Nlrp3 Gene Detail

Summary

• Symbol
  Nlrp3
• Name
  NLR family, pyrin domain containing 3
• Synonyms
  Cias1, cryopyrin, Mmig1, NALP3, Pypaf1

• Feature Type
  protein coding gene
• IDs
  MGI:2653833
  NCBI Gene: 216799
• Alliance
  gene page
• Transcription Start Sites
  57 TSS

Location &
Maps

• Sequence Map
  Chr11:59432395-59457781 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 11, 37.73 cM, cytoband B1.3
• Mapping Data
  3 experiments

Strain
Comparison

• SNPs within 2kb
  999 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2653833	protein coding gene	Chr11:59432394-59457782 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018401	protein coding gene	Chr11:59384092-59411904 (+)
A/J	MGP_AJ_G0018370	protein coding gene	Chr11:57111855-57137396 (+)
AKR/J	MGP_AKRJ_G0018340	protein coding gene	Chr11:59027194-59054812 (+)
BALB/cJ	MGP_BALBcJ_G0018341	protein coding gene	Chr11:57464070-57490284 (+)
C3H/HeJ	MGP_C3HHeJ_G0018154	protein coding gene	Chr11:58889287-58917405 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018793	protein coding gene	Chr11:61262215-61293867 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016439	protein coding gene	Chr11:54357197-54382334 (+)
CAST/EiJ	MGP_CASTEiJ_G0017711	protein coding gene	Chr11:59027303-59062013 (+)
CBA/J	MGP_CBAJ_G0018128	protein coding gene	Chr11:63941167-63973636 (+)
DBA/2J	MGP_DBA2J_G0018237	protein coding gene	Chr11:56781915-56808163 (+)
FVB/NJ	MGP_FVBNJ_G0018228	protein coding gene	Chr11:56434530-56459888 (+)
LP/J	MGP_LPJ_G0018310	protein coding gene	Chr11:59984113-60011021 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018252	protein coding gene	Chr11:65055320-65081278 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018834	protein coding gene	Chr11:59051988-59076945 (+)
PWK/PhJ	MGP_PWKPhJ_G0017482	protein coding gene	Chr11:57369082-57406939 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017274	protein coding gene	Chr11:58840466-58868598 (+)
WSB/EiJ	MGP_WSBEiJ_G0017762	protein coding gene	Chr11:58729834-58759850 (+)

Homology

• Human Ortholog
  NLRP3, NLR family pyrin domain containing 3

• Vertebrate Orthologs
  93

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  NLRP3, NLR family pyrin domain containing 3
  
• Synonyms
  AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, DFNA34, FCAS, FCAS1, FCU, KEFH, MWS, NALP3, PYPAF1
• Links
  HGNC:16400

  NCBI Gene ID: 114548

  neXtProt AC: NX_Q96P20

  UniProt: Q96P20

  
  
• Chr Location
  1q44; chr1:247332331-247449108 (+)  GRCh38

---

• MGI Vertebrate Homology
  Nlrp3 stringent orthology
  1 human;1 mouse;1 rat;91 zebrafish
  
• HCOP
  vertebrate homology predictions: NLRP3
• Gene Tree
  Nlrp3
  

Human Diseases

• Diseases
  3 with Nlrp3 mouse models; 5 with human NLRP3 associations

Human Disease

Mouse Models

CINCA Syndrome

IDs

CINCA Syndrome      

DOID:0090029
ICD10CM:E85.0
OMIM:607115
ORDO:1451

View 1 model

Mouse Models

Human Disease Modeled: CINCA Syndrome

Allelic Composition	Genetic Background	Reference	Phenotypes
Nlrp3tm3.1Hhf/Nlrp3+	involves: 129	J:202147	View

familial cold autoinflammatory syndrome 1

IDs

familial cold autoinflammatory syndrome 1      

DOID:0090062
ICD10CM:L50.2
OMIM:120100
ORDO:47045

View 2 models

Mouse Models

Human Disease Modeled: familial cold autoinflammatory syndrome 1

Allelic Composition	Genetic Background	Reference	Phenotypes
Nlrp3tm2Hhf/Nlrp3+ Lyz2tm1(cre)Ifo/Lyz2+	involves: 129/Sv * 129P2/OlaHsd * C57BL/6	J:150054	View
Nlrp3tm2Hhf/Nlrp3+ Tg(CAG-cre/Esr1*)5Amc/?	involves: 129/Sv * C57BL/6 * CBA	J:150054	View

