功能： disease:Defects in PLEC1 are the cause of epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:131950]; also called epidermolysis bullosa simplex 1. O-EBS is a form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates.,disease:Defects in PLEC1 are the cause of epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) [MIM:226670]. MD-EBS is an autosomal recessive disorder characterized by epidermal blister formation at the level of the hemidesmosome and associated with late-onset muscular dystrophy.,disease:Defects in PLEC1 are the cause of epidermolysis bullosa simplex with pyloric atresia (EBS-PA) [MIM:612138]. EBS-PA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD-EBS.,domain:The N-terminus interacts with actin, the C-terminus with vimentin, desmin, GFAP, cytokeratins, lamin B; whereas both the N-and the C-terminus can bind integrin beta-4.,function:Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the cross-linking and stabilization of cytoskeletal intermediate filaments network, but also in the regulation of their dynamics.,online information:Plectin entry,PTM:Phosphorylated by CDC2; regulates dissociation from intermediate filaments during mitosis (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. Isoform 4 is phosphorylated on 'Tyr-26' (By similarity). Isoform 4 is phosphorylated on 'Ser-21'.,similarity:Belongs to the plakin or cytolinker family.,similarity:Contains 1 actin-binding domain.,similarity:Contains 2 CH (calponin-homology) domains.,similarity:Contains 33 plectin repeats.,similarity:Contains 4 spectrin repeats.,subunit:Homodimer or homotetramer. Interacts with Nesprin-3.,tissue specificity:Widely expressed with highest levels in muscle, heart, placenta and spinal cord.,
功能： disease:Defects in PLEC1 are the cause of epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:131950]; also called epidermolysis bullosa simplex 1. O-EBS is a form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates.,disease:Defects in PLEC1 are the cause of epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) [MIM:226670]. MD-EBS is an autosomal recessive disorder characterized by epidermal blister formation at the level of the hemidesmosome and associated with late-onset muscular dystrophy.,disease:Defects in PLEC1 are the cause of epidermolysis bullosa simplex with pyloric atresia (EBS-PA) [MIM:612138]. EBS-PA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD-EBS.,domain:The N-terminus interacts with actin, the C-terminus with vimentin, desmin, GFAP, cytokeratins, lamin B; whereas both the N-and the C-terminus can bind integrin beta-4.,function:Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the cross-linking and stabilization of cytoskeletal intermediate filaments network, but also in the regulation of their dynamics.,online information:Plectin entry,PTM:Phosphorylated by CDC2; regulates dissociation from intermediate filaments during mitosis (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. Isoform 4 is phosphorylated on 'Tyr-26' (By similarity). Isoform 4 is phosphorylated on 'Ser-21'.,similarity:Belongs to the plakin or cytolinker family.,similarity:Contains 1 actin-binding domain.,similarity:Contains 2 CH (calponin-homology) domains.,similarity:Contains 33 plectin repeats.,similarity:Contains 4 spectrin repeats.,subunit:Homodimer or homotetramer. Interacts with Nesprin-3.,tissue specificity:Widely expressed with highest levels in muscle, heart, placenta and spinal cord.,
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