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    Nlrp1b NLR family, pyrin domain containing 1B [ Mus musculus (house mouse) ]

    Gene ID: 637515, updated on 9-May-2024

    Summary

    Official Symbol
    Nlrp1bprovided by MGI
    Official Full Name
    NLR family, pyrin domain containing 1Bprovided by MGI
    Primary source
    MGI:MGI:3582959
    See related
    Ensembl:ENSMUSG00000070390 AllianceGenome:MGI:3582959
    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
    Nalp1b
    Summary
    Predicted to enable several functions, including ATP binding activity; cysteine-type endopeptidase activator activity; and nucleic acid binding activity. Acts upstream of or within protein catabolic process and pyroptosis. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of NLRP1 inflammasome complex. Human ortholog(s) of this gene implicated in vitiligo. Orthologous to human NLRP1 (NLR family pyrin domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

    See Nlrp1b in Genome Data Viewer
    Location:
    11 B4; 11 43.23 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (71043400..71133340, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (71152574..71242514, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_29884 Neighboring gene U6 snRNA-associated Sm-like protein LSm5 Neighboring gene NLR family, pyrin domain containing 1A Neighboring gene predicted gene, 23266 Neighboring gene NLR family, pyrin domain containing 1C, pseudogene Neighboring gene STARR-seq mESC enhancer starr_29885 Neighboring gene predicted gene, 23311 Neighboring gene calponin 2 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)
    • Endonuclease-mediated (1) 
    • Targeted (1)  1 citation

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATP hydrolysis activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables cysteine-type endopeptidase activator activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables double-stranded RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    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 pattern recognition receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables signaling adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in NLRP1 inflammasome complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in antiviral innate immune response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to UV-B ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in defense response to virus ISO
    Inferred from Sequence Orthology
    more info
     
    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
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within interleukin-1 alpha production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within interleukin-1 beta production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within interleukin-1 beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in pattern recognition receptor signaling pathway NAS
    Non-traceable Author Statement
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of interleukin-1 beta production NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within programmed cell death IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein homooligomerization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within pyroptosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pyroptosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in pyroptosis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in self proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of NLRP1 inflammasome complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of NLRP1 inflammasome complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of canonical inflammasome complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of canonical inflammasome complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    NACHT, LRR and PYD domains-containing protein 1b allele 2
    Names
    NACHT, LRR and PYD domains-containing protein 1b
    NACHT-, LRR-, and PYD-containing protein 1 paralog b

    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_001040696.2NP_001035786.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform 1

      See identical proteins and their annotated locations for NP_001035786.1

      Status: VALIDATED

      Source sequence(s)
      AL662908, AL663042
      Consensus CDS
      CCDS36210.1
      UniProtKB/Swiss-Prot
      A1Z198
      Related
      ENSMUSP00000104156.3, ENSMUST00000108516.9
      Conserved Domains (8) summary
      cd08330
      Location:10841164
      CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
      sd00033
      Location:630658
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:573598
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:132297
      NACHT; NACHT domain
      pfam13553
      Location:8121064
      FIIND; Function to find
      pfam17776
      Location:426535
      NLRC4_HD2; NLRC4 helical domain HD2
      pfam17779
      Location:370424
      NOD2_WH; NOD2 winged helix domain
      cl39015
      Location:592721
      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 ...
    2. NM_001162414.2NP_001155886.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform 3

      See identical proteins and their annotated locations for NP_001155886.1

      Status: VALIDATED

      Source sequence(s)
      AL662908, AL663042
      Consensus CDS
      CCDS48839.1
      UniProtKB/Swiss-Prot
      A1Z198, F6R9S5, Q2LK61, Q2LKV8
      UniProtKB/TrEMBL
      A0A1G5SJ87
      Related
      ENSMUSP00000104155.3, ENSMUST00000108515.9
      Conserved Domains (7) summary
      cd08330
      Location:10871167
      CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
      sd00033
      Location:633661
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:132300
      NACHT; NACHT domain
      pfam13553
      Location:8151067
      FIIND; Function to find
      pfam17776
      Location:426538
      NLRC4_HD2; NLRC4 helical domain HD2
      pfam17779
      Location:370424
      NOD2_WH; NOD2 winged helix domain
      cl39015
      Location:627724
      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 ...

    RNA

    1. NR_176629.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL662908, AL663042
      Related
      ENSMUST00000136493.8

    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
      71043400..71133340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017314698.2XP_017170187.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform X1

      UniProtKB/Swiss-Prot
      A1Z198
      Conserved Domains (8) summary
      cd08330
      Location:10841164
      CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
      sd00033
      Location:630658
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:573598
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:132297
      NACHT; NACHT domain
      pfam13553
      Location:8121064
      FIIND; Function to find
      pfam17776
      Location:426535
      NLRC4_HD2; NLRC4 helical domain HD2
      pfam17779
      Location:370424
      NOD2_WH; NOD2 winged helix domain
      cl39015
      Location:592721
      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 ...
    2. XM_006533907.3XP_006533970.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform X2

      See identical proteins and their annotated locations for XP_006533970.1

      UniProtKB/TrEMBL
      A0A1G5SJ87
      Conserved Domains (7) summary
      cd08330
      Location:10301110
      CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
      sd00033
      Location:576604
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:75243
      NACHT; NACHT domain
      pfam13553
      Location:7581010
      FIIND; Function to find
      pfam17776
      Location:369481
      NLRC4_HD2; NLRC4 helical domain HD2
      pfam17779
      Location:313367
      NOD2_WH; NOD2 winged helix domain
      cl39015
      Location:570667
      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 ...
    3. XM_017314699.2XP_017170188.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform X3

      Conserved Domains (3) summary
      pfam05729
      Location:132297
      NACHT; NACHT domain
      pfam17776
      Location:426535
      NLRC4_HD2; NLRC4 helical domain HD2
      pfam17779
      Location:370424
      NOD2_WH; NOD2 winged helix domain
    4. XM_017314700.1XP_017170189.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform X4

      Conserved Domains (3) summary
      pfam05729
      Location:132297
      NACHT; NACHT domain
      pfam17776
      Location:426535
      NLRC4_HD2; NLRC4 helical domain HD2
      pfam17779
      Location:370424
      NOD2_WH; NOD2 winged helix domain
    5. XM_017314701.1XP_017170190.1  NACHT, LRR and PYD domains-containing protein 1b allele 2 isoform X5

      Conserved Domains (3) summary
      pfam05729
      Location:132297
      NACHT; NACHT domain
      pfam17776
      Location:426535
      NLRC4_HD2; NLRC4 helical domain HD2
      pfam17779
      Location:370424
      NOD2_WH; NOD2 winged helix domain

    RNA

    1. XR_001780037.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001039680.1: Suppressed sequence

      Description
      NM_001039680.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.