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

Gene ID: 268973, updated on 21-Apr-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; protein homooligomerization; 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, Apr 2022]
Expression
Biased expression in large intestine adult (RPKM 5.3), small intestine adult (RPKM 2.0) and 5 other tissues See more
Orthologs
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Genomic context

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 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 nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
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 cysteine-type endopeptidase activity involved in apoptotic process ISO
Inferred from Sequence Orthology
more info
 
involved_in activation of innate immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within 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 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
 
acts_upstream_of_or_within immune system process IEA
Inferred from Electronic Annotation
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 
acts_upstream_of_or_within 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 pyroptosis 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 involved in apoptotic process 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 
part_of canonical inflammasome complex IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
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)

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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 ...