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Symbol PKP1 contributors: mct - updated : 23-06-2015
HGNC name plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
HGNC id 9023
Corresponding disease
EBSPD epidermolysis bullosa simplex, plakophilin-1 deficiency
Location 1q32.1      Physical location : 201.252.579 - 201.302.121
Synonym name protein band 6
Synonym symbol(s) B6P
TYPE functioning gene
STRUCTURE 49.54 kb     15 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
LOC391150 1 similar to Cofilin, non-muscle isoform LOC388723 1 hypothetical gene supported by BC040731 ZNF281 1q32.1 zinc finger protein 281 KIF14 1pter-q31.3 kinesin family member 14 DKFZP564B1023 1q31.3 hypothetical protein DKFZp564B1023 KIAA1078 1q32.1 KIAA1078 protein GPR25 1q32.1 G protein-coupled receptor 25 FLJ10901 1q32.1 hypothetical protein FLJ10901 KIF21B 1pter-q31.3 kinesin family member 21B CACNA1S 1q32 calcium channel, voltage-dependent, L type, alpha 1S subunit TMEM9 1q41 transmembrane protein 9 LOC388724 1 similar to hypothetical protein FLJ37794 DKFZp434B1231 1q32.1 eEF1A2 binding protein PKP1 1q32 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) TNNT2 1q32 troponin T2, cardiac LAD1 1q25.1-q32.3 ladinin 1 TNNI1 1q31.3 troponin I, skeletal, slow PHLDA3 1q31.3-q32.1 pleckstrin homology-like domain, family A, member 3 CSRP1 1q32.1 cysteine and glycine-rich protein 1 LOC388725 1 similar to mKIAA1151 protein NAV1 1q32.1 neuron navigator 1 IPO9 1q31.3 importin 9 LOC149345 LMOD1 1q32 leiomodin 1 (smooth muscle) TIMM17A 1q31.3-q32 translocase of inner mitochondrial membrane 17 homolog A (yeast) LOC391151 1 similar to 60S ribosomal protein L10 (QM protein homolog) RNPEP 1q32.1-q32.2 arginyl aminopeptidase (aminopeptidase B) ELF3 1q32.2 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) ET(B)R-LP-2 1q32.1 endothelin type b receptor-like protein 2 LOC127829 PTPN7 1q32.1 protein tyrosine phosphatase, non-receptor type 7 LOC388726 1 similar to osteotesticular protein tyrosine phosphatase LOC148713 1q32.1 similar to Osteotesticular phosphatase; protein tyrosine phosphatase, receptor type, V
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 splicing 5364 - 726 in nuclei and desmosomal plaques 1998 9721216
15 splicing 5447 82.9 747 only in nuclei 1998 9721216
  • PKP1B
  • using exon 7
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  predominantly
    Lymphoid/Immunethymus   highly
    Reproductivemale systemprostate  moderately
    Respiratorylung   moderately
     respiratory tractlarynx  highly
    Urinarybladder   moderately
    Visualeye   moderately
    cell lineage
    cell lines
    at STAGE
  • a N terminal head domain including a potential coiled-coil forming alpha-helix segment, and head domains of PKP1 and PKP2 were sufficient to bind single-stranded DNA
  • a central domain with ten repeats of the Armadillo motif
  • a C terminal tail domain, with AAs 686-726 required for its localization to the plasma membrane
    interspecies homolog to Drosophila Armadillo segment polarity gene
    ortholog to murine Pkp1
  • beta-catenin family
  • arm-repeat (armadillo) family
  • plakophilin gene family
  • CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,desmosome
    intracellular,cytoplasm,cytoskeleton,intermed filament
  • of the three Pkps, PKP1 is most readily detected in the nucleus, where it is localized to the nucleoplasm
  • basic FUNCTION
  • enhancing lateral interaction between desmoplakines molecules
  • involved in cutaneous cell-cell interaction and epidermal morphogenesis
  • playing a role in junctional plaques
  • plays an important role in desmosome stability and/or assembly
  • significant role of PKP1 in stabilization of desmosome structure and function, predominantly in the spinous layers of the epidermis (pMID: 19945625)
  • is a regulator of translation and proliferation via modulation of EIF4A1 activity and suggest that PKP1 controls cell growth in physiological and pathological conditions
  • in addition to mediating desmosome assembly, the nuclear pool of PKP1, PKP2 can influence cell survival by interactions with DNA
  • armadillo family protein critical for desmosomal adhesion and epidermal integrity
  • PKP1 expression transforms desmosome adhesion from a calcium-dependent to a calcium-independent and hyperadhesive state
  • CELLULAR PROCESS cell communication
    cell migration & motility
    signaling signal transduction
    a component essential plaque protein of desmosomes in stratified epithelia with desmosomal location
    small molecule metal binding,
  • Zn2+
  • protein
  • desmogleins
  • desmocollins
  • direct association of PKP1 with the eukaryotic translation initiation factor 4A1 (EIF4A1), and PKP1 directly promoted EIF4A1 adenosine triphosphatase activity
  • PKP1 associates specifically with nuclear components
  • binding of PKP1/3 to FXR1 was RNA independent, and both PKP3 and FXR1 stabilized PKP2 mRNA
  • cell & other
    corresponding disease(s) EBSPD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    PKP1 loss secondary to promoter methylation, as well as other mechanisms, may promote the progression of Barrett esophagus (BE) to esophageal adenocarcinoma (EAC) in a subset of patients via decreased desmosome assembly and increased cell motility
    constitutional     --low  
    results in an integral weakness within the desmosomal plaque, leading to desmosomal detachment and cell-cell separation
    Variant & Polymorphism
    Candidate gene
    Therapy target