URN | urn:agi-llid:9558 |
---|---|
Total Entities | 0 |
Connectivity | 4753 |
Name | NLRP3 |
Description | NLR family, pyrin domain containing 3 |
Notes | 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] |
ObjectType | Protein |
Pathway | NOD-like Receptors |
---|---|
Dectin-1 (CLEC7A) Signaling | |
Toll-like Receptor Independent Sterile Inflammation | |
Proteins Involved in Myocarditis | |
Inflammatory Reaction in Acne Vulgaris | |
Apoptotic Keratinocytes Clearance Recession in Systemic Lupus Erythematosus | |
Dendritic Cell Activation in Systemic Lupus Erythematosis | |
Plasmacytoid Dendritic Cell in Diabetes Mellitus Type 1 | |
Macrophage Function in Diabetes Mellitus Type 1 | |
Conventional Dendritic Cell Role in Diabetes Mellitus Type 1 | |
Proteins Involved in non-Alcoholic Fatty Liver Disease | |
Crohn's Disease | |
Macrophage Dysfunction | |
Dendritic Cell Function in Ulcerative Colitis | |
Epithelial Cell in the Innate Immune Response in Ulcerative Colitis | |
Antigen-Presenting Cell Role in Asthma | |
Proteins Involved in Gout | |
Monocytes Function in Gout | |
Dendritic Cell Dysfunction in Psoriatic Arthritis | |
Proteins Involved in Periodontitis | |
PAPA Syndrome | |
Blau Syndrome | |
Cryopyrin (NLPR3) Associated Periodic Syndromes | |
Familial Cold Autoinflammatory Syndrome 2 | |
Familial Mediterranean Fever | |
Majeed Syndrome | |
Proteins Involved in Age-Related Macular Degeneration | |
Immune System Role in Otitis Media | |
Alveolar Macrophages Dysfunction in COPD | |
Elevated Receptors -> Expression Targets in Mouth | |
Asbestosis- and Silicosis-Associated Inflammation Provokes Cancer Development | |
Proteins/Ions Transporters -> Expression Targets in Lymphoid System and Blood | |
P2RX7 -> Expression Targets in Nerve Tissue | |
e | |
pathway 4 | |
pprarg neg, uknown targets, ps-positive | |
Model of PPARG signaling in psoriasis | |
Model of PPARG related pathways in psoriasis (short version) | |
sars-cov binding | |
sars-cov no binding | |
Dendritic Cell Activation in COVID19 | |
Overview. Diseases of the digestive system (chapter 10) | |
1_Inflammation in keratinocytes in the pathology of acne | |
1_Insufficient activation of immune response in the middle ear epithelium cells in otitis media | |
3_Role of alveolar macrophages in pulmonary tissue destruction in COPD | |
1_Th2 cell response in asthma | |
2_Paneth cell dysfunction in Crohn's disease | |
1_Defects in response to pathogens in the gut promotes inflammation in Crohn's disease | |
2_Intestine epithelial cells drive immunological responses in ulcerative colitis | |
4_1_Polymorphisms associated with inflammatory bowel diseases | |
1_Antigen-presenting cells promote islet dysfunction and immune system activation in T1D | |
Figure 4_Diabetes mellitus Type 1: conventional dendritic cell | |
drug-target pairs direct regulation |
Group | Genes with Mutations Associated with Vitiligo |
---|---|
binding partnetrs for SARSs | |
other partners for SARS |
MedScan ID | 9558 |
---|
LocusLink ID | 9558 |
---|---|
114548 | |
216799 | |
287362 |
Alias | deafness, autosomal dominant 34 |
---|---|
OTTHUMP00000038410 | |
AII/AVPs | |
NACHT, LRR and PYD containing protein 3 | |
CLR1.1 | |
Familial cold autoinflammatory syndrome gene | |
FCAS1 | |
PYRIN-containing APAF1-like protein I | |
C1orf7 | |
Muckle-Wells syndrome protein | |
neuronal apoptosis inhibitor protein 3 | |
Muckle-Wells syndrome gene | |
chromosome 1 open reading frame VII | |
NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3 | |
RP23-210M6.4 | |
cold-induced autoinflammatory syndrome 1 protein | |
familial cold urticaria gene | |
KEFH | |
FLJ95925 | |
NALP3 | |
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 | |
Mmig1 | |
NACHT, LRR and PYD containing protein III | |
NLR family, pyrin domain containing 3 | |
AGTAVPRL | |
MWS | |
OTTMUSP00000005970 | |
cryopyrin, NACHT, LRR and PYD domains-containing protein 3 | |
PYPAF I | |
cryopyrin | |
OTTHUMP00000038408 | |
NACHT, LRR and PYD domains-containing protein 3 | |
