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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, Oct 2008]
NLRP3 (NLR Family Pyrin Domain Containing 3) is a Protein Coding gene. Diseases associated with NLRP3 include Muckle-Wells Syndrome and Cinca Syndrome. Among its related pathways are NOD-like receptor signaling pathway and Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. Gene Ontology (GO) annotations related to this gene include peptidoglycan binding. An important paralog of this gene is NLRP12.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 11786556 |
GO:0005524 | ATP binding | IEA | -- |
GO:0008134 | transcription factor binding | ISS | -- |
GO:0042802 | identical protein binding | IPI | 23582325 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IDA | 23229815 |
GO:0005576 | extracellular region | IEA | -- |
GO:0005634 | nucleus | ISS | -- |
GO:0005737 | cytoplasm | TAS | 15967716 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways |
.01
|
|
2 | Innate Immune System |
.61
|
|
3 | Metabolism of proteins | ||
4 | C-type lectin receptor signaling pathway | ||
5 | Measles |
.33
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002374 | cytokine secretion involved in immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002674 | negative regulation of acute inflammatory response | IMP | 11687797 |
GO:0002830 | positive regulation of type 2 immune response | ISS | -- |
GO:0006915 | apoptotic process | NAS | 12032915 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | NLRP3 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | NLRP3 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | NLRP3 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Nlrp3 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Nlrp3 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | NLRP3 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
ManyToMany | |
chicken (Gallus gallus) |
Aves | NLRP3 32 |
|
||
-- 33 |
|
OneToMany | |||
lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC101730774 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | si:ch211-66k16.2 33 |
|
ManyToMany | |
CU693495.1 33 |
|
ManyToMany | |||
nlrb5 33 |
|
ManyToMany | |||
si:ch211-66k16.28 33 |
|
ManyToMany |
SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1042817230 | uncertain-significance, Familial cold autoinflammatory syndrome, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome | 247,418,598(+) | G/A/C | 5_prime_UTR_variant, intron_variant | |
rs104895389 | not-provided, Familial cold urticaria | 247,425,148(+) | G/A | coding_sequence_variant, missense_variant | |
rs104895392 | not-provided, Familial cold urticaria | 247,424,234(+) | T/C/G | coding_sequence_variant, missense_variant | |
rs104895398 | not-provided, Familial cold urticaria | 247,424,832(+) | C/T | coding_sequence_variant, synonymous_variant | |
rs104895414 | not-provided, Familial cold urticaria | 247,425,511(+) | G/A | coding_sequence_variant, missense_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv62e201 | CNV | deletion | 23290073 |
esv2440127 | CNV | deletion | 19546169 |
esv24867 | CNV | loss | 19812545 |
esv2727729 | CNV | deletion | 23290073 |
esv2727740 | CNV | deletion | 23290073 |
esv2727751 | CNV | deletion | 23290073 |
esv2727762 | CNV | deletion | 23290073 |
esv2727773 | CNV | deletion | 23290073 |
esv3306486 | CNV | mobile element insertion | 20981092 |
esv33129 | CNV | gain+loss | 17666407 |
esv3326129 | CNV | insertion | 20981092 |
esv4825 | CNV | loss | 18987735 |
nsv1011097 | CNV | gain | 25217958 |
nsv1068649 | CNV | deletion | 25765185 |
nsv1115071 | CNV | deletion | 24896259 |
nsv1127073 | CNV | deletion | 24896259 |
nsv509790 | CNV | insertion | 20534489 |
nsv833137 | CNV | gain | 17160897 |
nsv956594 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
muckle-wells syndrome |
|
|
cinca syndrome |
|
|
familial cold autoinflammatory syndrome 1 |
|
|
keratoendotheliitis fugax hereditaria |
|
|
deafness, autosomal dominant 34, with or without inflammation |
|