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 |