IL1B Gene (Interleukin-1 Beta): Function, Disease Associations, and Expression
A comprehensive overview of the IL1B gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | IL1B |
|---|---|
| Full Name | Interleukin 1 beta |
| Gene Type | protein coding |
| Chromosomal Location | 2q14.1 |
| NCBI Gene ID | 3553 ncbi.nlm.nih.gov/gene/3553 |
| Ensembl ID | ENSG00000125538 |
| UniProt ID | P01584 |
| OMIM ID | 147720 |
| HGNC ID | 5992 |
| Aliases | IL-1, IL1-BETA, IL1F2, IL1beta |
Description
The IL1B gene encodes interleukin-1 beta, a potent pro-inflammatory cytokine produced primarily by activated macrophages and monocytes. It is a key mediator of the inflammatory response, involved in cell proliferation, differentiation, and apoptosis. IL-1 beta is synthesized as an inactive precursor (pro-IL-1 beta) that is cleaved by caspase-1 (inflammasome) to its active form. It exerts its effects by binding to the IL-1 receptor (IL1R1) and recruiting the IL-1 receptor accessory protein (IL1RAP), leading to NF-kB and other signaling cascades. Dysregulation of IL1B is implicated in numerous inflammatory and autoimmune diseases, as well as cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | IL-1 beta promotes synovial inflammation and joint destruction by inducing prostaglandins, matrix metalloproteinases, and osteoclast activation. | ClinVar, OMIM |
| Type 2 Diabetes | IL-1 beta contributes to pancreatic beta-cell dysfunction and apoptosis, impairing insulin secretion. | ClinVar, OMIM |
| Atherosclerosis | IL-1 beta drives vascular inflammation, plaque formation, and instability. | ClinVar, OMIM |
| Familial Mediterranean Fever (FMF) | Mutations in MEFV lead to increased IL-1 beta production, causing recurrent fevers and serositis. | OMIM |
| Cryopyrin-Associated Periodic Syndromes (CAPS) | Gain-of-function mutations in NLRP3 enhance inflammasome activation, leading to excessive IL-1 beta release. | OMIM |
| Gout | Monosodium urate crystals activate the NLRP3 inflammasome, triggering IL-1 beta secretion and acute inflammation. | OMIM |
| Cancer (e.g., gastric, lung) | IL-1 beta promotes tumor angiogenesis, invasion, and metastasis via NF-kB and MAPK pathways. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole Blood | 0.4 | Low |
| Spleen | 0.3 | Low |
| Lung | 0.2 | Low |
| Bone Marrow | 0.1 | Low |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocytic leukemia) | 0.0 | Low baseline; inducible by LPS |
| A549 (lung carcinoma) | 0.0 | Inducible by inflammatory stimuli |
| HeLa (cervical adenocarcinoma) | 0.0 | Low; inducible |
| MCF7 (breast adenocarcinoma) | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1143627 (promoter) | SNP | ~30% (C allele) | Alters transcription factor binding, affects IL1B expression levels |
| rs16944 (promoter) | SNP | ~35% (A allele) | Associated with increased IL-1 beta production and susceptibility to inflammatory diseases |
| rs1143634 (exon 5, synonymous) | SNP | ~25% (T allele) | No amino acid change; may affect mRNA stability |
| rs1143629 (promoter) | SNP | ~20% (C allele) | Linked to altered IL1B expression and disease risk |
Mutation functional classification
Loss of Function (LOF)
Rare loss-of-function mutations in IL1B are not well-documented; complete deficiency is likely lethal due to impaired immune response.
Gain of Function (GOF)
Gain-of-function mutations are not common in IL1B itself; however, upstream inflammasome mutations (e.g., NLRP3) lead to excessive IL-1 beta production.
Dominant Negative (DN)
No dominant-negative mutations reported for IL1B.
View complete mutation data：
Gene Ontology (GO)
| • cytokine activity | • interleukin-1 receptor binding |
| • protein binding | • signaling receptor binding |
| • extracellular space | • extracellular region |
| • cytoplasm | • inflammatory response |
| • immune response | • positive regulation of NF-kB transcription factor activity |
| • positive regulation of cell proliferation | • apoptotic process |
Pathways
• IL-1 signaling pathway
• NOD-like receptor signaling pathway
• Toll-like receptor signaling pathway
• Cytokine-cytokine receptor interaction
• Inflammatory bowel disease (IBD)
• Rheumatoid arthritis
• Type I diabetes mellitus
• Alzheimer's disease
Protein Summary
Interleukin-1 beta (IL-1 beta) is a 17 kDa pro-inflammatory cytokine that is synthesized as a 31 kDa precursor (pro-IL-1 beta). It is cleaved by caspase-1, which is activated within the inflammasome complex, to produce the mature, secreted form. Mature IL-1 beta binds to the IL-1 receptor type 1 (IL1R1) and recruits the IL-1 receptor accessory protein (IL1RAP), initiating a signaling cascade that involves MyD88, IRAK, TRAF6, and NF-kB, leading to the transcription of inflammatory genes. IL-1 beta is a key mediator of fever, acute-phase response, and immune cell recruitment. Its activity is tightly regulated by the IL-1 receptor antagonist (IL1RN) and the decoy receptor IL1R2. Dysregulated IL-1 beta production is central to several autoinflammatory diseases, and its inhibition is a therapeutic target (e.g., anakinra, canakinumab).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL1B Knockout HEK293 Cell Line | EDJ-KQ140 | Human | 3553 | Details Get a Quote |
| IL1B Knockout HeLa Cell Line | EDJ-KQ18960 | Human | 3553 | Details Get a Quote |
| IL1B Knockout A-549 Cell Line | EDJ-KQ62103 | Human | 3553 | Details Get a Quote |
| IL1B Knockout HCT 116 Cell Line | EDJ-KQ70590 | Human | 3553 | Details Get a Quote |
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