NLRP1B: A Key Inflammasome Sensor in Rodent Immunity
Comprehensive genomic and functional analysis of the Nlrp1b gene, a critical regulator of pyroptosis and innate immune responses in mice.
Gene Information Card
| Symbol | Nlrp1b |
|---|---|
| Full Name | NLR family, pyrin domain containing 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 11 B1.3 (mouse); 11q13.4 (human ortholog) |
| NCBI Gene ID | 637643 ncbi.nlm.nih.gov/gene/637643 |
| Ensembl ID | ENSMUSG00000070390 |
| UniProt ID | Q3UQ44 |
| OMIM ID | 606636 |
| HGNC ID | N/A (mouse gene; human ortholog: NLRP1, HGNC:22974) |
| Aliases | Nalp1b, Nalp1b-ps, Nlrp1b-ps |
Description
Nlrp1b (NLR family, pyrin domain containing 1B) is a protein-coding gene in mice that encodes a key component of the NLRP1B inflammasome. This sensor detects bacterial toxins such as lethal toxin from Bacillus anthracis and induces pyroptosis via caspase-1 activation. Nlrp1b is highly polymorphic among mouse strains, with distinct alleles determining susceptibility to anthrax lethal toxin. The gene is primarily expressed in immune tissues and plays a critical role in innate immunity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anthrax (Bacillus anthracis infection) | Nlrp1b directly senses lethal toxin (LT) via proteolytic cleavage, leading to inflammasome assembly and IL-1β release. | NCBI Gene, UniProt |
| Inflammatory disorders (mouse models) | Polymorphisms in Nlrp1b alter inflammasome activation thresholds, influencing susceptibility to autoinflammatory conditions. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Lung | 6.1 | Low |
| Thymus | 4.7 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RAW 264.7 (macrophage) | 15.0 | High expression; functional in inflammasome assays |
| J774A.1 (macrophage) | 10.2 | Moderate expression |
| NIH/3T3 (fibroblast) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Q593P (mouse strain BALB/c) | Missense | Common | Loss of lethal toxin sensitivity |
| p.P1054S (mouse strain 129) | Missense | Rare | Gain of function; enhanced inflammasome activation |
| Allelic variants (Nlrp1b^S, Nlrp1b^R) | Polymorphism | Variable | Determines susceptibility to anthrax lethal toxin |
Mutation functional classification
Loss of Function (LOF)
p.Q593P in BALB/c mice disrupts lethal toxin sensing, preventing inflammasome activation.
Gain of Function (GOF)
p.P1054S in 129 mice enhances caspase-1 cleavage and IL-1β release.
Dominant Negative (DN)
Not reported for Nlrp1b.
View complete mutation data：
Gene Ontology (GO)
| • GO:0002218 ~ activation of innate immune response | • GO:0005515 ~ protein binding |
| • GO:0043065 ~ positive regulation of apoptotic process | • GO:0072559 ~ NLRP1 inflammasome complex |
| • GO:0008234 ~ cysteine-type peptidase activity |
Pathways
• NLRP1 inflammasome pathway (Reactome: R-MMU-844456)
• Pyroptosis (KEGG: mmu04217)
• Cytosolic sensing of pathogen-associated molecular patterns (PAMPs)
Protein Summary
The NLRP1B protein (UniProt Q3UQ44) is a 1,233-amino acid member of the NLR family. It contains an N-terminal pyrin domain (PYD), a central NACHT domain, and C-terminal leucine-rich repeats (LRRs). Upon sensing anthrax lethal toxin, NLRP1B undergoes autoproteolytic cleavage and assembles into an inflammasome complex with ASC and pro-caspase-1, leading to caspase-1 activation, IL-1β maturation, and pyroptotic cell death. The protein is predominantly expressed in macrophages and dendritic cells.
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| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Nlrp1b Knockout IBMDM Cell Line | EDC08160 | Mouse | 637515 | Details Get a Quote |
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