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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]
[中文简述(自动翻译):]  该基因编码含有pyrin域,核苷酸结合位点(NBS)结构域和富含亮氨酸重复序列(LRR)基序的pyrin样蛋白。这种蛋白质与细胞凋亡相关斑点样蛋白PYCARD / ASC,其中包含胱天蛋白酶募集结构域相互作用,并且是NALP3炎性复杂的成员。这种复杂的功能,NF-κB的信号的上游活化剂,和它在炎症的调节,免疫反应和凋亡的作用。在这个基因的突变与家族性寒冷自身炎症综合征(FCAS),穆 - 韦综合征(MWS),慢性婴儿神经性皮肤及关节(CINCA)综合征和新生儿发病多系统炎性疾病(NOMID)有关。编码不同同种型的多个可变剪接转录物变体已被确定为这个基因。替代品5‘UTR结构由现有数据表明,然而,证据不足可用以确定是否所有的代表5‘端非编码区剪接模式是生物学有效。 [由RefSeq的,2008年10月提供]
NLRP3基因(以及对应的蛋白质)的细胞分布位置:
NLRP3基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Muckle-Wells Syndrome | 0.567057489 | 28 | 8 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| Familial cold urticaria | 0.566786047 | 27 | 11 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| Chronic Infantile Neurological, Cutaneous, and Articular Syndrome | 0.450043349 | 39 | 6 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
| Crohn Disease | 0.140812605 | 14 | 2 | BeFree_CTD_human_GAD_LHGDN |
| Cryopyrin-Associated Periodic Syndromes | 0.132757768 | 49 | 4 | BeFree_CTD_human |
| Inflammation | 0.12272435 | 3 | 0 | CTD_human_LHGDN |
| anaphylaxis | 0.122367032 | 1 | 0 | CTD_human_GAD |
| Drug Allergy | 0.122367032 | 1 | 0 | CTD_human_GAD |
| Food Allergy | 0.122367032 | 1 | 0 | CTD_human_GAD |
| Fibrinogen Adverse Event | 0.122367032 | 2 | 2 | GAD_GWASCAT |
| IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
| Rheumatoid Arthritis | 0.010444275 | 11 | 2 | BeFree_GAD_LHGDN |
| Urticaria | 0.00680591 | 7 | 0 | BeFree_LHGDN |
| Familial Mediterranean Fever | 0.006634157 | 9 | 0 | BeFree_GAD |
| Central Diabetes Insipidus | 0.005352893 | 12 | 0 | BeFree_GAD |
| Inflammatory Bowel Diseases | 0.004267125 | 8 | 0 | BeFree_GAD |
| Hypertensive disease | 0.003995683 | 6 | 0 | BeFree_GAD |
| Hereditary Autoinflammatory Diseases | 0.003724241 | 6 | 0 | BeFree_GAD |
| Degenerative polyarthritis | 0.003538676 | 4 | 0 | BeFree_LHGDN |
| Amyloidosis | 0.003452799 | 5 | 0 | BeFree_GAD |
| HIV Infections | 0.003452799 | 4 | 0 | BeFree_GAD |
| Juvenile arthritis | 0.003452799 | 4 | 2 | BeFree_GAD |
| MARDEN-WALKER SYNDROME | 0.003257302 | 12 | 1 | BeFree |
| Behcet Syndrome | 0.003181358 | 4 | 0 | BeFree_GAD |
| Celiac Disease | 0.003181358 | 3 | 1 | BeFree_GAD |
| Diabetes Mellitus, Insulin-Dependent | 0.003181358 | 3 | 0 | BeFree_GAD |
| Arthritis | 0.002909916 | 3 | 0 | BeFree_GAD |
| Dermatitis, Atopic | 0.002909916 | 2 | 0 | BeFree_GAD |
| Hyperimmunoglobulinemia D | 0.002909916 | 3 | 0 | BeFree_GAD |
| Huntington Disease | 0.00272435 | 1 | 0 | LHGDN |
| Infection | 0.00272435 | 1 | 0 | LHGDN |
| Arteriosclerosis | 0.002714419 | 10 | 0 | BeFree |
| Atherosclerosis | 0.002714419 | 10 | 0 | BeFree |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.002714419 | 10 | 0 | BeFree |
| Chlamydia Infections | 0.002638474 | 2 | 0 | BeFree_GAD |
| Vulvar Vestibulitis | 0.002638474 | 1 | 0 | BeFree_GAD |
| Candidiasis, Vulvovaginal | 0.002638474 | 1 | 0 | BeFree_GAD |
| Arthritis, Psoriatic | 0.002367032 | 1 | 0 | GAD |
| Fallopian Tube Diseases | 0.002367032 | 1 | 0 | GAD |
| Lymphadenitis | 0.002367032 | 1 | 0 | GAD |
| Pharyngitis | 0.002367032 | 1 | 0 | GAD |
