NLRP9: A Key Inflammasome Sensor in Epithelial Immunity
Nucleotide-binding oligomerization domain, Leucine rich repeat and Pyrin domain containing 9
Gene Information Card
| Symbol | NLRP9 |
|---|---|
| Full Name | NLR family pyrin domain containing 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 338321 ncbi.nlm.nih.gov/gene/338321 |
| Ensembl ID | ENSG00000182481 |
| UniProt ID | Q7RTR0 |
| OMIM ID | 609662 |
| HGNC ID | 22940 |
| Aliases | PYPAF9, CLR19.4, NALP9, NOD16 |
Description
NLRP9 (NLR family pyrin domain containing 9) is a member of the NOD-like receptor (NLR) family, characterized by an N-terminal pyrin domain (PYD), a central NACHT domain, and C-terminal leucine-rich repeats (LRRs). It functions as a pattern recognition receptor that assembles an inflammasome complex in response to specific microbial and danger signals, particularly in intestinal epithelial cells. NLRP9 is implicated in host defense against rotavirus infection and in inflammatory bowel disease susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rotavirus infection | NLRP9b (mouse ortholog) forms an inflammasome with ASC and caspase-1 to restrict rotavirus replication in intestinal epithelial cells | PMID: 28514451 |
| Inflammatory bowel disease (IBD) | Genetic variants in NLRP9 are associated with altered inflammasome activation and intestinal inflammation | PMID: 28130356 |
| Colorectal cancer | Dysregulated NLRP9 expression may contribute to tumor microenvironment modulation via IL-1β and IL-18 | PMID: 32015517 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.3 | Medium |
| Colon | 9.8 | Medium |
| Stomach | 6.5 | Low |
| Spleen | 4.2 | Low |
| Lung | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 15.2 | Intestinal epithelial cell line |
| HT-29 | 11.7 | Colorectal adenocarcinoma cell line |
| HCT 116 | 9.4 | Colorectal carcinoma cell line |
| HeLa | 2.1 | Cervical carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact |
| c.2047G>A (p.Gly683Arg) | Missense | <0.01% | Predicted damaging (SIFT) |
| c.2780_2781insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.2780_2781insA) are predicted to truncate the protein, impairing inflammasome assembly.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NLRP9.
Dominant Negative (DN)
No dominant-negative mutations described for NLRP9.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NOD-like receptor signaling pathway (KEGG: hsa04621)
• NLRP9 inflammasome pathway (Reactome: R-HSA-844456)
Protein Summary
NLRP9 is a 979-amino acid protein (UniProt Q7RTR0) containing an N-terminal pyrin domain (PYD), a central NACHT domain, and C-terminal leucine-rich repeats (LRRs). It localizes to the cytoplasm and upon activation by microbial ligands (e.g., rotavirus dsRNA) oligomerizes via the NACHT domain, recruiting ASC and pro-caspase-1 to form the NLRP9 inflammasome. This complex promotes caspase-1 activation, leading to cleavage of pro-IL-1β and pro-IL-18 and induction of pyroptosis. NLRP9 is predominantly expressed in intestinal epithelium and plays a critical role in antiviral defense.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NLRP9 Knockout HEK293 Cell Line | EDJ-KQ14439 | Human | 338321 | Details Get a Quote |
| NLRP9 Knockout HeLa Cell Line | EDJ-KQ59603 | Human | 338321 | Details Get a Quote |
| NLRP9 Knockout A-549 Cell Line | EDJ-KQ68068 | Human | 338321 | Details Get a Quote |
| NLRP9 Knockout HCT 116 Cell Line | EDJ-KQ76445 | Human | 338321 | Details Get a Quote |
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