Entrez gene ID | | 5818 |
Official gene symbol | | PVRL1 |
Full name | | poliovirus receptor-related 1 (herpesvirus entry mediator C) |
Aliases | | ,CD111,CLPED1,ED4,HIgR,HVEC,MGC142031,MGC16207,OFC7,PRR,PRR1,PVRR,PVRR1,SK-12,nectin-1, |
Gene summary | | 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] |
Location | | Chromosome: 11 Locus: 11q23.3 |
Gene position | | 119599435 - 119508808 Map Viewer |
Gene orientation | | minus |
Gene size | | 90628 bp |
Gene sequence |
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OMIM ID | | 600644 |
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