Property Summary

NCBI Gene PubMed Count 44
PubMed Score 73.84
PubTator Score 86.81

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
esophageal adenocarcinoma -3.400 1.9e-02
psoriasis 2.300 2.5e-07
non-small cell lung cancer 3.622 5.3e-13
interstitial cystitis -1.900 1.6e-03
spina bifida -1.680 4.0e-02
Breast cancer -2.000 2.1e-06

 GWAS Trait (1)

Protein-protein Interaction (6)

Gene RIF (28)

PMID Text
27015268 These results implicate the participation of PKP1 in early tooth morphogenesis as an effector of canonical Wnt signaling that controls ameloblast differentiation via regulation of the cell adhesion complex
26138584 Collectively, altered expression of PKP1 and SPOCK1 appears to be a frequent and critical event in prostate cancer
25631074 Cellular biotinylated plakophilin 1 protein (PKP1) is incorporated into HIV-1 Gag virus-like particles
25225333 cytoplasmic PKP1/3 are components of mRNA ribonucleoprotein particles and act as posttranscriptional regulators of gene expression.
24056861 Plakophilin-1 has a role in protecting keratinocytes from pemphigus vulgaris IgG by forming calcium-independent desmosomes
23444369 Data indicate that upon activation of growth factor signaling, plakophilin 1 switches from a desmosome-associated growth-inhibiting to a cytoplasmic proliferation-promoting function.
22170739 PKP1 loss secondary to promoter methylation, as well as other mechanisms, may promote the progression of Barrett's esophagus to esophageal adenocarcinoma in a subset of patients via decreased desmosome assembly and increased cell motility
21947748 In breast cancer, compared with normal tissue, PKP1 and PKP2 expressions were indifferent (P > 0.05), but PKP3 expression was significantly increased
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20613778 in addition to mediating desmosome assembly, the nuclear pool of Pkp can influence cell survival by interactions with DNA
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20348237 both loss of PKP1 and up-regulation of PKP3 expression are biologically important events in prostate cancer and are associated with a more aggressive phenotype
20156963 These findings identify PKP1 as a regulator of translation and proliferation via modulation of eIF4A1 activity.
19945625 the clinicopathologic features attest to the significant role of PKP1 in stabilization of desmosome structure and function, predominantly in the spinous layers of the epidermis
19913121 Observational study of gene-disease association. (HuGE Navigator)
19165232 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19016709 a homozygous nonsense mutation, p.R672X, in the PKP1 gene is similar to the molecular pathology underlying other cases of ectodermal dysplasia-skin fragility syndrome
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17668353 Loss of plakophilin-1 expression during head and neck squamous cell carcinoma (HNSCC) progression may contribute to an invasive phenotype.
17593084 The Ki67+ proliferation index was inversely correlated with desmoplakin and plakophilin-1 during cervical squamous cell carcinogenesis
16632867 the Plakophilin-1 carboxyl terminus recruits it to plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly
16159729 Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome
15988759 Co-expression of a classical cadherin (N-cadherin) and plakophilin-1/ER in A431D cells resulted in punctate desmoplakin staining at cell-cell borders
15663951 crystal structure of the arm repeat domain from plakophilin-1 (PKP1), a member of the p120ctn subfamily that is found in desmosomes
12840072 plakophilin 1 has a key role in increasing desmosomal protein content, in desmosome assembly, and in regulating cell migration
12839569 The PKP1 null patients showed poorly developed inner and outer desmosomal plaques and reductions in the lower suprabasal layer desmosome size and number so pkp1 has a recruiting and stabilizing role in desmosome formation
11994137 Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Homozygous intron 11 donor splice site mutation in the plakophilin 1 gene, 2021+1 G>A.

