MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP003592

UniProt Annotations

Entry Information
Gene Nameapolipoprotein L, 1
Protein EntryAPOL1_HUMAN
UniProt IDO14791
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=A; IsoId=O14791-1; Sequence=Displayed; Note=Major isoform.; Name=2; Synonyms=B; IsoId=O14791-2; Sequence=VSP_000292; Name=3; IsoId=O14791-3; Sequence=VSP_045077; Note=No experimental confirmation available.;
DiseaseFocal segmental glomerulosclerosis 4 (FSGS4) [MIM:612551]: 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. {ECO:0000269|PubMed:20635188, ECO:0000269|PubMed:20647424}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMay play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver.
PtmPhosphorylation sites are present in the extracellular medium.
Sequence CautionSequence=AAB81218.2; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the apolipoprotein L family. {ECO:0000305}.
Subcellular LocationSecreted.
SubunitIn plasma, interacts with APOA1 and mainly associated with large high density lipoprotein particles.
Tissue SpecificityPlasma. Found on APOA-I-containing high density lipoprotein (HDL3). Expressed in pancreas, lung, prostate, liver, placenta and spleen.
  logo