APOL1 (apolipoprotein L1)

APOL1, also known as apolipoprotein L1, is a minor apoprotein component of HDL (High-density lipoprotein) or 'good cholesterol' which is synthesized in the liver and also in many other tissues, including pancreas, kidney, and brain. APOL1 belongs to the apolipoprotein L family. It may play a role in lipid exchange and transport throughout the body. It may also participate in reverse cholesterol transport from peripheral cells to the liver. Defects in APOL1 are the cause of focal segmental glomerulosclerosis type 4 (FSGS4). It is a renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.

APOL1 (apolipoprotein L1) Related Areas

Cardiovascular>>Lipid Metabolism>> APOL1 / apolipoprotein L1

APOL1 (apolipoprotein L1) Alternative Names

RP1-68O2.2, APO-L, APOL, APOL-I, FSGS4, apolipoprotein L1 [Homo sapiens]

Summaries for APOL1 (apolipoprotein L1)

Entrez Gene summary for APOL1 (apolipoprotein L1):

APOL1 gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member 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. Several different transcript variants encoding different isoforms have been found for APOL1 gene. [provided by RefSeq, Nov 2008]

OMIM - description for APOL1 (apolipoprotein L1):

The APOL1 gene encodes apolipoprotein L-I (apoL-I), a human-specific serum apolipoprotein bound to high-density lipoprotein (HDL) particles (summary by Perez-Morga et al., 2005). This apolipoprotein kills the African trypanosome Trypanosoma brucei brucei, except subspecies adapted to humans (T. b. rhodesiense, T. b. gambiense). Genovese et al. (2010) found that APOL1 carrying African population-specific mutations can lyse T. b. rhodesiense; these mutations were also associated with increased susceptibility to focal segmental glomerulosclerosis in African Americans .

Wikipedia summary for APOL1 (apolipoprotein L1):

APOL1 is the gene which in humans encodes the Apolipoprotein L1 protein.
Apolipoprotein L1 (apoL1) is a minor apoprotein component of HDL (High-density lipoprotein) or 'good cholesterol' which is synthesized in the liver and also in many other tissues, including pancreas, kidney, and brain. Although its intracellular function has not been elucidated, apoL1 circulating in plasma has the ability to kill the trypanosome Trypanosoma brucei that causes sleeping sickness. Two transcript variants encoding two different isoforms have been found for this gene. Recently, two coding sequence variants in APOL1 have been shown to associate with kidney disease in a recessive fashion while at the same time conferring resistance against Trypanosoma brucei rhodesiense. The distribution of the variant most associated with kidney disease risk was analyzed in African populations and found to be more prevalent in western compared to northeast African populations and absent in Ethiopia , consistent with the reported protection from forms of kidney disease known to be associated with the APOL1 variants.

Human APOL1 (apolipoprotein L1) Protein General Information

 

• Protein names: Apolipoprotein L-I
  Short name=ApoL-I
• Sequence length: 398 AA.
• Domain: Signal
• Sequence similarities: Belongs to the apolipoprotein L family.
• Post-translational modification: Phosphorylation sites are present in the extracelllular medium.
• Subunit structure: In plasma, interacts with APOA1 and mainly associated with large high density lipoprotein particles.
• Subcellular location: Secreted.
• Tissue specificity: Plasma. Found on APOA-I-containing high density lipoprotein (HDL3). Expressed in pancreas, lung, prostate, liver, placenta and spleen.
• Involvement in disease: Defects in APOL1 are the cause of focal segmental glomerulosclerosis type 4 (FSGS4) . It is a renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.
• Sequence caution: The sequence AAB81218.2 differs from that shown. Reason: Erroneous initiation.

General information above from UniProt

Function for APOL1 (apolipoprotein L1) Protein

UniProtKB:

APOL1 may play a role in lipid exchange and transport throughout the body. APOL1 may participate in reverse cholesterol transport from peripheral cells to the liver.

Genatlas:

• APOL1 may be participating in reverse cholesterol transport from peripheral cells to the liver
• APOL1 has lipid binding activity that, when overproduced intracellularly, induces autophagic cell death
• APOL1 is BH3-only pro-death protein, which may play a role in cytokine-induced inflammatory response
• APOL1 is lipid-binding protein with high affinity for phosphatidic acid and cardiolipin and less affinity for various phosphoinositides
• APOL1 is serum factor that lyses trypanosomes

Phenotype Information for APOL1 (apolipoprotein L1)

• Gene/Locus: APOL1, FSGS4
• Phenotype: {End-stage renal disease, nondiabetic, susceptibility to}
  {Glomerulosclerosis, focal segmental, 4, susceptibility to}

Phenotype Information for APOL1 (apolipoprotein L1) from OMIM (Online Mendelian Inheritance in Man)