Aliases for NLRP1 Gene
- NLR Family Pyrin Domain Containing 1 2 3 5
- DEFCAP 2 3 4
- CARD7 2 3 4
- NAC 2 3 4
- Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 1 2 3
- NACHT, Leucine Rich Repeat And PYD (Pyrin Domain) Containing 1 2 3
- Death Effector Filament-Forming Ced-4-Like Apoptosis Protein 3 4
- Nucleotide-Binding Domain And Caspase Recruitment Domain 3 4
- NACHT, LRR And PYD Domains-Containing Protein 1 3 4
- Caspase Recruitment Domain-Containing Protein 7 3 4
- KIAA0926 2 4
- CLR17.1 2 3
- VAMAS1 2 3
External Ids for NLRP1 Gene
Previous HGNC Symbols for NLRP1 Gene
Previous GeneCards Identifiers for NLRP1 Gene
This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for NLRP1 Gene
NLRP1 (NLR Family Pyrin Domain Containing 1) is a Protein Coding gene. Diseases associated with NLRP1 include Palmoplantar Carcinoma, Multiple Self-Healing and Respiratory Papillomatosis, Juvenile Recurrent, Congenital. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and NF-kappaB Signaling. Gene Ontology (GO) annotations related to this gene include enzyme binding and cysteine-type endopeptidase activator activity involved in apoptotic process. An important paralog of this gene is NLRP12.
UniProtKB/Swiss-Prot Summary for NLRP1 Gene
As the sensor component of the NLRP1 inflammasome, plays a crucial role in innate immunity and inflammation. Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP1, CASP1, and possibly PYCARD. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu (PubMed:33093214). Activation of NLRP1 inflammasome is also required for HMGB1 secretion. The active cytokines and HMGB1 stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death (PubMed:22665479, PubMed:17418785). May be activated by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, in a NOD2-dependent manner (PubMed:18511561). Binds ATP (PubMed:11113115, PubMed:15212762). Plays an important role in antiviral immunity and inflammation in the human airway epithelium. Upon infection by human rhinoviruses 14 and 16 (HRV-14 and HRV-16), NLRP1 is cleaved and activated which triggers NLRP1-dependent inflammasome activation and IL18 secretion (PubMed:33093214). Contrary to its mouse ortholog, not activated by Bacillus anthracis lethal toxin (PubMed:19651869).
[Isoform 2]: It is unclear whether is involved in inflammasome formation. It is not cleaved within the FIIND domain, does not assemble into specks, nor promote IL1B release (PubMed:22665479). However, in an vitro cell-free system, it has been shown to be activated by MDP (PubMed:17349957).