NLRP3 - NLR family pyrin domain containing 3 Gene
Also Known as AII; AVP; FCU; MWS; FCAS; KEFH; CIAS1; FCAS1; NALP3; C1orf7; CLR1.1; DFNA34; PYPAF1; AGTAVPRL
Species: Homo sapiens
About NLRP3
This gene has 10 transcripts (splice variants), 87 orthologues, 20 paralogues and is associated with 11 phenotypes. Biased expression in bone marrow (RPKM 20.0), appendix (RPKM 6.0) and 9 other tissues.
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 NLRP3 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. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. 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, Aug 2020]
NLRP3 Products (20)
| mRNA | Protein | Name |
|---|---|---|
| XM_017000182.2 | XP_016855671.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X1 |
| XM_017000181.2 | XP_016855670.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X1 |
| NM_001127461.3 | NP_001120933.2 | NACHT, LRR and PYD domains-containing protein 3 isoform c |
| NM_001079821.3 | NP_001073289.2 | NACHT, LRR and PYD domains-containing protein 3 isoform e |
| XM_047443546.1 | XP_047299502.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X2 |
| XM_047443578.1 | XP_047299534.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X4 |
| XM_047443534.1 | XP_047299490.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X1 |
| XM_047443562.1 | XP_047299518.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X2 |
| XM_047443539.1 | XP_047299495.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X1 |
| XM_047443557.1 | XP_047299513.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X3 |
| XM_047443533.1 | XP_047299489.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X1 |
| NM_001243133.2 | NP_001230062.1 | NACHT, LRR and PYD domains-containing protein 3 isoform e |
| XM_047443571.1 | XP_047299527.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X5 |
| XM_024452862.2 | XP_024308630.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X4 |
| NM_183395.3 | NP_899632.2 | NACHT, LRR and PYD domains-containing protein 3 isoform b |
| XM_047443582.1 | XP_047299538.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X6 |
| XM_047443535.1 | XP_047299491.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X1 |
| NM_001127462.3 | NP_001120934.2 | NACHT, LRR and PYD domains-containing protein 3 isoform d |
| NM_004895.5 | NP_004886.3 | NACHT, LRR and PYD domains-containing protein 3 isoform a |
| XM_024452874.2 | XP_024308642.1 | NACHT, LRR and PYD domains-containing protein 3 isoform X6 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi membrane |
IDA
IDA: Inferred from direct assay
|
23229815 | GOA |
| part of NLRP3 inflammasome complex |
IDA
IDA: Inferred from direct assay
|
15030775 | GOA |
| part of NLRP3 inflammasome complex |
IPI
IPI: Inferred from physical interaction
|
29255148 | GOA |
| is active in cytoplasm |
IDA
IDA: Inferred from direct assay
|
34512673 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
17164409 | GOA |
| is active in cytosol |
IDA
IDA: Inferred from direct assay
|
11786556 | GOA |
| is active in membrane |
IDA
IDA: Inferred from direct assay
|
30487600 | GOA |
| located in microtubule organizing center |
IDA
IDA: Inferred from direct assay
|
28656979 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
23582325 | GOA |
NLRP3 Protein Structure
PYRIN: PAAD/DAPIN/Pyrin domain (7 - 89)
FISNA: Fish-specific NACHT associated domain (139 - 209)
NACHT: NACHT domain (220 - 389)
LRR_6: Leucine Rich repeat (741 - 762)
LRR_6: Leucine Rich repeat (797 - 819)
LRR_6: Leucine Rich repeat (911 - 934)
LRR_6: Leucine Rich repeat (969 - 991)
- 0
- 200
- 400
- 600
- 800
- 1036 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
NACHT, LRR and PYD domains-containing protein 3 |
|
|
NLRP3 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
NLRP3 | Q96P20 | NEK7 | Homo sapiens | Q8TDX7 | 26814970 | |
|
Intra
|
NLRP3 | Q96P20 | NEK7 | Homo sapiens | Q8TDX7 | 32814053 | |
|
Intra
|
NLRP3 | Q96P20 | NEK7 | Homo sapiens | Q8TDX7 | 32814053 | |
|
Intra
|
NLRP3 | Q96P20 | NEK7 | Homo sapiens | Q8TDX7 | 32814053 | |
|
Cross
|
NLRP3 | Q96P20 | Nek7 | Mus musculus | Q9ES74 | 26814970 | |
|
Cross
|
NLRP3 | Q96P20 | Nek7 | Mus musculus | Q9ES74 | 26814970 | |
|
Cross
|
NLRP3 | Q96P20 | N | SARS-CoV-2 | P0DTC9 | 34341353 | |
|
Cross
|
NLRP3 | Q96P20 | N | SARS-CoV-2 | P0DTC9 | 34341353 | |
|
Cross
|
NLRP3 | Q96P20 | N | SARS-CoV-2 | P0DTC9 | 34341353 | |
|
Cross
|
NLRP3 | Q96P20 | N | SARS-CoV-2 | P0DTC9 | 34341353 | |
|
Cross
|
