| 1307472 | Pkp1 | plakophilin 1 | ENCODES a protein that exhibits DNA binding (ortholog); lamin binding (ortholog); INVOLVED IN ameloblast differentiation (ortholog); desmosome assembly (ortholog); desmosome maintenance (ortholog); ASSOCIATED WITH ectodermal dysplasia (ortholog); Ectodermal Dysplasia-Skin Fragility Syndrome (ortholo g); genetic disease (ortholog); FOUND IN cornified envelope (ortholog); cytoplasm (ortholog); desmosome (ortholog); INTERACTS WITH 1-naphthyl isothiocyanate; 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil | 13 | 49861340 | 49909162 | Rat | 166 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1316687 | PKP1 | plakophilin 1 | 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] | 1 | 201283506 | 201332989 | Human | 209 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1316688 | Pkp1 | plakophilin 1 | Predicted to enable DNA binding activity; cadherin binding activity; and lamin binding activity. Involved in several processes, including ameloblast differentiation; desmosome organization; and positive regulation of keratinocyte differentiation. Located in several cellular components, including des mosome; nucleus; and plasma membrane. Is active in cornified envelope. Is expressed in several structures, including alimentary system; respiratory system; sensory organ; skin; and urinary system. Human ortholog(s) of this gene implicated in ectodermal dysplasia. Orthologous to human PKP1 (plakophilin 1). [provided by Alliance of Genome Resources, Jul 2025] | 1 | 135799132 | 135846945 | Mouse | 180 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 9018760 | Pkp1 | plakophilin 1 | ENCODES a protein that exhibits DNA binding (ortholog); lamin binding (ortholog); INVOLVED IN ameloblast differentiation (ortholog); desmosome assembly (ortholog); desmosome maintenance (ortholog); ASSOCIATED WITH ectodermal dysplasia (ortholog); Ectodermal Dysplasia-Skin Fragility Syndrome (ortholo g); genetic disease (ortholog); FOUND IN cornified envelope (ortholog); cytoplasm (ortholog); desmosome (ortholog) | NW_004955406 | 37420019 | 37465588 | Chinchilla | 48 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11817078 | PKP1 | plakophilin 1 | ENCODES a protein that exhibits DNA binding (inferred); lamin binding (inferred); RNA binding (inferred); INVOLVED IN ameloblast differentiation (inferred); cell adhesion (inferred); cell-cell adhesion (inferred); ASSOCIATED WITH ectodermal dysplasia (ortholog); Ectodermal Dysplasia-Skin Fragility S yndrome (ortholog); genetic disease (ortholog); FOUND IN adherens junction (inferred); cornified envelope (inferred); cytoplasm (inferred) | 1 | 176881154 | 176930814 | Bonobo | 61 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12406193 | PKP1 | plakophilin 1 | ENCODES a protein that exhibits DNA binding (inferred); lamin binding (inferred); RNA binding (inferred); INVOLVED IN ameloblast differentiation (inferred); cell adhesion (inferred); cell-cell adhesion (inferred); ASSOCIATED WITH Ectodermal Dysplasia-Skin Fragility Syndrome; ectodermal dysplasia (or tholog); genetic disease (ortholog); FOUND IN cornified envelope (inferred); cytoplasm (inferred); cytoplasmic stress granule (inferred) | 7 | 1921143 | 1966910 | Dog | 64 | symbol | gene, protein-coding, INFERRED [RefSeq] |
| 12518613 | Pkp1 | plakophilin 1 | ENCODES a protein that exhibits DNA binding (inferred); lamin binding (inferred); RNA binding (inferred); INVOLVED IN ameloblast differentiation (inferred); cell adhesion (inferred); cell-cell adhesion (inferred); ASSOCIATED WITH ectodermal dysplasia (ortholog); Ectodermal Dysplasia-Skin Fragility S yndrome (ortholog); genetic disease (ortholog); FOUND IN adherens junction (inferred); cornified envelope (inferred); cytoplasm (inferred) | NW_004936567 | 3089902 | 3138252 | Squirrel | 61 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18491525 | PKP1 | plakophilin 1 | ENCODES a protein that exhibits DNA binding (inferred); lamin binding (inferred); RNA binding (inferred); INVOLVED IN ameloblast differentiation (inferred); cell adhesion (inferred); cell-cell adhesion (inferred); ASSOCIATED WITH ectodermal dysplasia (ortholog); Ectodermal Dysplasia-Skin Fragility S yndrome (ortholog); genetic disease (ortholog); FOUND IN adherens junction (inferred); cornified envelope (inferred); cytoplasm (inferred) | | | | Green Monkey | 61 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155235895 | pkp1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 18903254 | Pkp1 | plakophilin 1 | ENCODES a protein that exhibits lamin binding (ortholog); INVOLVED IN ameloblast differentiation (ortholog); desmosome assembly (ortholog); desmosome maintenance (ortholog); ASSOCIATED WITH ectodermal dysplasia (ortholog); Ectodermal Dysplasia-Skin Fragility Syndrome (ortholog); genetic disease (ort holog); FOUND IN cornified envelope (ortholog); nuclear stress granule (ortholog) | | | | Naked Mole-Rat | 53 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14230298 | PKP1 | plakophilin 1 | ENCODES a protein that exhibits DNA binding (inferred); lamin binding (inferred); RNA binding (inferred); INVOLVED IN ameloblast differentiation (inferred); cell adhesion (inferred); cell-cell adhesion (inferred); ASSOCIATED WITH ectodermal dysplasia (ortholog); Ectodermal Dysplasia-Skin Fragility S yndrome (ortholog); genetic disease (ortholog); FOUND IN cornified envelope (inferred); cytoplasm (inferred); cytoplasmic stress granule (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 64 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14370130 | PKP1 | | | | | | Yeast | | symbol | gene, null |
| 155235896 | pkp1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155236578 | pkp1.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 1317269 | PKP4 | plakophilin 4 | Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015] | 2 | 158456952 | 158681429 | Human | 163 | description | gene, protein-coding, REVIEWED [RefSeq] |
