Gene
nlrp3
- ID
- ZDB-GENE-070424-110
- Name
- NLR family pyrin domain containing 3
- Symbol
- nlrp3 Nomenclature History
- Previous Names
-
- si:ch211-114l13.10
- si:dkey-156m2.3
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Involved in NLRP3 inflammasome complex assembly; positive regulation of pyroptotic inflammatory response; and regulation of programmed cell death. Acts upstream of or within pyroptotic inflammatory response. Part of NLRP3 inflammasome complex. Is expressed in gill and intestine. Human ortholog(s) of this gene implicated in CINCA Syndrome; Muckle-Wells syndrome; autosomal dominant nonsyndromic deafness 34; familial cold autoinflammatory syndrome 1; and urticaria. Orthologous to human NLRP3 (NLR family pyrin domain containing 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 34 | Alliance | Deafness, autosomal dominant 34, with or without inflammation | 617772 |
| CINCA Syndrome | Alliance | CINCA syndrome | 607115 |
| familial cold autoinflammatory syndrome 1 | Alliance | Familial cold inflammatory syndrome 1 | 120100 |
| Muckle-Wells syndrome | Alliance | Muckle-Wells syndrome | 191900 |
| Keratoendothelitis fugax hereditaria | 148200 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0A8M6YY09 | InterPro | 1121 |
| UniProtKB:A0AB32TTK4 | InterPro | 1114 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:dkey-156m2.3-201
(1)
|
Ensembl | 6,595 nt |
Interactions and Pathways
No data available
Plasmids
No data available