NLRP3 | Q96P20 | ns8b_sars | Human SARS coronavirus | Q80H93 | 31231549 | |
|
Intra
|
NLRP3 | Q96P20 | PYCARD | Homo sapiens | Q9ULZ3 | 34341353 | |
|
Intra
|
NLRP3 | Q96P20 | PYCARD | Homo sapiens | Q9ULZ3 | 34341353 | |
|
Intra
|
NLRP3 | Q96P20 | PYCARD | Homo sapiens | Q9ULZ3 | 15020601 | |
|
Intra
|
NLRP3 | Q96P20 | PYCARD | Homo sapiens | Q9ULZ3 | 34341353 | |
|
Intra
|
NLRP3 | Q96P20 | PYCARD | Homo sapiens | Q9ULZ3 | 28229991 | |
|
Intra
|
NLRP3 | Q96P20 | PYCARD | Homo sapiens | Q9ULZ3 | 24630722 | |
|
Intra
|
NLRP3 | Q96P20 | MAVS | Homo sapiens | Q7Z434 | 23582325 |
NLRP3 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80246 | NLRP3 Antibody (YA266) | WB, IHC-P, ICC/IF, FC | Human, Mouse, Rat |
| HY-P80766A | NLRP3 Antibody(YA6868) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
| HY-P80766AA | NLRP3 Antibody(YA6868)(PBS only) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
| HY-P810728 | NLRP3 Antibody (YA9972) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
| HY-P86650 | NLRP3 Antibody (YA6342) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
|
| Hypertension, Essential |
|
|
| Familial Cold Autoinflammatory Syndrome 1 |
|
|
| Candidiasis |
|
|
| Aphthous Stomatitis |
|
|
| Pharyngitis |
|
|
| Non-Alcoholic Steatohepatitis |
|
|
| Urticaria |
|
|
| Pyoderma |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Cystic Fibrosis |
|
|
| Familial Cold Autoinflammatory Syndrome |
|
|
| Optic Papillitis |
|
|
| Extrinsic Cardiomyopathy |
|
|
| Anthracosis |
|
|
| Autosomal Genetic Disease |
|
|
| Interstitial Lung Disease 2 |
|
|
| Gout |
|
|
| Cinca Syndrome |
|
|
| Bone Inflammation Disease |
|
|
| Respiratory Failure |
|
|
| Primary Bacterial Infectious Disease |
|
|
| Corneal Disease |
|
|
| Familial Mediterranean Fever |
|
|
| Exanthem |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Stomatitis |
|
|
| Aicardi-Goutieres Syndrome |
|
|
| Hidradenitis Suppurativa |
|
|
| Peritonitis |
|
|
| Eye Disease |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Peroxisomal Disease |
|
|
| Hereditary Periodic Fever Syndrome |
|
|
| Serum Amyloid A Amyloidosis |
|
|
| Muckle-Wells Syndrome |
|
|
| Sensorineural Hearing Loss |
|
|
| Osteomyelitis |
|
|
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
|
| Aseptic Meningitis |
|
|
| Myocardial Infarction |
|
|
| Brain Edema |
|
|
| Lymph Node Disease |
|
|
| Covid-19 |
|
|
| Chronic Recurrent Multifocal Osteomyelitis |
|
|
| Mevalonic Aciduria |
|
|
| Nephrolithiasis |
|
|
| Conjunctival Disease |
|
|
| Skin Disease |
|
|
| Silicosis |
|
|
| Chronic Meningitis |
|
|
| Chondrocalcinosis |
|
|
| Osteoporosis |
|
|
| Conjunctivitis |
|
|
| Autoinflammatory Syndrome |
|
|
| Autoimmune Disease Of Cardiovascular System |
|
|
| Coronavirus Infectious Disease |
|
|
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a |
|
|
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
|
| Nervous System Disease |
|
|
| Acne |
|
|
| Familial Cold Autoinflammatory Syndrome 2 |
|
|
| Wells Syndrome |
|
|
| Vulvovaginal Candidiasis |
|
|
| Amyloidosis |
|
|
| Diabetes Mellitus |
|
|
| Diabetic Encephalopathy |
|
|
| Systemic Lupus Erythematosus |
|
|
| Hyperuricemia |
|
|
| Cryopyrin-Associated Periodic Syndrome |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Adult-Onset Still'S Disease |
|
|
| Papilledema |
|
|
| Juvenile Rheumatoid Arthritis |
|
|
| Mycobacterium Kansasii |
|
|
| Cervical Adenitis |
|
|
| Chronic Urticaria |
|
|
| Ureteral Disease |
|
|
| Asthma |
|
|
| Keratoendotheliitis Fugax Hereditaria |
|
|
| Schnitzler Syndrome |
|
|
| Periodic Fever, Familial, Autosomal Dominant |
|
|
| Hidradenitis |
|
|
| Salmonellosis |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Blau Syndrome |
|
|
| Pyoderma Gangrenosum |
|
|
| Sebaceous Gland Disease |
|
|
| Arthritis |
|
|
| Inflammatory Bowel Disease |
|
|
| Pericardium Disease |
|
|
| Acrokeratoderma, Hereditary Papulotranslucent |
|
|
| Malaria |
|
|
| Pericardial Effusion |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Polyradiculoneuropathy |
|
|
| Behcet Syndrome |
|
|
| Keratitis, Hereditary |
|
|
| Meningitis |
|
|
| Crohn'S Disease |
|
|
| Arthropathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | NLRP3 | VGNC | VGNC:63831 |
| Mus musculus | NLRP3 | MGD | MGI:2653833 |
| Canis familiaris | NLRP3 | VGNC | VGNC:43848 |
| Rattus norvegicus | NLRP3 | RGD | RGD:1308314 |
| Bos taurus | NLRP3 | VGNC | VGNC:32117 |
| Macaca mulatta | NLRP3 | VGNC | VGNC:75186 |
| Others | NLRP3 | NCBI |