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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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APOL1
apolipoprotein L1
Chromosome 22 · 22q12.3
NCBI Gene: 8542Ensembl: ENSG00000100342.22HGNC: HGNC:618UniProt: B1AH95
318PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615protein bindinglipid bindinghigh-density lipoprotein particlefocal segmental glomerulosclerosissporadic idiopathic steroid-resistant nephrotic syndromeglomerulonephritischronic kidney disease
✦AI Summary

APOL1 (apolipoprotein L1) is a serum protein with dual roles in innate immunity and lipid transport. As a component of trypanosome lytic factor, APOL1 kills Trypanosoma brucei by forming pores in parasite lysosomal membranes and inducing osmotic lysis 1. This trypanolytic function provided selective advantage in African populations, with certain APOL1 variants conferring parasite resistance 1. However, these protective APOL1 risk variants (G1 and G2 alleles) significantly increase susceptibility to kidney disease in individuals of African ancestry 2. Risk variants are associated with focal segmental glomerulosclerosis (FSGS), hypertension-associated end-stage kidney disease (ESKD), HIV-associated nephropathy, and collapsing glomerulopathy 23. The pathogenic mechanism involves interferon-γ-mediated induction of APOL1 expression in podocytes and endothelial cells, triggering pyroptotic cell death and vascular injury 4. In endothelial cells, APOL1 risk variants activate STING-mediated signaling and endothelin-1 production, leading to hypertension 5. Viral infections including COVID-19 and HIV amplify this inflammatory pathway, accelerating kidney disease progression 46. Clinical management requires identification of high-risk APOL1 genotypes and consideration of interferon/APOL1-targeted therapeutics.

Sources cited
1
APOL1 risk variants increase rates of hypertension-associated ESKD, FSGS, HIV-associated nephropathy, and other nondiabetic kidney disease in individuals of African ancestry
PMID: 32616495
2
APOL1 functions as a trypanolytic factor forming membrane pores in trypanosomes; variants in African individuals counteract parasite resistance factors but are associated with chronic kidney disease
PMID: 36055769
3
Interferon-γ induces APOL1 expression and pyroptotic endothelial cell death; IFN-γ blockade prevents APOL1 expression and rescues vascular networks
PMID: 38838223
4
APOL1 upregulation in podocytes carrying high-risk genotypes is central to collapsing glomerulopathy pathogenesis involving inflammatory and interferon signaling
PMID: 39084754
5
APOL1 risk variants activate STING and endothelin-1 signaling in endothelial and podocytes, causing hypertension and kidney disease; endothelin inhibition provides protection
PMID: 41376591
6
COVID-19 infection triggers collapsing glomerulopathy in patients with high-risk APOL1 genotypes, predominantly affecting individuals of African ancestry
PMID: 33214201
Disease Associationsⓘ21
focal segmental glomerulosclerosisOpen Targets
0.71Strong
sporadic idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.57Moderate
glomerulonephritisOpen Targets
0.54Moderate
chronic kidney diseaseOpen Targets
0.54Moderate
kidney diseaseOpen Targets
0.53Moderate
ProteinuriaOpen Targets
0.52Moderate
kidney failureOpen Targets
0.51Moderate
phosphorus metabolism diseaseOpen Targets
0.47Moderate
trypanosomiasisOpen Targets
0.46Moderate
Nephrotic range proteinuriaOpen Targets
0.45Moderate
secondary hyperparathyroidism of renal originOpen Targets
0.44Moderate
calcium metabolic diseaseOpen Targets
0.43Moderate
hypertensive heart diseaseOpen Targets
0.43Moderate
mineral metabolism diseaseOpen Targets
0.43Moderate
anemiaOpen Targets
0.43Moderate
renal dialysisOpen Targets
0.43Moderate
steroid-resistant nephrotic syndromeOpen Targets
0.42Moderate
Sickled erythrocytesOpen Targets
0.42Moderate
hyperparathyroidismOpen Targets
0.40Moderate
parathyroid diseaseOpen Targets
0.40Moderate
Focal segmental glomerulosclerosis 4UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
APOA5Protein interaction94%IGLL5Protein interaction91%APODProtein interaction90%SAA4Protein interaction90%MYH9Protein interaction90%APOFProtein interaction90%
Tissue Expression6 tissues
Liver
100%
Lung
51%
Heart
19%
Ovary
19%
Brain
5%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
APOL1APOA5IGLL5APODSAA4MYH9APOF
PROTEIN STRUCTURE
Preparing viewer…
PDB7LFA · 1.86 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.68LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.16 [0.81–1.68]
RankingsWhere APOL1 stands among ~20K protein-coding genes
  • #1,053of 20,598
    Most Researched318 · top 10%
  • #16,019of 17,882
    Most Constrained (LOEUF)1.68
Genes detectedAPOL1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
APOL1 Nephropathy: From Genetics to Clinical Applications.
PMID: 32616495
Clin J Am Soc Nephrol · 2021
1.00
2
Interferon-γ induces combined pyroptotic angiopathy and APOL1 expression in human kidney disease.
PMID: 38838223
Cell Rep · 2024
0.90
3
The Pathogenesis of African Trypanosomiasis.
PMID: 36055769
Annu Rev Pathol · 2023
0.80
4
APOL1-Risk Genotype Induces Inflammatory and Hypoxic Gene Expression in Donor Kidneys.
PMID: 41010023
Genes (Basel) · 2025
0.72
5
APOL1-Mediated Kidney Disease.
PMID: 38662391
JAMA · 2024
0.70