NECTIN1
Nectin Cell Adhesion Molecule 1
Gene Information Card
| Symbol | NECTIN1 |
|---|---|
| Full Name | Nectin Cell Adhesion Molecule 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 5818 ncbi.nlm.nih.gov/gene/5818 |
| Ensembl ID | ENSG00000144895 |
| UniProt ID | Q15223 |
| OMIM ID | 600644 |
| HGNC ID | 9706 |
| Aliases | PVRL1, HveC, PRR1, CD111, CLPED1, ED4, HI7, nectin-1 |
Description
NECTIN1 encodes nectin-1, a transmembrane cell adhesion molecule belonging to the nectin family. It is a component of adherens junctions and plays a critical role in cell-cell adhesion, tissue morphogenesis, and immune synapse formation. NECTIN1 also serves as an entry receptor for alphaherpesviruses, including herpes simplex virus (HSV) and pseudorabies virus. Mutations in NECTIN1 cause cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) and are associated with non-syndromic cleft lip with or without cleft palate.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome (CLPED1) | Loss-of-function mutations in NECTIN1 disrupt cell adhesion during craniofacial and ectodermal development, leading to cleft lip/palate, ectodermal dysplasia, and syndactyly. | OMIM #225060; ClinVar |
| Non-Syndromic Cleft Lip with or without Cleft Palate | Rare missense and nonsense variants in NECTIN1 impair nectin-1 function, contributing to isolated orofacial clefts. | ClinVar; PMID: 10835630 |
| Herpes Simplex Virus Entry | NECTIN1 acts as a primary receptor for HSV-1 and HSV-2 entry into epithelial and neuronal cells via interaction with viral glycoprotein D. | UniProt; PMID: 9597136 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 20.1 | High |
| Esophagus | 18.5 | High |
| Oral mucosa | 16.3 | High |
| Lung | 8.7 | Medium |
| Kidney | 6.2 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 45.2 | High expression |
| A549 (lung carcinoma) | 22.8 | High expression |
| HEK293 (embryonic kidney) | 15.4 | Medium expression |
| SH-SY5Y (neuroblastoma) | 8.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function; associated with CLPED1 |
| c.553G>A (p.Gly185Arg) | Missense | Rare | Impaired cell adhesion; reported in non-syndromic cleft lip/palate |
| c.901C>T (p.Arg301Trp) | Missense | Rare | Reduced surface expression; linked to CLPED1 |
| c.1120delC (p.Leu374Serfs*12) | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that reduce or abolish nectin-1 expression or adhesive function, leading to CLPED1 and orofacial clefts.
Gain of Function (GOF)
Not reported for NECTIN1.
Dominant Negative (DN)
Not established; CLPED1 inheritance is autosomal recessive, but rare dominant-negative effects cannot be excluded.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • homophilic cell adhesion via plasma membrane adhesion molecules |
| • virus receptor activity | • protein binding |
| • plasma membrane | • adherens junction |
| • cell-cell junction |
Pathways
• Adherens junction (KEGG: hsa04520)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
• Herpes simplex infection (KEGG: hsa05168)
Protein Summary
Nectin-1 is a 517-amino acid type I transmembrane glycoprotein with three extracellular immunoglobulin-like domains (V, C2, C2), a transmembrane region, and a cytoplasmic tail containing an afadin-binding motif. It mediates Ca2+-independent homophilic and heterophilic (with nectin-3) cell adhesion. The cytoplasmic domain binds afadin, linking nectin-1 to the actin cytoskeleton. Nectin-1 is essential for the formation of adherens junctions in epithelial and neuronal tissues. As a herpesvirus entry mediator, it binds viral glycoprotein D, facilitating membrane fusion and viral entry.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NECTIN1 Knockout HEK293 Cell Line | EDJ-KQ17885 | Human | 5818 | Details Get a Quote |
| NECTIN1 Knockout A-549 Cell Line | EDJ-KQ23337 | Human | 5818 | Details Get a Quote |
| NECTIN1 Knockout HCT 116 Cell Line | EDJ-KQ23338 | Human | 5818 | Details Get a Quote |
| NECTIN1 Knockout HeLa Cell Line | EDJ-KQ23339 | Human | 5818 | Details Get a Quote |
| NECTIN1 Knockout Vero Cell Line | EDJ-KZ360 | Monkey | 103248639 | Details Get a Quote |
