NLRC4 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | NLRC4 |
| Official Name | NLR family CARD domain containing 4 [Source:HGNC Symbol;Acc:HGNC:16412] |
| Ensembl ID | ENSG00000091106 |
| Bio databases IDs | |
| Aliases | NLR family CARD domain containing 4, nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4, NOD-like receptor C4 |
| Synonyms | 9530011P19Rik, AIFEC, CARD12, CLAN, CLAN1, CLANA, CLANB, CLANC, CLAND, CLR2.1, FCAS4, IPAF, NLR family CARD domain containing 4, NLR family, CARD domain containing 4 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NLRC4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein phosphatase 1 regulatory subunit 42
- protease binding
- ATP binding
- enzyme regulator activity
- protein binding
- magnesium ion binding
- NACHT domain
- protease activator
- identical protein binding
- nucleotide-binding domain
- Caspase recruitment domain
- leucine-rich repeat
- NLRC4 helical domain
- protein homodimerization
- GTP binding motif, P-loop
- Death Domain Superfamily of protein-protein interaction domains
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
Pathways
Biological processes and signaling networks where the NLRC4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- multiple sclerosis
- macrophage activation syndrome
- lung adenocarcinoma
- lung adenocarcinoma formation
- septic shock
- autoinflammation with infantile enterocolitis
- retinal degeneration
- sepsis
- atherosclerosis
- cerebral hemorrhage
role in cell
- production in
- molecular cleavage in
- activation in
- cell death
- expression in
- formation
- formation in
- differentiation
- binding in
- autophagy in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- Plasma Membrane
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NLRC4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of inflammatory response
- protein homooligomerization
- icosanoid biosynthetic process
- positive regulation of NF-kappaB transcription factor activity
- defense response to bacterium
- pattern recognition receptor signaling pathway
- inflammatory response
- activation of innate immune response
- activation of cysteine-type endopeptidase activity
- innate immune response
- apoptotic process
- positive regulation of apoptotic process
- pyroptosis
- detection of bacterium
- positive regulation of protein processing
- positive regulation of interleukin-1 beta production
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- intracellular membrane-bounded organelle
- IPAF inflammasome complex
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- endopeptidase activator activity
- magnesium ion binding
- ATP binding
- identical protein binding
- protein binding
- protein homodimerization activity