NLR Family, Pyrin Domain-Containing 3

Alternative Names

  • NLRP3
  • CIAS1 Gene
  • CIAS1
  • Cryopyrin
  • NACHT Domain-, Leucine-Rich Repeat-, And PYD-Containing Protein 3
  • NALP3
  • Pyrin Domain-Containing Apaf1-Like Protein 1
  • PYPAF1
  • AII/AVP Receptor-Like
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OMIM Number

606416

NCBI Gene ID

114548

Uniprot ID

Q96P20

Length

32,661 bases

No. of Exons

11

No. of isoforms

6

Protein Name

NACHT, LRR and PYD domains-containing protein 3

Molecular Mass

118173 Da

Amino Acid Count

1036

Genomic Location

chr1:247,416,162-247,448,822

Gene Map Locus
1q44

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004895.5:c.2861C>TLebanonNC_000001.11:g.247444671C>TLikely Benign, Uncertain SignificanceUncertain SignificanceFamilial Mediterranean FeverNG_007509.2:g.33499C>T; NM_004895.5:c.2861C>T; NP_004886.3:p.Thr954Met139814109234293
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