NLRC4

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]

NLR Family CARD Domain Containing 4

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 (PubMed:15107016).
The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria (By similarity).

Activation of cysteine-type endopeptidase activityManual Assertion Based On ExperimentIMP:CACAO
Activation of cysteine-type endopeptidase activity involved in apoptotic processManual Assertion Based On ExperimentIDA:HGNC-UCL
Activation of innate immune responseISS:UniProtKB
Apoptotic processIEA:UniProtKB-KW
Defense response to bacteriumManual Assertion Based On ExperimentIDA:HGNC-UCL
Detection of bacteriumManual Assertion Based On ExperimentIDA:HGNC-UCL
Icosanoid biosynthetic process1 PublicationIC:ComplexPortal
Inflammatory responseISS:UniProtKB
Innate immune responseIEA:UniProtKB-KW
Pattern recognition receptor signaling pathway1 PublicationIC:ComplexPortal
Positive regulation of apoptotic processManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of inflammatory response1 PublicationIC:ComplexPortal
Positive regulation of interleukin-1 beta productionManual Assertion Based On ExperimentIGI:HGNC-UCL
Positive regulation of NF-kappaB transcription factor activityManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of protein processingManual Assertion Based On ExperimentIGI:ARUK-UCL
Protein homooligomerizationISS:UniProtKB
PyroptosisISS:UniProtKB

Cytoplasm
Cytoplasm, cytosol
Inflammasome

Autoinflammation with infantile enterocolitis (AIFEC):
An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias.
Familial cold autoinflammatory syndrome 4 (FCAS4):
A form of autoinflammatory syndrome, a rare autosomal dominant systemic disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold.

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.