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Table 1 Tissue distribution of plakins in normal, genetically compromised and autoimmune diseases

From: The attributes of plakins in cancer and disease: perspectives on ovarian cancer progression, chemoresistance and recurrence

Name/Alias

Size

Tissue distribution

Normal function, localisation and binding partners

Disease

Plectin (PLEC)

> 500 kDa

Wide ranging, including skin, muscle, nervous system, GI tract

Hemidesmosomes, Outer nuclear/endoplasmic reticulum, (PLEC1) muscle Z disks (PLEC1d) mitochondria (PLEC1b) sarcolemmal dystrophin-glycoprotein complex (PLEC1f)

Intermediate filaments, microfilaments, microtubules-different isoforms have tissue specific functions

Genetic (abnormal protein)—epidermolysis bullosa simplex (EBS), pyloric atresia, myopathy (ophthalmoplegia, cerebral atrophy)

Autoimmune (auto–antibodies)—paraneoplastic pemphigus, bullous pemphigoid

Desmoplakin (DSP)

DSPI 322 kDa

DSPII 259 kDa

Heart, stratified epithelia, DSPII found in tissues other than heart and simple epithelia, otherwise widely expressed

Desmosomes (most abundant desmosomal protein)

Intermediate filaments, intercalated disks

Genetic (abnormal protein)—palmoplantar keratoderma, woolly hair, cardiomyopathy, lethal acantholytic epidermolysis bullosa

Autoimmune (auto–antibodies)—paraneoplastic pemphigus

Envoplakin (EVPL)

210 kDa

Skin and other stratified epithelia

Cornified envelope

Intermediate filaments

Genetic—not known

Autoimmune (auto–antibodies)—paraneoplastic pemphigus

Epiplakin (EPPK1)

450–700 kDa

Skin and other stratified epithelia

Cornified envelope

Intermediate filaments

Genetic—not known

Autoimmune (auto–antibodies)—blistering diseases

Periplakin (PPL)

195 kDa

Skin and other stratified epithelia

Cornified envelope

Intermediate filaments

Genetic—not known

Autoimmune (auto–antibodies)—paraneoplastic pemphigus

Microtubule-actin cross linking factor (MACF1),

~ 600 kDa

Wide ranging

Microtubules, microfilaments

unknown

Bullous pemphigus antigen1 (BPAG1)

1a ~ 625 kDa

1b ~ 834 kDa

1e 230 kDa

Wide ranging but 1a/1n nervous system

1b muscle

1e stratified epithelia

Microtubules, microfilaments

Hemidesmosomes, intermediate filaments

1a/1b—genetic (abnormal protein)—lethal form of dysautonomia psychomotor retardation, autoimmune—not known

1e—genetic (abnormal protein)—EBS, autoimmune (auto–antibodies)—bullous pemphigoid, paraneoplastic pemphigus