InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PKP1

Summary

InnateDB Gene

IDBG-105724.6

Last Modified

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

Gene Symbol

PKP1

Gene Name

plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)

Synonyms

B6P

Species

Homo sapiens

Ensembl Gene

ENSG00000081277

Encoded Proteins

IDBP-105726

plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)

IDBP-105728

plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)

IDBP-105730

plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)

IDBP-806508

plakophilin 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 Information

Type

Protein coding

Genomic Location

Chromosome 1:201283452-201332993

Strand

Forward strand

Band

q32.1

Transcripts

ENST00000367324	ENSP00000356293
ENST00000263946	ENSP00000263946
ENST00000352845	ENSP00000295597
ENST00000475988
ENST00000477817
ENST00000622031	ENSP00000482213

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000026413

View Gene Order

ENSBTAG00000046350

Not yet available

Pathways

NETPATH

REACTOME

REACT_13579

Apoptotic cleavage of cell adhesion proteins pathway

REACT_107

Apoptotic cleavage of cellular proteins pathway

REACT_995

Apoptotic execution phase pathway

REACT_578

Apoptosis pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.497350

RefSeq

NM_000299 NM_001005337

HUGO

OMIM

CCDS

CCDS30966 CCDS30967

HPRD

03579

IMGT

EMBL

GenPept

RNA Seq Atlas