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apolipoprotein L1; apoL-I (APOL1, APOL)
Function:
- may play a role in lipid exchange & transport throughout the body
- may participate in reverse cholesterol transport from peripheral cells to the liver
- phosphorylation sites are present in the extracellular medium
- in plasma, interacts with APOA1
- mainly associated with large HDL particles
Structure: belongs to the apolipoprotein L family
Compartment:
- secreted, plasma
- found on APOA1-containing HDL (HDL3)
Alternative splicing: named isoforms=2
Expression:
- expressed in pancreas, lung, prostate, liver, placenta & spleen
- secreted into plasma
Pathology:
- high-risk APOL1 genotype confers risk for chronic renal failure in blacks [4]
- inheritance is autosomal recessive [4]
- high-risk alleles (G1,G2) may confer innate immunity to African trypanosomiasis
- variants of APOL1 may be associated with
- focal segmental glomerulosclerosis
- defects in APOL1 are the cause of focal segmental glomerulosclerosis type 4
- hypertensive nephropathy
- HIV-associated nephropathy [3]
General
apolipoprotein L
glycoprotein
phosphoprotein
Properties
SIZE: entity length = 398 aa
MW = 44 kD
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-27}
N-glycosylation site {N261}
Ser phosphorylation site {S311}
Ser phosphorylation site {S314}
Database Correlations
OMIM correlations
MORBIDMAP 603743
UniProt O14791
Pfam PF05461
Entrez Gene 8542
Kegg hsa:8542
References
- UniProt :accession O14791
- Entrez Gene :accession 8542
- Pollak MR, Genovese G, Friedman DJ.
APOL1 and kidney disease.
Curr Opin Nephrol Hypertens. 2012 Mar;21(2):179-82. Review.
PMID: 22257798
- Medical Knowledge Self Assessment Program (MKSAP) 18, 19
American College of Physicians, Philadelphia 2018, 2021