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

Gene ID: 216799, updated on 20-Feb-2024

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
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Genomic context

See Nlrp3 in Genome Data Viewer
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_000077.7Genomic Context describing neighboring genes Neighboring gene ariadne homolog 2 pseudogene Neighboring gene zinc finger with KRAB and SCAN domains 17 Neighboring gene RIKEN cDNA 4933439C10 gene Neighboring gene olfactory receptor family 2 subfamily B member 11 Neighboring gene high mobility group box 1-like pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Clone Names

  • MGC129375

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 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

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)

NEW Try the new Transcript table

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)

  1. NM_001359638.1NP_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:965992
    LRR_RI; Leucine rich repeat, ribonuclease inhibitor type
    cd00116
    Location:573950
    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:888
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:740768
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:216385
    NACHT; NACHT domain
    pfam14484
    Location:136205
    FISNA; Fish-specific NACHT associated domain
    pfam17779
    Location:460516
    NOD2_WH; NOD2 winged helix domain
  2. NM_145827.4NP_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:965992
    LRR_RI; Leucine rich repeat, ribonuclease inhibitor type
    cd00116
    Location:573950
    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:888
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:740768
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:216385
    NACHT; NACHT domain
    pfam14484
    Location:136205
    FISNA; Fish-specific NACHT associated domain
    pfam17779
    Location:460516
    NOD2_WH; NOD2 winged helix domain

RNA

  1. 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

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    59432395..59457781
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036156548.1XP_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:965992
    LRR_RI; Leucine rich repeat, ribonuclease inhibitor type
    cd00116
    Location:573950
    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:888
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:740768
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:216385
    NACHT; NACHT domain
    pfam14484
    Location:136205
    FISNA; Fish-specific NACHT associated domain
    pfam17779
    Location:460516
    NOD2_WH; NOD2 winged helix domain
  2. XM_006532858.2XP_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:965992
    LRR_RI; Leucine rich repeat, ribonuclease inhibitor type
    cd00116
    Location:573950
    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:888
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:740768
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:216385
    NACHT; NACHT domain
    pfam14484
    Location:136205
    FISNA; Fish-specific NACHT associated domain
    pfam17779
    Location:460516
    NOD2_WH; NOD2 winged helix domain
  3. XM_036156549.1XP_036012442.1  NACHT, LRR and PYD domains-containing protein 3 isoform X2

    Conserved Domains (6) summary
    cd00116
    Location:573947
    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:888
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:740761
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:216385
    NACHT; NACHT domain
    pfam14484
    Location:136205
    FISNA; Fish-specific NACHT associated domain
    pfam17779
    Location:460516
    NOD2_WH; NOD2 winged helix domain

RNA

  1. XR_004936916.1 RNA Sequence