Entrez Summary: This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
SAM 1
SAM 2
GO Terms
desmosome
cornified envelope
cornification
keratinization
keratinocyte differentiation
epidermal cell differentiation
cytoskeleton
skin development
nuclear speck
epidermis development
epithelial cell differentiation
programmed cell death
cell death
epithelium development
tissue development
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)