IL18R1
Interleukin 18 Receptor 1
Gene Information Card
| Symbol | IL18R1 |
|---|---|
| Full Name | Interleukin 18 Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q12.1 |
| NCBI Gene ID | 8809 ncbi.nlm.nih.gov/gene/8809 |
| Ensembl ID | ENSG00000115604 |
| UniProt ID | Q13478 |
| OMIM ID | 604169 |
| HGNC ID | 5988 |
| Aliases | IL-18R-alpha, IL1RRP, CD218a, IL18RA |
Description
IL18R1 encodes the alpha subunit of the interleukin-18 receptor, which forms a heterodimeric complex with IL18RAP (beta subunit) to bind interleukin-18 (IL-18) and activate downstream signaling pathways, including NF-kappa-B and MAPK. This receptor is critical for Th1 and NK cell responses, and its dysregulation is implicated in inflammatory and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | IL18R1 variants alter IL-18 signaling, promoting synovial inflammation and joint destruction. | ClinVar, OMIM |
| Crohn's Disease | Polymorphisms in IL18R1 increase susceptibility by enhancing Th1-mediated intestinal inflammation. | ClinVar, NCBI |
| Asthma | IL18R1 expression in airway epithelium contributes to IL-18-driven eosinophilic inflammation. | OMIM, NCBI |
| Systemic Lupus Erythematosus | IL18R1 upregulation correlates with elevated IL-18 levels and disease activity. | ClinVar |
| Psoriasis | IL18R1 signaling amplifies keratinocyte proliferation and immune cell infiltration. | NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 5.2 | Medium |
| Spleen | 4.8 | Medium |
| Lymph Node | 4.5 | Medium |
| Bone Marrow | 3.9 | Low |
| Small Intestine | 3.1 | Low |
| Colon | 2.8 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 | 12.3 | High expression in natural killer cell line |
| THP-1 | 8.7 | Monocytic cell line, induced by LPS |
| Jurkat | 6.1 | T-cell line, moderate expression |
| A549 | 2.4 | Lung epithelial cell line, low baseline |
| HepG2 | 0.8 | Hepatocellular carcinoma, very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs917997 | SNP | 0.15 (global) | Intronic variant associated with Crohn's disease risk |
| rs2244468 | SNP | 0.22 (European) | Missense variant (p.Arg196Gln) in extracellular domain, may alter ligand binding |
| rs3771166 | SNP | 0.18 (global) | Intronic variant linked to asthma susceptibility |
| c.1A>G | Start loss | Rare | Loss of translation initiation, likely loss-of-function |
Mutation functional classification
Loss of Function (LOF)
c.1A>G (start loss) and truncating variants reduce or abolish IL-18 binding and signaling.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance receptor activity but require validation.
Dominant Negative (DN)
Not reported for IL18R1.
View complete mutation data：
Gene Ontology (GO)
| • interleukin-18 receptor activity (GO:0015008) | • interleukin-18 binding (GO:0019955) |
| • signal transduction (GO:0007165) | • immune response (GO:0006955) |
| • cell surface (GO:0009986) | • plasma membrane (GO:0005886) |
Pathways
• IL-18 signaling pathway (Reactome: R-HSA-446652)
• NF-kappa B signaling pathway (KEGG: hsa04064)
• MAPK signaling pathway (KEGG: hsa04010)
• Th1 and Th2 cell differentiation (KEGG: hsa04658)
Protein Summary
IL18R1 is a 541-amino acid transmembrane glycoprotein with three extracellular immunoglobulin-like domains and a cytoplasmic TIR domain. It forms a high-affinity receptor complex with IL18RAP to bind IL-18. Upon ligand binding, it recruits MyD88 and IRAK kinases, leading to NF-kappa-B and MAPK activation. The protein is expressed primarily on immune cells (NK, T cells, macrophages) and epithelial cells. Alternative splicing generates isoforms with altered signaling properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL18R1 Knockout HEK293 Cell Line | EDJ-KQ244 | Human | 8809 | Details Get a Quote |
| IL18R1 Knockout A-549 Cell Line | EDJ-KQ21064 | Human | 8809 | Details Get a Quote |
| IL18R1 Knockout HCT 116 Cell Line | EDJ-KQ21065 | Human | 8809 | Details Get a Quote |
| IL18R1 Knockout HeLa Cell Line | EDJ-KQ55010 | Human | 8809 | Details Get a Quote |
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