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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PKP1
plakophilin 1
Chromosome 1 Β· 1q32.1
NCBI Gene: 5317Ensembl: ENSG00000081277.13HGNC: HGNC:9023UniProt: Q13835
120PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIDNA bindingnegative regulation of mRNA catabolic processprotein bindingepidermolysis bullosa simplex due to plakophilin deficiencyseborrheic keratosisskin agingskin disease
✦AI Summary

PKP1 (plakophilin 1) is a desmosomal plaque protein that functions primarily in cell-cell adhesion and cellular integrity. At the molecular level, PKP1 localizes to desmosomes at the cell membrane-cytoplasm interface and regulates desmosome protein expression, localization, and anchorage to intermediate filaments 1. PKP1 is required for DSG3 and YAP1 localization to cell membranes in keratinocytes under mechanical strain 2 and positively regulates keratinocyte differentiation and proliferation during development 3. Beyond adhesion functions, PKP1 promotes cap-dependent translation by recruiting EIF4A1 to translation initiation complexes 41 and regulates mRNA stability of desmosomal components through interaction with FXR1 5. Loss-of-function PKP1 mutations cause ectodermal dysplasia-skin fragility syndrome (EDSF), characterized by skin erosions, palmoplantar hyperkeratosis, and ectodermal abnormalities 6. Notably, PKP1 exhibits contradictory roles in cancer: while downregulated in prostate cancer (suggesting tumor-suppressive functions) 7, it is recurrently overexpressed in squamous cell lung cancer where it enhances MYC translation through a feedforward loop with MYC transcription 8. In esophageal squamous carcinoma, a PKP1-containing prognostic signature correlates with patient survival and drug sensitivity 9. PKP1's role in breast cancer involves lncRNA APPAT-mediated regulation via the miR-328a/PKP1 pathway 10.

Sources cited
1
PKP1 is a desmosomal component required for positive regulation of cellular adhesion and maintains cell sheet integrity
PMID: 23444369
2
PKP1 is required for localization of DSG3 and YAP1 to the cell membrane in keratinocytes in response to mechanical strain
PMID: 31835537
3
PKP1 promotes keratinocyte proliferation and morphogenesis during postnatal development
PMID: 9326952
4
PKP1 positively regulates cap-dependent translation and cell proliferation via EIF4A1 recruitment
PMID: 20156963
5
PKP1 regulates mRNA stability and protein abundance of desmosomal components via FXR1 interaction
PMID: 25225333
6
Loss of PKP1 causes ectodermal dysplasia-skin fragility syndrome with skin erosions and palmoplantar hyperkeratosis
PMID: 19945625
7
PKP1 is frequently downregulated in prostate cancer, suggesting a tumor-suppressive role
PMID: 26138584
8
PKP1 is overexpressed in squamous cell lung cancer and enhances MYC translation through a feedforward loop with MYC transcription
PMID: 35182388
9
A four-gene prognostic signature including PKP1 discriminates survival status in esophageal squamous carcinoma and correlates with drug sensitivity
PMID: 40281492
10
LncRNA APPAT regulates breast cancer progression through the miR-328a/PKP1 signaling pathway
PMID: 32495884
Disease Associationsβ“˜21
epidermolysis bullosa simplex due to plakophilin deficiencyOpen Targets
0.77Strong
seborrheic keratosisOpen Targets
0.39Weak
skin agingOpen Targets
0.35Weak
skin diseaseOpen Targets
0.33Weak
congenital anomaly of cardiovascular systemOpen Targets
0.33Weak
knee fractureOpen Targets
