Human Gene NLRC4 (uc021vfq.1) Description and Page Index
Description: Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 3, mRNA. RefSeq Summary (NM_001199139): 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]. Transcript (Including UTRs) Position: hg19 chr2:32,449,518-32,490,689 Size: 41,172 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr2:32,449,542-32,481,844 Size: 32,303 Coding Exon Count: 8
ID:NLRC4_HUMAN DESCRIPTION: RecName: Full=NLR family CARD domain-containing protein 4; AltName: Full=CARD, LRR, and NACHT-containing protein; Short=Clan protein; AltName: Full=Caspase recruitment domain-containing protein 12; AltName: Full=Ice protease-activating factor; Short=Ipaf; FUNCTION: Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis. SUBUNIT: Component of the NLRC4 inflammasome (By similarity). Homooligomer. Interacts with ASC, pro-caspase-1, NOD2, BCL10 and NALP1 (NAC) by CARD-CARD interaction. INTERACTION: Self; NbExp=3; IntAct=EBI-1222527, EBI-1222527; P29466:CASP1; NbExp=4; IntAct=EBI-1222527, EBI-516667; SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytosol (By similarity). Note=Cytoplasmic filaments. TISSUE SPECIFICITY: Isoform 2 is expressed ubiquitously, although highly expressed in lung and spleen. Isoform 1 is highly expressed in lung, followed by leukocytes especially monocytes, lymph node, colon, brain, prostate, placenta, spleen, bone marrow and fetal liver. Isoform 4 is only detected in brain. PTM: Phosphorylated at Ser-533 following infection of macrophages with S.typhimurium (Salmonella). Phosphorylation is essential for NLRC4 inflammasome function to promote caspase-1 activation and pyroptosis. PRKCD phosphorylates Ser-533 in vitro (By similarity). SIMILARITY: Contains 1 CARD domain. SIMILARITY: Contains 14 LRR (leucine-rich) repeats. SIMILARITY: Contains 1 NACHT domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NLRC4ID43189ch2p22.html";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): NLRC4 CDC HuGE Published Literature: NLRC4
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 47986 - DEATH domain 52047 - RNI-like 52058 - L domain-like 52075 - Outer arm dynein light chain 1 52540 - P-loop containing nucleoside triphosphate hydrolases
ModBase Predicted Comparative 3D Structure on Q9NPP4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.