PKP1

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]

Description

Plakophilin 1

Tissue specificity

Group enriched (esophagus, skin , vagina)

Subcell location

Nucleoplasm, Plasma membrane

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (201283452 - 201332993)

Ensembl ID

ENSG00000081277  (ver. 103.38)

Orthologs

Mouse Pkp1: ENSMUSG00000026413

UniProt

Q13835

neXtProt

NX_Q13835

Human splice variants
Mouse splice variants

Protein structure