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    APOL1 apolipoprotein L1 [ Homo sapiens (human) ]

    Gene ID: 8542, updated on 2-Nov-2024

    Summary

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    Official Symbol
    APOL1provided by HGNC
    Official Full Name
    apolipoprotein L1provided by HGNC
    Primary source
    HGNC:HGNC:618
    See related
    Ensembl:ENSG00000100342 MIM:603743; AllianceGenome:HGNC:618
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APOL; APO-L; FSGS4; APOL-I
    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]
    Expression
    Ubiquitous expression in liver (RPKM 56.2), urinary bladder (RPKM 39.7) and 21 other tissues See more
    Orthologs
    all
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    Genomic context

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    See APOL1 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36253133..36267525)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (36713249..36727639)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (36649179..36663571)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr22:36586149-36586650 Neighboring gene Sharpr-MPRA regulatory region 479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36597831-36598330 Neighboring gene apolipoprotein L4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18917 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36623209-36623887 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36634500-36635014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18919 Neighboring gene apolipoprotein L2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36651041-36651540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36654247-36655038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36682442-36682954 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201 Neighboring gene microRNA 6819 Neighboring gene myosin heavy chain 9 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36723803-36724432 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36724433-36725062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18921 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:36727082-36728281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13664 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:36734293-36734793 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36738402-36738920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36738921-36739438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36739775-36740434 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36749021-36749750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36750200-36750700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36750701-36751201 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36753095-36754036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36758744-36759684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18927 Neighboring gene Sharpr-MPRA regulatory region 8689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36781171-36781884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36781885-36782598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13665 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13666 Neighboring gene Sharpr-MPRA regulatory region 2056 Neighboring gene MYH9 divergent transcript Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36805192-36805812

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Strict blood pressure control associates with decreased mortality risk by APOL1 genotype. Ku E, et al. Kidney Int, 2017 Feb. PMID 27927600, Free PMC Article
    2. Apolipoprotein L1 confers pH-switchable ion permeability to phospholipid vesicles. Bruno J, et al. J Biol Chem, 2017 Nov 3. PMID 28918394, Free PMC Article
    3. APOL1 risk alleles among individuals with CKD in Northern Tanzania: A pilot study. Stanifer JW, et al. PLoS One, 2017. PMID 28732083, Free PMC Article
    4. Roles of APOL1 G1 and G2 variants in sickle cell disease patients: kidney is the main target. Kormann R, et al. Br J Haematol, 2017 Oct. PMID 28699644
    5. APOL1 risk variants predict histopathology and progression to ESRD in HIV-related kidney disease. Fine DM, et al. J Am Soc Nephrol, 2012 Feb. PMID 22135313, Free PMC Article

