PKP1

Available structures

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)^[1]

Band	1q32.1	Start	201,283,452 bp^[1]
Band	1q32.1	End	201,332,993 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 1 (mouse)^[2]

Band	1\|1 E4	Start	135,799,133 bp^[2]
Band	1\|1 E4	End	135,846,945 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

skin of abdomen

gums

vulva

human penis

nipple

oral cavity

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

BioGPS

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

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 NP_001005337


NP_001300630 NP_062619

Location (UCSC)

Chr 1: 201.28 – 201.33 Mb

Chr 1: 135.8 – 135.85 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

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]

References

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.

v t e PDB gallery
1xm9: Structure of the armadillo repeat domain of plakophilin 1

Proteins of the cytoskeleton

Human

Microfilaments
and ABPs

Myofilament

Actins	A1 A2 B C1 G1 G2
Myosins	I MYO1A MYO1B MYO1C MYO1D MYO1E MYO1F MYO1G MYO1H) II MYH1 MYH2 MYH3 MYH4 MYH6 MYH7 MYH7B MYH8 MYH9 MYH10 MYH11 MYH13 MYH14 MYH15 MYH16 III MYO3A MYO3B V MYO5A MYO5B MYO5C VI MYO6 VII MYO7A MYO7B IX MYO9A MYO9B X MYO10 XV MYO15A XVIII MYO18A MYO18B LC MYL1 MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 MYLIP MYLK MYLK2 MYLL1
Other	Tropomodulin 1 2 3 4 Troponin T 1 2 3 C 1 2 I 1 2 3 Tropomyosin 1 2 3 4 Actinin 1 2 3 4 Arp2/3 complex actin depolymerizing factors Cofilin 1 2 Destrin Gelsolin Profilin 1 2 Titin

Other

Intermediate
filaments

Type 1/2
(Keratin,
Cytokeratin)

Epithelial keratins (soft alpha-keratins)	type I/chromosome 17 9 10 12 13 14 15 16 17 19 20 chromosome 12 18 none 21 type II/chromosome 12 1 2A 3 4 5 6A 6B 6C 7 8
Hair keratins (hard alpha-keratins)	type I/chromosome 17 31 32 33A 33B 34 35 36 37 38 type II/chromosome 12 81 82 83 84 85 86
Ungrouped alpha	chromosome 17 23 24 25 26 27 28 39 40 chromosome 12 71 72 73 74 75 76 77 78 79 80
Not alpha	Beta-keratin

Type 3

Type 4

Type 5

Microtubules
and MAPs

Tubulins	TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA8 TUBB TUBB1 TUBB2A TUBB2B TUBB2C TUBB3 TUBB4 TUBB4Q TUBB6 TUBB8 TUBG1 TUBG2 TUBGCP2 TUBGCP3 TUBGCP4 TUBGCP5 TUBGCP6 TUBD1 TUBE1
MAPs	EB1 EB2 EB3 MAP1A MAP1B MAP2 MAP4
Kinesins	KIF1A KIF1B KIF2A KIF2C KIF3B KIF3C KIF4A KIF4B KIF5A KIF5B KIF5C KIF6 KIF7 KIF9 KIF11 KIF12 KIF13A KIF13B KIF14 KIF15 KIF16B KIF17 KIF18A KIF18B KIF19 KIF20A KIF20B KIF21A KIF21B KIF22 KIF23 KIF24 KIF25 KIF26A KIF26B KIF27 KIFC1 KIFC2 KIFC3
Dyneins	axonemal: DNAH1 DNAH2 DNAH3 DNAH5 DNAH6 DNAH7 DNAH8 DNAH9 DNAH10 DNAH11 DNAH12 DNAH13 DNAH14 DNAH17 DNAI1 DNAI2 DNALI1 DNAL1 DNAL4 cytoplasmic: DYNC1H1 DYNC2H1 DYNC1I1 DYNC1I2 DYNC1LI1 DYNC1LI2 DYNC2LI1 DYNLL1 DYNLL2 DYNLRB1 DYNLRB2 DYNLT1 DYNLT3
Microtubule organising proteins	CAMSAP1 CAMSAP2 CAMSAP3 Centrin 1 Centrin 2 Centrin 3 PCM1
Microtubule severing proteins	Katanin Spastin
Other	Tau protein Dynactin DCTN1 Stathmin Tektin TEKT1 TEKT2 TEKT3 TEKT4 TEKT5 Dynamin DNM1 DNM2 DNM3