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

Gene ID: 216799, updated on 15-Jan-2019

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
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
Expression
Broad expression in spleen adult (RPKM 1.1), lung adult (RPKM 0.8) and 25 other tissues See more
Orthologs

Genomic context

See Nlrp3 in Genome Data Viewer
Location:
11; 11 B1.3
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 11 NC_000077.6 (59541569..59566956)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (59356188..59380458)

Chromosome 11 - NC_000077.6Genomic 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 222 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 FunctionsWhat's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (11)  1 citation
  • Chemically induced (ENU) (11) 

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC129375

Gene Ontology Provided by MGI

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding ISO
Inferred from Sequence Orthology
more info
 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
NLRP3 inflammasome complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to lipopolysaccharide IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to lipopolysaccharide ISO
Inferred from Sequence Orthology
more info
 
cellular response to peptidoglycan IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytokine secretion involved in immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
defense response to Gram-positive bacterium IMP
Inferred from Mutant Phenotype
more info
PubMed 
defense response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
immune system process IEA
Inferred from Electronic Annotation
more info
 
inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
inflammatory response ISO
Inferred from Sequence Orthology
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
interleukin-1 beta production IMP
Inferred from Mutant Phenotype
more info
PubMed 
interleukin-1 secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
interleukin-18 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of NF-kappaB transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
negative regulation of NIK/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of NIK/NF-kappaB signaling ISO
Inferred from Sequence Orthology
more info
 
negative regulation of acute inflammatory response ISO
Inferred from Sequence Orthology
more info
 
negative regulation of inflammatory response ISO
Inferred from Sequence Orthology
more info
 
negative regulation of interleukin-1 beta secretion ISO
Inferred from Sequence Orthology
more info
 
positive regulation of NF-kappaB transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
positive regulation of T-helper 17 cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of T-helper 2 cell cytokine production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of T-helper 2 cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process ISO
Inferred from Sequence Orthology
more info
 
positive regulation of interleukin-1 beta secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of interleukin-1 beta secretion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-1 beta secretion IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of interleukin-1 beta secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-1 beta secretion ISO
Inferred from Sequence Orthology
more info
 
positive regulation of interleukin-13 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-4 production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-5 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of type 2 immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
NLRP3 inflammasome complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
NLRP3 inflammasome complex ISO
Inferred from Sequence Orthology
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
inflammasome complex IEA
Inferred from Electronic Annotation
more info
 
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)

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
    Conserved Domains (6) 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
  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
    Q8R4B8
    Related
    ENSMUSP00000098707.2, ENSMUST00000101148.8
    Conserved Domains (6) 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

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: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000077.6 Reference GRCm38.p4 C57BL/6J

    Range
    59541569..59566956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006532857.1XP_006532920.1  NACHT, LRR and PYD domains-containing protein 3 isoform X1

    See identical proteins and their annotated locations for XP_006532920.1

    UniProtKB/Swiss-Prot
    Q8R4B8
    Related
    ENSMUSP00000078440.3, ENSMUST00000079476.9
    Conserved Domains (6) 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
  2. XM_006532858.1XP_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
    Q8R4B8
    Conserved Domains (6) 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

RNA

  1. XR_388400.1 RNA Sequence

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