AKIRIN1
Akirin 1, a nuclear factor involved in innate immunity and muscle development
Gene Information Card
| Symbol | AKIRIN1 |
|---|---|
| Full Name | akirin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 79647 ncbi.nlm.nih.gov/gene/79647 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q9H9L3 |
| OMIM ID | 615164 |
| HGNC ID | 25710 |
| Aliases | C1orf108, FBXO28, MGC13170 |
Description
AKIRIN1 encodes a nuclear protein that plays a critical role in innate immune signaling by modulating NF-κB-dependent transcription. It is also essential for myogenesis and muscle regeneration. The protein interacts with the SWI/SNF chromatin remodeling complex to regulate gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory disorders | Dysregulation of NF-κB signaling due to altered AKIRIN1 expression | PMID: 22939622 |
| Muscle atrophy | Impaired myogenesis and regeneration | PMID: 23395171 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Brain | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK 293 | 10.1 | Moderate expression |
| K562 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Unknown functional impact |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential reduction in NF-κB activation
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • nucleus | • chromatin binding |
| • transcription coactivator activity | • innate immune response |
| • positive regulation of NF-κB transcription factor activity | • myoblast differentiation |
Pathways
• NF-κB signaling pathway
• SWI/SNF complex-mediated chromatin remodeling
Protein Summary
AKIRIN1 is a 201-amino-acid nuclear protein that contains a conserved akirin domain. It acts as a cofactor for NF-κB-mediated transcription and is required for proper muscle development. The protein is ubiquitously expressed with highest levels in skeletal muscle and heart.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKIRIN1 Knockout HEK293 Cell Line | EDJ-KQ12321 | Human | 79647 | Details Get a Quote |
| AKIRIN1 Knockout A-549 Cell Line | EDJ-KQ41159 | Human | 79647 | Details Get a Quote |
| AKIRIN1 Knockout HCT 116 Cell Line | EDJ-KQ41160 | Human | 79647 | Details Get a Quote |
| AKIRIN1 Knockout HeLa Cell Line | EDJ-KQ41161 | Human | 79647 | Details Get a Quote |
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