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    NLRC4 NLR family CARD domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 58484, updated on 9-Jul-2016
    Official Symbol
    NLRC4provided by HGNC
    Official Full Name
    NLR family CARD domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:16412
    See related
    Ensembl:ENSG00000091106 HPRD:06014; MIM:606831; Vega:OTTHUMG00000152107
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLAN; IPAF; AIFEC; CLAN1; CLANA; CLANB; CLANC; CLAND; FCAS4; CARD12; CLR2.1
    Summary
    This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
    Orthologs
    Location:
    2p22.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (32224449..32265743, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (32449518..32490812, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 30 member 6 Neighboring gene DEAD-box helicase 50 pseudogene 1 Neighboring gene RNA, U6 small nuclear 647, pseudogene Neighboring gene Yip1 domain family member 4 Neighboring gene baculoviral IAP repeat containing 6 Neighboring gene microRNA 558

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Autoinflammation with infantile enterocolitis
    MedGen: CN220130 OMIM: 616050 GeneReviews: Not available
    Compare labs
    Familial cold autoinflammatory syndrome 4
    MedGen: CN221665 OMIM: 616115 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.
    NHGRI GWA Catalog
    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Inflammasomes, organism-specific biosystem (from REACTOME)
      Inflammasomes, organism-specific biosystemIn contrast to NOD1/2 some NLRPs function as large macromolecular complexes called 'Inflammasomes'. These multiprotein platforms control activation of the cysteinyl aspartate protease caspase-1 and t...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Legionellosis, organism-specific biosystem (from KEGG)
      Legionellosis, organism-specific biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
    • Legionellosis, conserved biosystem (from KEGG)
      Legionellosis, conserved biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
    • NOD pathway, organism-specific biosystem (from WikiPathways)
      NOD pathway, organism-specific biosystemThe NOD (nucleotide-binding oligomerization domain) proteins NOD1 and NOD2 have important roles in innate immunity as sensors of microbial components derived from bacterial peptidoglycan. The importa...
    • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
      NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
      Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
    • Salmonella infection, organism-specific biosystem (from KEGG)
      Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • Salmonella infection, conserved biosystem (from KEGG)
      Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • TP53 Regulates Transcription of Caspase Activators and Caspases, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of Caspase Activators and Caspases, organism-specific biosystemTP53 (p53) transcriptionally regulates cytosolic caspase activators, such as APAF1, PIDD1, and NLRC4, and caspases themselves, such as CASP1, CASP6 and CASP10. These caspases and their activators are...
    • TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystemThe tumor suppressor TP53 (p53) exerts its tumor suppressive role in part by regulating transcription of a number of genes involved in cell death, mainly apoptotic cell death. The majority of apoptot...
    • The IPAF inflammasome, organism-specific biosystem (from REACTOME)
      The IPAF inflammasome, organism-specific biosystemThe IPAF (NLRC4) inflammasome can be activated by several stimuli, most notably by Gram-negative bacteria with either type III or type IV secretion systems that result in cytosolic flagellin, which i...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cysteine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    magnesium ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    detection of bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inhibition of cysteine-type endopeptidase activity involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    interleukin-1 beta secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitotic spindle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homooligomerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    pyroptosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    regulation of signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    IPAF inflammasome complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    IPAF inflammasome complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    intracellular NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    spindle microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    NLR family CARD domain-containing protein 4
    Names
    CARD, LRR, and NACHT-containing protein
    ICE-protease activating factor
    NLR family, CARD domain containing 4
    NOD-like receptor C4
    caspase recruitment domain family, member 12
    caspase recruitment domain-containing protein 12
    nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4

    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.

    Genomic

    1. NG_041780.1 RefSeqGene

      Range
      5001..46295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199138.1NP_001186067.1  NLR family CARD domain-containing protein 4 isoform a

      See identical proteins and their annotated locations for NP_001186067.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon and encodes the same protein, as compared to variant 1.
      Source sequence(s)
      AK095467, AW337918, BC031555
      Consensus CDS
      CCDS33174.1
      UniProtKB/Swiss-Prot
      Q9NPP4
      Related
      ENSP00000385428, OTTHUMP00000201173, ENST00000402280, OTTHUMT00000325225
      Conserved Domains (5) summary
      cd00116
      Location:738978
      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 ...
      pfam05729
      Location:163316
      NACHT; NACHT domain
      cd01671
      Location:479
      CARD; Caspase activation and recruitment domain: a protein-protein interaction domain
      sd00033
      Location:738764
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:691713
      LRR_AMN1; leucine-rich repeat [structural motif]
    2. NM_001199139.1NP_001186068.1  NLR family CARD domain-containing protein 4 isoform a

      See identical proteins and their annotated locations for NP_001186068.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the 5' UTR and encodes the same protein, as compared to variant 1.
      Source sequence(s)
      AW337918, AY035391
      Consensus CDS
      CCDS33174.1
      UniProtKB/Swiss-Prot
      Q9NPP4
      Conserved Domains (5) summary
      cd00116
      Location:738978
      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 ...
      pfam05729
      Location:163316
      NACHT; NACHT domain
      cd01671
      Location:479
      CARD; Caspase activation and recruitment domain: a protein-protein interaction domain
      sd00033
      Location:738764
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:691713
      LRR_AMN1; leucine-rich repeat [structural motif]
    3. NM_001302504.1NP_001289433.1  NLR family CARD domain-containing protein 4 isoform b

      See identical proteins and their annotated locations for NP_001289433.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform b, which is shorter than isoform a.
      Source sequence(s)
      AL121653, AW337918, AY027788
      Consensus CDS
      CCDS77400.1
      UniProtKB/Swiss-Prot
      Q9NPP4
      Related
      ENSP00000339666, OTTHUMP00000201172, ENST00000342905, OTTHUMT00000325224
      Conserved Domains (4) summary
      COG4886
      Location:79329
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:71313
      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 ...
      cd01671
      Location:479
      CARD; Caspase activation and recruitment domain: a protein-protein interaction domain
      sd00033
      Location:100124
      LRR_RI; leucine-rich repeat [structural motif]
    4. NM_021209.4NP_067032.3  NLR family CARD domain-containing protein 4 isoform a

      See identical proteins and their annotated locations for NP_067032.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AW337918, BC031555, DN998613
      Consensus CDS
      CCDS33174.1
      UniProtKB/Swiss-Prot
      Q9NPP4
      Related
      ENSP00000354159, OTTHUMP00000201171, ENST00000360906, OTTHUMT00000325223
      Conserved Domains (5) summary
      cd00116
      Location:738978
      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 ...
      pfam05729
      Location:163316
      NACHT; NACHT domain
      cd01671
      Location:479
      CARD; Caspase activation and recruitment domain: a protein-protein interaction domain
      sd00033
      Location:738764
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:691713
      LRR_AMN1; leucine-rich repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      32224449..32265743 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004619.1XP_016860108.1  

    RNA

    1. XR_001738872.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      32379411..32420670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)