PLEC1 Products

Description

The PLEC1 gene (also known as the PLEC gene) encodes a plectin protein that exists in nine isoforms: isoform 1 is 4,684 amino acids long at 531 kDA; isoform 2 is 4,574 amino acids long at 518 kDA; isoform 3 is 4,570 amino acids long at 518 kDA; isoform 4 is 4,547 amino acids long at 516 kDA; isoform 5 is 4,547 amino acids long at 516 kDA; isoform 6 is 4,551 amino acids long at 516 kDA; isoform 7 is 4,515 amino acids long at 512 kDA; isoform 8 is 4,525 amino acids long at 513 kDA; and isoform 9 is 4,533 amino acids long at 514 kDA. The PLEC1 gene functions as a structural component of muscle as links intermediate filaments with microtubules and microfilaments. It anchors the intermediate filaments to desmosomes or hemidesmosomes. Additionally, it is thought to have the ability to bind muscle proteins, like actin, to membrane complexes in the muscle. PLEC1 participates in cytoskeletal signaling, cytoskeleton remodeling of neurofilaments and keratin filaments, EGFR1 signaling pathways, apoptosis, collagen formation, and Alpha6-Beta4 integrin signaling pathways. It is known to interact with genes SRRM2, SQSTM1, GRB2, ITGB4, and RANBP2. Defects in this gene lead to epidermolysis bullosa simplex with pyloric atresia (EBS-PA), epidermolysis bullosa simplex with muscular dystrophy (MD-EBS), epidermolysis bullosa simplex Ogna type (O-EBS) and limb-girdle muscular dystrophy type 2Q (LGMD2Q). PLEC1 is also associated with myopathy, neuropathy, alexander disease, myasthenic syndrome, squamous cell carcinoma, epithelial ovarian cancer, and muscular dystrophy.

Bioinformatics

Entrez	51196 Human
Uniprot	Q9P212 Human
Product By Gene ID	51196
Alternate Names	phospholipase C, epsilon 1

Research Areas for PLEC1

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Lipid and Metabolism