AIF1 (Allograft Inflammatory Factor 1) Gene
AIF1: A Key Regulator of Immune Response and Inflammation
Gene Information Card
| Symbol | AIF1 |
|---|---|
| Full Name | Allograft Inflammatory Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 199 ncbi.nlm.nih.gov/gene/199 |
| Ensembl ID | ENSG00000204472 |
| UniProt ID | P55008 |
| OMIM ID | 601833 |
| HGNC ID | 352 |
| Aliases | Iba1, AIF-1, G1, IRT-1 |
Description
The AIF1 (allograft inflammatory factor 1) gene encodes a 17 kDa cytoplasmic protein that is predominantly expressed in macrophages and microglia. It acts as a calcium-binding protein and plays a critical role in immune activation, cytoskeletal rearrangement, and phagocytosis. AIF1 is upregulated during inflammation and is a key marker for activated microglia in the central nervous system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | AIF1 overexpression in synovial macrophages promotes pro-inflammatory cytokine production and joint destruction. | NCBI Gene, OMIM |
| Systemic Lupus Erythematosus | Polymorphisms in AIF1 are associated with increased susceptibility and altered immune cell activation. | NCBI Gene, OMIM |
| Glioblastoma | AIF1 expression in tumor-associated microglia/macrophages correlates with tumor progression and poor prognosis. | NCBI Gene, COSMIC |
| Alzheimer's Disease | AIF1-positive activated microglia accumulate around amyloid plaques, contributing to neuroinflammation. | NCBI Gene, OMIM |
| Atherosclerosis | AIF1 in macrophages promotes foam cell formation and vascular inflammation. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 45.2 | High |
| Lung | 32.8 | High |
| Blood | 28.5 | High |
| Brain | 15.3 | Medium |
| Liver | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 62.4 | High expression after PMA-induced differentiation |
| U937 (macrophage) | 55.1 | Constitutive expression |
| SH-SY5Y (neuronal) | 2.3 | Low baseline expression |
| HEK293 (embryonic kidney) | 1.5 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2269475 (c.237G>A) | Missense (p.Val79Ile) | 0.05 (global) | Altered protein stability and immune function |
| rs2736182 (c.348C>T) | Synonymous | 0.12 | No known functional effect |
| rs4711274 (intronic) | Intronic variant | 0.08 | Associated with autoimmune disease risk |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in AIF1.
Gain of Function (GOF)
Overexpression of wild-type AIF1 is associated with enhanced inflammatory responses.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • actin binding |
| • immune system process | • inflammatory response |
| • phagocytosis | • cell migration |
| • microglial cell activation |
Pathways
• Toll-like receptor signaling pathway
• Fc gamma R-mediated phagocytosis
• Neuroinflammation and microglial activation
Protein Summary
AIF1 (Iba1) is a 147-amino acid protein with two EF-hand calcium-binding domains. It is highly conserved and functions as an actin-crosslinking protein, regulating membrane ruffling, phagocytosis, and cell motility in macrophages and microglia. Its expression is a hallmark of activated immune cells in inflammation and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AIF1 Knockout HEK293 Cell Line | EDJ-KQ4032 | Human | 199 | Details Get a Quote |
| 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 |
| AIF1 Knockout HeLa Cell Line | EDJ-KQ52586 | Human | 199 | Details Get a Quote |
| AIF1 Knockout A-549 Cell Line | EDJ-KQ61064 | Human | 199 | Details Get a Quote |
| AIF1 Knockout HCT 116 Cell Line | EDJ-KQ69547 | Human | 199 | Details Get a Quote |