| Aphthous Stomatitis | 0.002367032 | 1 | 0 | GAD |
| Hematologic Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Dermatitis and eczema | 0.002367032 | 1 | 0 | GAD |
| Inflammatory disorder | 0.001900093 | 7 | 1 | BeFree |
| Pituitary Diseases | 0.001628651 | 6 | 0 | BeFree |
| Mycoses | 0.001357209 | 5 | 0 | BeFree |
| Coronary Arteriosclerosis | 0.001085767 | 4 | 1 | BeFree |
| Coronary heart disease | 0.001085767 | 4 | 1 | BeFree |
| Periodic fever | 0.001085767 | 4 | 1 | BeFree |
| Kidney Diseases | 0.001085767 | 4 | 0 | BeFree |
| Lupus Erythematosus, Systemic | 0.001085767 | 4 | 0 | BeFree |
| Obesity | 0.001085767 | 4 | 0 | BeFree |
| Juvenile rheumatoid arthritis | 0.001085767 | 4 | 2 | BeFree |
| Colitis | 0.000814326 | 3 | 0 | BeFree |
| Ulcerative Colitis | 0.000814326 | 3 | 0 | BeFree |
| Diabetes | 0.000814326 | 3 | 0 | BeFree |
| Diabetes Insipidus | 0.000814326 | 3 | 0 | BeFree |
| Diabetes Mellitus | 0.000814326 | 3 | 0 | BeFree |
| Metabolic Diseases | 0.000814326 | 3 | 0 | BeFree |
| Septicemia | 0.000814326 | 3 | 0 | BeFree |
| Tuberculosis | 0.000814326 | 3 | 0 | BeFree |
| Virus Diseases | 0.000814326 | 3 | 0 | BeFree |
| Essential Hypertension | 0.000814326 | 3 | 0 | BeFree |
| Age related macular degeneration | 0.000814326 | 3 | 0 | BeFree |
| Sepsis | 0.000814326 | 3 | 0 | BeFree |
| Chronic Kidney Diseases | 0.000814326 | 3 | 0 | BeFree |
| Coronary Artery Disease | 0.000814326 | 3 | 1 | BeFree |
| Anxiety Disorders | 0.000542884 | 2 | 0 | BeFree |
| Aortic Aneurysm | 0.000542884 | 2 | 0 | BeFree |
| Arthralgia | 0.000542884 | 2 | 0 | BeFree |
| Arthritis, Gouty | 0.000542884 | 2 | 0 | BeFree |
| Autoimmune Diseases | 0.000542884 | 2 | 0 | BeFree |
| Bacterial Infections | 0.000542884 | 2 | 0 | BeFree |
| Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Dehydration | 0.000542884 | 2 | 0 | BeFree |
| Eczema | 0.000542884 | 2 | 0 | BeFree |
| Gingival Diseases | 0.000542884 | 2 | 0 | BeFree |
| Immune System Diseases | 0.000542884 | 2 | 0 | BeFree |
| Influenza | 0.000542884 | 2 | 0 | BeFree |
| Malaria | 0.000542884 | 2 | 0 | BeFree |
| melanoma | 0.000542884 | 2 | 0 | BeFree |
| Meningitis, Pneumococcal | 0.000542884 | 2 | 0 | BeFree |
| Multiple Sclerosis | 0.000542884 | 2 | 0 | BeFree |
| Myocardial Infarction | 0.000542884 | 2 | 0 | BeFree |
| Neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
| Periodontal Diseases | 0.000542884 | 2 | 0 | BeFree |
| Pneumonia | 0.000542884 | 2 | 0 | BeFree |
| Psoriasis | 0.000542884 | 2 | 0 | BeFree |
| Ureteral obstruction | 0.000542884 | 2 | 0 | BeFree |
| Polydipsia | 0.000542884 | 2 | 0 | BeFree |
| Reactive systemic amyloidosis | 0.000542884 | 2 | 0 | BeFree |
| Fibrosis, Liver | 0.000542884 | 2 | 0 | BeFree |
| Systemic amyloidosis | 0.000542884 | 2 | 0 | BeFree |
| Amyloid nephropathy | 0.000542884 | 2 | 5 | BeFree |
| Infection by Candida albicans | 0.000542884 | 2 | 0 | BeFree |
| Primary Systemic Amyloidosis | 0.000542884 | 2 | 0 | BeFree |
| Deficiency of mevalonate kinase | 0.000542884 | 2 | 0 | BeFree |
| Non-alcoholic Fatty Liver Disease | 0.000542884 | 2 | 0 | BeFree |
| Chronic Kidney Insufficiency | 0.000542884 | 2 | 0 | BeFree |
| Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
| Congenital Nephrogenic Diabetes Insipidus | 0.000542884 | 2 | 0 | BeFree |
| Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
| Infectious disease of lung | 0.000542884 | 2 | 0 | BeFree |
| Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
| Geographic Atrophy | 0.000542884 | 2 | 0 | BeFree |
| AA amyloidosis | 0.000542884 | 2 | 0 | BeFree |
| Adenoma | 0.000271442 | 1 | 0 | BeFree |
| Adrenal Rest Tumor | 0.000271442 | 1 | 0 | BeFree |
| Anthracosis | 0.000271442 | 1 | 1 | BeFree |
| Asthma | 0.000271442 | 1 | 0 | BeFree |
| Bloom Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Brucellosis | 0.000271442 | 1 | 0 | BeFree |
| Burkitt Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of skin | 0.000271442 | 1 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| CNS disorder | 0.000271442 | 1 | 0 | BeFree |
| Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Dermatitis | 0.000271442 | 1 | 0 | BeFree |
| Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
| Dry Eye Syndromes | 0.000271442 | 1 | 0 | BeFree |
| Encephalitis | 0.000271442 | 1 | 0 | BeFree |
| Japanese Encephalitis | 0.000271442 | 1 | 0 | BeFree |
| Experimental Autoimmune Encephalomyelitis | 0.000271442 | 1 | 0 | BeFree |
| Exanthema | 0.000271442 | 1 | 0 | BeFree |
| Fatty Liver | 0.000271442 | 1 | 0 | BeFree |
| Gingivitis | 0.000271442 | 1 | 0 | BeFree |
| Heart Diseases | 0.000271442 | 1 | 0 | BeFree |
| Severe Dengue | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis C | 0.000271442 | 1 | 0 | BeFree |
| Hepatomegaly | 0.000271442 | 1 | 0 | BeFree |
| Herpes Simplex Infections | 0.000271442 | 1 | 0 | BeFree |
| Hyperglycemia | 0.000271442 | 1 | 0 | BeFree |
| Ischemia | 0.000271442 | 1 | 0 | BeFree |
| Kidney Failure, Acute | 0.000271442 | 1 | 0 | BeFree |
| Lichen Planus | 0.000271442 | 1 | 0 | BeFree |
| Lung diseases | 0.000271442 | 1 | 2 | BeFree |
| Lupus Vulgaris | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus, Discoid | 0.000271442 | 1 | 0 | BeFree |
| Lupus Nephritis | 0.000271442 | 1 | 0 | BeFree |
| Melioidosis | 0.000271442 | 1 | 0 | BeFree |
| Aseptic Meningitis | 0.000271442 | 1 | 0 | BeFree |
| Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
| Mesothelioma | 0.000271442 | 1 | 0 | BeFree |
| Mixed Salivary Gland Tumor | 0.000271442 | 1 | 0 | BeFree |
| Myxoma | 0.000271442 | 1 | 0 | BeFree |
| Nasal Polyps | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| Peritonitis | 0.000271442 | 1 | 0 | BeFree |
| Lobar Pneumonia | 0.000271442 | 1 | 0 | BeFree |
| Adenomatous Polyposis Coli | 0.000271442 | 1 | 0 | BeFree |
| Polyuria | 0.000271442 | 1 | 0 | BeFree |
| Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Relapsing Fever | 0.000271442 | 1 | 0 | BeFree |
| Respiratory Syncytial Virus Infections | 0.000271442 | 1 | 0 | BeFree |
| Rift Valley Fever | 0.000271442 | 1 | 0 | BeFree |
| Rosacea | 0.000271442 | 1 | 0 | BeFree |
| Systemic Scleroderma | 0.000271442 | 1 | 0 | BeFree |
| Silicosis | 0.000271442 | 1 | 0 | BeFree |
| Ankylosing spondylitis | 0.000271442 | 1 | 0 | BeFree |
| Superinfection | 0.000271442 | 1 | 0 | BeFree |
| Chagas Disease | 0.000271442 | 1 | 0 | BeFree |
