The reference OMIM entry for this protein is 601590

Envoplakin; evpl

CLONING

Ruhrberg et al. (1996) described the cDNA sequence of envoplakin, a membrane-associated protein expressed in human stratified squamous epithelia in skin, oral mucosa, esophageal mucosa, and cervical mucosa. They demonstrated that envoplakin is upregulated in the differentiated layers of the epidermis. Envoplakin is homologous to the keratin-binding proteins desmoplakin I and II (125647), bullous pemphigoid antigen-1 (BPAG1; 113810), and plectin (601282). Ruhrberg et al. (1996) suggested that EVPL may be a novel desmosome component involved in anchoring keratin filaments to desmosomes in stratified epithelia. They suggested that in human epidermis envoplakin may link desmosomes and keratin filaments to the cornified envelope. Maatta et al. (2000) cloned the mouse Evpl gene. They established that the amino acid sequence of the N-terminal, rod, linker, and C-terminal domains of mouse Evpl are 80 to 91% similar to the corresponding domains in human EVPL. Mouse Evpl is 1 residue longer than the 2,034-amino acid human sequence. By RT-PCR, Kazerounian et al. (2002) surveyed the tissue distribution of several plakin family members, including periplakin (602871), plectin, desmoplakin, BPAG1, and envoplakin. Envoplakin showed a relatively restricted distribution, with expression detected in prostate and in adult and fetal lung and kidney.

GENE STRUCTURE

Genomic sequence analysis by Maatta et al. (2000) determined that the mouse gene, like the human gene reported by Risk et al. (1999), contains 22 exons, the first 21 of which are small and encode the large N-terminal region. Promoter analysis identified no TATA box and showed that a highly conserved region between nucleotides -101 and -288 was necessary for activity in transfected primary keratinocytes. Mutation analysis revealed that promoter activity depends on the presence of a GC box that binds transcription factors Sp1 (189906) and Sp3 (601804).

MAPPING

Ruhrberg et al. (1996) mapped the human envoplakin gene (EVPL) to human chromosome 17 on the basis of somatic cell hybrid screening. EVPL was assigned to 17q25 by screening of hybrids which contained fragments of chromosome 17 and fluorescent in situ hybridization analysis with EVPL cosmids. They demonstrated that EVPL and D17S1603 mapped to a 500-kb YAC. They noted that this places EVPL in a region containing the gene for tylosis and esophageal cancer (TOC; 148500). Tylosis, or focal nonepidermolytic palmoplantar keratosis (NEPKK), is an autosomal dominant skin disease characterized by thickening of the epidermis and palms with an increased risk for the development of esophageal cancer. They also noted that other forms of palmoplantar keratosis are associated with mutations in the epidermal keratin genes and that the type I keratin genes are clustered on 17q12-q21. However, haplotype analysis by Risk et al. (1999) ruled out an association between the EVPL gene and TOC. Maatta et al. (2000) mapped the mouse Evpl gene to chromosome 11E1 by FISH. ... More on the omim web site

Subscribe to this protein entry history

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).

Oct. 19, 2018: Protein entry updated
Automatic update: OMIM entry 601590 was added.