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Aliases for PKP1 Gene

Aliases for PKP1 Gene

  • Plakophilin 1 2 3 5
  • Band 6 Protein 3 4
  • B6P 3 4
  • Plakophilin 1 (Ectodermal Dysplasia/Skin Fragility Syndrome) 2
  • Ectodermal Dysplasia/Skin Fragility Syndrome 2
  • Plakophilin-1 3

External Ids for PKP1 Gene

Previous GeneCards Identifiers for PKP1 Gene

  • GC01P198976
  • GC01P196710
  • GC01P197719
  • GC01P198540
  • GC01P197984
  • GC01P199519
  • GC01P172418

Summaries for PKP1 Gene

Entrez Gene Summary for PKP1 Gene

  • 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

GeneCards Summary for PKP1 Gene

PKP1 (Plakophilin 1) is a Protein Coding gene. Diseases associated with PKP1 include Ectodermal Dysplasia/Skin Fragility Syndrome and Ectodermal Dysplasia. Among its related pathways are Apoptotic cleavage of cellular proteins and Keratinization. Gene Ontology (GO) annotations related to this gene include binding and lamin binding. An important paralog of this gene is PKP2.

UniProtKB/Swiss-Prot for PKP1 Gene

  • Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.

Gene Wiki entry for PKP1 Gene

Additional gene information for PKP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKP1 Gene

Genomics for PKP1 Gene

GeneHancer (GH) Regulatory Elements for PKP1 Gene

Promoters and enhancers for PKP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J201282 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 650.7 +3.7 3661 8.6 HDGF CTCF ESRRA SUZ12 NFIB NEUROD1 E2F1 CTBP1 GATA3 POLR2A GC01P201285 PKP1 IGFN1 LAD1 ASCL5 LGR6 GC01M201335
GH01J201305 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 25.2 +26.2 26162 7.5 HDGF PKNOX1 FOXA2 CLOCK MLX ARID4B NEUROD1 SIN3A ZBTB7B YY1 PKP1 LAD1 ENSG00000229821 IGFN1 ASCL5 CACNA1S ELF3-AS1 INAVA GC01P201285 GC01M201335
GH01J201334 Enhancer 0.7 ENCODE dbSUPER 20.6 +51.8 51831 1.7 MITF ATF4 CEBPB CEBPG ATF2 PKP1 TNNT2 LAD1 IGFN1 TMEM9 GC01M201335 GC01P201285
GH01J201346 Enhancer 0.9 ENCODE dbSUPER 15.7 +63.1 63090 0.9 CTCF PKNOX1 TEAD4 ZSCAN4 SIN3A RAD21 TEAD3 CTBP1 GATA3 ZNF143 PKP1 TNNT2 LAD1 ENSG00000229821 IGFN1 TMEM9 GC01M201335 LOC101929326
GH01J201394 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.3 +114.9 114934 7.7 HDGF FOXA2 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B ZNF48 YY1 SLC30A9 LAD1 LOC101929343 TNNI1 IGFN1 PKP1 CSRP1 TNNT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PKP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PKP1 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • NF-1
  • GR-beta
  • GR-alpha
  • GR
  • Zic3
  • SRF
  • SRF (504 AA)

Genomic Locations for PKP1 Gene

Genomic Locations for PKP1 Gene
49,542 bases
Plus strand
49,542 bases
Plus strand

Genomic View for PKP1 Gene

Genes around PKP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKP1 Gene

Proteins for PKP1 Gene

  • Protein details for PKP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • O00645
    • Q14CA0
    • Q15152

    Protein attributes for PKP1 Gene

    747 amino acids
    Molecular mass:
    82861 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PKP1 Gene

    Alternative splice isoforms for PKP1 Gene


neXtProt entry for PKP1 Gene

Post-translational modifications for PKP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PKP1 Gene

No data available for DME Specific Peptides for PKP1 Gene

Domains & Families for PKP1 Gene

Gene Families for PKP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PKP1 Gene

Suggested Antigen Peptide Sequences for PKP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the beta-catenin family.
  • Belongs to the beta-catenin family.
genes like me logo Genes that share domains with PKP1: view

Function for PKP1 Gene

Molecular function for PKP1 Gene

UniProtKB/Swiss-Prot Function:
Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.
GENATLAS Biochemistry:
plakophilin 1,essential plaque protein of desmosomes in stratified epithelia with desmosomal location,interacting with desmogleins and desmocollins,involved in cutaneous cell-cell interaction and epidermal morphogenesis,homologous to Drosophila Armadillo segment polarity gene,enhancing lateral interaction between desmoplakines molecules

Phenotypes From GWAS Catalog for PKP1 Gene

Gene Ontology (GO) - Molecular Function for PKP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 obsolete signal transducer activity TAS --
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 10852826
GO:0005521 lamin binding IDA 10852826
GO:0019215 intermediate filament binding NAS 10852826
genes like me logo Genes that share ontologies with PKP1: view
genes like me logo Genes that share phenotypes with PKP1: view

Human Phenotype Ontology for PKP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PKP1 Gene

MGI Knock Outs for PKP1:
  • Pkp1 Pkp1<tm2d(KOMP)Wtsi>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PKP1 Gene

Localization for PKP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKP1 Gene

Isoform 1: Nucleus. Cell junction, desmosome.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PKP1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PKP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005634 nucleus NAS,IDA 9369526
GO:0005654 nucleoplasm IDA --
GO:0005882 intermediate filament TAS 7527055
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with PKP1: view

Pathways & Interactions for PKP1 Gene

genes like me logo Genes that share pathways with PKP1: view

Pathways by source for PKP1 Gene

Gene Ontology (GO) - Biological Process for PKP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion NAS 10852826
GO:0007165 signal transduction NAS 7527055
GO:0007275 multicellular organism development IEA --
GO:0010628 positive regulation of gene expression IMP 25225333
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with PKP1: view

No data available for SIGNOR curated interactions for PKP1 Gene

Drugs & Compounds for PKP1 Gene

(1) Drugs for PKP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PKP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PKP1: view

Transcripts for PKP1 Gene

mRNA/cDNA for PKP1 Gene

Unigene Clusters for PKP1 Gene

Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PKP1 Gene

No ASD Table

Relevant External Links for PKP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PKP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PKP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKP1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x17.3), Skin - Not Sun Exposed (Suprapubic) (x14.9), Esophagus - Mucosa (x10.1), and Vagina (x4.3).