| Photophobia | 0.000271442 | 1 | 0 | BeFree |
| Primary gout | 0.000271442 | 1 | 0 | BeFree |
| Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Active tuberculosis | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Hearing Loss, Mixed Conductive-Sensorineural | 0.000271442 | 1 | 0 | BeFree |
| Streptococcal pneumonia | 0.000271442 | 1 | 0 | BeFree |
| Aortic Aneurysm, Abdominal | 0.000271442 | 1 | 0 | BeFree |
| Hepatoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Adrenocortical carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Myalgia | 0.000271442 | 1 | 0 | BeFree |
| Neurologic Symptoms | 0.000271442 | 1 | 0 | BeFree |
| Interstitial fibrosis | 0.000271442 | 1 | 2 | BeFree |
| Chronic Periodontitis | 0.000271442 | 1 | 0 | BeFree |
| Asymptomatic Infections | 0.000271442 | 1 | 0 | BeFree |
| Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Very Low Birth Weight | 0.000271442 | 1 | 0 | BeFree |
| Dryness of eye | 0.000271442 | 1 | 0 | BeFree |
| Ventricular hypertrophy | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus | 0.000271442 | 1 | 0 | BeFree |
| Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Metabolic Syndrome X | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis C, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Primary sclerosing cholangitis | 0.000271442 | 1 | 0 | BeFree |
| Periodic syndrome | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Hyperuricemia | 0.000271442 | 1 | 0 | BeFree |
| Multiple Sclerosis, Relapsing-Remitting | 0.000271442 | 1 | 0 | BeFree |
| Acute GVH disease | 0.000271442 | 1 | 0 | BeFree |
| Hyponatraemic | 0.000271442 | 1 | 2 | BeFree |
| Arthritis, Collagen-Induced | 0.000271442 | 1 | 0 | BeFree |
| West Nile viral infection | 0.000271442 | 1 | 0 | BeFree |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 0.000271442 | 1 | 0 | BeFree |
| Chronic inflammatory disorder | 0.000271442 | 1 | 0 | BeFree |
| Staphylococcus aureus infection | 0.000271442 | 1 | 0 | BeFree |
| Mixed Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Conn Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Cardiomyopathy, Familial Idiopathic | 0.000271442 | 1 | 0 | BeFree |
| Human T-cell lymphotropic virus 1 infection | 0.000271442 | 1 | 1 | BeFree |
| Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Mucosal infection | 0.000271442 | 1 | 0 | BeFree |
| Aggressive periodontitis, generalized | 0.000271442 | 1 | 0 | BeFree |
| Idiopathic Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Nephrogenic Syndrome of Inappropriate Antidiuresis | 0.000271442 | 1 | 0 | BeFree |
| Acth-Independent Macronodular Adrenal Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
| Pyogenic Arthritis, Pyoderma Gangrenosum and Acne | 0.000271442 | 1 | 0 | BeFree |
| SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) | 0.000271442 | 1 | 0 | BeFree |
| PHOTOPAROXYSMAL RESPONSE 1 | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Allergic rhinitis (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
| Protein Misfolding Disorders | 0.000271442 | 1 | 0 | BeFree |
| Nonalcoholic Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
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