NECTIN1

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]

Full Name

Nectin Cell Adhesion Molecule 1

Function

Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between NECTIN1 and NECTIN3 and between NECTIN1 and NECTIN4. Has some neurite outgrowth-promoting activity.

(Microbial infection) Acts as a receptor for herpes simplex virus 1/HHV-1, herpes simplex virus 2/HHV-2, and pseudorabies virus/PRV.

Biological Process

Axon guidance Source: Ensembl
Cell adhesion Source: UniProtKB
Cell-cell adhesion Source: UniProtKB
Desmosome organization Source: Ensembl
Enamel mineralization Source: Ensembl
Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules Source: HGNC-UCL
Homophilic cell adhesion via plasma membrane adhesion molecules Source: HGNC-UCL
Immune response Source: UniProtKB
Iron ion transport Source: Ensembl
Lens morphogenesis in camera-type eye Source: Ensembl
Protein localization to cell junction Source: GO_Central
Regulation of synapse assembly Source: Ensembl
Retina development in camera-type eye Source: Ensembl
Viral entry into host cell Source: UniProtKB
Virion attachment to host cell Source: InterPro

Cellular Location

Isoform Alpha:
Plasma membrane
Cell membrane
presynaptic cell membrane
Isoform Delta:
Plasma membrane
Cell membrane
Isoform Gamma:
Secreted

Involvement in disease

Ectodermal dysplasia, Margarita Island type (EDMI):
An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a 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.
Non-syndromic orofacial cleft 7 (OFC7):
A 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.

Topology

Extracellular: 31-355
Helical: 356-376
Cytoplasmic: 377-517