InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PKP1

Summary

InnateDB Protein

IDBP-105728.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PKP1

Protein Name

plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)

Synonyms

B6P;

Species

Homo sapiens

Ensembl Protein

ENSP00000263946

InnateDB Gene

IDBG-105724 (PKP1)

Protein Structure

UniProt Annotation

Function

Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis. {ECO:0000269PubMed:9326952}.

Subcellular Localization

Isoform 1: Nucleus. Cell junction, desmosome.Nucleus.

Disease Associations

Ectodermal dysplasia-skin fragility syndrome (EDSFS) [MIM:604536]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 2 is widely expressed. Isoform 1 is expressed in stratified squamous, complex, glandular duct and bladder epithelia.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	20 [view]
Protein-Protein	20 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004871	signal transducer activity
GO:0005488	binding
GO:0005515	protein binding
GO:0005521	lamin binding
GO:0019215	intermediate filament binding
GO:0030280	structural constituent of epidermis

Biological Process

GO:0006915	apoptotic process
GO:0006921	cellular component disassembly involved in execution phase of apoptosis
GO:0007155	cell adhesion
GO:0007165	signal transduction
GO:0007275	multicellular organismal development
GO:0016337	single organismal cell-cell adhesion
GO:0045110	intermediate filament bundle assembly

Cellular Component

GO:0005634	nucleus
GO:0005882	intermediate filament
GO:0005886	plasma membrane
GO:0030057	desmosome
GO:0043231	intracellular membrane-bounded organelle
GO:0070062	extracellular vesicular exosome