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