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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)
Function:
1) induces apoptosis (putative)
2) interacts selectively with apoptosis-associated specklike protein containing a CARD domain (ASC)
- upstream activator of NF-kappa-B signaling
3) inhibits TNF-alpha induced activation & nuclear translocation of RELA/NF-KB p65
4) inhibits transcriptional activity of RELA
5) involved in interleukin-1 beta pathways in the inflammatory cascade
6) 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: cytoplasm
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
- cryopyrin associated periodic syndrome
- familial cold autoinflammatory syndrome
- Muckle-Wells syndrome
- chronic infantile neurologic cutaneous articular syndrome
General
leucine-rich repeat-containing protein (LRRC)
Properties
SIZE: entity length = 1036 aa
MW = 118 kD
COMPARTMENT: cytoplasm
MOTIF: DAPIN domain {1-93}
NACHT domain
NAME: NACHT domain
SITE: 220-536
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 226-233
glutamate-rich region {690-697}
MOTIF: glutamate residue (SEVERAL)
leucine-rich repeat
SITE: 742-762
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 771-792
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 799-819
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 828-849
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 856-876
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 885-906
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 913-933
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 942-963
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 970-991
MOTIF: leucine residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 606416
UniProt Q96P20
Pfam PF02758
Entrez Gene 114548
Kegg hsa:114548
References
- UniProt :accession Q96P20
- 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
Component-of
inflammasome