Plakophilin-1

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PKP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPKP1, B6P, plakophilin 1, EDSFS
External IDsOMIM: 601975 MGI: 1328359 HomoloGene: 253 GeneCards: PKP1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001005337
NM_000299

NM_019645
NM_001313701

RefSeq (protein)

NP_000290
NP_001005337

NP_001300630
NP_062619

Location (UCSC)Chr 1: 201.28 – 201.33 MbChr 1: 135.8 – 135.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Plakophilin-1 is a protein that in humans is encoded by the PKP1 gene.[5][6]

Function

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.[6]

Interactions

PKP1 has been shown to interact with Desmoplakin.[7]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000081277 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026413 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Cowley CM, Simrak D, Spurr NK, Arnemann J, Buxton RS (September 1997). "The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively". Hum Genet. 100 (3–4): 486–8. doi:10.1007/s004390050539. PMID 9272178. S2CID 12384017.
  6. ^ a b "Entrez Gene: PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)".
  7. ^ Hofmann I, Mertens C, Brettel M, Nimmrich V, Schnölzer M, Herrmann H (July 2000). "Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis". J. Cell Sci. 113. ( Pt 13) (13): 2471–83. doi:10.1242/jcs.113.13.2471. PMID 10852826.

Further reading