Description
Poliovirus receptor-related protein 1, also known as Herpes virus entry mediator C, Nectin-1, Herpesvirus Ig-like receptor, CD111, PVRL1 and HVEC, is a single-pass type I membrane protein which belongs to the nectin family. PVRL1 acts in the initiation and maintenance of epithelial adherens junctions. Both rare and common mutations within PVRL1 make a minor contribution to disrupting the initiation and regulation of cell-to-cell adhesion and downstream morphogenesis of the embryonic face. PVRL1 can form trans-heterodimers with PVRL3 / nectin-3 and with PVRL4 / nectin-4. PVRL1 interacts (via C-terminus) with afadin (via PDZ domain). This interaction recruits PVRL1 to cadherin-based adherens junctions. PVRL1 interacts with integrin alphaV / beta3. It also interacts with herpes simplex virus 1 (HHV-1), herpes simplex virus 2 (HHV-2), and pseudorabies virus (PRV) envelope glycoprotein D. PVRL1 functions as an entry receptor for these viruses. Defects in PVRL1 are the cause of ectodermal dysplasia Margarita Island type (EDMI), also known as Zlotogora-Ogur syndrome, cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) or ectodermal dysplasia 4. Defects in PVRL1 are also the cause of non-syndromic orofacial cleft type 7 (OFC7). Non-syndromic orofacial cleft is a common birth defect consisting of cleft lips with or without cleft palate