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Plakophilin 1 OKDB#: 399
 Symbols: Plakophilin 1 Species: human
 Synonyms: PKP1  Locus: 1q32 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment Desmosomes represent a special type of the plaque-bearing adhering junctions, characteristic of certain pathways of cell differentiation, which compositionally are not identical in the various kinds of desmosome-forming cells. While all desmosomes contain the cytoplasmic plaque proteins desmoplakin I and plakoglobin, they can vary in their specific complement of desmosomal cadherins and by the presence of additional plaque proteins. Heid, H. W. et al raised monoclonal antibodies recognizing one such 'accessory' plaque protein, the cytokeratin-binding, basic protein plakophilin 1, originally introduced as 'band 6 protein' or 'polypeptide D6', which is an abundant desmosomal component in certain epithelia. Using such antibodies, cDNA clones encoding the bovine and the human protein were cloned. Sequence analyses have revealed the presence of 9.2 repeated units of the arm-motif sequence, confirming that this protein is a member of a larger family of proteins including, inter alia, several membrane-associated plaque proteins such as vertebrate plakoglobin and beta-catenin as well as the product of the armadillo gene of Drosophila.

General function Cytoskeleton
Comment
Cellular localization Secreted
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Oocyte
Comment Brevini-Gandolfi TA et al reported that the length of the poly(A) tail of plakophilin, was determined at the germinal vesicle (GV) and metaphase II (MII) stage. The results indicated that the poly(A) tail of this gene is shorter after in vitro maturation.
Follicle stages Antral
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Jan. 24, 2000, midnight by: hsueh   email:
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last update: Jan. 24, 2000, midnight by: hsueh    email:



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