NLRP11: A Key Regulator of Inflammasome Signaling and Innate Immunity
Comprehensive genomic and functional analysis of NLRP11, a member of the NLR family involved in inflammatory and immune responses.
Gene Information Card
| Symbol | NLRP11 |
|---|---|
| Full Name | NLR family pyrin domain containing 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 204801 ncbi.nlm.nih.gov/gene/204801 |
| Ensembl ID | ENSG00000179818 |
| UniProt ID | Q86W26 |
| OMIM ID | 609649 |
| HGNC ID | 22954 |
| Aliases | NOD17, PAN11, CLR19.6 |
Description
NLRP11 (NLR family pyrin domain containing 11) is a member of the nucleotide-binding and leucine-rich repeat (NLR) family. It functions as a pattern recognition receptor (PRR) in the innate immune system, involved in the formation of inflammasomes and activation of inflammatory signaling pathways, including NF-κB and caspase-1. NLRP11 is primarily expressed in immune tissues and plays a role in host defense against pathogens.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory bowel disease (IBD) | Dysregulation of NLRP11-mediated inflammasome activation leads to excessive IL-1β production and chronic intestinal inflammation. | GWAS and functional studies (PMID: 23128233) |
| Rheumatoid arthritis | NLRP11 variants associated with altered cytokine secretion and synovial inflammation. | Case-control association studies (PMID: 25687183) |
| Candidiasis | NLRP11 deficiency impairs recognition of Candida albicans, reducing IL-1β response. | In vitro functional assays (PMID: 29263200) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Bone marrow | 7.2 | Low |
| Lung | 4.1 | Low |
| Whole blood | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.2 | High expression; used in inflammasome studies |
| U937 (macrophage) | 11.8 | Medium expression; induced by LPS |
| Jurkat (T-cell) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Trp) | Missense | 0.001% (gnomAD) | Altered ATP-binding and reduced inflammasome activity |
| c.1546G>A (p.Gly516Arg) | Missense | 0.0005% (gnomAD) | Impaired oligomerization and IL-1β secretion |
| c.2110delC (p.Leu704Trpfs*12) | Frameshift | <0.0001% | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.2110delC) lead to truncated protein and loss of inflammasome activity.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance NF-κB signaling.
Dominant Negative (DN)
Missense variants in the NACHT domain (e.g., p.Arg335Trp) may interfere with wild-type NLRP11 function.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • protein homodimerization activity |
| • cysteine-type endopeptidase activator activity involved in apoptotic process | • inflammasome complex |
| • innate immune response | • positive regulation of NF-κB transcription factor activity |
| • positive regulation of interleukin-1 beta production |
Pathways
• NOD-like receptor signaling pathway (KEGG: hsa04621)
• Inflammasome pathway (Reactome: R-HSA-844456)
• Cytokine Signaling in Immune system (Reactome: R-HSA-1280215)
Protein Summary
NLRP11 is a 1,033-amino-acid protein containing an N-terminal pyrin domain (PYD), a central NACHT domain, and C-terminal leucine-rich repeats (LRRs). It acts as a scaffold for inflammasome assembly, recruiting ASC and pro-caspase-1 via PYD-PYD interactions. Upon activation by microbial ligands or cellular stress, NLRP11 promotes caspase-1 cleavage and IL-1β/IL-18 maturation. Its expression is restricted to immune cells and tissues, and it is implicated in autoimmune and infectious diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NLRP11 Knockout HEK293 Cell Line | EDJ-KQ5976 | Human | 204801 | Details Get a Quote |
| NLRP11 Knockout HCT 116 Cell Line | EDJ-KQ29549 | Human | 204801 | Details Get a Quote |
| NLRP11 Knockout HeLa Cell Line | EDJ-KQ59054 | Human | 204801 | Details Get a Quote |
| NLRP11 Knockout A-549 Cell Line | EDJ-KQ67531 | Human | 204801 | Details Get a Quote |
