Nlrp3 NLR family, pyrin domain containing 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nlrp3provided by MGI
Official Full Name: NLR family, pyrin domain containing 3provided by MGI
Primary source: MGI:MGI:2653833
See related: Ensembl:ENSMUSG00000032691 AllianceGenome:MGI:2653833
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: FCU; MWS; FCAS; Cias1; Mmig1; NALP3; Pypaf1; AII/AVP; AGTAVPRL
Summary: Enables DNA-binding transcription factor binding activity and sequence-specific DNA binding activity. Involved in several processes, including positive regulation of T-helper cell differentiation; positive regulation of cytokine production; and response to bacterium. Acts upstream of or within several processes, including NLRP3 inflammasome complex assembly; activation of cysteine-type endopeptidase activity involved in apoptotic process; and defense response to virus. Located in cytoplasm and nucleus. Part of NLRP3 inflammasome complex. Is expressed in central nervous system and retina. Used to study CINCA Syndrome; familial cold autoinflammatory syndrome 1; and non-alcoholic fatty liver disease. Human ortholog(s) of this gene implicated in CINCA Syndrome; Muckle-Wells syndrome; autosomal dominant nonsyndromic deafness 34; familial cold autoinflammatory syndrome 1; and urticaria. Orthologous to human NLRP3 (NLR family pyrin domain containing 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in spleen adult (RPKM 1.1), lung adult (RPKM 0.8) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B1.3; 11 37.73 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (59432395..59457781)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (59541569..59566955)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Leptin signalling regulates transcriptional differences in granulosa cells from genetically obese mice but not the activation of NLRP3 inflammasome.
Title: Leptin signalling regulates transcriptional differences in granulosa cells from genetically obese mice but not the activation of NLRP3 inflammasome.
METTL3-deficiency m6A-dependently degrades MALAT1 to suppress NLRP3-mediated pyroptotic cell death and inflammation in Mycobacterium tuberculosis (H37Ra strain)-infected mouse macrophages.
Title: METTL3-deficiency m6A-dependently degrades MALAT1 to suppress NLRP3-mediated pyroptotic cell death and inflammation in Mycobacterium tuberculosis (H37Ra strain)-infected mouse macrophages.
IL-4 activates ULK1/Atg9a/Rab9 in asthma, NLRP3 inflammasomes, and Golgi fragmentation by increasing autophagy flux and mitochondrial oxidative stress.
Title: IL-4 activates ULK1/Atg9a/Rab9 in asthma, NLRP3 inflammasomes, and Golgi fragmentation by increasing autophagy flux and mitochondrial oxidative stress.
ZDHHC5-mediated NLRP3 palmitoylation promotes NLRP3-NEK7 interaction and inflammasome activation.
Title: ZDHHC5-mediated NLRP3 palmitoylation promotes NLRP3-NEK7 interaction and inflammasome activation.
NLRP3 Inflammasome-dependent Pathway is Involved in the Pathogenesis of Polycystic Ovary Syndrome.
Title: NLRP3 Inflammasome-dependent Pathway is Involved in the Pathogenesis of Polycystic Ovary Syndrome.
ER stress promotes mitochondrial calcium overload and activates the ROS/NLRP3 axis to mediate fatty liver ischemic injury.
Title: ER stress promotes mitochondrial calcium overload and activates the ROS/NLRP3 axis to mediate fatty liver ischemic injury.
Potential i-Nos/Arg-1 Switch with NLRP3 and Parasitic Load Down Regulation in Experimental Schistosoma mansoni Infection via Chloroquine Repurposing.
Title: Potential i-Nos/Arg-1 Switch with NLRP3 and Parasitic Load Down Regulation in Experimental Schistosoma mansoni Infection via Chloroquine Repurposing.
The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.
Title: The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.
Two-pore potassium channel TREK-1 (K2P2.1) regulates NLRP3 inflammasome activity in macrophages.
Title: Two-pore potassium channel TREK-1 (K2P2.1) regulates NLRP3 inflammasome activity in macrophages.
SERTAD1 initiates NLRP3-mediated inflammasome activation through restricting NLRP3 polyubiquitination.
Title: SERTAD1 initiates NLRP3-mediated inflammasome activation through restricting NLRP3 polyubiquitination.