AA Sequence

MNHSPLKTALAYECFQDQDNSTLALPSDQKMKTGTSGRQRVQEQVMMTVKRQKSKSSQSSTLSHSNRGSM      1 - 70
YDGLADNYNYGTTSRSSYYSKFQAGNGSWGYPIYNGTLKREPDNRRFSSYSQMENWSRHYPRGSCNTTGA     71 - 140
GSDICFMQKIKASRSEPDLYCDPRGTLRKGTLGSKGQKTTQNRYSFYSTCSGQKAIKKCPVRPPSCASKQ    141 - 210
DPVYIPPISCNKDLSFGHSRASSKICSEDIECSGLTIPKAVQYLSSQDEKYQAIGAYYIQHTCFQDESAK    211 - 280
QQVYQLGGICKLVDLLRSPNQNVQQAAAGALRNLVFRSTTNKLETRRQNGIREAVSLLRRTGNAEIQKQL    281 - 350
TGLLWNLSSTDELKEELIADALPVLADRVIIPFSGWCDGNSNMSREVVDPEVFFNATGCLRKRLGMRELL    351 - 420
ALVPQRATSSRVNLSSADAGRQTMRNYSGLIDSLMAYVQNCVAASRCDDKSVENCMCVLHNLSYRLDAEV    421 - 490
PTRYRQLEYNARNAYTEKSSTGCFSNKSDKMMNNNYDCPLPEEETNPKGSGWLYHSDAIRTYLNLMGKSK    491 - 560
KDATLEACAGALQNLTASKGLMSSGMSQLIGLKEKGLPQIARLLQSGNSDVVRSGASLLSNMSRHPLLHR    561 - 630
VMGNQVFPEVTRLLTSHTGNTSNSEDILSSACYTVRNLMASQPQLAKQYFSSSMLNNIINLCRSSASPKA    631 - 700
AEAARLLLSDMWSSKELQGVLRQQGFDRNMLGTLAGANSLRNFTSRF                           701 - 747
//

Text Mined References (45)

PMID Year Title
27015268 2016 Plakophilin-1, a Novel Wnt Signaling Regulator, Is Critical for Tooth Development and Ameloblast Differentiation.
26138584 2015 Plakophilin 1-deficient cells upregulate SPOCK1: implications for prostate cancer progression.
25416956 2014 A proteome-scale map of the human interactome network.
25225333 2014 Plakophilins 1 and 3 bind to FXR1 and thereby influence the mRNA stability of desmosomal proteins.
24056861 2014 Plakophilin-1 protects keratinocytes from pemphigus vulgaris IgG by forming calcium-independent desmosomes.
23444369 2013 Insulin signaling via Akt2 switches plakophilin 1 function from stabilizing cell adhesion to promoting cell proliferation.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22170739 2012 Aberrantly methylated PKP1 in the progression of Barrett's esophagus to esophageal adenocarcinoma.
21947748 2012 Expression of Plakophilins (PKP1, PKP2, and PKP3) in breast cancers.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20613778 2010 Plakophilin-1 localizes to the nucleus and interacts with single-stranded DNA.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20348237 2010 Desmosomal plakophilins in the prostate and prostatic adenocarcinomas: implications for diagnosis and tumor progression.
20156963 2010 Plakophilin 1 stimulates translation by promoting eIF4A1 activity.
19945625 2010 Ectodermal dysplasia-skin fragility syndrome.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19165232 2009 Genome-wide association study of panic disorder in the Japanese population.
19016709 2009 Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17668353 Decreased plakophilin-1 expression promotes increased motility in head and neck squamous cell carcinoma cells.
17593084 2007 The Ki67+ proliferation index correlates with increased cellular retinol-binding protein-1 and the coordinated loss of plakophilin-1 and desmoplakin during progression of cervical squamous lesions.
16632867 2006 Carboxyl terminus of Plakophilin-1 recruits it to plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly.
16159729 2005 Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome.
15988759 2005 A role for plakophilin-1 in the initiation of desmosome assembly.
15663951 2005 Structure of the armadillo repeat domain of plakophilin 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12840072 2003 Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability.
12839569 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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11994137 2002 Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.
11790773 2002 Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling.
11500511 2001 The fate of desmosomal proteins in apoptotic cells.
10951270 2000 Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.
10880961 2000 Physical characterization of plakophilin 1 reconstituted with and without zinc.
10852826 2000 Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis.
10374265 1999 Plakophilin 3--a novel cell-type-specific desmosomal plaque protein.
9721216 1998 Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily.
9606214 1998 Defining the interactions between intermediate filaments and desmosomes.
9369526 1997 Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components.
9326952 1997 Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.
9272178 1997 The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively.
7890138 1994 Cell type-specific desmosomal plaque proteins of the plakoglobin family: plakophilin 1 (band 6 protein).
7527055 1994 Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family.