NACHT, LRR & PYD domains-containing protein 3; angiotensin/vasopressin receptor AII/AVP-like; caterpiller protein 1.1; CLR1.1; cold autoinflammatory syndrome 1 protein; Cryopyrin; PYRIN-containing APAF1-like protein 1 (NLRP3, C1orf7, CIAS1, NALP3 ,PYPAF1)
Jump to navigation
Jump to search
Function
- induces apoptosis (putative)
- interacts selectively with apoptosis-associated specklike protein containing a CARD domain (ASC)
- upstream activator of NF-kappa-B signaling
- inhibits TNF-alpha induced activation & nuclear translocation of RELA/NF-KB p65
- inhibits transcriptional activity of RELA
- involved in interleukin-1 beta pathways in the inflammatory cascade
- component of inflammasome
Structure
- belongs to the NLRP family
- contains 1 DAPIN domain
- contains 9 LRR repeats (leucine-rich repeats)
- contains 1 NACHT domain
Compartment
Alternative splicing
named isoforms=5
Expression
- expressed in blood leukocytes, polymorphonuclear cells >> B- & T-lymphoblasts
- high level of expression detected in chondrocytes
- induced by TNF-alpha
Pathology
- defects in CIAS1 are a cause of
More general terms
Component of
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q96P20.html
- ↑ INFEVERS: Repertory of FMF & hereditary autoinflammatory disorders mutations http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=4
GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/NLRP3
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=114548
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:114548
- OMIM: https://mirror.omim.org/entry/120100
- OMIM: https://mirror.omim.org/entry/191900
- OMIM: https://mirror.omim.org/entry/606416
- OMIM: https://mirror.omim.org/entry/607115
- UniProt: http://www.uniprot.org/uniprot/Q96P20.html