Protein differential expression in normal tissues from HIPED for PKP1 Gene

This gene is overexpressed in Hair follicle (49.7) and Saliva (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PKP1 Gene

Protein tissue co-expression partners for PKP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PKP1 Gene:


SOURCE GeneReport for Unigene cluster for PKP1 Gene:


mRNA Expression by UniProt/SwissProt for PKP1 Gene:

Tissue specificity: Isoform 2 is widely expressed. Isoform 1 is expressed in stratified squamous, complex, glandular duct and bladder epithelia.

Evidence on tissue expression from TISSUES for PKP1 Gene

  • Skin(4.8)
  • Lung(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PKP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tongue
  • tooth
  • intestine
  • large intestine
  • small intestine
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood
  • blood vessel
  • hair
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with PKP1: view

Orthologs for PKP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PKP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PKP1 34 33
  • 99.59 (n)
(Canis familiaris)
Mammalia -- 34
  • 95 (a)
-- 34
  • 95 (a)
LOC100855871 33
  • 91.46 (n)
(Mus musculus)
Mammalia Pkp1 16 34 33
  • 91.32 (n)
(Rattus norvegicus)
Mammalia Pkp1 33
  • 89.9 (n)
(Bos Taurus)
Mammalia PKP1 34 33
  • 89.35 (n)
(Monodelphis domestica)
Mammalia PKP1 34
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia PKP1 34
  • 77 (a)
(Gallus gallus)
Aves PKP1 34 33
  • 73.16 (n)
(Anolis carolinensis)
Reptilia PKP1 34
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pkp1 33
  • 59.39 (n)
(Danio rerio)
Actinopterygii pkp1b 34 33
  • 51.55 (n)
pkp1a 34
  • 41 (a)
Species where no ortholog for PKP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PKP1 Gene

Gene Tree for PKP1 (if available)
Gene Tree for PKP1 (if available)
Evolutionary constrained regions (ECRs) for PKP1: view image

Paralogs for PKP1 Gene

Paralogs for PKP1 Gene

(4) SIMAP similar genes for PKP1 Gene using alignment to 2 proteins:

  • Q14BN3_HUMAN
genes like me logo Genes that share paralogs with PKP1: view

Variants for PKP1 Gene

Sequence variations from dbSNP and Humsavar for PKP1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1015087848 uncertain-significance, Ectodermal dysplasia skin fragility syndrome 201,331,450(+) C/G/T 3_prime_UTR_variant
rs1046962 benign, Ectodermal dysplasia skin fragility syndrome 201,332,745(+) A/G/T 3_prime_UTR_variant
rs1046970 benign, Ectodermal dysplasia skin fragility syndrome 201,332,778(+) C/G 3_prime_UTR_variant
rs10800772 benign, Ectodermal dysplasia skin fragility syndrome 201,331,730(+) C/A 3_prime_UTR_variant
rs10920171 uncertain-significance, Ectodermal dysplasia skin fragility syndrome 201,320,359(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PKP1 Gene

Variant ID Type Subtype PubMed ID
esv1197580 CNV insertion 17803354
esv2667516 CNV deletion 23128226
esv3355674 CNV duplication 20981092
esv3588569 CNV loss 21293372
esv992760 CNV insertion 20482838
nsv1002728 CNV gain 25217958
nsv467961 CNV gain 19166990
nsv470776 CNV gain 18288195
nsv480396 CNV novel sequence insertion 20440878
nsv548996 CNV loss 21841781
nsv548997 CNV gain 21841781
nsv947466 CNV duplication 23825009

Variation tolerance for PKP1 Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.93; 74.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PKP1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKP1 Gene

Disorders for PKP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PKP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PKP1 in MalaCards View complete list of genes associated with diseases


  • Ectodermal dysplasia-skin fragility syndrome (EDSFS) [MIM:604536]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PKP1 Gene

cutaneous fragility and congenital ectodermal dysplasia affecting skin,hair and nails

Additional Disease Information for PKP1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PKP1: view

Publications for PKP1 Gene

  1. Genome-wide association study of panic disorder in the Japanese population. (PMID: 19165232) Otowa T … Okazaki Y (Journal of human genetics 2009) 3 22 44 58
  2. Structure of the armadillo repeat domain of plakophilin 1. (PMID: 15663951) Choi HJ … Weis WI (Journal of molecular biology 2005) 3 4 22 58
  3. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. (PMID: 9326952) McGrath JA … Eady RA (Nature genetics 1997) 3 4 22 58
  4. Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. (PMID: 9369526) Schmidt A … Franke WW (Cell and tissue research 1997) 3 4 22 58
  5. The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively. (PMID: 9272178) Cowley CM … Buxton RS (Human genetics 1997) 2 3 22 58

Products for PKP1 Gene

Sources for PKP1 Gene

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