PLEC
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 filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofiber integrity.
Involvement in disease
Epidermolysis bullosa simplex 5C, with pyloric atresia
EBS5C
A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5C is an autosomal recessive disorder characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Epidermolysis bullosa simplex 5B, with muscular dystrophy
EBS5B
A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5B is an autosomal recessive disorder characterized by progressive muscular dystrophy associated with generalized skin blistering.
None
The disease is caused by variants affecting the gene represented in this entry.
Epidermolysis bullosa simplex 5A, Ogna type
EBS5A
An autosomal dominant form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5A patients manifest generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, EBS5A is differentiated from classical epidermolysis bullosa simplex, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates.
None
The disease is caused by variants affecting the gene represented in this entry.
Muscular dystrophy, limb-girdle, autosomal recessive 17
LGMDR17
A form of limb-girdle muscular dystrophy characterized by early childhood onset of proximal muscle weakness. Limb-girdle muscular dystrophies are characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.
None
The disease is caused by variants affecting the gene represented in this entry. A 9 bp deletion containing the initiation codon in exon 1f of PLEC have been found in limb-girdle muscular dystrophy patients. The mutation results in deficient expression of isoform 9 and disorganization of the myofibers, without any effect on the skin.
Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive
EBS5D
A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5D patients have generalized skin blistering that heals with scarring and hyperpigmentation, and severe nail dystrophy. Mucous membranes, heart, and muscle are spared.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by CDK1; regulates dissociation from intermediate filaments during mitosis.
Sequence Similarities
Belongs to the plakin or cytolinker family.
Tissue Specificity
Widely expressed with highest levels in muscle, heart, placenta and spinal cord.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cell junction
- Hemidesmosome
- Cell projection
- Podosome
- Localized to the cortex of myotube podosomes.
Alternative names
PLEC1, PLEC, Plectin, PCN, PLTN, Hemidesmosomal protein 1, Plectin-1, HD1