Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8542
Gene name Gene Name - the full gene name approved by the HGNC.
Apolipoprotein L1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
APOL1
Synonyms (NCBI Gene) Gene synonyms aliases
APO-L, APOL, APOL-I, FSGS4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FSGS4
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603743 618 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.
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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Focal segmental glomerulosclerosis focal segmental glomerulosclerosis 4, susceptibility to GenCC
Associations from Text Mining
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