sapiens | Human (Taxonomy: 9606) |
| Part of Reference Proteome? | Yes |
| Sequence (Length: 629) |
Structure Viewer (PDB: 1WT6) |
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Description |
Position in the Nuclear Envelope |
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|---|---|---|
| Location | Location ID | Description |
| Nuclear Envelope | SL-0178 | The nuclear envelope is a membrane system which surrounds the nucleoplasm of eukaryotic cells. It is composed of the nuclear lamina, nuclear pore complexes and two nuclear membranes. The space between the two membranes is called the nuclear intermembrane space. |
| Nuclear Membrane | SL-0182 | The membrane surrounding the nucleus. This term is used when it is not known if the protein is found in or associated with the inner or outer nuclear membrane. |
| Nuclear Outer Membrane | SL-0183 | The outer membrane of the nucleus is the membrane facing the cytoplasm. In mammals, the outer nuclear membrane is continuous in many places with the rough endoplasmic reticulum and is dotted with ribosomes. | Membrane Topology |
| Topology | Source | Annotation Type |
| Transmembrane | UniProt | Sequence Analysis {ECO:0000255} | Assigned Ontology terms |
Description |
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| 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. {Experimental EvidencePubMed:10811636, Experimental EvidencePubMed:10913253, Experimental EvidencePubMed:11287000, Experimental EvidencePubMed:15598648, Experimental EvidencePubMed:21457715, Experimental EvidencePubMed:21949239}. | Assigned Ontology terms |
Description |
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| 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. {Experimental EvidencePubMed:1302022, Experimental EvidencePubMed:1310900, Experimental EvidencePubMed:1546326, Experimental EvidencePubMed: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. {Experimental EvidencePubMed:1310900, Experimental EvidencePubMed:19514047}. | Database Associations |
| OMIM | 160900 605377 |
| DisGeNET | 1760 |
Interactions with Nuclear Envelope proteins (2 interactors) |
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Interactions with other proteins (15 interactors) |
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Database | Links |
| UNIPROT | Q09013 E5KR08 Q16205 Q6P5Z6 |
| PDB | 1WT6 2VD5 |
| Pfam | PF08826 PF00069 |
| PROSITE | PS51285 PS00107 PS50011 PS00108 |
| OMIM | 160900 605377 |
| DisGeNET | 1760 |
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory