Myotonin-protein kinase

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Dystrophia myotonica-protein kinase
PBB Protein DMPK image.jpg
PDB rendering based on 1wt6.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols DMPK ; DM; DM1; DM1PK; DMK; MDPK; MT-PK
External IDs OMIM605377 MGI94906 HomoloGene3247 ChEMBL: 5320 GeneCards: DMPK Gene
EC number 2.7.11.1
RNA expression pattern
PBB GE DMPK 37996 s at tn.png
PBB GE DMPK 217066 s at tn.png
PBB GE DMPK 217661 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1760 13400
Ensembl ENSG00000104936 ENSMUSG00000030409
UniProt Q09013 P54265
RefSeq (mRNA) NM_001081560 NM_001190490
RefSeq (protein) NP_001075029 NP_001177419
Location (UCSC) Chr 19:
46.27 – 46.29 Mb
Chr 7:
19.08 – 19.09 Mb
PubMed search [1] [2]

Myotonin-protein kinase (MT-PK) also known as myotonic dystrophy protein kinase (MDPK) or dystrophia myotonica protein kinase (DMK) is an enzyme that in humans is encoded by the DMPK gene.[1][2][3]

Function[edit]

Myotonin-protein kinase 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.[3]

Clinical significance[edit]

The 3' untranslated region of this gene contains 5-37 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.[3]

Interactions[edit]

Myotonic dystrophy protein kinase has been shown to interact with HSPB2[4][5] and RAC1.[6]

References[edit]

  1. ^ Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K, et al. (April 1992). "Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene". Science 255 (5049): 1253–5. doi:10.1126/science.1546325. PMID 1546325. 
  2. ^ Fu YH, Pizzuti A, Fenwick RG Jr, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P, et al. (April 1992). "An unstable triplet repeat in a gene related to myotonic muscular dystrophy". Science 255 (5049): 1256–8. doi:10.1126/science.1546326. PMID 1546326. 
  3. ^ a b c "Entrez Gene: DMPK dystrophia myotonica-protein kinase". 
  4. ^ Suzuki, A; Sugiyama Y, Hayashi Y, Nyu-i N, Yoshida M, Nonaka I, Ishiura S, Arahata K, Ohno S (March 1998). "MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase". J. Cell Biol. (UNITED STATES) 140 (5): 1113–24. doi:10.1083/jcb.140.5.1113. ISSN 0021-9525. PMC 2132705. PMID 9490724. 
  5. ^ Sugiyama, Y; Suzuki A, Kishikawa M, Akutsu R, Hirose T, Waye M M, Tsui S K, Yoshida S, Ohno S (January 2000). "Muscle develops a specific form of small heat shock protein complex composed of MKBP/HSPB2 and HSPB3 during myogenic differentiation". J. Biol. Chem. (UNITED STATES) 275 (2): 1095–104. doi:10.1074/jbc.275.2.1095. ISSN 0021-9258. PMID 10625651. 
  6. ^ Shimizu, M; Wang W, Walch E T, Dunne P W, Epstein H F (June 2000). "Rac-1 and Raf-1 kinases, components of distinct signaling pathways, activate myotonic dystrophy protein kinase". FEBS Lett. (NETHERLANDS) 475 (3): 273–7. doi:10.1016/S0014-5793(00)01692-6. ISSN 0014-5793. PMID 10869570. 

External links[edit]

Further reading[edit]