mast cell maturation-associated-inducible protein 1 | |
mast cell maturation inducible protein 1 | |
NACHT domain leucine rich repeat and pyrin domain containing protein 3 | |
chromosome 1 open reading frame 7 | |
cold autoinflammatory syndrome 1 homolog | |
AII/AVP | |
cold induced autoinflammatory syndrome 1 protein | |
OTTHUMP00000038411 | |
cold-induced autoinflammatory syndrome-1 protein | |
DFNA34 | |
cold autoinflammatory syndrome 1 | |
OTTHUMP00000038409 | |
PYRIN-containing APAF1-like protein 1 | |
angiotensin/vasopressin receptor AII/AVP-like | |
caterpiller protein 1.1 | |
FCAS-1 | |
MGC129375 | |
PYPAF1 | |
aii/avp receptor-like | |
NLRP3 | |
cold autoinflammatory syndrome I | |
CIAS1 | |
neuronal apoptosis inhibitor protein III | |
NACHT/LRR/pyrin domain-containing protein 3 | |
Mmig I | |
CIAS I | |
AII | |
AVP | |
FCU | |
FCAS | |
cold autoinflammatory syndrome 1 protein | |
cryopyrin, NACHT, LRR and PYD domains - containing protein 3 | |
cold autoinflammatory syndrome 1 protein homolog |
GO ID | 0005524 |
---|---|
0042834 | |
0043565 | |
0008134 | |
0044546 | |
0006919 | |
0006915 | |
0071222 | |
0071224 | |
0002374 | |
0006952 | |
0050830 | |
0051607 | |
0009595 | |
0006954 | |
0045087 | |
0032611 | |
0050701 | |
0032621 | |
0032088 | |
1901223 | |
0002674 | |
0050728 | |
0050713 | |
0051092 | |
2000321 | |
2000553 | |
0045630 | |
0043280 | |
0050718 | |
0032736 | |
0032753 | |
0032754 | |
0045944 | |
0002830 | |
0051259 | |
0016579 | |
0007165 | |
0000139 | |
0072559 | |
0005737 | |
0005829 | |
0005783 | |
0005576 | |
0005634 | |
0000166 | |
0002376 | |
0050727 | |
0061702 | |
0005623 | |
0006917 | |
0035872 | |
0006351 | |
0006355 | |
0005515 | |
0042347 | |
0009617 |
KEGG ID | rno:287362 |
---|---|
hsa:114548 | |
mmu:216799 |
Organism | Homo sapiens {Organism urn:agi-taxid:9606} |
---|---|
Mus musculus {Organism urn:agi-taxid:10090} | |
Rattus norvegicus {Organism urn:agi-taxid:10116} | |
Homo sapiens | |
Mus musculus | |
Rattus norvegicus |
Mouse chromosome position | 11 |
---|
OMIM ID | 606416 |
---|---|
607115 | |
617772 | |
191900 | |
120100 | |
148200 |
Rat chromosome position | 10q22 |
---|
Hugo ID | 16400 |
---|---|
HGNC:16400 |
Human chromosome position | 1q44 |
---|
Swiss-Prot Accession | Q96P20 |
---|---|
Q96P20.3 | |
Q8R4B8 | |
Q8R4B8.1 | |
D4A523 | |
D4A523.2 | |
A0A024R5Q0 | |
B2RC97 | |
B7ZKS9 | |
B7ZKT2 | |
B7ZKT3 | |
O75434 | |
Q17RS2 | |
Q59H68 | |
Q5JQS8 | |
Q5JQS9 | |
Q6TG35 | |
Q8TCW0 | |
Q8TEU9 | |
Q8WXH9 | |
Q1JQ87 | |
Q1JQ88 | |
Q6JEL0 | |
T1W2H6 | |
Q65Z67 | |
Q5SXI6 |
Swiss-Prot ID | NLRP3_RAT |
---|---|
NLRP3_HUMAN | |
NLRP3_MOUSE | |
NALP3_HUMAN | |
NALP3_MOUSE | |
B2RC97_HUMAN | |
B7ZKT2_HUMAN | |
B7ZKT3_HUMAN |
Cell Localization | Cytoplasm |
---|---|
Cytosol | |
Inflammasome | |
Endoplasmic reticulum | |
Secreted | |
Nucleus | |
Golgi apparatus membrane | |
Cytoplasm, cytosol |
Ensembl ID | ENSG00000162711 |
---|---|
ENSP00000375704.3 | |
ENST00000391828.7 | |
ENSP00000355453.2 | |
ENST00000366497.6 | |
ENSP00000375703.2 | |
ENST00000391827.2 | |
ENSP00000337383.3 | |
ENST00000336119.7 | |
ENSP00000294752.3 | |
ENST00000348069.6 | |
ENSMUSG00000032691 | |
ENSMUSP00000098707.2 | |
ENSMUST00000101148.8 | |
ENSMUSP00000078440.3 | |
ENSMUST00000079476.9 | |
ENSRNOG00000003170 | |
ENSRNOP00000004280.3 | |
ENSRNOT00000004280.5 | |
ENSP00000375704 | |
ENSMUST00000079476 | |
ENSP00000375703 | |
ENST00000366497 | |
ENSMUSP00000098707 | |
ENSP00000355453 | |
ENST00000348069 | |
ENST00000336119 | |
ENST00000391828 | |
ENST00000391827 | |
ENSP00000337383 | |
ENSMUSP00000078440 | |
ENSRNOT00000004280 | |
ENSRNOP00000004280 | |
ENSP00000294752 | |
ENSMUST00000101148 |
MGI ID | MGI:2653833 |
---|---|
2653833 |
RGD ID | 1308314 |
---|
Unigene ID | Mm.54174 |
---|---|
Hs.159483 | |
Rn.214177 |
Homologene ID | 3600 |
---|
IPI ID | IPI00374129 |
---|---|
IPI00153873 | |
IPI00556137 | |
IPI00742837 | |
IPI00620897 | |
IPI00553033 | |
IPI00451585 | |
IPI00621784 | |
IPI00620168 | |
IPI00198971 | |
IPI00777914 | |
IPI00777199 |