Submit: New GeneRIF Correction See all GeneRIFs (1136)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (13) 1 citation
Chemically induced (ENU) (12)
Endonuclease-mediated (14) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ADP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor binding	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type endopeptidase activator activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
enables molecular condensate scaffold activity	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol phosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4-phosphate binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling adaptor activity	ISO Inferred from Sequence Orthology more info
enables small molecule sensor activity	IDA Inferred from Direct Assay more info	PubMed
enables small molecule sensor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in NLRP3 inflammasome complex assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within NLRP3 inflammasome complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in NLRP3 inflammasome complex assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within acute inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	ISO Inferred from Sequence Orthology more info
involved_in cellular response to peptidoglycan	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to virus	ISO Inferred from Sequence Orthology more info
involved_in defense response to Gram-positive bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within defense response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of biotic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of biotic stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within immune system process	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within innate immune response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of interleukin-1 beta production	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within interleukin-1 beta production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within interleukin-1 production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within interleukin-18 production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within macrophage cytokine production	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within macrophage cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of acute inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of acute inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of interleukin-1 beta production	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of non-canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of non-canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
involved_in osmosensory signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in pattern recognition receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of T-helper 17 cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of T-helper 2 cell cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of T-helper 2 cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cytokine production involved in immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of inflammatory response	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of interleukin-1 beta production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-1 beta production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interleukin-13 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-4 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-5 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of non-canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type 2 immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	ISO Inferred from Sequence Orthology more info
involved_in protein maturation	ISO Inferred from Sequence Orthology more info
involved_in pyroptosis	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
part_of NLRP3 inflammasome complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NLRP3 inflammasome complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of NLRP3 inflammasome complex	ISO Inferred from Sequence Orthology more info
part_of canonical inflammasome complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in interphase microtubule organizing center	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	ISO Inferred from Sequence Orthology more info
located_in microtubule organizing center	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule organizing center	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: NACHT, LRR and PYD domains-containing protein 3

Names: NACHT/LRR/pyrin domain-containing protein 3; PYRIN-containing APAF1-like protein 1; cold autoinflammatory syndrome 1 protein homolog; cryopyrin; mast cell maturation-associated-inducible protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001359638.1 → NP_001346567.1 NACHT, LRR and PYD domains-containing protein 3

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AL592522, AW121591, AY337285, BY186774

Consensus CDS

CCDS24771.1

UniProtKB/Swiss-Prot

Q1JQ87, Q1JQ88, Q6JEL0, Q8R4B8, T1W2H6

Related

ENSMUSP00000078440.4, ENSMUST00000079476.10

Conserved Domains (7) summary

smart00368
Location:965 → 992

LRR_RI; Leucine rich repeat, ribonuclease inhibitor type

cd00116
Location:573 → 950

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd08320
Location:8 → 88

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:740 → 768

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:216 → 385

NACHT; NACHT domain

pfam14484
Location:136 → 205

FISNA; Fish-specific NACHT associated domain

pfam17779
Location:460 → 516

NOD2_WH; NOD2 winged helix domain
NM_145827.4 → NP_665826.1 NACHT, LRR and PYD domains-containing protein 3

See identical proteins and their annotated locations for NP_665826.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AL592522, AW121591, AY337285, BY722759

Consensus CDS

CCDS24771.1

UniProtKB/Swiss-Prot

Q1JQ87, Q1JQ88, Q6JEL0, Q8R4B8, T1W2H6

Related

ENSMUSP00000098707.3, ENSMUST00000101148.9

Conserved Domains (7) summary

smart00368
Location:965 → 992

LRR_RI; Leucine rich repeat, ribonuclease inhibitor type

cd00116
Location:573 → 950

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd08320
Location:8 → 88

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:740 → 768

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:216 → 385

NACHT; NACHT domain

pfam14484
Location:136 → 205

FISNA; Fish-specific NACHT associated domain

pfam17779
Location:460 → 516

NOD2_WH; NOD2 winged helix domain

RNA

NR_153314.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL592522, AW121591, AY337285, BY722759

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

59432395..59457781

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156548.1 → XP_036012441.1 NACHT, LRR and PYD domains-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

Q1JQ87, Q1JQ88, Q6JEL0, Q8R4B8, T1W2H6

Conserved Domains (7) summary

smart00368
Location:965 → 992

LRR_RI; Leucine rich repeat, ribonuclease inhibitor type

cd00116
Location:573 → 950

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd08320
Location:8 → 88

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:740 → 768

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:216 → 385

NACHT; NACHT domain

pfam14484
Location:136 → 205

FISNA; Fish-specific NACHT associated domain

pfam17779
Location:460 → 516

NOD2_WH; NOD2 winged helix domain
XM_006532858.2 → XP_006532921.1 NACHT, LRR and PYD domains-containing protein 3 isoform X1

See identical proteins and their annotated locations for XP_006532921.1

UniProtKB/Swiss-Prot

Q1JQ87, Q1JQ88, Q6JEL0, Q8R4B8, T1W2H6

Conserved Domains (7) summary

smart00368
Location:965 → 992

LRR_RI; Leucine rich repeat, ribonuclease inhibitor type

cd00116
Location:573 → 950

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd08320
Location:8 → 88

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:740 → 768

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:216 → 385

NACHT; NACHT domain

pfam14484
Location:136 → 205

FISNA; Fish-specific NACHT associated domain

pfam17779
Location:460 → 516

NOD2_WH; NOD2 winged helix domain
XM_036156549.1 → XP_036012442.1 NACHT, LRR and PYD domains-containing protein 3 isoform X2

Conserved Domains (6) summary

cd00116
Location:573 → 947

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd08320
Location:8 → 88

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:740 → 761

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:216 → 385

NACHT; NACHT domain

pfam14484
Location:136 → 205

FISNA; Fish-specific NACHT associated domain

pfam17779
Location:460 → 516

NOD2_WH; NOD2 winged helix domain