NLRP3
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| NLR family pyrin domain containing 3 | MIM:606416 | Ensembl:ENSG00000162711 | HGNC:HGNC:16400 | PA26512 | 1q44 |
GO terms in NLRP3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | ISS | GO:0008134 | transcription factor binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | TAS | GO:0042834 | peptidoglycan binding |
| MF | ISS | GO:0043565 | sequence-specific DNA binding |
| CC | IEA | GO:0005576 | extracellular region |
| CC | ISS | GO:0005634 | nucleus |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005737 | cytoplasm |
| CC | IEA | GO:0005783 | endoplasmic reticulum |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0072559 | NLRP3 inflammasome complex |
| BP | IEA | GO:0002374 | cytokine secretion involved in immune response |
| BP | IMP | GO:0002674 | negative regulation of acute inflammatory response |
| BP | ISS | GO:0002830 | positive regulation of type 2 immune response |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | NAS | GO:0006915 | apoptotic process |
| BP | IEA | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process |
| BP | TAS | GO:0006952 | defense response |
| BP | IMP | GO:0006954 | inflammatory response |
| BP | NAS | GO:0007165 | signal transduction |
| BP | TAS | GO:0009595 | detection of biotic stimulus |
| BP | IBA | GO:0009617 | response to bacterium |
| BP | TAS | GO:0016579 | protein deubiquitination |
| BP | IDA | GO:0032088 | negative regulation of NF-kappaB transcription factor activity |
| BP | IEA | GO:0032611 | interleukin-1 beta production |
| BP | IEA | GO:0032621 | interleukin-18 production |
| BP | IEA | GO:0032736 | positive regulation of interleukin-13 production |
| BP | ISS | GO:0032753 | positive regulation of interleukin-4 production |
| BP | IEA | GO:0032754 | positive regulation of interleukin-5 production |
| BP | IBA | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process |
| BP | IDA | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process |
| BP | IEA | GO:0044546 | NLRP3 inflammasome complex assembly |
| BP | IEA | GO:0045087 | innate immune response |
| BP | ISS | GO:0045630 | positive regulation of T-helper 2 cell differentiation |
| BP | ISS | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0050701 | interleukin-1 secretion |
| BP | IMP | GO:0050713 | negative regulation of interleukin-1 beta secretion |
| BP | IBA | GO:0050718 | positive regulation of interleukin-1 beta secretion |
| BP | IDA | GO:0050718 | positive regulation of interleukin-1 beta secretion |
| BP | IMP | GO:0050728 | negative regulation of inflammatory response |
| BP | IEA | GO:0050830 | defense response to Gram-positive bacterium |
| BP | IDA | GO:0051092 | positive regulation of NF-kappaB transcription factor activity |
| BP | IPI | GO:0051092 | positive regulation of NF-kappaB transcription factor activity |
| BP | TAS | GO:0051259 | protein complex oligomerization |
| BP | IEA | GO:0051607 | defense response to virus |
| BP | IMP | GO:0071222 | cellular response to lipopolysaccharide |
| BP | IEA | GO:0071224 | cellular response to peptidoglycan |
| BP | IDA | GO:1901223 | negative regulation of NIK/NF-kappaB signaling |
| BP | IEA | GO:2000321 | positive regulation of T-helper 17 cell differentiation |
| BP | ISS | GO:2000553 | positive regulation of T-helper 2 cell cytokine production |
Gene expression in normal tissue: NLRP3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NLRP3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04217 | Necroptosis - Homo sapiens (human) |
| kegg | hsa04621 | NOD-like receptor signaling pathway - Homo sapiens (human) |
| kegg | hsa04625 | C-type lectin receptor signaling pathway - Homo sapiens (human) |
| kegg | hsa05133 | Pertussis - Homo sapiens (human) |
| kegg | hsa05164 | Influenza A - Homo sapiens (human) |
| wikipathways | WP1433 | Nucleotide-binding Oligomerization Domain (NOD) pathway |
| wikipathways | WP2865 | IL1 and megakaryocytes in obesity |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168643 | Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways |
| reactome | R-HSA-168643 | Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5688426 | Deubiquitination |
| reactome | R-HSA-5689901 | Metalloprotease DUBs |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-622312 | Inflammasomes |
| reactome | R-HSA-622312 | Inflammasomes |
| reactome | R-HSA-844456 | The NLRP3 inflammasome |
| reactome | R-HSA-844456 | The NLRP3 inflammasome |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD883 | CIL55A | 4 |
| iGMDRD132 | (-)-gallocatechin-3-O-gallate | 6 |
| iGMDRD57 | Chloropentafluorobenzene | 2 |
| iGMDRD314 | Tanespimycin | 2 |
| iGMDRD85 | Ursolic acid | 2 |
| iGMDRD341 | Triacsin c | 7 |
| iGMDRD79 | Gemcitabine | 3 |
| iGMDRD424 | Tamatinib | 6 |
| iGMDRD532 | Olaparib | 2 |
| iGMDRD116 | CD437 | 3 |
| iGMDRD607 | Ubistatin B | 1 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD886 | Compound 1541A | 3 |
| iGMDRD662 | JQ-1 | 6 |
| iGMDRD329 | Merck60 | 2 |
| iGMDRD872 | BRD7137 | 2 |
| iGMDRD367 | Ro 28-1675 | 2 |
| iGMDRD77 | Itraconazole | 4 |
| iGMDRD221 | Tamoxifen | 1 |
| iGMDRD137 | Indisulam | 3 |
| iGMDRD271 | Brefeldin A | 2 |
| iGMDRD159 | 3-Chloro-L-alanine | 3 |
| iGMDRD679 | Bistramide A | 1 |
| iGMDRD394 | BX-795 | 5 |
| iGMDRD297 | Austocystin D | 1 |
| iGMDRD193 | Fqi1 | 1 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD201 | SKI II | 1 |
| iGMDRD446 | LY 2183240 | 1 |
| iGMDRD494 | Neopeltolide | 2 |
| iGMDRD546 | BMS-754807 | 8 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD772 | BRD4770 | 3 |
| iGMDRD579 | PF750 | 2 |
| iGMDRD229 | B02 | 1 |
| iGMDRD210 | AC55649 | 3 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD451 | Serdemetan | 3 |
| iGMDRD60 | Quinoclamine | 2 |
| iGMDRD64 | Parbendazole | 2 |
| iGMDRD506 | Fedratinib | 4 |
| iGMDRD577 | BIX01294 | 2 |
| iGMDRD74 | Idarubicin | 3 |
| iGMDRD782 | DC-45-A2 | 2 |
| iGMDRD207 | Capsaicin | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NLRP3
CLASSFICATION
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