Entity Details

Primary name APOL1
Entity type gene
Source Source Link

Details

PrimaryID8542
RefseqGeneNG_023228
SymbolAPOL1
Nameapolipoprotein L1
Chromosome22
Location22q12.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-21
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsAPOL1_HUMAN

GO terms

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GOName
GO:0005254 chloride channel activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0006869 lipid transport
GO:0006898 receptor-mediated endocytosis
GO:0008203 cholesterol metabolic process
GO:0008289 lipid binding
GO:0031224 intrinsic component of membrane
GO:0034361 very-low-density lipoprotein particle
GO:0034364 high-density lipoprotein particle
GO:0042157 lipoprotein metabolic process
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0045087 innate immune response
GO:0051838 cytolysis by host of symbiont cells
GO:0072562 blood microparticle
GO:1902476 chloride transmembrane transport

Diseases

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Disease IDSourceNameDescription
612551 OMIMFocal segmental glomerulosclerosis 4 (FSGS4)A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
APOL1CDC23BioGRID, IntAct25416956 details
APOL1FAM20CIntAct22582013 details
APOL1APOA1BioGRID9325276 details