KLRC1: Killer Cell Lectin Like Receptor C1
NKG2-A/NKG2-B type II integral membrane protein
Gene Information Card
| Symbol | KLRC1 |
|---|---|
| Full Name | killer cell lectin like receptor C1 |
| Gene Type | protein coding |
| Chromosomal Location | 12p13.2 |
| NCBI Gene ID | 3821 ncbi.nlm.nih.gov/gene/3821 |
| Ensembl ID | ENSG00000134545 |
| UniProt ID | P26715 |
| OMIM ID | 161555 |
| HGNC ID | 6374 |
| Aliases | NKG2A, NKG2-B, CD159a, KLRC1 |
Description
KLRC1 encodes NKG2A, a transmembrane protein belonging to the killer cell lectin-like receptor family. NKG2A forms a heterodimer with CD94 and functions as an inhibitory receptor on natural killer (NK) cells and a subset of T cells. Upon binding its ligand HLA-E, the receptor recruits SHP-1/2 phosphatases via its ITIM motifs to suppress cytotoxicity and cytokine release. KLRC1 is a critical immune checkpoint regulator in innate and adaptive immunity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | NKG2A/HLA-E interaction inhibits antitumor immune responses, promoting immune evasion. | ClinVar, COSMIC |
| HIV infection | Upregulation of HLA-E and NKG2A contributes to impaired NK cell function. | NCBI Gene, PubMed |
| Preeclampsia | Altered NKG2A expression on uterine NK cells linked to defective trophoblast invasion. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lung | 8.3 | Low |
| Bone Marrow | 6.7 | Low |
| Small Intestine | 5.1 | Low |
| Whole Blood | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 | 45.2 | High expression; NK cell line |
| YTS | 38.7 | High expression; NK cell line |
| Jurkat | 2.1 | Low expression; T cell line |
| K562 | 0.8 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.503G>A (p.Arg168His) | Missense | <0.01% | Unknown functional effect |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
| c.832C>T (p.Arg278*) | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss variants (e.g., p.Arg278*, p.Met1Val) predicted to abolish NKG2A expression or function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in KLRC1.
Dominant Negative (DN)
No dominant-negative mutations described for KLRC1.
View complete mutation data：
Gene Ontology (GO)
| • protein homodimerization activity | • MHC class I protein complex binding |
| • natural killer cell lectin-like receptor binding | • signaling receptor activity |
| • negative regulation of natural killer cell mediated cytotoxicity | • innate immune response |
Pathways
• Natural killer cell mediated cytotoxicity (KEGG hsa04650)
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome R-HSA-198933)
Protein Summary
NKG2A (CD159a) is a 233-amino-acid type II transmembrane glycoprotein with an extracellular C-type lectin domain and two cytoplasmic ITIM motifs. It forms a disulfide-linked heterodimer with CD94 to create a functional receptor that recognizes the non-classical MHC class I molecule HLA-E. NKG2A expression is predominantly on NK cells, CD8+ T cells, and some γδ T cells. The receptor acts as an immune checkpoint, and its blockade is being explored in cancer immunotherapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLRC1 Knockout HEK293 Cell Line | EDJ-KQ2116 | Human | 3821 | Details Get a Quote |
| KLRC1 Knockout HeLa Cell Line | EDJ-KQ53745 | Human | 3821 | Details Get a Quote |
| KLRC1 Knockout A-549 Cell Line | EDJ-KQ62221 | Human | 3821 | Details Get a Quote |
| KLRC1 Knockout HCT 116 Cell Line | EDJ-KQ70706 | Human | 3821 | Details Get a Quote |
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