PKP1

PKP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1XM9
Identifiers
Aliases	PKP1, B6P, plakophilin 1
External IDs	MGI: 1328359 HomoloGene: 253 GeneCards: PKP1
Genetically Related Diseases
panic disorder[1]
Gene ontology Molecular function • structural constituent of epidermis • protein binding • intermediate filament binding • signal transducer activity • lamin binding Cellular component • intracellular membrane-bounded organelle • cell junction • extracellular exosome • intermediate filament • nucleoplasm • plasma membrane • nucleus • desmosome Biological process • multicellular organism development • single organismal cell-cell adhesion • intermediate filament bundle assembly • signal transduction • cell adhesion Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5317	18772
Ensembl	ENSG00000081277	ENSMUSG00000026413
UniProt	Q13835	P97350
RefSeq (mRNA)	NM_001005337 NM_000299	NM_019645 NM_001313701
RefSeq (protein)	NP_000290.2 NP_001005337.1	NP_001300630.1 NP_062619.1
Location (UCSC)	Chr 1: 201.28 – 201.33 Mb	Chr 1: 135.87 – 135.92 Mb
PubMed search	[2]	[3]
Wikidata

View/Edit Human

View/Edit Mouse

Plakophilin-1 is a protein that in humans is encoded by the PKP1 gene.^[4][5]

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 protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome.^[5]

Interactions

PKP1 has been shown to interact with Desmoplakin.^[6]

See also

• Skin fragility syndrome

References

1. "Diseases that are genetically associated with PKP1 view/edit references on wikidata".
2. "Human PubMed Reference:".
3. "Mouse PubMed Reference:".
4. Cowley CM, Simrak D, Spurr NK, Arnemann J, Buxton RS (September 1997). "The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively". Hum Genet. 100 (3-4): 486–8. doi:10.1007/s004390050539. PMID 9272178.
5. "Entrez Gene: PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)".
6. Hofmann I, Mertens C, Brettel M, Nimmrich V, Schnölzer M, Herrmann H (July 2000). "Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis". J. Cell. Sci. 113. ( Pt 13): 2471–83. PMID 10852826.

Further reading

• Hatzfeld M, Kristjansson GI, Plessmann U, Weber K (1995). "Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family.". J. Cell. Sci. 107. ( Pt 8): 2259–70. PMID 7527055.
• Heid HW, Schmidt A, Zimbelmann R, Schäfer S, Winter-Simanowski S, Stumpp S, Keith M, Figge U, Schnölzer M, Franke WW (1995). "Cell type-specific desmosomal plaque proteins of the plakoglobin family: plakophilin 1 (band 6 protein).". Differentiation. 58 (2): 113–31. doi:10.1046/j.1432-0436.1995.5820113.x. PMID 7890138.
• McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA (1997). "Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.". Nat. Genet. 17 (2): 240–4. doi:10.1038/ng1097-240. PMID 9326952.
• Schmidt A, Langbein L, Rode M, Prätzel S, Zimbelmann R, Franke WW (1998). "Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components.". Cell Tissue Res. 290 (3): 481–99. doi:10.1007/s004410050956. PMID 9369526.
• Smith EA, Fuchs E (1998). "Defining the interactions between intermediate filaments and desmosomes.". J. Cell Biol. 141 (5): 1229–41. doi:10.1083/jcb.141.5.1229. PMC 2137181. PMID 9606214.
• 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.
• 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.
• 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. ( Pt 13): 2471–83. PMID 10852826.
• Hofmann I, Mücke N, Reed J, Herrmann H, Langowski J (2000). "Physical characterization of plakophilin 1 reconstituted with and without zinc.". Eur. J. Biochem. 267 (14): 4381–9. doi:10.1046/j.1432-1327.2000.01483.x. PMID 10880961.
• Whittock NV, Haftek M, Angoulvant N, Wolf F, Perrot H, Eady RA, McGrath JA (2000). "Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.". J. Invest. Dermatol. 115 (3): 368–74. doi:10.1046/j.1523-1747.2000.00082.x. PMID 10951270.
• 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.
• Hamada T, South AP, Mitsuhashi Y, Kinebuchi T, Bleck O, Ashton GH, Hozumi Y, Suzuki T, Hashimoto T, Eady RA, McGrath JA (2002). "Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.". Exp. Dermatol. 11 (2): 107–14. doi:10.1034/j.1600-0625.2002.110202.x. PMID 11994137.
• McMillan JR, Haftek M, Akiyama M, South AP, Perrot H, McGrath JA, Eady RA, Shimizu H (2003). "Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1.". J. Invest. Dermatol. 121 (1): 96–103. doi:10.1046/j.1523-1747.2003.12324.x. PMID 12839569.
• South AP, Wan H, Stone MG, Dopping-Hepenstal PJ, Purkis PE, Marshall JF, Leigh IM, Eady RA, Hart IR, McGrath JA (2004). "Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability.". J. Cell. Sci. 116 (Pt 16): 3303–14. doi:10.1242/jcs.00636. PMID 12840072.
• Cheng X, Mihindukulasuriya K, Den Z, Kowalczyk AP, Calkins CC, Ishiko A, Shimizu A, Koch PJ (2004). "Assessment of splice variant-specific functions of desmocollin 1 in the skin.". Mol. Cell. Biol. 24 (1): 154–63. doi:10.1128/MCB.24.1.154-163.2004. PMC 303333. PMID 14673151.
• Choi HJ, Weis WI (2005). "Structure of the armadillo repeat domain of plakophilin 1.". J. Mol. Biol. 346 (1): 367–76. doi:10.1016/j.jmb.2004.11.048. PMID 15663951.
• Wahl JK (2005). "A role for plakophilin-1 in the initiation of desmosome assembly.". J. Cell. Biochem. 96 (2): 390–403. doi:10.1002/jcb.20514. PMID 15988759.
• Zheng R, Bu DF, Zhu XJ (2006). "Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome.". Acta Derm. Venereol. 85 (5): 394–9. doi:10.1080/00015550510037684. PMID 16159729.