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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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AIF1L
allograft inflammatory factor 1 like
Chromosome 9 · 9q34.12-q34.13
NCBI Gene: 83543Ensembl: ENSG00000126878.14HGNC: HGNC:28904UniProt: Q9BQI0
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
actin filamentextracellular exosomefocal adhesionactin cytoskeletonneurodegenerative diseasebreast cancerobesityHyperlipoproteinemia type 1
✦AI Summary

AIF1L (allograft inflammatory factor 1 like) is an actin-binding protein that plays crucial roles in cytoskeletal organization and cellular contractility. The protein promotes actin bundling and localizes to actin stress fibers, focal adhesion complexes, and the nuclear compartment 1. In podocytes, AIF1L regulates actomyosin contractility and filopodial extensions, with its deletion resulting in increased filopodial formation and decreased contractility 1. The protein interacts with components of the actomyosin machinery including MYL9 and UNC45A, indicating its involvement in stabilizing cell morphology through modulation of membrane dynamics 1. AIF1L expression is tissue-specific, being found in major adipose depots and kidney but notably absent from liver, skeletal muscle, and spleen 2. Functionally, AIF1L appears to regulate ferroptosis in colorectal cancer and is associated with immune-related signaling pathways 3. The gene has been implicated in various cancers, serving as a tumor suppressor in thyroid cancer through the miR-146b-3p pathway 4 and showing altered expression in prostate cancer cells following E2F1 knockdown 5. Despite structural similarity to AIF1, AIF1L knockout mice show no metabolic phenotype, suggesting distinct physiological roles 2.

Sources cited
1
AIF1L is an actin-bundling protein that localizes to stress fibers, focal adhesions, and nucleus, regulating podocyte contractility and filopodial extensions
PMID: 30001384
2
AIF1L is expressed in adipose depots and kidney but absent from liver, skeletal muscle, and spleen; knockout mice show no metabolic phenotype
PMID: 32107417
3
AIF1L regulates ferroptosis in colorectal cancer and is associated with immune-related signaling pathways
PMID: 41113993
4
AIF1L acts as a tumor suppressor in thyroid cancer through miR-146b-3p pathway
PMID: 37610691
5
AIF1L expression is altered in prostate cancer cells following E2F1 knockdown and is associated with actin filament organization
PMID: 31802906
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.31Weak
breast cancerOpen Targets
0.06Suggestive
obesityOpen Targets
0.04Suggestive
Hyperlipoproteinemia type 1Open Targets
0.04Suggestive
hemoglobin H diseaseOpen Targets
0.04Suggestive
esophageal squamous cell carcinomaOpen Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
portal hypertensionOpen Targets
0.04Suggestive
glycoprotein storage diseaseOpen Targets
0.04Suggestive
neuronal ceroid lipofuscinosis 1Open Targets
0.04Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.04Suggestive
acute erythroleukemiaOpen Targets
0.04Suggestive
erythroleukemia, familial, susceptibility toOpen Targets
0.04Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
sea-blue histiocyte syndromeOpen Targets
0.03Suggestive
Sea-blue histiocytosisOpen Targets
0.03Suggestive
Senior-Boichis syndromeOpen Targets
0.03Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.03Suggestive
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.03Suggestive
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiencyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ESPNShared pathway50%LIMD2Shared pathway50%SHROOM1Shared pathway33%ESPNLShared pathway33%CALD1Shared pathway33%MICAL1Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Heart
73%
Bone Marrow
23%
Lung
9%
Ovary
6%
Liver
3%
Gene Interaction Network
Click a node to explore
AIF1LESPNLIMD2SHROOM1ESPNLCALD1MICAL1
PROTEIN STRUCTURE
Preparing viewer…
PDB2JJZ · 2.15 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.10LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.68 [0.43–1.10]
RankingsWhere AIF1L stands among ~20K protein-coding genes
  • #8,905of 20,598
    Most Researched49
  • #11,260of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedAIF1L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome.
PMID: 38898508
Genome Med · 2024
1.00
2
AIF1L regulates actomyosin contractility and filopodial extensions in human podocytes.
PMID: 30001384
PLoS One · 2018
0.90
3
Two novel fusion genes, AIF1L-ETV6 and ABL1-AIF1L, result together with ETV6-ABL1 from a single chromosomal rearrangement in acute lymphoblastic leukemia with prenatal origin.
PMID: 29726059
Genes Chromosomes Cancer · 2018
0.80
4
AIF1L as a Ferroptosis-Linked Biomarker in Microsatellite States-Driven Colorectal Cancer: Functional and Diagnostic Insights From Multiomics Analysis.
PMID: 41113993
Hum Mutat · 2025
0.70
5
Allograft inflammatory factor-1-like is not essential for age dependent weight gain or HFD-induced obesity and glucose insensitivity.
PMID: 32107417
Sci Rep · 2020
0.60