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Description for Protein NLRP3

NLR family, pyrin domain containing 3
3 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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 NALP3 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. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). 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] (PubMed Links)
Domains and Motifs:
  • LRR: Leucine-rich repeats, outliers
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K12800
    KEGG - Pathway(s):
    hsa04621
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Cold autoinflammatory syndrome 1 protein; NACHT, LRR and PYD containing protein 3; PYRIN containing APAF1 like protein 1; Angiotensin/vasopressin receptor AII/AVP like; NALP3; PYPAF1; FCAS; C1orf7; Cryopyrin isoform a; Cryopyrin isoform b; NLR family, pyrin domain containing 3 isoform a
    Approved Symbol:
    NLRP3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Cinca syndrome(Pd);
  • Familial cold autoinflammatory syndrome(Pd);
  • Muckle-Wells syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05915 Entrez Gene ID: 114548 OMIM ID: 606416 Swissprot Accession: Q96P20; B2RC97;