QuickView for plakophilin 1 (gene)

Gene Symbol:

PKP1 Homo sapiens

Full name:

plakophilin 1

Synonyms:

B6P, plakophilin-1, band 6 protein

Genomic Location:

Chr 1: 199519203-199568740

Description:

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 de...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TATAAA_TATA_01 ,  GGGCGGR_SP1_Q6 ,  GTGGGTGK_UNKNOWN ,  GTTAAAG_MIR302B

Cytogenetic Map:

1q32.1

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