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FLASH GENE

Symbol

PKP1

contributors: mct - updated : 23-06-2015

HGNC name	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
HGNC id	9023

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001005337 14 splicing 5364 NP_001005337 - 726 in nuclei and desmosomal plaques 1998 9721216 NM_000299 15 splicing 5447 NP_000290 82.9 747 only in nuclei 1998 9721216 PKP1B using exon 7

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tongue     predominantly Lymphoid/Immune thymus       highly Reproductive male system prostate     moderately Respiratory lung       moderately   respiratory tract larynx     highly Urinary bladder       moderately Visual eye       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal head domain including a potential coiled-coil forming alpha-helix segment, and head domains of PKP1 and PKP2 were sufficient to bind single-stranded DNA
	a central domain with ten repeats of the Armadillo motif
	a C terminal tail domain, with AAs 686-726 required for its localization to the plasma membrane

HOMOLOGY

interspecies	homolog to Drosophila Armadillo segment polarity gene
	ortholog to murine Pkp1

Homologene

FAMILY	beta-catenin family
	arm-repeat (armadillo) family
	plakophilin gene family

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION	plasma membrane,junction,desmosome
	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament
	intracellular,nucleus,nucleoplasm
text	of the three Pkps, PKP1 is most readily detected in the nucleus, where it is localized to the nucleoplasm

basic FUNCTION	enhancing lateral interaction between desmoplakines molecules
	involved in cutaneous cell-cell interaction and epidermal morphogenesis
	playing a role in junctional plaques
	plays an important role in desmosome stability and/or assembly
	significant role of PKP1 in stabilization of desmosome structure and function, predominantly in the spinous layers of the epidermis (pMID: 19945625)
	is a regulator of translation and proliferation via modulation of EIF4A1 activity and suggest that PKP1 controls cell growth in physiological and pathological conditions
	in addition to mediating desmosome assembly, the nuclear pool of PKP1, PKP2 can influence cell survival by interactions with DNA
	armadillo family protein critical for desmosomal adhesion and epidermal integrity
	PKP1 expression transforms desmosome adhesion from a calcium-dependent to a calcium-independent and hyperadhesive state

CELLULAR PROCESS	cell communication
	cell migration & motility

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

essential plaque protein of desmosomes in stratified epithelia with desmosomal location

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein	desmogleins
	desmocollins
	direct association of PKP1 with the eukaryotic translation initiation factor 4A1 (EIF4A1), and PKP1 directly promoted EIF4A1 adenosine triphosphatase activity
	PKP1 associates specifically with nuclear components
	binding of PKP1/3 to FXR1 was RNA independent, and both PKP3 and FXR1 stabilized PKP2 mRNA

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EBSPD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   PKP1 loss secondary to promoter methylation, as well as other mechanisms, may promote the progression of Barrett esophagus (BE) to esophageal adenocarcinoma (EAC) in a subset of patients via decreased desmosome assembly and increased cell motility constitutional     --low   results in an integral weakness within the desmosomal plaque, leading to desmosomal detachment and cell-cell separation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS