Alt. symbols: APOL

Approved name: apolipoprotein L1
Alt. names: apolipoprotein L

Location: 22q12.3: 36253071 - 36267530 (+)
Gene type: protein_coding, 10 transcripts.

Scores: LoFtool: 0.976000 | pLI: 0.00000004 | LOEUF: 1.725

HGNC: 618

NCBI: 8542, RefSeq: NG_023228.1

Ensembl: ENSG00000100342.22

LRG_169 | Status: public

OMIM: 603743

Expression | ProteinAtlas

APOL1 encodes apolipoprotein L1 (apoL1), a minor apoprotein component of HDL (High-density lipoprotein) or 'good cholesterol'. Apol1 is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. Apol1 may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Apol1 is synthesized in the liver and in many other tissues, including pancreas, kidney, and brain, but it is also found in vascular endothelium, liver, heart, lung, placenta, podocytes, proximal tubules, and arterial cells. APOL1 may play a role in the inflammatory response, because pro-inflammatory cytokines interferon-gamma (IFN), tumor necrosis factor-alpha (TNF-alpha) and p53 can increase APOL1 expression (PMID: 18505729). APOL1 has a role in innate immunity by protecting against Trypanosoma brucei infection, which is a parasite transmitted by the tsetse fly. Trypanosomes endocytose the secreted form of APOL1; APOL1 forms pores on the lysosomal membranes of the trypanosomes which causes in influx of chloride, swelling of the lysosome and lysis of the trypanosome.

Specific alleles in APOL1 have been associated with susceptibility to focal segmental glomerulosclerosis 4 (FSG4). In a study on susceptibility to FSG4 in African Americans (PMID:20647424) the authors reported an allele termed G1 (p.S342G, p.I384M), which had a frequency of 52% in FSG cases and 18% in controls. The G1 allele was present in about 40% of Yoruba chromosomes but not in any chromosomes from European, Japanese, or Chinese descent. The authors also identified a second allele termed G2 (deletion of p.N388-Y389), which was present in 3 Yoruban individuals but not in Europeans or individuals of Asian descent. The study showed that human plasma samples and recombinant APOL1 protein carrying the G1 or G2 allele lysed T. b. rhodesiense parasites (normally completely resistant to APOL1 lytic activity), but not T. b. gambiense. Thus, the authors concluded that evolution of a critical survival factor in Africa may have contributed to the high rates of renal disease in African Americans. A subsequent study also reported a G3 haplotype, which was enriched in West African Fulani population and confirmed the presence of the G1 allele in 40% of West African Yoruba population (PMID:23768513).{Glomerulosclerosis, focal segmental, 4, susceptibility to} [MIM:612551] | {End-stage renal disease, nondiabetic, susceptibility to} [MIM:612551] [Load More]