PLEC

PLEC (Plectin) is a protein coding gene. Diseases associated with PLEC include Epidermolysis Bullosa Simplex, Ogna Type and Muscular Dystrophy, Limb-Girdle, Type 2Q. Among its related pathways are Collagen chain trimerization and Cytoskeletal Signaling. Gene Ontology annotations related to this gene include structural constituent of muscle. An important paralog of the gene is MACF1.

Plectin

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.

Actin cytoskeleton reorganizationIEA:Ensembl
Actomyosin contractile ring assembly actin filament organizationIEA:Ensembl
Adherens junction organizationIEA:Ensembl
Cardiac muscle cell developmentIEA:Ensembl
Cell morphogenesisIEA:Ensembl
Cellular response to extracellular stimulusIEA:Ensembl
Cellular response to fluid shear stressIEA:Ensembl
Cellular response to hydrostatic pressureIEA:Ensembl
Cellular response to mechanical stimulusIEA:Ensembl
Establishment of skin barrierIEA:Ensembl
Fibroblast migrationIEA:Ensembl
Gene expressionIEA:Ensembl
Hemidesmosome assemblyManual Assertion Based On ExperimentIDA:UniProtKB
Intermediate filament cytoskeleton organizationManual Assertion Based On ExperimentIBA:GO_Central
Intermediate filament organizationIEA:Ensembl
Keratinocyte developmentIEA:Ensembl
Leukocyte migration involved in immune responseIEA:Ensembl
Mitochondrion morphogenesisIEA:Ensembl
Multicellular organism growthIEA:Ensembl
Myoblast differentiationIEA:Ensembl
Negative regulation of protein kinase activityIEA:Ensembl
Nucleus organizationIEA:Ensembl
Peripheral nervous system myelin maintenanceIEA:Ensembl
Protein localizationIEA:Ensembl
Protein-containing complex organizationIEA:Ensembl
Regulation of ATP citrate synthase activityIEA:Ensembl
Regulation of vascular permeabilityIEA:Ensembl
Respiratory electron transport chainIEA:Ensembl
Response to foodIEA:Ensembl
Sarcomere organizationIEA:Ensembl
Skeletal muscle fiber developmentIEA:Ensembl
Skeletal myofibril assemblyIEA:Ensembl
T cell chemotaxisIEA:Ensembl
Tight junction organizationIEA:Ensembl
Transmission of nerve impulseIEA:Ensembl
Wound healingManual Assertion Based On ExperimentIBA:GO_Central

Cytoplasm, cytoskeleton
Cell junction, hemidesmosome

Epidermolysis bullosa simplex with pyloric atresia (EBS-PA):
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.
Epidermolysis bullosa simplex, with muscular dystrophy (MD-EBS):
A form of epidermolysis bullosa characterized by the association of blister formation at the level of the hemidesmosome with late-onset muscular dystrophy.
Epidermolysis bullosa simplex, Ogna type (O-EBS):
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.
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.
Epidermolysis bullosa simplex with nail dystrophy (EBSND):
A form of epidermolysis bullosa, a dermatologic disorder characterized by skin blistering. EBSND patients also manifest nail dystrophy.

Phosphorylated by CDK1; regulates dissociation from intermediate filaments during mitosis.