Human Gene PKP1 (ENST00000367324.8) from GENCODE V44
Description: Homo sapiens plakophilin 1 (PKP1), transcript variant 1a, mRNA. (from RefSeq NM_001005337) RefSeq Summary (NM_001005337): 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]. Gencode Transcript: ENST00000367324.8 Gencode Gene: ENSG00000081277.13 Transcript (Including UTRs) Position: hg38 chr1:201,283,506-201,332,989 Size: 49,484 Total Exon Count: 14 Strand: + Coding Region Position: hg38 chr1:201,283,703-201,328,836 Size: 45,134 Coding Exon Count: 13
ID:PKP1_HUMAN DESCRIPTION: RecName: Full=Plakophilin-1; AltName: Full=Band 6 protein; Short=B6P; FUNCTION: Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis. SUBCELLULAR LOCATION: Isoform 1: Nucleus. Cell junction, desmosome. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Isoform 2 is widely expressed. Isoform 1 is expressed in stratified squamous, complex, glandular duct and bladder epithelia. DISEASE: Defects in PKP1 are the cause of ectodermal dysplasia- skin fragility syndrome (EDSFS) [MIM:604536]; also known as McGrath syndrome. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSFS is characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting 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. SIMILARITY: Belongs to the beta-catenin family. SIMILARITY: Contains 9 ARM repeats.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13835
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.