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
364120042024Knockdown of DAPK1 inhibits IL-1β-induced inflammation and cartilage degradation in human chondrocytes by modulating the PEDF-mediated NF-κB and NLRP3 inflammasome pathway.1
370578222024Decreased survival in patients with pancreatic cancer may be associated with an increase in histopathological expression of inflammasome marker NLRP3.6
374817152024Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis.0
376655592024MICA and NLRP3 gene polymorphisms interact synergistically affecting the risk of ankylosing spondylitis.1
377381642024Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti-Interleukin-1 Therapy.1
377480212024NLRP3 Inhibition Leads to Impaired Mucosal Fibroblast Function in Patients with Inflammatory Bowel Diseases.1
378157482024NLRP3 Inflammasome-dependent Pathway is Involved in the Pathogenesis of Polycystic Ovary Syndrome.0
378716732024NLRP3 inflammatory pathway. Can we unlock depression?1
379238292024The role of the NLRP3 inflammasome and pyroptosis in cardiovascular diseases.12
379480332024Human Umbilical Cord Mesenchymal Stem Cells Repair Endothelial Injury and Dysfunction by Regulating NLRP3 to Inhibit Endothelial Cell Pyroptosis in Kawasaki Disease.1
380434342024NLRP3 inflammasome pathway, the hidden balance in pregnancy: A comprehensive review.0
381460572024The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.1
381728222024Inter-relationships of galectin-3 and NLR family pyrin domain containing 3 inflammasomes with oral lichen planus: a preliminary cross-sectional in vitro study.0
382165602024Cortical microinfarcts potentiate recurrent ischemic injury through NLRP3-dependent trained immunity.0
382187652024Increased expression of NLRP3 associated with elevated levels of HMGB1 in children with febrile seizures: a case-control study.0

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