From Wikipedia, the free encyclopedia
Jump to: navigation, search
Apolipoprotein L, 1
External IDs OMIM603743 GeneCards: APOL1 Gene
RNA expression pattern
PBB GE APOL1 209546 s at tn.png
More reference expression data
Species Human Mouse
Entrez 8542 n/a
Ensembl ENSG00000100342 n/a
UniProt O14791 n/a
RefSeq (mRNA) NM_001136540 n/a
RefSeq (protein) NP_001130012 n/a
Location (UCSC) Chr 22:
36.65 – 36.66 Mb
PubMed search [1] n/a

APOL1 is the gene which in humans encodes the Apolipoprotein L1 protein.[1][2][3][4]

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.[4] 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.[5] 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,[6] consistent with the reported protection from forms of kidney disease known to be associated with the APOL1 variants.[7]


  1. ^ Duchateau PN, Pullinger CR, Orellana RE, Kunitake ST, Naya-Vigne J, O'Connor PM, Malloy MJ, Kane JP (Nov 1997). "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. doi:10.1074/jbc.272.41.25576. PMID 9325276. 
  2. ^ Page NM, Butlin DJ, Lomthaisong K, Lowry PJ (May 2001). "The human apolipoprotein L gene cluster: identification, classification, and sites of distribution". Genomics 74 (1): 71–8. doi:10.1006/geno.2001.6534. PMID 11374903. 
  3. ^ Perez-Morga D, Vanhollebeke B, Paturiaux-Hanocq F, Nolan DP, Lins L, Homble F, Vanhamme L, Tebabi P, Pays A, Poelvoorde P, Jacquet A, Brasseur R, Pays E (Jul 2005). "Apolipoprotein L-I promotes trypanosome lysis by forming pores in lysosomal membranes". Science 309 (5733): 469–72. doi:10.1126/science.1114566. PMID 16020735. 
  4. ^ a b "Entrez Gene: APOL1 apolipoprotein L, 1". 
  5. ^ Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR. (Jul 2010). "Association of Trypanolytic ApoL1 Variants with Kidney Disease in African-Americans". Science 329 (5993): 841–5. doi:10.1126/science.1193032. PMC 2980843. PMID 20647424. 
  6. ^ Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A, Bekele E, Bradman N, Wasser WG, Behar DM, Skorecki K. (Jul 2010). "Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene". Human Genetics 128 (3): 345–50. doi:10.1007/s00439-010-0861-0. PMC 2921485. PMID 20635188. 
  7. ^ Behar DM, Shlush LI, Maor C, Lorber M, Skorecki K. (2006). "Absence of HIV-associated nephropathy in Ethiopians". Am J Kidney Dis. 47 (1): 88–94. doi:10.1053/j.ajkd.2005.09.023. PMID 16377389. 

Further reading[edit]