Gene Gene information from NCBI Gene database.
Entrez ID 8542
Gene name Apolipoprotein L1
Gene symbol APOL1
Synonyms (NCBI Gene)
APO-LAPOLAPOL-IFSGS4
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 an
SNPs SNP information provided by dbSNP.
5
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 miRNA information provided by mirtarbase database.
579
miRTarBase ID miRNA Experiments Reference
MIRT690968 hsa-miR-122-3p HITS-CLIP 23313552
MIRT690967 hsa-miR-1306-5p HITS-CLIP 23313552
MIRT690966 hsa-miR-6890-3p HITS-CLIP 23313552
MIRT690965 hsa-miR-6840-3p HITS-CLIP 23313552
MIRT690964 hsa-miR-1915-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
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 IEA
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IDA 17192540
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603743 618 ENSG00000100342
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
PDB 7L6K , 7LF7 , 7LFA , 7LFB , 7LFD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05461 ApoL 78 392 Apolipoprotein L Family
Tissue specificity TISSUE SPECIFICITY: Plasma. Found on APOA-I-containing high density lipoprotein (HDL3). Expressed in pancreas, lung, prostate, liver, placenta and spleen.
Sequence
Sequence length 398
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
APOL1-associated kidney disease Conflicting classifications of pathogenicity; risk factor ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
APOL1-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CALCIUM METABOLIC DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 32792518 Associate
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 29357419, 31116585
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 21910715, 26206798, 28466968, 28699644, 30557319, 35405207 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 21910715, 26147622, 26206798, 28466968, 28699644, 31158233
★☆☆☆☆
Found in Text Mining only
Angina Pectoris Angina pectoris Pubtator 28850570 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 28850570 Associate
★☆☆☆☆
Found in Text Mining only
Arterial Occlusive Diseases Arterial occlusive disease Pubtator 30287079 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 23766536, 25054777, 25887069, 26634651, 26966015, 27157696, 29042080, 29113983
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 23766536, 24379297, 25054777, 25887069, 26634651, 26966015, 27157696, 29042080, 29113983
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 24379297, 26634651, 27157696, 28850570, 29269352 Associate
★☆☆☆☆
Found in Text Mining only