Plakophilin-1

Plakophilin-1 is a protein that in humans is encoded by the PKP1 gene.^[5][6]

PKP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1XM9
Identifiers
Aliases	PKP1, B6P, plakophilin 1, EDSFS
External IDs	OMIM: 601975; MGI: 1328359; HomoloGene: 253; GeneCards: PKP1; OMA:PKP1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q32.1 Start 201,283,452 bp[1] End 201,332,993 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 E4 Start 135,799,133 bp[2] End 135,846,945 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of arm skin of abdomen skin of leg skin of thigh gums gingival epithelium vulva skin of hip human penis nipple Top expressed in skin of external ear hair follicle lip skin of back esophagus conjunctival fornix skin of abdomen molar corneal stroma condyle More reference expression data BioGPS n/a
Gene ontology Molecular function structural constituent of skin epidermis protein binding intermediate filament binding signal transducer activity lamin binding cadherin binding Cellular component intracellular membrane-bounded organelle cell junction intermediate filament nucleoplasm plasma membrane nucleus desmosome cornified envelope ficolin-1-rich granule membrane messenger ribonucleoprotein complex cytoplasm cell-cell junction Biological process multicellular organism development intermediate filament bundle assembly signal transduction cell adhesion keratinization neutrophil degranulation cornification positive regulation of gene expression negative regulation of mRNA catabolic process cell-cell adhesion cell-cell junction assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5317 18772 Ensembl ENSG00000081277 ENSMUSG00000026413 UniProt Q13835 P97350 RefSeq (mRNA) NM_001005337 NM_000299 NM_019645 NM_001313701 RefSeq (protein) NP_000290 NP_001005337 NP_001300630 NP_062619 Location (UCSC) Chr 1: 201.28 – 201.33 Mb Chr 1: 135.8 – 135.85 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[6]

Interactions

PKP1 has been shown to interact with Desmoplakin.^[7]

See also

• Skin fragility syndrome