IRAK4 Gene Summary [Human]
This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | IRAK4 |
| Official Name | interleukin 1 receptor associated kinase 4 [Source:HGNC Symbol;Acc:HGNC:17967] |
| Ensembl ID | ENSG00000198001 |
| Bio databases IDs | |
| Aliases | interleukin 1 receptor associated kinase 4 |
| Synonyms | 8430405M07Rik, 9330209D03Rik, IMD67, interleukin-1 receptor-associated kinase 4, INTERLEUKIN receptor-ASSOCIATED KINASE 4, IPD1, NY-REN-64, REN64 |
| 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 IRAK4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Death domain
- protein serine/threonine kinase
- Protein kinase (unclassified specificity)
- protein kinase binding
- ATP-binding domain
- Protein tyrosine and serine/threonine kinase
- protein binding
- protein-tyrosine kinase
- Protein kinase domain
- kinase
- Serine/Threonine protein kinases, catalytic domain
- kinase domain
- interleukin-1 receptor binding
- Protein Kinases, catalytic domain
- Tyrosine kinase, catalytic domain
- Death Domain Superfamily of protein-protein interaction domains
Pathways
Biological processes and signaling networks where the IRAK4 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
- septic shock
- glioma
- unspecified disease
- IRAK4 deficiency
- glomerulonephritis
- astrocytosis
- endotoxin shock response
- recurrent isolated invasive pneumococcal disease type 1
- complete testicular feminization syndrome
- cardiac fibrosis
role in cell
- expression in
- apoptosis
- survival
- phosphorylation in
- activation in
- quantity
- proliferation
- growth
- production in
- induction 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
- cell surface
- Extracellular Space
- Plasma Membrane
- cytosol
- endosomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IRAK4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Toll signaling pathway
- toll-like receptor 9 signaling pathway
- toll-like receptor 4 signaling pathway
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- JNK cascade
- positive regulation of smooth muscle cell proliferation
- toll-like receptor signaling pathway
- neutrophil mediated immunity
- MyD88-dependent toll-like receptor signaling pathway
- cellular response to lipopolysaccharide
- innate immune response
- cytokine-mediated signaling pathway
- interleukin-1-mediated signaling pathway
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular space
- cytoplasm
- cytosol
- endosome membrane
- extrinsic to plasma membrane
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- protein kinase binding
- ATP binding
- protein binding
- protein serine/threonine kinase activity
- kinase activity
- interleukin-1 receptor binding