PKP1
Sign in to saveAlso known as B6P, plakophilin 1, EDSFS
Plakophilin-1 is a protein that in humans is encoded by the PKP1 gene.
Gene data
PKP1- Name
- plakophilin 1
- Type
- protein-coding
- Position
- 201,283,452–201,332,993 (+)
- Aliases
- B6P, EDSFS
- Ensembl
- ENSG00000081277
- RefSeq RNA
- NM_000299.4, NM_001005337.3
- RefSeq protein
- NP_000290.2, NP_001005337.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
plakophilin 1
- Symbol
- PKP1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:201,283,452-201,332,993
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein PKP1 PDB 1xm9.png
Show 5 more facts
- HomoloGene ID
- 253
- genomic start
- 201252580
- exact match
- identifiers.org/ncbigene/5317
- genomic end
- 201302121
- cytogenetic location
- 1q32.1
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Function
- Interactions
- See also
- References
- Further reading
Plakophilin-1 is a protein that in humans is encoded by the PKP1 gene.
== Function ==