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    Nlrp6 NLR family, pyrin domain containing 6 [ Mus musculus (house mouse) ]

    Gene ID: 101613, updated on 21-Apr-2024

    Summary

    Official Symbol
    Nlrp6provided by MGI
    Official Full Name
    NLR family, pyrin domain containing 6provided by MGI
    Primary source
    MGI:MGI:2141990
    See related
    Ensembl:ENSMUSG00000038745 AllianceGenome:MGI:2141990
    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
    Avr; Navr; Nalp6; Pypaf5; Non-AVR; Navr/Avr
    Summary
    The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. [provided by RefSeq, Feb 2013]
    Expression
    Biased expression in large intestine adult (RPKM 52.0), liver adult (RPKM 39.5) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    7 F5; 7 86.14 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (140500777..140509105)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (140920902..140929192)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 8B Neighboring gene STARR-positive B cell enhancer ABC_E8220 Neighboring gene cDNA sequence BC023486 Neighboring gene STARR-positive B cell enhancer ABC_E2853 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:148127673-148127984 Neighboring gene protein glucosylgalactosylhydroxylysine glucosidase Neighboring gene interferon induced transmembrane protein 5

    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)
    • Targeted (7)  1 citation
    • Endonuclease-mediated (3) 

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables double-stranded RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables lipopolysaccharide binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables lipoteichoic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipoteichoic acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables molecular condensate scaffold activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular condensate scaffold activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables pattern recognition receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pattern recognition receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peptide binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables vasopressin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables vasopressin receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in NLRP6 inflammasome complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in NLRP6 inflammasome complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within activation of cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in acute inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within acute inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within acute inflammatory response to antigenic stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in antiviral innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in antiviral innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in antiviral innate immune response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in defense response to Gram-positive bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to Gram-positive bacterium ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in defense response to virus ISO
    Inferred from Sequence Orthology
    more info
     
    NOT involved_in host-mediated regulation of intestinal microbiota composition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in host-mediated regulation of intestinal microbiota composition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within immune system process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within inflammatory response IEA
    Inferred from Electronic Annotation
    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 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 necroptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of inflammatory response to antigenic stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of toll-like receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of type II interferon production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neutrophil-mediated killing of gram-positive bacterium 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 interleukin-18-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-18-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-18-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    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 pyroptosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within pyroptosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of mucus secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within response to bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within wound healing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of NLRP6 inflammasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of NLRP6 inflammasome complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of canonical inflammasome complex IBA
    Inferred from Biological aspect of Ancestor
    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
     
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in non-membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in non-membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    NACHT, LRR and PYD domains-containing protein 6
    Names
    NACHT, leucine rich repeat and PYD containing 6
    NACHT/LRR/pyrin domain-containing protein 6
    PYRIN-containing APAF1-like protein 5
    angiotensin II/vasopressin receptor
    non-angiotensin-vasopressin receptor

    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_133946.3NP_598707.2  NACHT, LRR and PYD domains-containing protein 6

      See identical proteins and their annotated locations for NP_598707.2

      Status: VALIDATED

      Source sequence(s)
      AC107815, AC162287
      Consensus CDS
      CCDS40178.2
      UniProtKB/Swiss-Prot
      C9W978, F8UKQ6, Q67EY0, Q8K0L4, Q91WS2
      UniProtKB/TrEMBL
      E9QNS0
      Related
      ENSMUSP00000139357.2, ENSMUST00000183845.8
      Conserved Domains (3) summary
      cd00116
      Location:617863
      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 ...
      cd08321
      Location:1696
      Pyrin_ASC-like; Pyrin Death Domain found in ASC
      pfam05729
      Location:195348
      NACHT; NACHT domain

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      140500777..140509105
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001081389.1: Suppressed sequence

      Description
      NM_001081389.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.