Entrez Summary: This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016].
UniProt Summary: Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments.
Pfam DomainsGO Terms
Pfam Domains
Plectin
GO Terms
intermediate filament binding
desmosome
intermediate filament cytoskeleton
intermediate filament cytoskeleton organization
intermediate filament-based process
peptide cross-linking
cornified envelope
protein binding, bridging
cornification
intermediate filament
structural molecule activity
keratinization
keratinocyte differentiation
cadherin binding
epidermal cell differentiation
skin development
epidermis development
wound healing
response to wounding
epithelial cell differentiation
programmed cell death
cell death
cytoskeleton organization
epithelium development
tissue development
membrane
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)