    See all (316) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Interferon-gamma induces combined pyroptotic angiopathy and APOL1 expression in human kidney disease.
      Title: Interferon-γ induces combined pyroptotic angiopathy and APOL1 expression in human kidney disease.
    2. African ancestry-derived APOL1 risk genotypes show proximal epigenetic associations.
      Title: African ancestry-derived APOL1 risk genotypes show proximal epigenetic associations.
    3. Evaluating ApoL1 Genetic Testing Policy Options for Transplant Centers: A Delphi Consensus Panel Project with Stakeholders.
      Title: Evaluating ApoL1 Genetic Testing Policy Options for Transplant Centers: A Delphi Consensus Panel Project with Stakeholders.
    4. IFI16 Is Indispensable for Promoting HIF-1alpha-Mediated APOL1 Expression in Human Podocytes under Hypoxic Conditions.
      Title: IFI16 Is Indispensable for Promoting HIF-1α-Mediated APOL1 Expression in Human Podocytes under Hypoxic Conditions.
    5. Phenome-wide analysis reveals epistatic associations between APOL1 variants and chronic kidney disease and multiple other disorders.
      Title: Phenome-wide analysis reveals epistatic associations between APOL1 variants and chronic kidney disease and multiple other disorders.
    6. Genome-Wide Polygenic Risk Score for CKD in Individuals with APOL1 High-Risk Genotypes.
      Title: Genome-Wide Polygenic Risk Score for CKD in Individuals with APOL1 High-Risk Genotypes.
    7. APOL1-mediated monovalent cation transport contributes to APOL1-mediated podocytopathy in kidney disease.
      Title: APOL1-mediated monovalent cation transport contributes to APOL1-mediated podocytopathy in kidney disease.
    8. HIF-2alpha/LINC02609/APOL1-mediated lipid storage promotes endoplasmic reticulum homeostasis and regulates tumor progression in clear-cell renal cell carcinoma.
      Title: HIF-2α/LINC02609/APOL1-mediated lipid storage promotes endoplasmic reticulum homeostasis and regulates tumor progression in clear-cell renal cell carcinoma.
    9. Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
      Title: Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
    10. Apolipoprotein L1 (APOL1) renal risk variant-mediated podocyte cytotoxicity depends on African haplotype and surface expression.
      Title: Apolipoprotein L1 (APOL1) renal risk variant-mediated podocyte cytotoxicity depends on African haplotype and surface expression.
    Submit: New GeneRIF Correction See all GeneRIFs (294)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Focal segmental glomerulosclerosis 4, susceptibility to
    MedGen: C2675525 OMIM: 612551 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Infectious wild type HIV-1 production is restricted by 293T cells over-expressing APOL1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef APOL1 downregulates the steady-state levels of HIV-1 Vef in cells transfected by HIV-1 clones PubMed
    Pr55(Gag) gag IFN-gamma-stimulated expression of APOL1 in differentiated U937 monocytes contributes to inhibition of HIV-1 Gag/p24 expression PubMed
    gag Inhibition of endocytosis by siRNA-mediated depletion of EPS15, STX7, RAB7, and VAMP7 restores Gag/p24 expression in the presence of APOL1 PubMed
    gag APOL1 downregulates the steady-state levels of HIV-1 Gag and CA by rapid degradation of synthesized Gag and inhibition of Gag expression at the transcriptional level PubMed
    Vif vif Depletion of RAB7A by siRNA results in partial recovery of HIV-1 Vif in the presence of APOL1, suggesting that Vif is partly degraded by a RAB7-dependent pathway PubMed
    vif APOL1 downregulates the steady-state levels of HIV-1 Vif by secretion in microvesicles and lysosomal degradation PubMed
    Vpu vpu APOL1 downregulates the steady-state levels of HIV-1 Vpu in cells transfected by HIV-1 clones PubMed
    capsid gag IFN-gamma-stimulated expression of APOL1 in differentiated U937 monocytes contributes to inhibition of HIV-1 Gag/p24 expression PubMed
    gag Inhibition of endocytosis by siRNA-mediated depletion of EPS15, STX7, RAB7, and VAMP7 restores Gag/p24 expression in the presence of APOL1 PubMed
    gag APOL1 downregulates the steady-state levels of HIV-1 Gag and CA by rapid degradation of synthesized Gag and inhibition of Gag expression at the transcriptional level PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables lipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lipid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cytolysis by host of symbiont cells IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in innate immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipoprotein metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of high-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IC
    Inferred by Curator
    more info
    		 PubMed 
    part_of very-low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    apolipoprotein L1
    Names
    apolipoprotein L 1
    apolipoprotein L1-B3

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023228.1 RefSeqGene

      Range
      5001..19461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_169

    mRNA and Protein(s)

    1. NM_001136540.2 → NP_001130012.1  apolipoprotein L1 isoform a precursor

      See identical proteins and their annotated locations for NP_001130012.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses a different splice site in the 5' UTR, compared to variant 1. Variants 1 and 3 encode the same protein (isoform a).
      Source sequence(s)
      BC017331, BG419709, DC340792, Z82215
      Consensus CDS
      CCDS13926.1
      UniProtKB/Swiss-Prot
      A5PLQ4, B4DU12, E9PF24, O14791, O60804, Q5R3P7, Q5R3P8, Q96AB8, Q96PM4, Q9BQ03
      UniProtKB/TrEMBL
      Q2KHQ6
      Related
      ENSP00000391302.2, ENST00000427990.6
      Conserved Domains (1) summary
      pfam05461
      Location:78 → 392
      ApoL; Apolipoprotein L

    2. NM_001136541.2 → NP_001130013.1  apolipoprotein L1 isoform c precursor

      See identical proteins and their annotated locations for NP_001130013.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame 5' coding segment, compared to variant 1. The resulting protein (isoform c) has a shorter N-terminus when it is compared to isoform a.
      Source sequence(s)
      AK300454, BC017331, Z82215
      Consensus CDS
      CCDS46702.1
      UniProtKB/TrEMBL
      A0A1P8SD62
      Related
      ENSP00000388477.1, ENST00000426053.5
      Conserved Domains (1) summary
      pfam05461
      Location:74 → 374
      ApoL; Apolipoprotein L

    3. NM_001362927.2 → NP_001349856.1  apolipoprotein L1 isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses a different splice site in the 5' UTR and lacks an alternate in-frame 5' coding segment, compared to variant 1. The resulting protein (isoform c) has a shorter N-terminus when it is compared to isoform a.
      Source sequence(s)
      Z82215
      Consensus CDS
      CCDS46702.1
      UniProtKB/TrEMBL
      A0A1P8SD62
      Conserved Domains (1) summary
      pfam05461
      Location:74 → 374
      ApoL; Apolipoprotein L

    4. NM_003661.4 → NP_003652.2  apolipoprotein L1 isoform a precursor

      See identical proteins and their annotated locations for NP_003652.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the predominant protein (isoform a). Variants 1 and 3 encode the same protein (isoform a).
      Source sequence(s)
      BC017331, BC112943, