GeneID: 51


Common Name: APOL1 Type: Gene
Chromosome: 22 (NC_000022.11) Locus: NG_023228.1 (APOL1)
HUGO Symbol: APOL1 Full Name: apolipoprotein L1
Exons: 7 Introns: 6

The APOL1 gene encodes a 43.9 kDa protein, which constitutes the apoprotein part of high-density lipoprotein (HDL). Therefore, it plays a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. The secreted APOL1 protein circulates exclusively in association with plasma lipoproteins, particularly apoA-I-containing lipoproteins. APOL1 is largely bound to HDL3 particles, which contain two other proteins, apolipoprotein A1 (apoA-I) and haptoglobin-related protein, forming a protein complex that functions as a trypanolytic factor. Following endocytosis of the APOL1-containing HDL by bloodstream-form trypanosomes, APOL1 is targeted to the lysosome where its colicin-like pore-forming activity causes osmotic swelling of the lysosome and ultimately death. Polymorphisms in the APOL1 gene that confer protection against trypanosomiasis were also found to be associated with kidney disease in West Africans. The APOL1 G1/G2 variants were associated with urine albumin concentration, proteinuria, glomerular filtration rate, chronic kidney disease, and end-stage renal disease in cohorts with sickle cell nephropathy.

Synonyms: APOL , APO-L , FSGS4 , APOL-I


Sequence Viewer

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Publications / Origin

  1. Duchateau PN, Pullinger CR, Orellana RE, Kunitake ST, Naya-Vigne J, O'Connor PM, Malloy MJ, Kane JP, Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas. Identification, cloning, characterization, and plasma distribution of apolipoprotein L., J. Biol. Chem. , 272(41), 25576-82, 1997 PubMed
  2. Pays E, Vanhollebeke B, Mutual self-defence: the trypanolytic factor story., Microbes Infect. , 10(9), 985-9, 2008 PubMed
  3. Ashley-Koch AE, Okocha EC, Garrett ME, Soldano K, De Castro LM, Jonassaint JC, Orringer EP, Eckman JR, Telen MJ, MYH9 and APOL1 are both associated with sickle cell disease nephropathy., Br. J. Haematol. , 155(3), 386-94, 2011 PubMed
  4. Saraf SL, Zhang X, Shah B, Kanias T, Gudehithlu KP, Kittles R, Machado RF, Arruda JA, Gladwin MT, Singh AK, Gordeuk VR, Genetic variants and cell-free hemoglobin processing in sickle cell nephropathy., Haematologica , 100(10), 1275-84, 2015 PubMed
  5. Dummer PD, Limou S, Rosenberg AZ, Heymann J, Nelson G, Winkler CA, Kopp JB, APOL1 Kidney Disease Risk Variants: An Evolving Landscape., Semin. Nephrol. , 35(3), 222-36, 2015 PubMed
  6. Ejaz S, Transcription and translation of variants., Biosci. Rep. , 37(5), , 2017 PubMed
Created on 2016-04-25 16:55:00, Last reviewed on 2018-08-23 19:03:48 (Show full history)

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