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    Nlrc4 NLR family, CARD domain containing 4 [ Mus musculus (house mouse) ]

    Gene ID: 268973, updated on 9-Dec-2024

    Summary

    Official Symbol
    Nlrc4provided by MGI
    Official Full Name
    NLR family, CARD domain containing 4provided by MGI
    Primary source
    MGI:MGI:3036243
    See related
    Ensembl:ENSMUSG00000039193 AllianceGenome:MGI:3036243
    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
    CLAN; IPAF; CLAN1; CLANA; CLANB; CLANC; CLAND; Card12; 9530011P19Rik
    Summary
    Enables identical protein binding activity. Involved in several processes, including positive regulation of interleukin-1 beta production; pyroptotic inflammatory response; and response to bacterium. Acts upstream of or within regulation of apoptotic process and regulation of cysteine-type endopeptidase activity involved in apoptotic process. Located in cytosol. Part of IPAF inflammasome complex. Used to study familial cold autoinflammatory syndrome 4. Human ortholog(s) of this gene implicated in familial cold autoinflammatory syndrome 4. Orthologous to human NLRC4 (NLR family CARD domain containing 4). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in large intestine adult (RPKM 5.3), small intestine adult (RPKM 2.0) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Nlrc4 in Genome Data Viewer
    Location:
    17 E2; 17 45.64 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (74733254..74766140, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (74426255..74459144, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8696 Neighboring gene spastin Neighboring gene STARR-positive B cell enhancer ABC_E5627 Neighboring gene solute carrier family 30 (zinc transporter), member 6 Neighboring gene STARR-seq mESC enhancer starr_43220 Neighboring gene predicted gene 4708 Neighboring gene STARR-seq mESC enhancer starr_43223 Neighboring gene STARR-positive B cell enhancer ABC_E772 Neighboring gene ribosomal protein S6 pseudogene Neighboring gene Yip1 domain family, member 4

    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)

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables caspase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables endopeptidase activator activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in activation of cysteine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in activation of innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in defense response to bacterium ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in defense response to bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in detection of bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in detection of bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in detection of bacterium ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in detection of bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of NF-kappaB transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    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 protein processing ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pyroptotic inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of IPAF inflammasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    NLR family CARD domain-containing protein 4
    Names
    caspase recruitment domain family, member 12
    caspase recruitment domain-containing protein 12
    ice protease-activating factor

    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_001033367.3NP_001028539.1  NLR family CARD domain-containing protein 4

      See identical proteins and their annotated locations for NP_001028539.1

      Status: VALIDATED

      Source sequence(s)
      CT033749
      Consensus CDS
      CCDS37692.1
      UniProtKB/Swiss-Prot
      Q3TAU8, Q3UP24
      UniProtKB/TrEMBL
      A0A3Q4EGE7
      Related
      ENSMUSP00000059637.8, ENSMUST00000052124.9
      Conserved Domains (6) summary
      COG5635
      Location:166465
      COG5635; Predicted NTPase, NACHT family domain [Signal transduction mechanisms]
      sd00034
      Location:664689
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam00619
      Location:187
      CARD; Caspase recruitment domain
      pfam05729
      Location:163310
      NACHT; NACHT domain
      pfam17889
      Location:465579
      NLRC4_HD; NLRC4 helical domain
      cl39015
      Location:755871
      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 ...

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      74733254..74766140 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524346.5XP_006524409.1  NLR family CARD domain-containing protein 4 isoform X1

      See identical proteins and their annotated locations for XP_006524409.1

      UniProtKB/Swiss-Prot
      Q3TAU8, Q3UP24
      UniProtKB/TrEMBL
      A0A3Q4EGE7
      Conserved Domains (6) summary
      COG5635
      Location:166465
      COG5635; Predicted NTPase, NACHT family domain [Signal transduction mechanisms]
      sd00034
      Location:664689
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam00619
      Location:187
      CARD; Caspase recruitment domain
      pfam05729
      Location:163310
      NACHT; NACHT domain
      pfam17889
      Location:465579
      NLRC4_HD; NLRC4 helical domain
      cl39015
      Location:755871
      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_006524347.5XP_006524410.1  NLR family CARD domain-containing protein 4 isoform X2

      UniProtKB/TrEMBL
      A0A3Q4EGE7
      Conserved Domains (6) summary
      COG5635
      Location:28327
      COG5635; Predicted NTPase, NACHT family domain [Signal transduction mechanisms]
      sd00033
      Location:715742
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:526551
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:25172
      NACHT; NACHT domain
      pfam17889
      Location:327441
      NLRC4_HD; NLRC4 helical domain
      cl39015
      Location:617733
      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_017317491.2XP_017172980.1  NLR family CARD domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      Q3TAU8, Q3UP24
      UniProtKB/TrEMBL
      A0A3Q4EGE7
      Conserved Domains (6) summary
      COG5635
      Location:166465
      COG5635; Predicted NTPase, NACHT family domain [Signal transduction mechanisms]
      sd00034
      Location:664689
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam00619
      Location:187
      CARD; Caspase recruitment domain
      pfam05729
      Location:163310
      NACHT; NACHT domain
      pfam17889
      Location:465579
      NLRC4_HD; NLRC4 helical domain
      cl39015
      Location:755871
      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 ...