APOL1 (apolipoprotein L1)

Gene

• Entrez ID: 8542
• Gene name: Apolipoprotein L1
• Gene symbol: APOL1
• Synonyms: APO-L, APOL, APOL-I, FSGS4
• Chromosome: 22
• Chromosome location: 22q12.3
• Summary: This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs60910145	T>G	Risk-factor, not-provided, pathogenic	Coding sequence variant, missense variant
rs71785313	TTATAA>-	Risk-factor, pathogenic	Inframe deletion, coding sequence variant
rs73885319	A>G	Risk-factor, not-provided, pathogenic	Coding sequence variant, missense variant
rs1428826948	T>G	Risk-factor	Synonymous variant, coding sequence variant
rs1569534160	A>G	Risk-factor	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT690952	hsa-miR-4279	HITS-CLIP	23313552
MIRT690953	hsa-miR-4284	HITS-CLIP	23313552
MIRT690954	hsa-miR-2276-3p	HITS-CLIP	23313552
MIRT690955	hsa-miR-1976	HITS-CLIP	23313552
MIRT690956	hsa-miR-3653-5p	HITS-CLIP	23313552
MIRT690957	hsa-miR-1304-3p	HITS-CLIP	23313552
MIRT690958	hsa-miR-6741-3p	HITS-CLIP	23313552
MIRT690959	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT690960	hsa-miR-6727-3p	HITS-CLIP	23313552
MIRT690961	hsa-miR-4722-3p	HITS-CLIP	23313552
MIRT690962	hsa-miR-4726-3p	HITS-CLIP	23313552
MIRT690963	hsa-miR-6764-5p	HITS-CLIP	23313552
MIRT690964	hsa-miR-1915-3p	HITS-CLIP	23313552
MIRT690965	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT690966	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT690967	hsa-miR-1306-5p	HITS-CLIP	23313552
MIRT690968	hsa-miR-122-3p	HITS-CLIP	23313552

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005254	Function	Chloride channel activity	IDA	16020735
GO:0005515	Function	Protein binding	IPI	12621437, 22582013, 25416956
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	17192540
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0006898	Process	Receptor-mediated endocytosis	TAS
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008289	Function	Lipid binding	IBA	21873635
GO:0008289	Function	Lipid binding	IDA	16020735
GO:0031224	Component	Intrinsic component of membrane	IC	16020735
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	17154273
GO:0034364	Component	High-density lipoprotein particle	IDA	9325276
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0043687	Process	Post-translational protein modification	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0045087	Process	Innate immune response	IDA	17192540
GO:0051838	Process	Cytolysis by host of symbiont cells	IDA	12621437, 17192540
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:1902476	Process	Chloride transmembrane transport	IDA	16020735

Other IDs

• MIM: 603743
• HGNC: 618
• e!Ensembl: ENSG00000100342

Protein

• UniProt ID: O14791
• Protein name: Apolipoprotein L1 (Apolipoprotein L) (Apo-L) (ApoL) (Apolipoprotein L-I) (ApoL-I)
• Protein 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05461	ApoL	78 → 392	Apolipoprotein L	Family

• Sequence:

  MEGAALLRVSVLCIWMSALFLGVGVRAEEAGARVQQNVPSGTDTGDPQSKPLGDWAAGTM
  DPESSIFIEDAIKYFKEKVSTQNLLLLLTDNEAWNGFVAAAELPRNEADELRKALDNLAR
  QMIMKDKNWHDKGQQYRNWFLKEFPRLKSELEDNIRRLRALADGVQKVHKGTTIANVVSG
  SLSISSGILTLVGMGLAPFTEGGSLVLLEPGMELGITAALTGITSSTMDYGKKWWTQAQA
  HDLVIKSLDKLKEVREFLGENISNFLSLAGNTYQLTRGIGKDIRALRRARANLQSVPHAS
  ASRPRVTEPISAESGEQVERVNEPSILEMSRGVKLTDVAPVSFFLVLDVVYLVYESKHLH
  EGAKSETAEELKKVAQELEEKLNILNNNYKILQADQEL

• Sequence length: 398