• Gene id: 8542

Gene Summary

• Gene Symbol: APOL1   Gene   UCSC   Ensembl
• Aliases: APO-L, APOL, APOL-I, FSGS4
• Gene name: apolipoprotein L1
• Alternate names: apolipoprotein L1, apolipoprotein L 1, apolipoprotein L1-B3,
• Gene location: 22q12.3 (36253070: 36267530)     Exons: 8     NC_000022.11
• Gene summary(Entrez): 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 an
• OMIM: 606534

Protein Summary

• Protein general information: O14791  
  • Name: Apolipoprotein L1 (Apolipoprotein L) (Apo L) (ApoL) (Apolipoprotein L I) (ApoL I)
  • Length: 398  
  • Mass: 43974
  • Tissue specificity: Plasma. Found on APOA-I-containing high density lipoprotein (HDL3). Expressed in pancreas, lung, prostate, liver, placenta and spleen.
• Sequence:

  MEGAALLRVSVLCIWMSALFLGVGVRAEEAGARVQQNVPSGTDTGDPQSKPLGDWAAGTMDPESSIFIEDAIKYF
  KEKVSTQNLLLLLTDNEAWNGFVAAAELPRNEADELRKALDNLARQMIMKDKNWHDKGQQYRNWFLKEFPRLKSE
  LEDNIRRLRALADGVQKVHKGTTIANVVSGSLSISSGILTLVGMGLAPFTEGGSLVLLEPGMELGITAALTGITS
  STMDYGKKWWTQAQAHDLVIKSLDKLKEVREFLGENISNFLSLAGNTYQLTRGIGKDIRALRRARANLQSVPHAS
  ASRPRVTEPISAESGEQVERVNEPSILEMSRGVKLTDVAPVSFFLVLDVVYLVYESKHLHEGAKSETAEELKKVA
  QELEEKLNILNNNYKILQADQEL

• Structural information:
  • Interpro: IPR008405  
  • STRING: ENSP00000317674
• Other Databases: GeneCards:  APOL1  Malacards:  APOL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008289	lipid binding	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0042157	lipoprotein metabolic process	IEA	biological process
GO:0006869	lipid transport	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0034364	high-density lipoprotein particle	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008289	lipid binding	IDA	molecular function
GO:0005254	chloride channel activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:1902476	chloride transmembrane transport	IDA	biological process
GO:0031224	intrinsic component of membrane	IC	cellular component
GO:0051838	cytolysis by host of symbiont cells	IDA	biological process
GO:0051838	cytolysis by host of symbiont cells	IDA	biological process
GO:0045087	innate immune response	IDA	biological process
GO:0034361	very-low-density lipoprotein particle	IDA	cellular component
GO:0034364	high-density lipoprotein particle	IDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0072562	blood microparticle	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05143	African trypanosomiasis

Diseases

Associated diseases	References
Focal segmental glomerulosclerosis	KEGG:H00626
Focal segmental glomerulosclerosis	KEGG:H00626
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R