NLRP3 Gene Summary
This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020]
Details
| Type | Protein Coding |
| Official Symbol | NLRP3 |
| Official Name | NLR family pyrin domain containing 3 [Source:HGNC Symbol;Acc:HGNC:16400] |
| Ensembl ID | ENSG00000162711 |
| Bio databases IDs | |
| Aliases | NLR family pyrin domain containing 3, Cryopyrin, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 |
| Synonyms | AGTAVPRL,AII,AII/AVP,AVP,C1orf7,CIAS1,CLR1.1,DFNA34,FCAS,FCAS1,FCU,KEFH,Mmig1,MWS,NALP3,NLR family pyrin domain containing 3,NLR family, pyrin domain containing 3,PYPAF1 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NLRC4 helical domain HD2
- PAAD/DAPIN/Pyrin domain
- Fish-specific NACHT associated domain
- NOD2 winged helix domain
- ADP binding
- ATP binding
- protein binding activity, bridging
- Leucine rich repeat
- transcription factor binding
- enzyme
- NACHT domain
- protease activator
- identical protein binding
- ATPase
- nucleotide-binding domain
- leucine-rich repeat
- peptidoglycan binding
- P-loop containing Nucleoside Triphosphate Hydrolases
- protein phosphatase 1 regulatory subunit 42
- walker type A motif
- linker domain
- enzyme regulator activity
- protein binding
- sequence-specific DNA binding
- phosphatidylinositol binding
- nucleotide binding oligomerization domain
- Leucine rich repeat, ribonuclease inhibitor type
- Death Domain Superfamily of protein-protein interaction domains
Pathways
Biological processes and signaling networks where the NLRP3 gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- cognitive impairment
- cancer
- epithelial neoplasia
- epithelial cancer
- hereditary disorder
- neoplasia
- neutrophilia
- periodontitis
- cryopyrin associated periodic syndrome
role in cell
- apoptosis
- growth
- binding in
- phosphorylation in
- expression in
- autophagy by
- autophagy in
- cell death
- proliferation
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular space
- cellular membrane
- Nucleus
- Mitochondria
- microtubule organizing centers
- cytosol
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the NLRP3 gene, providing context for its role in the cell.
biological PROCESS
Functions and activities the gene product is involved in
- osmosensory signaling pathway
- detection of biotic stimulus
- negative regulation of interleukin-1 beta production
- positive regulation of transcription from RNA polymerase II promoter
- pattern recognition receptor signaling pathway
- positive regulation of NF-kappaB transcription factor activity
- positive regulation of type 2 immune response
- inflammatory response
- apoptotic process
- pyroptosis
- protein maturation
- positive regulation of T-helper 2 cell cytokine production
- signal transduction
- negative regulation of inflammatory response
- positive regulation of inflammatory response
- protein homooligomerization
- positive regulation of T-helper 2 cell differentiation
- NLRP3 inflammasome complex assembly
- defense response
- negative regulation of acute inflammatory response
- positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
- cellular response to lipopolysaccharide
- innate immune response
- positive regulation of interleukin-1 beta production
- positive regulation of interleukin-4 production
cellular COMPONENT
Where in the cell the gene product is active
- nucleus
- microtubule organizing center
- interphase microtubule organizing center
- cytoplasm
- mitochondrion
- membrane
- cytosol
- endoplasmic reticulum
- Golgi membrane
- extracellular region
- NLRP3 inflammasome complex
molecular FUNCTION
What the gene product does at the molecular level
- ATPase activity
- phosphatidylinositol-4-phosphate binding
- peptidoglycan binding
- ATP binding
- identical protein binding
- protein binding
- signaling adaptor activity
- sequence-specific DNA binding
- ADP binding
- protein binding, bridging
- binding, bridging