APOL1

APOL1
Identifiers
Aliases	APOL1, APO-L, APOL, APOL-I, FSGS4, apolipoprotein L1
External IDs	OMIM: 607254 GeneCards: APOL1
Gene ontology Molecular function • protein binding • chloride channel activity • lipid binding Cellular component • extracellular region • intrinsic component of membrane • blood microparticle • very-low-density lipoprotein particle • high-density lipoprotein particle • extracellular space • endoplasmic reticulum lumen Biological process • transport • lipoprotein metabolic process • steroid metabolic process • lipid transport • innate immune response • cholesterol metabolic process • cytolysis • receptor-mediated endocytosis • killing of cells of other organism • lipid metabolic process • post-translational protein modification • cellular protein metabolic process • chloride transmembrane transport Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8542	n/a
Ensembl	ENSG00000100342	n/a
UniProt	O14791	n/a
RefSeq (mRNA)	NM_001136540 NM_001136541 NM_003661 NM_145343 NM_145344	n/a
RefSeq (protein)	NP_001130012 NP_001130013 NP_003652 NP_663318	n/a
Location (UCSC)	Chr 22: 36.25 – 36.27 Mb	n/a
PubMed search		n/a

8542

n/a

ENSG00000100342

n/a

O14791

n/a

NM_001136540
NM_001136541
NM_003661
NM_145343
NM_145344

n/a

NP_001130012
NP_001130013
NP_003652
NP_663318

n/a

Apolipoprotein L1 is a protein that in humans is encoded by the APOL1 gene. Two transcript variants encoding two different isoforms have been found for this gene.

This gene is only found in humans, African green monkeys, and gorillas.

The gene that encodes the APOL1 protein is 14,522 base pairs long and found on the human chromosome 22, on the long arm at position 13.1 from base pair 36,253,070 to base pair 36,267,530.

The protein is a 398 amino acid protein. It consists of 5 functional domains:

Two coding variants, G1 and G2, have been recently identified with relevance to human phenotypes. The G1 is a pair of two non-synonymous single nucleotide polymorphisms (SNPs) in almost complete linkage disequilibrium. G2 is an in-frame deletion of the two amino acid residues, N388 and Y389.

Apolipoprotein L1 (apoL1) is a minor apoprotein component of HDL (High-density lipoprotein) or 'good cholesterol' which is synthesized in the liver and also in many other tissues, including pancreas, kidney, and brain. APOL1 is found in vascular endothelium, liver, heart, lung, placenta, podocytes, proximal tubules, and arterial cells. The protein has a secreted form that allows it to circulate in the blood. It forms a complex with high-density lipoprotein 3 (HDL3) particles that also contain apolipoprotein A1 (APOA1) and the hemoglobin-binding, haptoglobin-related protein (HPR). It is a member of a family of apolipoproteins which consists of 6 other proteins and it is a member of bcl2 genes which are involved in autophagic cell death. In fact an overabundance of APOL1 within a cell results in autophagy.

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Wikipedia