IRAK1BP1 Gene
Interleukin-1 Receptor Associated Kinase 1 Binding Protein 1
Gene Information Card
| Symbol | IRAK1BP1 |
|---|---|
| Full Name | Interleukin-1 Receptor Associated Kinase 1 Binding Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 134728 ncbi.nlm.nih.gov/gene/134728 |
| Ensembl ID | ENSG00000146250 |
| UniProt ID | Q9NWZ3 |
| OMIM ID | 616125 |
| HGNC ID | 29119 |
| Aliases | AIP70, SIMPL |
Description
IRAK1BP1 (Interleukin-1 Receptor Associated Kinase 1 Binding Protein 1) is a protein-coding gene located on chromosome 6q14.1. The encoded protein interacts with IRAK1 and modulates NF-kappa-B signaling. It is involved in innate immune responses and may play a role in inflammatory and neoplastic processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | Not available |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.1 | Low |
| Heart | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 12.0 | Moderate expression |
| K562 | 9.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants curated in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • signal transduction |
| • negative regulation of NF-kappaB transcription factor activity | • cytoplasm |
Pathways
• Toll-like receptor signaling pathway
• NF-kappa B signaling pathway
Protein Summary
IRAK1BP1 is a 70 kDa protein that binds to IRAK1 and negatively regulates TLR/IL-1R-mediated NF-kappaB activation. It localizes to the cytoplasm and may function as a scaffold or modulator in innate immune signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IRAK1BP1 Knockout HEK293 Cell Line | EDJ-KQ9348 | Human | 134728 | Details Get a Quote |
| IRAK1BP1 Knockout A-549 Cell Line | EDJ-KQ35987 | Human | 134728 | Details Get a Quote |
| IRAK1BP1 Knockout HCT 116 Cell Line | EDJ-KQ35988 | Human | 134728 | Details Get a Quote |
| IRAK1BP1 Knockout HeLa Cell Line | EDJ-KQ35989 | Human | 134728 | Details Get a Quote |
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