NLRP3 (NLR family pyrin domain containing 3)

2006-10-01  

Identity

HGNC
NLRP3
LOCATION
1q44
LOCUSID
114548
ALIAS
AGTAVPRL,AII,AVP,C1orf7,CIAS1,CLR1.1,DFNA34,FCAS,FCAS1,FCU,KEFH,MWS,NALP3,PYPAF1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 114548
MIM: 606416
HGNC: 16400
Ensembl: ENSG00000162711

Variants:

dbSNP: 114548
ClinVar: 114548
TCGA: ENSG00000162711
COSMIC: NLRP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162711ENST00000336119Q96P20
ENSG00000162711ENST00000348069Q96P20
ENSG00000162711ENST00000366496Q96P20
ENSG00000162711ENST00000366497Q96P20
ENSG00000162711ENST00000391827Q96P20
ENSG00000162711ENST00000391828Q96P20
ENSG00000162711ENST00000474792Q96P20
ENSG00000162711ENST00000642259A0A2R8YEG7
ENSG00000162711ENST00000643234Q96P20

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
Influenza AKEGGko05164
Influenza AKEGGhsa05164
PertussisKEGGko05133
PertussisKEGGhsa05133
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathwaysREACTOMER-HSA-168643
InflammasomesREACTOMER-HSA-622312
The NLRP3 inflammasomeREACTOMER-HSA-844456
DeubiquitinationREACTOMER-HSA-5688426
Metalloprotease DUBsREACTOMER-HSA-5689901

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
211243152011A role for mitochondria in NLRP3 inflammasome activation.1323
212176952011The NLRP3 inflammasome instigates obesity-induced inflammation and insulin resistance.679
195708222009Cutting edge: NF-kappaB activating pattern recognition and cytokine receptors license NLRP3 inflammasome activation by regulating NLRP3 expression.636
232549302013NLRP3 is activated in Alzheimer's disease and contributes to pathology in APP/PS1 mice.523
150307752004NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder.482
175990942007Activation of the NALP3 inflammasome is triggered by low intracellular potassium concentration.454
276696502016Mechanism and Regulation of NLRP3 Inflammasome Activation.330
198056292009Glyburide inhibits the Cryopyrin/Nalp3 inflammasome.251
206687052010Cholesterol crystals activate the NLRP3 inflammasome in human macrophages: a novel link between cholesterol metabolism and inflammation.227
239541332013Mitochondrial cardiolipin is required for Nlrp3 inflammasome activation.219

Citation

Dessen P

NLRP3 (NLR family pyrin domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43213/nlrp3-(nlr-family-pyrin-domain-containing-3)