AIF1L
Allograft Inflammatory Factor 1 Like
Gene Information Card
| Symbol | AIF1L |
|---|---|
| Full Name | Allograft Inflammatory Factor 1 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 83543 ncbi.nlm.nih.gov/gene/83543 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q9BQI0 |
| OMIM ID | 616622 |
| HGNC ID | 26136 |
| Aliases | AIF-1L, IBA2, IBA-2 |
Description
AIF1L (Allograft Inflammatory Factor 1 Like) is a protein-coding gene located on chromosome 9q34.13. It encodes a protein similar to allograft inflammatory factor 1 (AIF1), which is involved in immune response and actin cytoskeleton remodeling. AIF1L is expressed in various tissues and may play a role in macrophage activation and cell migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Spleen | 6.1 | Low |
| Liver | 2.4 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.5 | Moderate expression |
| HeLa | 4.2 | Low expression |
| K562 | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • calcium ion binding |
| • identical protein binding | • actin filament binding |
Pathways
• Regulation of actin cytoskeleton
• Fc gamma R-mediated phagocytosis
Protein Summary
The AIF1L protein is a 147-amino acid polypeptide with a molecular weight of approximately 16.7 kDa. It contains an EF-hand domain and shares homology with AIF1. AIF1L is involved in actin cytoskeleton dynamics and may modulate immune cell function. Its expression is detected in multiple tissues, with highest levels in spleen and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AIF1L Knockout HEK293 Cell Line | EDJ-KQ9856 | Human | 83543 | Details Get a Quote |
| AIF1L Knockout HeLa Cell Line | EDJ-KQ35513 | Human | 83543 | Details Get a Quote |
| AIF1L Knockout A-549 Cell Line | EDJ-KQ36720 | Human | 83543 | Details Get a Quote |
| AIF1L Knockout HCT 116 Cell Line | EDJ-KQ36721 | Human | 83543 | Details Get a Quote |
