NLRP3

NLR family pyrin domain containing 3

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000162711
UniProt:
Q96P20
OMIM:
606416
Synonyms:
AGTAVPRL, AII, AVP, C1ORF7, CIAS1, CLR1.1, DFNA34, FCAS, FCU, MWS, NALP3, PYPAF1

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.03) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
autosomal dominant nonsyndromic hearing loss

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

References: PMID:36332880

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:37063430

Functional category

  • Motile cilium & axoneme

Function

NLRP3 inflammasome activation resulted in ciliary dysplasia and dyskinesia in the LSPC-derived airway epithelium(PMID: 37063430).