• Gene id: 114548

Gene Summary

• Gene Symbol: NLRP3   Gene   UCSC   Ensembl
• Aliases: AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, DFNA34, FCAS, FCAS1, FCU, KEFH, MWS, NALP3, PYPAF1
• Gene name: NLR family pyrin domain containing 3
• Alternate names: NACHT, LRR and PYD domains-containing protein 3, NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3, NACHT, LRR and PYD containing protein 3, PYRIN-containing APAF1-like protein 1, caterpiller protein 1.1, cold autoinflammatory syndrome 1 protei,
• Gene location: 1q44 (247416162: 247448822)     Exons: 12     NC_000001.11
• Gene summary(Entrez): 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 r
• OMIM: 606416

Protein Summary

• Protein general information: Q96P20  
  • Name: NACHT, LRR and PYD domains containing protein 3 (Angiotensin/vasopressin receptor AII/AVP like) (Caterpiller protein 1.1) (CLR1.1) (Cold induced autoinflammatory syndrome 1 protein) (Cryopyrin) (PYRIN containing APAF1 like protein 1)
  • Length: 1036  
  • Mass: 118173
  • Tissue specificity: Predominantly expressed in macrophages. Also expressed in dendritic cells, B- and T-cells (at protein level) (PubMed
• Sequence:

  MKMASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIF
  AAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMKKDYRKKYRKYVRSRFQC
  IEDRNARLGESVSLNKRYTRLRLIKEHRSQQEREQELLAIGKTKTCESPVSPIKMELLFDPDDEHSEPVHTVVFQ
  GAAGIGKTILARKMMLDWASGTLYQDRFDYLFYIHCREVSLVTQRSLGDLIMSCCPDPNPPIHKIVRKPSRILFL
  MDGFDELQGAFDEHIGPLCTDWQKAERGDILLSSLIRKKLLPEASLLITTRPVALEKLQHLLDHPRHVEILGFSE
  AKRKEYFFKYFSDEAQARAAFSLIQENEVLFTMCFIPLVCWIVCTGLKQQMESGKSLAQTSKTTTAVYVFFLSSL
  LQPRGGSQEHGLCAHLWGLCSLAADGIWNQKILFEESDLRNHGLQKADVSAFLRMNLFQKEVDCEKFYSFIHMTF
  QEFFAAMYYLLEEEKEGRTNVPGSRLKLPSRDVTVLLENYGKFEKGYLIFVVRFLFGLVNQERTSYLEKKLSCKI
  SQQIRLELLKWIEVKAKAKKLQIQPSQLELFYCLYEMQEEDFVQRAMDYFPKIEINLSTRMDHMVSSFCIENCHR
  VESLSLGFLHNMPKEEEEEEKEGRHLDMVQCVLPSSSHAACSHGLVNSHLTSSFCRGLFSVLSTSQSLTELDLSD
  NSLGDPGMRVLCETLQHPGCNIRRLWLGRCGLSHECCFDISLVLSSNQKLVELDLSDNALGDFGIRLLCVGLKHL
  LCNLKKLWLVSCCLTSACCQDLASVLSTSHSLTRLYVGENALGDSGVAILCEKAKNPQCNLQKLGLVNSGLTSVC
  CSALSSVLSTNQNLTHLYLRGNTLGDKGIKLLCEGLLHPDCKLQVLELDNCNLTSHCCWDLSTLLTSSQSLRKLS
  LGNNDLGDLGVMMFCEVLKQQSCLLQNLGLSEMYFNYETKSALETLQEEKPELTVVFEPSW

• Structural information:
  • Protein Domains: (1..9-)
    (/note="Pyrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00061-)
    (220..53-)
    (/note="NACHT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00136"-)
  • Interpro: IPR004020  IPR011029  IPR001611  IPR032675  IPR029495   IPR007111  IPR041267  IPR041075  IPR027417  
  • Prosite: PS50824 PS50837
  • PDB: 2NAQ 3QF2 6NPY
  • PDBsum: 2NAQ 3QF2 6NPY
  • DIP: 41153
  • STRING: ENSP00000337383
• Other Databases: GeneCards:  NLRP3  Malacards:  NLRP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006952	defense response	TAS	biological process
GO:1901223	negative regulation of NIK/NF-kappaB signaling	IDA	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0009595	detection of biotic stimulus	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042834	peptidoglycan binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0050718	positive regulation of interleukin-1 beta secretion	IDA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:1901223	negative regulation of NIK/NF-kappaB signaling	IBA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IBA	biological process
GO:0000139	Golgi membrane	IDA	cellular component
GO:0071222	cellular response to lipopolysaccharide	IDA	biological process
GO:0072559	NLRP3 inflammasome complex	IDA	cellular component
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0045630	positive regulation of T-helper 2 cell differentiation	ISS	biological process
GO:0032753	positive regulation of interleukin-4 production	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0008134	transcription factor binding	ISS	molecular function
GO:2000553	positive regulation of T-helper 2 cell cytokine production	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0002830	positive regulation of type 2 immune response	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006954	inflammatory response	IMP	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0061702	inflammasome complex	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0032611	interleukin-1 beta production	IEA	biological process
GO:0032753	positive regulation of interleukin-4 production	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0044546	NLRP3 inflammasome complex assembly	IEA	biological process
GO:0045630	positive regulation of T-helper 2 cell differentiation	IEA	biological process
GO:0050701	interleukin-1 secretion	IEA	biological process
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0050830	defense response to Gram-positive bacterium	IEA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0072559	NLRP3 inflammasome complex	IEA	cellular component
GO:0002374	cytokine secretion involved in immune response	IEA	biological process
GO:0002830	positive regulation of type 2 immune response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0032621	interleukin-18 production	IEA	biological process
GO:0032736	positive regulation of interleukin-13 production	IEA	biological process
GO:0032754	positive regulation of interleukin-5 production	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IEA	biological process
GO:0071224	cellular response to peptidoglycan	IEA	biological process
GO:2000321	positive regulation of T-helper 17 cell differentiation	IEA	biological process
GO:2000553	positive regulation of T-helper 2 cell cytokine production	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0071222	cellular response to lipopolysaccharide	IMP	biological process
GO:0002674	negative regulation of acute inflammatory response	IMP	biological process
GO:0050713	negative regulation of interleukin-1 beta secretion	IMP	biological process
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0061702	inflammasome complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006954	inflammatory response	IMP	biological process
GO:0006915	apoptotic process	NAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IPI	biological process

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa04621	NOD-like receptor signaling pathway
hsa04217	Necroptosis
hsa05164	Influenza A
hsa05135	Yersinia infection
hsa04625	C-type lectin receptor signaling pathway
hsa05133	Pertussis

Diseases

Associated diseases	References
Familial cold autoinflammatory syndrome	KEGG:H02159
Cryopyrin associated periodic syndrome	KEGG:H00282
Anaphylaxis	KEGG:H01359
Familial cold autoinflammatory syndrome	KEGG:H02159
Cryopyrin associated periodic syndrome	KEGG:H00282
Anaphylaxis	KEGG:H01359
Urticaria	PMID:11687797
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq