NCR1: Natural Cytotoxicity Triggering Receptor 1
Key activating receptor on natural killer cells involved in immune surveillance and tumor immunity.
Gene Information Card
| Symbol | NCR1 |
|---|---|
| Full Name | Natural cytotoxicity triggering receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 9437 ncbi.nlm.nih.gov/gene/9437 |
| Ensembl ID | ENSG00000189430 |
| UniProt ID | O76036 |
| OMIM ID | 604530 |
| HGNC ID | 7736 |
| Aliases | NKp46, CD335, LY94 |
Description
NCR1 encodes natural cytotoxicity triggering receptor 1 (NKp46), a transmembrane glycoprotein belonging to the natural cytotoxicity receptor (NCR) family. It is expressed primarily on natural killer (NK) cells and a subset of innate lymphoid cells. NKp46 activates NK cell cytotoxicity and cytokine secretion upon ligand binding, playing a critical role in immune surveillance against tumors and virus-infected cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary hemophagocytic lymphohistiocytosis (HLH) | Defective NK cell cytotoxicity due to NCR1 deficiency impairs immune control of infected cells. | ClinVar, OMIM |
| Influenza A infection | NKp46 recognizes hemagglutinin of influenza virus, triggering NK cell degranulation. | NCBI, UniProt |
| Colorectal cancer | Reduced NCR1 expression correlates with impaired NK cell infiltration and poor prognosis. | COSMIC, literature |
| Chronic myeloid leukemia (CML) | Low NKp46 expression on NK cells associated with disease progression. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lung | 8.3 | Low |
| Peripheral blood | 15.2 | Medium |
| Bone marrow | 6.1 | Low |
| Small intestine | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 | 45.2 | High expression; NK cell line |
| YTS | 38.9 | High expression; NK cell line |
| KHYG-1 | 52.1 | Very high expression; NK cell line |
| Jurkat | 0.3 | No expression; T cell line |
| HeLa | 0.1 | No expression; epithelial cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.304C>T (p.Arg102Trp) | Missense | <0.01% | Reduced ligand binding and NK cell activation |
| c.682G>A (p.Gly228Arg) | Missense | <0.01% | Impaired surface expression |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg102Trp) reduce ligand binding and NK cell activation, leading to impaired cytotoxicity.
Gain of Function (GOF)
No gain-of-function mutations reported in NCR1.
Dominant Negative (DN)
No dominant-negative mutations reported in NCR1.
View complete mutation data：
Gene Ontology (GO)
| • receptor activity | • cell surface receptor signaling pathway |
| • natural killer cell activation | • immune response |
| • cytolysis | • cell adhesion |
Pathways
• Natural killer cell mediated cytotoxicity (KEGG hsa04650)
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome R-HSA-198933)
Protein Summary
NKp46 is a 304-amino acid type I transmembrane protein with two extracellular immunoglobulin-like domains and a short cytoplasmic tail containing an immunoreceptor tyrosine-based activation motif (ITAM)-like sequence. It associates with ITAM-bearing adaptors (FcεRIγ or CD3ζ) to transduce activating signals. NKp46 recognizes viral hemagglutinins, heparan sulfate proteoglycans, and tumor-associated ligands, triggering NK cell degranulation and cytokine production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NCR1 Knockout HEK293 Cell Line | EDJ-KQ3178 | Human | 9437 | Details Get a Quote |
| NCR1 Knockout HeLa Cell Line | EDJ-KQ55166 | Human | 9437 | Details Get a Quote |
| NCR1 Knockout A-549 Cell Line | EDJ-KQ63646 | Human | 9437 | Details Get a Quote |
| NCR1 Knockout HCT 116 Cell Line | EDJ-KQ72106 | Human | 9437 | Details Get a Quote |
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