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 and positive regulation of pyroptosis. Acts upstream of or within pyroptosis. Part of NLRP3 inflammasome complex and enzyme activator 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
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001870 | B30.2/SPRY domain |
Domain | IPR003877 | SPRY domain |
Domain | IPR003879 | Butyrophylin-like, SPRY domain |
Domain | IPR004020 | DAPIN domain |
Domain | IPR006574 | SPRY-associated |
Domain | IPR007111 | NACHT nucleoside triphosphatase |
Domain | IPR029495 | NACHT-associated domain |
Domain | IPR041075 | NOD1/2, winged helix domain |
Domain | IPR041267 | NACHT, LRR and PYD domains-containing protein, helical domain HD2 |
Family | IPR051261 | NOD-like receptor (NLR) |
Homologous_superfamily | IPR011029 | Death-like domain superfamily |
Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR032675 | Leucine-rich repeat domain superfamily |
Homologous_superfamily | IPR043136 | B30.2/SPRY domain superfamily |
Repeat | IPR001611 | Leucine-rich repeat |
Domain Details Per Protein
Protein | Length | B30.2/SPRY domain | B30.2/SPRY domain superfamily | Butyrophylin-like, SPRY domain | Concanavalin A-like lectin/glucanase domain superfamily | DAPIN domain | Death-like domain superfamily | Leucine-rich repeat | Leucine-rich repeat domain superfamily | NACHT-associated domain | NACHT, LRR and PYD domains-containing protein, helical domain HD2 | NACHT nucleoside triphosphatase | NOD1/2, winged helix domain | NOD-like receptor (NLR) | P-loop containing nucleoside triphosphate hydrolase | SPRY-associated | SPRY domain |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M6YY09
|
1121 |
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