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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  African trypanosomiasis   Scavenging of heme from plasma
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
99
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
APOL1-associated kidney disease Conflicting classifications of pathogenicity; risk factor rs73885319, rs60910145 RCV003458390
RCV003458344
APOL1-related disorder Benign; Likely benign rs136175, rs136176, rs136164, rs150685787, rs141898256, rs139494181, rs2146313138, rs371302335, rs368340430, rs781603527, rs765392266, rs762562953, rs760331517, rs149073330, rs136177
View all (2 more)
RCV003980637
RCV003980638
RCV004757471
RCV004757473
RCV003968523
RCV003968539
RCV003893187
RCV004757529
RCV003901202
RCV003896807
RCV003904723
RCV003906957
RCV003906961
RCV003946780
RCV003983211
RCV003960617
RCV003923087
Corticosteroids response drug response rs2016225115 RCV001254661
Familial cancer of breast Benign; Likely benign rs136163 RCV005914040
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 31619724
Acute Kidney Injury Associate 32434723, 34089082, 34240756, 34727096, 35089317, 36630401
Adenocarcinoma of Lung Associate 40649778
adult multisystem inflammatory disease COVID 19 related Associate 37927001
AIDS Associated Nephropathy Associate 21997392, 21997394, 22495294, 22791322, 25788523, 27599995, 30733721, 36227935
Albuminuria Associate 23300552, 25054777, 26180129, 26634651, 27650483, 27711207, 28699644, 29269352, 29899045, 31182139, 31532792, 31563468, 33901548, 35577564
Amyloidosis Hereditary Transthyretin Related Associate 31797629
Amyotrophic Lateral Sclerosis Associate 32792518
Anemia Sickle Cell Associate 21910715, 26206798, 28466968, 28699644, 30557319, 35405207
Angina Pectoris Associate 28850570