NP_000290.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
82,861 Da
NCBI Official Full Name
plakophilin-1 isoform 1b
NCBI Official Synonym Full Names
plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
NCBI Official Synonym Symbols
NCBI Protein Information
plakophilin-1; band 6 protein
UniProt Protein Name
Plakophilin-1
UniProt Synonym Protein Names
Band 6 protein
UniProt Synonym Gene Names
UniProt Entry Name
PKP1_HUMAN
NCBI Summary for 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]
UniProt Comments for PKP1
plakophilin 1: Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis. Defects in PKP1 are the cause of ectodermal dysplasia- skin fragility syndrome (EDSFS); 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. Belongs to the beta-catenin family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis; Cell adhesion
Chromosomal Location of Human Ortholog: 1q32
Cellular Component: nucleoplasm; desmosome; intracellular membrane-bound organelle; plasma membrane; intermediate filament; nucleus
Molecular Function: signal transducer activity; protein binding; intermediate filament binding; structural constituent of epidermis; lamin binding
Biological Process: cell-cell adhesion; apoptosis; multicellular organismal development; intermediate filament bundle assembly; cell adhesion; signal transduction; cell structure disassembly during apoptosis
Disease: Ectodermal Dysplasia/skin Fragility Syndrome
Research Articles on PKP1
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Products associated with PKP1 elisa kit
Pathways associated with PKP1 elisa kit
Diseases associated with PKP1 elisa kit
Organs/Tissues associated with PKP1 elisa kit
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