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FLASH GENE
Symbol APOL1 contributors: mct - updated : 16-10-2018
HGNC name apolipoprotein L, 1
HGNC id 618
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas    
Reproductivefemale systemplacenta    Homo sapiens
Urinarykidneynephronrenal capsuleglomerulus  Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
skeletonsynovium   
cells
SystemCellPubmedSpeciesStageRna symbol
Urinarypodocyte Homo sapiens
cell lineage
cell lines
fluid/secretion plasma
at STAGE
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