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

    Gene ID: 216799, updated on 21-Jan-2018
    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 Vega:OTTMUSG00000005801
    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
    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

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (11)  1 citation
    • Chemically induced (ENU) (10) 

    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 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 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 import into nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of NF-kappaB transcription factor activity 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 ISO
    Inferred from Sequence Orthology
    more info
     
    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 from RNA polymerase II promoter 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 
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    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

    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
    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 (7) summary
      smart00368
      Location:965992
      LRR_RI; Leucine rich repeat, ribonuclease inhibitor type
      COG4886
      Location:736953
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      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 ...
      sd00033
      Location:740768
      LRR_RI; leucine-rich repeat [structural motif]
      pfam02758
      Location:686
      PYRIN; PAAD/DAPIN/Pyrin domain
      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, OTTMUSP00000005970, ENSMUST00000079476.9, OTTMUST00000012840
      Conserved Domains (7) summary
      smart00368
      Location:965992
      LRR_RI; Leucine rich repeat, ribonuclease inhibitor type
      COG4886
      Location:736953
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      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 ...
      sd00033
      Location:740768
      LRR_RI; leucine-rich repeat [structural motif]
      pfam02758
      Location:686
      PYRIN; PAAD/DAPIN/Pyrin domain
      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 (7) summary
      smart00368
      Location:965992
      LRR_RI; Leucine rich repeat, ribonuclease inhibitor type
      COG4886
      Location:736953
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      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 ...
      sd00033
      Location:740768
      LRR_RI; leucine-rich repeat [structural motif]
      pfam02758
      Location:686
      PYRIN; PAAD/DAPIN/Pyrin domain
      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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