Nectin 1 Rabbit Polyclonal Antibody

This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium (2+) -independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P) . Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009], disease:Defects in PVRL1 are the cause of ectodermal dysplasia Margarita Island type (EDMI) [MIM:225060]; also known as Zlotogora-Ogur syndrome, cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) or ectodermal dysplasia 4. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDMI is an autosomal recessive syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails., disease:Defects in PVRL1 are the cause of non-syndromic orofacial cleft type 7 (OFC7) [MIM:225060]. Non-syndromic orofacial cleft is a common birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum., function:Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between PVRL1/nectin-1 and PVRL3/nectin-3 and between PVRL1/nectin-1 and PVRL4/nectin-4., similarity:Belongs to the nectin family., similarity:Contains 1 Ig-like V-type (immunoglobulin-like) domain., similarity:Contains 2 Ig-like C2-type (immunoglobulin-like) domains., subunit:Can form trans-heterodimers with PVRL3/nectin-3 and with PVRL4/nectin-4. Interacts (via C-terminus) with afadin (via PDZ domain) ; this interaction recruits PVRL1 to cadherin-based adherens junctions. Interacts with integrin alphaV/beta3. Interacts with herpes simplex virus 1 and 2, and pseudorabies virus glycoprotein gD and act as a receptor for these viruses.

PVRL1; HVEC; PRR1; Poliovirus receptor-related protein 1; Herpes virus entry mediator C; Herpesvirus entry mediator C; HveC; Herpesvirus Ig-like receptor; HIgR; Nectin-1; CD111