AlphaFold predicted structure
APOL1 · O14791
Mean pLDDT
51.9/ 100
Low
398 residues
Confidence breakdown
- Very high(≥ 90)2%
- Confident(70–90)22%
- Low(50–70)20%
- Very low(< 50)56%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
APOL1
Chr 22q12.3apolipoprotein L1
- MANE:
- ENST00000397278.8
Annotations refreshed 8 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
COVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownProteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalPrimary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownUnexplained kidney failure in young people
Disease associations (Open Targets)
focal segmental glomerulosclerosis
0.66sporadic idiopathic steroid-resistant nephrotic syndrome
0.62glomerulonephritis
0.55chronic kidney disease
0.53kidney disorder
0.53Proteinuria
0.52kidney failure
0.51phosphorus metabolism disease
0.47Nephrotic range proteinuria
0.45secondary hyperparathyroidism of renal origin
0.43
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Apolipoprotein L1
May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver. A component of trypanosome lytic factor of human serum; plays a crucial role in killing Trypanosoma brucei by forming pores in parasite lysosomal membranes and sensitizing T.brucei to oxidation-stimulated osmotic lysis (PubMed:12621437, PubMed:16020735, PubMed:19997494, PubMed:26645690, PubMed:7723792)
Diseases associated with APOL1
Curated MONDO disease pages that list APOL1 among their top associated genes.