Myotonic dystrophy protein kinase

From Wikipedia, the free encyclopedia

Dystrophia myotonica-protein kinase

PDB rendering based on 1wt6.

Available structures: 1wt6

Identifiers

Symbol(s)

DMPK; DM; DM1; DM1PK; DMK; MDPK; MT-PK

External IDs

OMIM: 605377 MGI: 94906 HomoloGene: 3247

Gene ontology
Molecular Function:	• nucleotide binding • magnesium ion binding • protein serine/threonine kinase activity • ATP binding • transferase activity • identical protein binding
Biological Process:	• protein amino acid phosphorylation • muscle contraction • regulation of heart contraction • regulation of small GTPase mediated signal transduction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001081560 (mRNA)
NP_001075029 (protein)

XM_986224 (mRNA)
XP_991318 (protein)

Location

Chr 19: 50.97 - 50.98 Mb

Chr 7: 18.24 - 18.25 Mb

Pubmed search

[1]

[2]

Dystrophia myotonica-protein kinase, also known as DMPK, is a human gene.^[1]

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 5-37 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. 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.^[1]

[edit] References

^ ^a ^b Entrez Gene: DMPK dystrophia myotonica-protein kinase.

[edit] Further reading

Groenen P, Wieringa B (1999). "Expanding complexity in myotonic dystrophy.". Bioessays 20 (11): 901–12. doi:10.1002/(SICI)1521-1878(199811)20:11<901::AID-BIES5>3.0.CO;2-0. PMID 9872056.
Jansen G, Mahadevan M, Amemiya C, et al. (1993). "Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs.". Nat. Genet. 1 (4): 261–6. doi:10.1038/ng0792-261. PMID 1302022.
Tsilfidis C, MacKenzie AE, Mettler G, et al. (1993). "Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy.". Nat. Genet. 1 (3): 192–5. doi:10.1038/ng0692-192. PMID 1303233.
Brook JD, McCurrach ME, Harley HG, et al. (1992). "Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.". Cell 68 (4): 799–808. PMID 1310900.
Mahadevan M, Tsilfidis C, Sabourin L, et al. (1992). "Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.". Science 255 (5049): 1253–5. PMID 1546325.
Fu YH, Pizzuti A, Fenwick RG, et al. (1992). "An unstable triplet repeat in a gene related to myotonic muscular dystrophy.". Science 255 (5049): 1256–8. PMID 1546326.
Harley HG, Walsh KV, Rundle S, et al. (1991). "Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q.". Hum. Genet. 87 (1): 73–80. PMID 2037285.
Gennarelli M, Lucarelli M, Zelano G, et al. (1995). "Different expression of the myotonin protein kinase gene in discrete areas of human brain.". Biochem. Biophys. Res. Commun. 216 (2): 489–94. doi:10.1006/bbrc.1995.2649. PMID 7488138.
Shaw DJ, McCurrach M, Rundle SA, et al. (1994). "Genomic organization and transcriptional units at the myotonic dystrophy locus.". Genomics 18 (3): 673–9. PMID 7905855.
Sasagawa N, Sorimachi H, Maruyama K, et al. (1994). "Expression of a novel human myotonin protein kinase (MtPK) cDNA clone which encodes a protein with a thymopoietin-like domain in COS cells.". FEBS Lett. 351 (1): 22–6. PMID 8076686.
van der Ven PF, Jansen G, van Kuppevelt TH, et al. (1994). "Myotonic dystrophy kinase is a component of neuromuscular junctions.". Hum. Mol. Genet. 2 (11): 1889–94. PMID 8281152.
Carango P, Noble JE, Marks HG, Funanage VL (1994). "Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy.". Genomics 18 (2): 340–8. doi:10.1006/geno.1993.1474. PMID 8288237.
Jansen G, Bartolomei M, Kalscheuer V, et al. (1993). "No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues.". Hum. Mol. Genet. 2 (8): 1221–7. PMID 8401505.
Fu YH, Friedman DL, Richards S, et al. (1993). "Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.". Science 260 (5105): 235–8. PMID 8469976.
Mahadevan MS, Amemiya C, Jansen G, et al. (1993). "Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene.". Hum. Mol. Genet. 2 (3): 299–304. PMID 8499920.
Boucher CA, King SK, Carey N, et al. (1996). "A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.". Hum. Mol. Genet. 4 (10): 1919–25. PMID 8595416.
Roberts R, Timchenko NA, Miller JW, et al. (1998). "Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice.". Proc. Natl. Acad. Sci. U.S.A. 94 (24): 13221–6. PMID 9371827.
Suzuki A, Sugiyama Y, Hayashi Y, et al. (1998). "MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase.". J. Cell Biol. 140 (5): 1113–24. PMID 9490724.
Pham YC, Man N, Lam LT, Morris GE (1998). "Localization of myotonic dystrophy protein kinase in human and rabbit tissues using a new panel of monoclonal antibodies.". Hum. Mol. Genet. 7 (12): 1957–65. PMID 9811941.