0.31Weak
genetic disorderOpen Targets
0.19Weak
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
squamous cell carcinomaOpen Targets
0.07Suggestive
ovarian cancerOpen Targets
0.06Suggestive
non-small cell lung carcinomaOpen Targets
0.05Suggestive
erythrokeratodermia variabilisOpen Targets
0.05Suggestive
ulerythema ophryogenesisOpen Targets
0.05Suggestive
epilepsyOpen Targets
0.05Suggestive
KRT14-related epidermolysis bullosa simplexOpen Targets
0.04Suggestive
dystrophic epidermolysis bullosa pruriginosaOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
pretibial dystrophic epidermolysis bullosaOpen Targets
0.04Suggestive
Generalized epidermolysis bullosa simplex, non-Dowling-Meara typeOpen Targets
0.04Suggestive
mycosis fungoidesOpen Targets
0.04Suggestive
Ectodermal dysplasia-skin fragility syndromeUniProt
Pathogenic Variants9
NM_001005337.3(PKP1):c.841C>T (p.Gln281Ter)Likely pathogenic
Epidermolysis bullosa simplex due to plakophilin deficiency
β˜…β˜†β˜†β˜†2016β†’ Residue 281
NM_001005337.3(PKP1):c.1840C>T (p.Gln614Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 614
NM_001005337.3(PKP1):c.203-1G>CLikely pathogenic
Epidermolysis bullosa simplex due to plakophilin deficiency
β˜…β˜†β˜†β˜†
NM_001005337.3(PKP1):c.2021+1G>APathogenic
Epidermolysis bullosa simplex due to plakophilin deficiency
β˜†β˜†β˜†β˜†2020
NM_001005337.3(PKP1):c.1233-2A>GPathogenic
Epidermolysis bullosa simplex due to plakophilin deficiency
β˜†β˜†β˜†β˜†2020
NM_001005337.3(PKP1):c.889del (p.Arg297fs)Pathogenic
Epidermolysis bullosa simplex due to plakophilin deficiency
β˜†β˜†β˜†β˜†2020β†’ Residue 297
NM_001005337.3(PKP1):c.1233-2A>TPathogenic
Epidermolysis bullosa simplex due to plakophilin deficiency
β˜†β˜†β˜†β˜†2000
NM_001005337.3(PKP1):c.1107_1134dup (p.Val379fs)Pathogenic
Epidermolysis bullosa simplex due to plakophilin deficiency
β˜†β˜†β˜†β˜†1997β†’ Residue 379
NM_001005337.3(PKP1):c.910C>T (p.Gln304Ter)Pathogenic
Epidermolysis bullosa simplex due to plakophilin deficiency
β˜†β˜†β˜†β˜†1997β†’ Residue 304
View on ClinVar β†—
Related Genes
DSC1Protein interaction95%DSC2Protein interaction95%DSG2Protein interaction95%DSPProtein interaction95%JUPProtein interaction95%SPRR1BProtein interaction94%
Tissue Expression6 tissues
Lung
100%
Liver
13%
Heart
7%
Ovary
7%
Brain
7%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
PKP1DSC1DSC2DSG2DSPJUPSPRR1B
PROTEIN STRUCTURE
Preparing viewer…
PDB1XM9 Β· 2.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.50Moderately Constrained
pLIβ“˜
0.97Intolerant
Observed/Expected LoF0.36 [0.26–0.50]
RankingsWhere PKP1 stands among ~20K protein-coding genes
  • #3,932of 20,598
    Most Researched120 Β· top quartile
  • #2,937of 5,498
    Most Pathogenic Variants9
  • #2,983of 17,882
    Most Constrained (LOEUF)0.50 Β· top quartile
Genes detectedPKP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Plakophilin 1 in carcinogenesis.
PMID: 38888207
Mol Carcinog Β· 2024
1.00
2
Multi-omics analysis unveils a four-gene prognostic signature in esophageal squamous carcinoma and the therapeutic potential of PKP1.
PMID: 40281492
BMC Cancer Β· 2025
0.90
3
Ectodermal dysplasia-skin fragility syndrome.
PMID: 19945625
Dermatol Clin Β· 2010
0.80
4
PKP1 and MYC create a feedforward loop linking transcription and translation in squamous cell lung cancer.
PMID: 35182388
Cell Oncol (Dordr) Β· 2022
0.70
5
LncRNA APPAT regulated miR-328a/Pkp1 signal pathway to participate in breast cancer.
PMID: 32495884
Eur Rev Med Pharmacol Sci Β· 2020
0.60