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MGP002305

UniProt Annotations

Entry Information
Gene Nameplakophilin 1
Protein EntryPKP1_HUMAN
UniProt IDQ13835
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=2; Synonyms=1b; IsoId=Q13835-1; Sequence=Displayed; Name=1; Synonyms=1a; IsoId=Q13835-2; Sequence=VSP_006735;
DiseaseEctodermal 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.
FunctionSeems to play a role in junctional plaques. Contributes to epidermal morphogenesis. {ECO:0000269|PubMed:9326952}.
InteractionP15924:DSP; NbExp=2; IntAct=EBI-9087684, EBI-355041; P02533:KRT14; NbExp=2; IntAct=EBI-9087684, EBI-702178; P05783:KRT18; NbExp=4; IntAct=EBI-9087684, EBI-297888; P13647:KRT5; NbExp=2; IntAct=EBI-9087684, EBI-702187; P05787:KRT8; NbExp=3; IntAct=EBI-9087684, EBI-297852; P08670:VIM; NbExp=3; IntAct=EBI-9087684, EBI-353844;
SimilarityBelongs to the beta-catenin family. {ECO:0000305}.
SimilarityContains 9 ARM repeats. {ECO:0000255|PROSITE- ProRule:PRU00259}.
Subcellular LocationIsoform 1: Nucleus. Cell junction, desmosome.
Subcellular LocationNucleus.
Tissue SpecificityIsoform 2 is widely expressed. Isoform 1 is expressed in stratified squamous, complex, glandular duct and bladder epithelia.
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