IL1R1 Gene: Interleukin 1 Receptor Type 1
A key mediator of inflammation and innate immunity, implicated in autoimmune, inflammatory, and malignant diseases.
Gene Information Card
| Symbol | IL1R1 |
|---|---|
| Full Name | Interleukin 1 receptor type 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q12.1 |
| NCBI Gene ID | 3554 ncbi.nlm.nih.gov/gene/3554 |
| Ensembl ID | ENSG00000115594 |
| UniProt ID | P14778 |
| OMIM ID | 147810 |
| HGNC ID | 5993 |
| Aliases | IL1R, IL1RA, IL1RT1, CD121a, D2S1473 |
Description
The IL1R1 gene encodes the interleukin-1 receptor type 1, a transmembrane protein that binds interleukin-1 alpha (IL-1α) and beta (IL-1β) with high affinity. Upon ligand binding, IL1R1 recruits the accessory protein IL1RAP to form a signaling complex that activates NF-κB and other inflammatory pathways. This receptor is a critical mediator of the inflammatory response, playing roles in fever, immune cell activation, and tissue remodeling. IL1R1 is expressed on various cell types, including T cells, fibroblasts, and endothelial cells. Dysregulation of IL1R1 signaling is associated with several inflammatory and autoimmune diseases, and its expression is altered in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | IL1R1 signaling promotes synovial inflammation and joint destruction via NF-κB activation. | ClinVar, OMIM |
| Osteoarthritis | IL-1β binding to IL1R1 induces cartilage degradation and chondrocyte apoptosis. | NCBI, OMIM |
| Gout | Urate crystals stimulate IL-1β production, activating IL1R1 and triggering acute inflammation. | OMIM, ClinVar |
| Type 2 Diabetes | Chronic IL-1β signaling via IL1R1 contributes to pancreatic β-cell dysfunction and insulin resistance. | NCBI, OMIM |
| Colorectal Cancer | IL1R1 expression is elevated in tumor tissue and promotes tumor progression and metastasis. | COSMIC, NCBI |
| Asthma | IL1R1 signaling enhances airway inflammation and hyperresponsiveness. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Spleen | 8.7 | Low |
| Blood | 5.2 | Low |
| Liver | 3.1 | Low |
| Brain | 1.8 | Not detected |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.4 | High expression; used in inflammation studies |
| A549 (lung carcinoma) | 8.9 | Moderate expression; responds to IL-1β |
| HeLa (cervical carcinoma) | 4.2 | Low expression |
| MCF7 (breast carcinoma) | 2.1 | Very low expression |
| Jurkat (T cell leukemia) | 1.5 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3917225 | SNP (intronic) | Allele frequency ~0.15 | Associated with altered IL1R1 expression and inflammatory disease risk |
| rs2192752 | SNP (intronic) | Allele frequency ~0.30 | Linked to IL1R1 splicing changes; implicated in asthma |
| c.739C>T (p.Arg247Cys) | Missense | Rare (<0.01) | May affect ligand binding; reported in autoimmune conditions |
| c.1120G>A (p.Val374Met) | Missense | Rare (<0.01) | Potential impact on signaling; observed in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in IL1R1 are rare and typically result in reduced cell surface expression or impaired ligand binding, leading to diminished inflammatory responses. Such variants may predispose to infections but are not well-documented in large cohorts.
Gain of Function (GOF)
Gain-of-function mutations are uncommon; however, certain SNPs may increase IL1R1 expression or signaling, contributing to hyperinflammatory states and autoimmune diseases.
Dominant Negative (DN)
Dominant-negative effects have not been clearly established for IL1R1 mutations. The receptor functions as a heterodimer with IL1RAP, and mutations that disrupt dimerization could theoretically act in a dominant-negative manner, but evidence is lacking.
View complete mutation data：
Gene Ontology (GO)
| • interleukin-1 receptor activity | • interleukin-1 binding |
| • signal transduction | • inflammatory response |
| • cell surface receptor signaling pathway | • NF-kappaB transcription factor activity |
Pathways
• Interleukin-1 signaling
• NF-kappaB signaling
• Toll-like receptor signaling (crosstalk)
• Cytokine-cytokine receptor interaction
• Inflammatory bowel disease (IBD) pathway
Protein Summary
The IL1R1 protein is a 569-amino-acid type I transmembrane glycoprotein with an extracellular domain containing three immunoglobulin-like domains, a single transmembrane helix, and a cytoplasmic Toll/interleukin-1 receptor (TIR) domain. The TIR domain is essential for recruiting downstream adaptor proteins such as MyD88. IL1R1 is synthesized as a precursor and cleaved to form the mature receptor. It is heavily N-glycosylated, which is important for ligand binding and cell surface stability. The receptor exists in both membrane-bound and soluble forms; the soluble form (sIL1R1) acts as a decoy to modulate IL-1 activity. IL1R1 is expressed on a wide range of cells, with highest levels on T cells, fibroblasts, and endothelial cells. Its expression is regulated by various cytokines and transcription factors, including NF-κB.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL1R1 Knockout HEK293 Cell Line | EDJ-KQ568 | Human | 3554 | Details Get a Quote |
| IL1R1 Knockout A-549 Cell Line | EDJ-KQ18961 | Human | 3554 | Details Get a Quote |
| IL1R1 Knockout HCT 116 Cell Line | EDJ-KQ18962 | Human | 3554 | Details Get a Quote |
| IL1R1 Knockout HeLa Cell Line | EDJ-KQ18963 | Human | 3554 | Details Get a Quote |
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