Plakophilin-1

PKP1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1XM9
Identifiers
Aliases	PKP1 , B6P, plakophilin 1, EDSFS
External IDs	OMIM: 601975 MGI: 1328359 HomoloGene: 253 GeneCards: PKP1
Gene location (Human)
Chr.	Chromosome 1 (human)
End	201,332,993 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	135,846,945 bp
RNA expression pattern
	Top expressed in
	skin of abdomen; ; gums; ; vulva; ; human penis; ; nipple; ; cavity of mouth; ; body of tongue; ; cervix epithelium; ; epithelium of esophagus; ; vagina;
	Top expressed in
	hair follicle; ; lip; ; skin of back; ; esophagus; ; conjunctival fornix; ; skin of abdomen; ; molar; ; corneal stroma; ; condyle; ; stria vascularis;
	More reference expression data
	n/a
Gene ontology
Molecular function	structural constituent of skin epidermis ; protein binding ; intermediate filament binding ; signal transducer activity ; lamin binding ; cadherin binding ;
Cellular component	intracellular membrane-bounded organelle ; cell junction ; intermediate filament ; nucleoplasm ; plasma membrane ; nucleus ; desmosome ; cornified envelope ; ficolin-1-rich granule membrane ; messenger ribonucleoprotein complex ; cytoplasm ; cell-cell junction ;
Biological process	multicellular organism development ; intermediate filament bundle assembly ; signal transduction ; cell adhesion ; keratinization ; neutrophil degranulation ; cornification ; positive regulation of gene expression ; negative regulation of mRNA catabolic process ; cell-cell adhesion ; cell-cell junction assembly ;
	Sources:Amigo / QuickGO
Orthologs
	5317
	18772
	ENSG00000081277
	ENSMUSG00000026413
	Q13835
	P97350
	NM_001005337 ; NM_000299
	NM_019645 ; NM_001313701
	NP_000290 ; NP_001005337
	NP_001300630 ; NP_062619
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated March 04, 2023

Plakophilin-1 is a protein that in humans is encoded by the PKP1 gene.^[5]^[6]

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.^[6]

Interactions

PKP1 has been shown to interact with Desmoplakin.^[7]

Related Research Articles

A desmosome, also known as a macula adherens, is a cell structure specialized for cell-to-cell adhesion. A type of junctional complex, they are localized spot-like adhesions randomly arranged on the lateral sides of plasma membranes. Desmosomes are one of the stronger cell-to-cell adhesion types and are found in tissue that experience intense mechanical stress, such as cardiac muscle tissue, bladder tissue, gastrointestinal mucosa, and epithelia.

Ectodermal dysplasia (ED) is a group of genetic syndromes all deriving from abnormalities of the ectodermal structures. More than 150 different syndromes have been identified.

Desmoglein-1 is a protein that in humans is encoded by the DSG1 gene. Desmoglein-1 is expressed everywhere in the skin epidermis, but mainly it is expressed in the superficial upper layers of the skin epidermis.

Desmoglein-3 is a protein that in humans is encoded by the DSG3 gene. In the skin epidermis Desmoglein-3 is expressed in the basal lower layers of the epidermis, and dominates in terms of expression on mucosal surfaces compared to Desmoglein-1.

Desmoglein-2 is a protein that in humans is encoded by the DSG2 gene. Desmoglein-2 is highly expressed in epithelial cells and cardiomyocytes. Desmoglein-2 is localized to desmosome structures at regions of cell-cell contact and functions to structurally adhere adjacent cells together. In cardiac muscle, these regions are specialized regions known as intercalated discs. Mutations in desmoglein-2 have been associated with arrhythmogenic right ventricular cardiomyopathy and familial dilated cardiomyopathy.

Desmoplakin is a protein in humans that is encoded by the DSP gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, where it may present with acute myocardial injury; striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus.

Plakoglobin, also known as junction plakoglobin or gamma-catenin, is a protein that in humans is encoded by the JUP gene. Plakoglobin is a member of the catenin protein family and homologous to β-catenin. Plakoglobin is a cytoplasmic component of desmosomes and adherens junctions structures located within intercalated discs of cardiac muscle that function to anchor sarcomeres and join adjacent cells in cardiac muscle. Mutations in plakoglobin are associated with arrhythmogenic right ventricular dysplasia.

Hay–Wells syndrome is one of at least 150 known types of ectodermal dysplasia. These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails.

Ectodysplasin A (EDA) is a protein that in humans is encoded by the EDA gene.

Desmocollin-2 is a protein that in humans is encoded by the DSC2 gene. Desmocollin-2 is a cadherin-type protein that functions to link adjacent cells together in specialized regions known as desmosomes. Desmocollin-2 is widely expressed, and is the only desmocollin isoform expressed in cardiac muscle, where it localizes to intercalated discs. Mutations in DSC2 have been causally linked to arrhythmogenic right ventricular cardiomyopathy.

Desmocollin-1 is a protein that in humans is encoded by the DSC1 gene.

Plakophilin-4 is a protein that in humans is encoded by the PKP4 gene.

Desmocollin-3 is a protein that in humans is encoded by the DSC3 gene.

Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene. Plakophilin 2 is expressed in skin and cardiac muscle, where it functions to link cadherins to intermediate filaments in the cytoskeleton. In cardiac muscle, plakophilin-2 is found in desmosome structures located within intercalated discs. Mutations in PKP2 have been shown to be causal in arrhythmogenic right ventricular cardiomyopathy.

Plakophilin-3 is a protein that in humans is encoded by the PKP3 gene.

Desmocollins are a subfamily of desmosomal cadherins, the transmembrane constituents of desmosomes. They are co-expressed with desmogleins to link adjacent cells by extracellular adhesion. There are seven desmosomal cadherins in humans, three desmocollins and four desmogleins. Desmosomal cadherins allow desmosomes to contribute to the integrity of tissue structure in multicellular living organisms.

Plakophilin are proteins of the cytoskeleton. They are involved in regulating the adhesive activity of cadherin.

Skin fragility syndrome is a cutaneous condition characterized by trauma-induced blisters and erosions.

Acro–dermato–ungual–lacrimal–tooth syndrome is a rare genetic disease. It is an autosomal dominant form of ectodermal dysplasia, a group of disorders that affects the hair, teeth, nails, sweat glands, and extremities. The syndrome arises from a mutation in the TP63 gene. This disease was previously thought to be a form of ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC), but was classified as a different disease in 1993 by Propping and Zerres.

Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a very rare genetic disorder which is characterized by fragile skin which shows itself as blisters and erosion due to trauma that wouldn't typically cause those type of lesions, woolly hair with alopecia, nail dysplasia, widespread or local palmoplantar keratoderma associated with painful fissuring. Only 2 cases from two families have been described in medical literature.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000081277 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026413 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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. S2CID 12384017.
1 2 "Entrez Gene: PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)".
↑ 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) (13): 2471–83. doi:10.1242/jcs.113.13.2471. PMID 10852826.

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) (8): 2259–70. doi:10.1242/jcs.107.8.2259. 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. S2CID 23284411.
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. S2CID 6183059.
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) (13): 2471–83. doi:10.1242/jcs.113.13.2471. 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. S2CID 37777985.
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. S2CID 25717190.
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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000081277 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026413 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9272178-5] 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. S2CID 12384017.

[entrez-6] 1 2 "Entrez Gene: PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)".

[pmid10852826-7] 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) (13): 2471–83. doi:10.1242/jcs.113.13.2471. PMID 10852826.

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Plakophilin-1

Contents

Function

Interactions

See also

Related Research Articles

References

Further reading