metabolic dysfunction-associated steatotic liver disease

IDs

metabolic dysfunction-associated steatotic liver disease      

DOID:0080208
MESH:D065626
OMIM:613282
OMIM:613387

View 1 model

Mouse Models

Human Disease Modeled: metabolic dysfunction-associated steatotic liver disease

Allelic Composition	Genetic Background	Reference	Phenotypes
Nlrp3tm1Bhk/Nlrp3tm1Bhk	B6.129S6-Nlrp3^tm1Bhk/J	J:256504	View

autosomal dominant nonsyndromic deafness 34

IDs

autosomal dominant nonsyndromic deafness 34      

DOID:0080270
OMIM:617772

Muckle-Wells syndrome

IDs

Muckle-Wells syndrome      

DOID:0050854
ICD10CM:M04.2
MESH:D056587
NCI:C119054
OMIM:191900
ORDO:575
UMLS_CUI:C0268390

urticaria

IDs

urticaria      

DOID:1555
ICD9CM:708.8
UMLS_CUI:C0029839

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  3 with disease annotations

• References
  3 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  104 phenotypes from 21 alleles in 27 genetic backgrounds
  18 phenotypes from multigenic genotypes
  6 images
  710 phenotype references
  

• All Mutations and Alleles
  44
• Chemically induced (ENU)
  12
• Chemically induced (other)
  1
• Endonuclease-mediated
  16
• Targeted
  15
• Genomic Mutations
  1 involving Nlrp3
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  64 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Mice homozygous for null mutations exhibit attenuated inflammatory responses related to decrease secretion of IL-1beta and IL-18. Mice heterozygous for activating mutations suffer from autoinflammatory attacks that lead to organ failure and death before weaning.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  117
• GO References
  42

Expression

• Assay Results
  755
• Tissues
  32
• cDNA Data
  8
• Literature Summary
  4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase nlrp3
  ZFIN nlrp3

Sequences &
Gene Models

• All Sequences
  51
• RefSeq
  12
• UniProt
  2
• CCDS
  CCDS24771.1

• Ensembl
  ENSMUSG00000032691 (Evidence)
• NCBI Gene
  216799

Representative Sequences			Length	Strain/Species
genomic	216799	NCBI Gene Model | MGI Sequence Detail	25387	C57BL/6J
transcript	NM_145827	RefSeq | MGI Sequence Detail	4033	C57BL/6
polypeptide	Q8R4B8	UniProt | EBI | MGI Sequence Detail	1033	Not Applicable

Protein
Information

• UniProt
  2 Sequences
• Protein Ontology
  PR:000011271 NACHT, LRR and PYD domains-containing protein 3
  (term hierarchy)
• PDB
  7LFH, 7VTQ
• EC
  3.6.4.-
• InterPro Domains
  IPR004020 DAPIN domain
  IPR011029 Death-like domain superfamily
  IPR001611 Leucine-rich repeat
  IPR032675 Leucine-rich repeat domain superfamily
  IPR029495 NACHT-associated domain
  IPR041267 NACHT, LRR and PYD domains-containing protein, helical domain HD2
  IPR007111 NACHT nucleoside triphosphatase
  IPR050637 NLRP family, innate immunity and inflammation regulators
  IPR041075 NOD2, winged helix domain
  IPR027417 P-loop containing nucleoside triphosphate hydrolase

Molecular
Reagents

• All nucleic 9

  cDNA 8

  Primer pair 1

  
  

  Microarray probesets 3

References

• Summaries
  All 1051

  Developmental Gene Expression 4

  Diseases 3

  Gene Ontology 42

  Phenotypes 710
• Earliest
  J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
• Latest
  J:357488 Kui L, et al., BRP39 Regulates Neutrophil Recruitment in NLRP3 Inflammasome-Induced Liver Inflammation. Cell Mol Gastroenterol Hepatol. 2024;17(3):481-497

