NLRP3 Gene
NLR Family Pyrin Domain Containing 3
Gene Information Card
| Symbol | NLRP3 |
|---|---|
| Full Name | NLR family pyrin domain containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q44 |
| NCBI Gene ID | 114548 ncbi.nlm.nih.gov/gene/114548 |
| Ensembl ID | ENSG00000162772 |
| UniProt ID | Q96P20 |
| OMIM ID | 606416 |
| HGNC ID | 16400 |
| Aliases | CIAS1, FCAS, MWS, NALP3, PYPAF1 |
Description
NLRP3 encodes cryopyrin, a key component of the NLRP3 inflammasome complex. This protein is involved in the innate immune response by sensing cellular damage and pathogens, leading to caspase-1 activation and subsequent release of pro-inflammatory cytokines IL-1β and IL-18. Gain-of-function mutations in NLRP3 cause cryopyrin-associated periodic syndromes (CAPS), a spectrum of autoinflammatory disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cryopyrin-Associated Periodic Syndromes (CAPS) | Gain-of-function mutations lead to constitutive inflammasome activation and excessive IL-1β production | ClinVar, OMIM |
| Muckle-Wells Syndrome (MWS) | Missense mutations in NLRP3 cause increased inflammasome activity | ClinVar, OMIM |
| Familial Cold Autoinflammatory Syndrome (FCAS) | Mutations result in cold-induced inflammasome hyperactivation | ClinVar, OMIM |
| Chronic Infantile Neurological Cutaneous and Articular Syndrome (CINCA) | Severe gain-of-function mutations cause systemic inflammation | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 4.1 | Low |
| Bone marrow | 3.9 | Low |
| Lymph node | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.2 | High expression |
| U937 (macrophage) | 12.8 | High expression |
| HL-60 (neutrophil) | 9.5 | Medium expression |
| HeLa (cervical) | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1043C>T (p.Ala348Val) | Missense | Common in CAPS | Gain-of-function |
| c.1316C>T (p.Thr439Met) | Missense | Associated with MWS | Gain-of-function |
| c.1699G>A (p.Glu567Lys) | Missense | Found in FCAS | Gain-of-function |
| c.907G>A (p.Asp303Asn) | Missense | Reported in CINCA | Gain-of-function |
Mutation functional classification
Loss of Function (LOF)
Rare; typically not associated with disease phenotype.
Gain of Function (GOF)
Most common; leads to constitutive inflammasome activation and CAPS.
Dominant Negative (DN)
Not reported for NLRP3.
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:0045087 ~ innate immune response |
| • GO:0072559 ~ NLRP3 inflammasome complex assembly |
Pathways
• NLRP3 inflammasome pathway (Reactome R-HSA-844456)
• Interleukin-1 family signaling (Reactome R-HSA-446652)
• Innate Immune System (Reactome R-HSA-168249)
Protein Summary
Cryopyrin (NLRP3) is a 1036-amino acid protein containing an N-terminal pyrin domain (PYD), a central NACHT domain, and C-terminal leucine-rich repeats (LRR). It functions as a pattern recognition receptor that assembles the NLRP3 inflammasome upon sensing microbial motifs, ATP, or crystalline substances. Mutations in the NACHT domain are most frequently associated with autoinflammatory disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NLRP3 Knockout MARC145 Cell Line | EDJ-KQ78172 | African green monkey | 114548 | Details Get a Quote |
| Nlrp3 Knockout BV-2 Cell Line | EDC90056 | Mouse | 216799 | Details Get a Quote |
| NLRP3 Knockout HEK293 Cell Line | EDJ-KQ17888 | Human | 114548 | Details Get a Quote |
| NLRP3 Knockout THP-1 Cell Line | EDJ-KZ367 | Human | 114548 | Details Get a Quote |
| NLRP3 Knockout HeLa Cell Line | EDJ-KQ57921 | Human | 114548 | Details Get a Quote |
| NLRP3 Knockout A-549 Cell Line | EDJ-KQ66411 | Human | 114548 | Details Get a Quote |
| NLRP3 Knockout HCT 116 Cell Line | EDJ-KQ74837 | Human | 114548 | Details Get a Quote |
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