PKP2
Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene.[1][2]
Function
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13.[2]
Interactions
PKP2 has been shown to interact with:
- Desmoglein 1,[3]
- Desmoplakin,[3] and
- Plakoglobin.[3]
See also
References
- ↑ Mertens C, Kuhn C, Franke WW (Jan 1997). "Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque". J Cell Biol 135 (4): 1009–25. doi:10.1083/jcb.135.4.1009. PMC 2133394. PMID 8922383.
- ↑ 2.0 2.1 "Entrez Gene: PKP2 plakophilin 2".
- ↑ 3.0 3.1 3.2 Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ (Mar 2002). "Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling". J. Biol. Chem. 277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID 11790773.
Further reading
- Bonné S, van Hengel J, van Roy F (1998). "Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily". Genomics 51 (3): 452–4. doi:10.1006/geno.1998.5398. PMID 9721216. Vancouver style error (help)
- Mertens C, Kuhn C, Moll R, Schwetlick I, Franke WW (1999). "Desmosomal plakophilin 2 as a differentiation marker in normal and malignant tissues". Differentiation 64 (5): 277–90. doi:10.1046/j.1432-0436.1999.6450277.x. PMID 10374264.
- Schmidt A, Langbein L, Prätzel S, Rode M, Rackwitz HR, Franke WW (1999). "Plakophilin 3--a novel cell-type-specific desmosomal plaque protein". Differentiation 64 (5): 291–306. doi:10.1046/j.1432-0436.1999.6450291.x. PMID 10374265. Vancouver style error (help)
- Bonné S, van Hengel J, van Roy F (2000). "Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization". Cytogenet. Cell Genet. 88 (3–4): 286–7. doi:10.1159/000015540. PMID 10828611. Vancouver style error (help)
- Hofmann I, Mertens C, Brettel M, Nimmrich V, Schnölzer M, Herrmann H (2000). "Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis". J. Cell. Sci. 113 (13): 2471–83. PMID 10852826. Vancouver style error (help)
- Mertens C, Hofmann I, Wang Z, Teichmann M, Sepehri Chong S, Schnölzer M et al. (2001). "Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2". Proc. Natl. Acad. Sci. U.S.A. 98 (14): 7795–800. doi:10.1073/pnas.141219498. PMC 35421. PMID 11416169. Vancouver style error (help)
- Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ (2002). "Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling". J. Biol. Chem. 277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID 11790773.
- Müller J, Ritt DA, Copeland TD, Morrison DK (2003). "Functional analysis of C-TAK1 substrate binding and identification of PKP2 as a new C-TAK1 substrate". EMBO J. 22 (17): 4431–42. doi:10.1093/emboj/cdg426. PMC 202368. PMID 12941695. Vancouver style error (help)
- Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
- Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Curr. Biol. 14 (16): 1436–50. doi:10.1016/j.cub.2004.07.051. PMID 15324660.
- Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA et al. (2004). "Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy". Nat. Genet. 36 (11): 1162–4. doi:10.1038/ng1461. PMID 15489853.
- Benzinger A, Muster N, Koch HB, Yates JR, Hermeking H (2005). "Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer". Mol. Cell Proteomics 4 (6): 785–95. doi:10.1074/mcp.M500021-MCP200. PMID 15778465.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Syrris P, Ward D, Asimaki A, Sen-Chowdhry S, Ebrahim HY, Evans A et al. (2006). "Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy". Circulation 113 (3): 356–64. doi:10.1161/CIRCULATIONAHA.105.561654. PMID 16415378.
- Dalal D, Molin LH, Piccini J, Tichnell C, James C, Bomma C et al. (2006). "Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2". Circulation 113 (13): 1641–9. doi:10.1161/CIRCULATIONAHA.105.568642. PMID 16549640.
- van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA et al. (2006). "Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy". Circulation 113 (13): 1650–8. doi:10.1161/CIRCULATIONAHA.105.609719. PMID 16567567.
- Kannankeril PJ, Bhuiyan ZA, Darbar D, Mannens MM, Wilde AA, Roden DM (2007). "Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family". Heart rhythm : the official journal of the Heart Rhythm Society 3 (8): 939–44. doi:10.1016/j.hrthm.2006.04.028. PMID 16876743.
- Dalal D, James C, Devanagondi R, Tichnell C, Tucker A, Prakasa K et al. (2006). "Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy". J. Am. Coll. Cardiol. 48 (7): 1416–24. doi:10.1016/j.jacc.2006.06.045. PMID 17010805.
External links
- GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
- OMIM entries on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
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