TSS for Nlrp3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr101799	Chr11:59432404-59432417 (+)	16 bp
Tssr101800	Chr11:59432427-59432441 (+)	39 bp
Tssr101801	Chr11:59432480-59432492 (+)	91 bp
Tssr101802	Chr11:59433453-59433470 (+)	1,067 bp
Tssr101803	Chr11:59433492-59433503 (+)	1,103 bp
Tssr101804	Chr11:59433527-59433552 (+)	1,145 bp
Tssr101805	Chr11:59433556-59433573 (+)	1,170 bp
Tssr101806	Chr11:59433574-59433601 (+)	1,193 bp
Tssr101807	Chr11:59433625-59433636 (+)	1,236 bp
Tssr101808	Chr11:59433707-59433718 (+)	1,318 bp
Tssr101809	Chr11:59433787-59433793 (+)	1,395 bp
Tssr101810	Chr11:59433809-59433827 (+)	1,423 bp
Tssr101811	Chr11:59433840-59433857 (+)	1,454 bp
Tssr101812	Chr11:59433858-59433865 (+)	1,467 bp
Tssr101813	Chr11:59433866-59433884 (+)	1,480 bp
Tssr101814	Chr11:59433888-59433897 (+)	1,498 bp
Tssr101815	Chr11:59434181-59434190 (+)	1,791 bp
Tssr101816	Chr11:59434398-59434433 (+)	2,021 bp
Tssr101817	Chr11:59439335-59439349 (+)	6,947 bp
Tssr101818	Chr11:59439391-59439401 (+)	7,001 bp
Tssr101819	Chr11:59439462-59439473 (+)	7,073 bp
Tssr101820	Chr11:59439475-59439512 (+)	7,099 bp
Tssr101821	Chr11:59439774-59439793 (+)	7,389 bp
Tssr101822	Chr11:59440035-59440044 (+)	7,645 bp
Tssr101823	Chr11:59440466-59440474 (+)	8,075 bp
Tssr101824	Chr11:59440567-59440579 (+)	8,178 bp
Tssr101825	Chr11:59444331-59444334 (+)	11,938 bp
Tssr101826	Chr11:59446743-59446748 (+)	14,351 bp
Tssr101827	Chr11:59447054-59447065 (+)	14,665 bp
Tssr101828	Chr11:59447067-59447083 (+)	14,680 bp
Tssr101829	Chr11:59447136-59447152 (+)	14,749 bp
Tssr101830	Chr11:59447163-59447173 (+)	14,773 bp
Tssr101831	Chr11:59447223-59447237 (+)	14,835 bp
Tssr101832	Chr11:59447247-59447258 (+)	14,858 bp
Tssr101833	Chr11:59447298-59447308 (+)	14,908 bp
Tssr101834	Chr11:59447314-59447326 (+)	14,925 bp
Tssr101835	Chr11:59447352-59447364 (+)	14,963 bp
Tssr101836	Chr11:59448167-59448181 (+)	15,779 bp
Tssr101837	Chr11:59448187-59448198 (+)	15,798 bp
Tssr101838	Chr11:59448200-59448218 (+)	15,814 bp
Tssr101839	Chr11:59448313-59448329 (+)	15,926 bp
Tssr101840	Chr11:59449854-59449858 (+)	17,461 bp
Tssr101841	Chr11:59449937-59449985 (+)	17,566 bp
Tssr101842	Chr11:59450090-59450106 (+)	17,703 bp
Tssr101843	Chr11:59450556-59450568 (+)	18,167 bp
Tssr101844	Chr11:59455431-59455445 (+)	23,043 bp
Tssr101845	Chr11:59456748-59456766 (+)	24,362 bp
Tssr101846	Chr11:59456801-59456812 (+)	24,412 bp
Tssr101847	Chr11:59456814-59456823 (+)	24,424 bp
Tssr101848	Chr11:59456980-59457003 (+)	24,597 bp
Tssr101849	Chr11:59457089-59457133 (+)	24,716 bp
Tssr101850	Chr11:59457146-59457169 (+)	24,763 bp
Tssr101851	Chr11:59457173-59457182 (+)	24,783 bp
Tssr101852	Chr11:59457204-59457217 (+)	24,816 bp
Tssr101853	Chr11:59457225-59457240 (+)	24,838 bp
Tssr101854	Chr11:59457242-59457253 (+)	24,853 bp
Tssr101855	Chr11:59457313-59457327 (+)	24,925 bp