RBCC Red Blood Cell Collection

APOL1_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: APOL1 , APOL
Protein names and data: APOL1_HUMAN , Apolipoprotein L1 , Apolipoprotein L; Apo-L; ApoL; Apolipoprotein L-I; ApoL-I; Flags: Precursor Lenght: 398 a.a.
Mass: 43974 Da
fasta formatted sequence
Function: May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver.
Disease: ( OMIM: 603743 612551 ) Focal 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Secreted.
Tissue specificity: Plasma. Found on APOA-I-containing high density lipoprotein (HDL3). Expressed in pancreas, lung, prostate, liver, placenta and spleen.

Genetic variants

150 - 150 E -> K (in dbSNP:rs2239785). VAR_011383 2239785
188 - 188 I -> T (in a breast cancer sample; somatic mutation). VAR_036568
228 - 228 M -> I (in dbSNP:rs136175). VAR_011384 136175
255 - 255 R -> K (in dbSNP:rs136176). VAR_011385 136176
337 - 337 D -> N (in dbSNP:rs16996616). VAR_046641 16996616
342 - 342 S -> G (in FSGS4; dbSNP:rs73885319). VAR_063598 73885319
384 - 384 I -> M (in FSGS4; dbSNP:rs60910145). VAR_061995 60910145

Database cross-references

UniProt: O14791
Ensembl: ENST00000319136
Ensembl: ENST00000397278
Ensembl: ENST00000397279
Ensembl: ENST00000422706
Ensembl: ENST00000426053
MIM: 603743
MIM: 612551
neXtProt: NX_O14791
Antibodypedia: O14791 (may not find the protein thus also not any antibody)
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