NLRP3

NLRP3
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3QF2, 2NAQ
Identifiers
Aliases	NLRP3, AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, FCAS, FCAS1, FCU, MWS, NALP3, PYPAF1, NLR family, pyrin domain containing 3, NLR family pyrin domain containing 3, DFNA34, KEFH
External IDs	OMIM: 606416; MGI: 2653833; HomoloGene: 3600; GeneCards: NLRP3; OMA:NLRP3 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	247,449,108 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	59,457,782 bp
RNA expression pattern
	Top expressed in
	monocyte; ; granulocyte; ; blood; ; bone marrow cell; ; gallbladder; ; testicle; ; right lung; ; appendix; ; upper lobe of left lung; ; spleen;
	Top expressed in
	granulocyte; ; blood; ; stroma of bone marrow; ; morula; ; calvaria; ; spleen; ; submandibular gland; ; gastrula; ; olfactory epithelium; ; meninges;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	sequence-specific DNA binding; nucleotide binding; transcription factor binding; protein binding; peptidoglycan binding; ATP binding; identical protein binding;
Cellular component	cytoplasm; cytosol; extracellular region; endoplasmic reticulum; inflammasome complex; nucleus; NLRP3 inflammasome complex; Golgi membrane; Golgi apparatus; membrane;
Biological process	defense response; detection of biotic stimulus; NLRP3 inflammasome complex assembly; regulation of transcription, DNA-templated; negative regulation of acute inflammatory response; positive regulation of interleukin-5 production; interleukin-18 production; immune system process; positive regulation of interleukin-4 production; transcription, DNA-templated; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of interleukin-13 production; positive regulation of T-helper 17 cell differentiation; defense response to virus; protein complex oligomerization; positive regulation of T-helper 2 cell differentiation; regulation of inflammatory response; interleukin-1 beta production; positive regulation of type 2 immune response; inflammatory response; negative regulation of NF-kappaB transcription factor activity; activation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of inflammatory response; cellular response to lipopolysaccharide; positive regulation of T-helper 2 cell cytokine production; signal transduction; positive regulation of transcription by RNA polymerase II; apoptotic process; innate immune response; protein deubiquitination; defense response to Gram-positive bacterium; positive regulation of NF-kappaB transcription factor activity; cellular response to peptidoglycan; negative regulation of NIK/NF-kappaB signaling;
	Sources:Amigo / QuickGO
Orthologs
	114548
	216799
	ENSG00000162711
	ENSMUSG00000032691
	Q96P20
	Q8R4B8
NM_001079821; NM_001127461; NM_001127462; NM_001243133; NM_004895;
	NM_183395
	NM_145827; NM_001359638
NP_001073289; NP_001120933; NP_001120934; NP_001230062; NP_004886;
	NP_899632
	NP_665826; NP_001346567
	Wikidata
View/Edit Human	View/Edit Mouse

NLR family pyrin domain containing 3 (NLRP3) (previously known as NACHT, LRR, and PYD domains-containing protein 3 [NALP3] and cryopyrin), is a protein that in humans is encoded by the NLRP3 gene^[5] located on the long arm of chromosome 1.^[6]

NLRP3 is expressed predominantly in macrophages and as a component of the inflammasome,^[7]^[8]^: 436 detects products of damaged cells such as extracellular ATP and crystalline uric acid. Activated NLRP3 in turn triggers an immune response. Mutations in the NLRP3 gene are associated with a number of organ specific autoimmune diseases.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162711 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032691 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Anon. (2015). "Entrez Gene: NLRP3 NLR family, pyrin domain containing 3 [Homo sapiens (human)], Gene ID: 114548 (updated on 13-Nov-2015)". Bethesda, MD, USA: National Center for Biotechnology Information, National Library of Medicine. Retrieved 13 November 2015.
^ Hoffman HM, Wright FA, Broide DH, et al. (May 2000). "Identification of a locus on chromosome 1q44 for familial cold urticaria". American Journal of Human Genetics. 66 (5): 1693–8. doi:10.1086/302874. PMC 1378006. PMID 10741953.
^ Tao JH, Zhang Y, Li XP (Dec 2013). "P2X7R: a potential key regulator of acute gouty arthritis". review. Seminars in Arthritis and Rheumatism. 43 (3): 376–80. doi:10.1016/j.semarthrit.2013.04.007. PMID 23786870.
^ Lu A, Wu H (Feb 2015). "Structural mechanisms of inflammasome assembly". review. The FEBS Journal. 282 (3): 435–44. doi:10.1111/febs.13133. PMC 6400279. PMID 25354325.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000162711 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000032691 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez_NLRP3-5] Anon. (2015). "Entrez Gene: NLRP3 NLR family, pyrin domain containing 3 [Homo sapiens (human)], Gene ID: 114548 (updated on 13-Nov-2015)". Bethesda, MD, USA: National Center for Biotechnology Information, National Library of Medicine. Retrieved 13 November 2015.

[pmid10741953-6] Hoffman HM, Wright FA, Broide DH, et al. (May 2000). "Identification of a locus on chromosome 1q44 for familial cold urticaria". American Journal of Human Genetics. 66 (5): 1693–8. doi:10.1086/302874. PMC 1378006. PMID 10741953.

[7] Tao JH, Zhang Y, Li XP (Dec 2013). "P2X7R: a potential key regulator of acute gouty arthritis". review. Seminars in Arthritis and Rheumatism. 43 (3): 376–80. doi:10.1016/j.semarthrit.2013.04.007. PMID 23786870.

[LuWu2015-8] Lu A, Wu H (Feb 2015). "Structural mechanisms of inflammasome assembly". review. The FEBS Journal. 282 (3): 435–44. doi:10.1111/febs.13133. PMC 6400279. PMID 25354325.

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