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FLASH GENE
Symbol APOL1 contributors: mct - updated : 16-10-2018
HGNC name apolipoprotein L, 1
HGNC id 618
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • high density lipoprotein
  • conjugated LipoP
    mono polymer aggregate
    HOMOLOGY
    Homologene
    FAMILY
  • APOL family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • may be participating in reverse cholesterol transport from peripheral cells to the liver
  • having lipid binding activity that, when overproduced intracellularly, induces autophagic cell death
  • BH3-only pro-death protein, which may play a role in cytokine-induced inflammatory response
  • lipid-binding protein with high affinity for phosphatidic acid and cardiolipin and less affinity for various phosphoinositides
  • serum factor that lyses trypanosomes
  • APOL1 possesses both extra- and intra-cellular functions crucial in host defense and cellular homeostatic mechanisms
  • role of APOL1 in renal cell carcinoma (RCC) and chronic kidney disease, highlighting the critical function of APOL1 in autophagy
  • APOL1 gene product is toxic to kidney cells, and its G1 and G2 alleles are strongly associated with increased risk for kidney disease progression in African Americans
  • potential pivotal role for mitochondrial dysfunction in APOL1-associated kidney disease
  • APOL1 is an innate immune effector that protects human beings from infection by some trypanosomal parasites
  • role for APOL1 in the development of preeclampsia
  • have important functions in the kidney
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • lipoprotein particles containing AI, AII, AIV, CIII
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • APOL1 stably associates with phospholipid vesicles, requiring low pH and the presence of negatively charged phospholipids for maximal binding
  • UBD modifies APOL1-induced kidney disease risk
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FSGS4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in papillary thyroid carcinoma compared to normal tissue
    Susceptibility
  • to maternal preeclampsia
  • to chronic kidney diseases (CKD)
  • to sickle cell nephropathy (SCN)
  • to systemic lupus erythematosus-associated collapsing glomerulopathy
  • Variant & Polymorphism other
  • APOL1 high-risk status of the fetus is a risk factor for maternal preeclampsia, likely by adversely affecting placental function
  • APOL1 risk variants cause podocytes injury through enhancing endoplasmic reticulum stress, and chronic kidney diseases (CKD)
  • homozygous or double-heterozygous APOL1 G1 and G2 genotypes were strongly associated with end stage renal disease in sickle cell nephropathy
  • APOL1 risk variants associate with systemic lupus erythematosus-associated collapsing glomerulopathy
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS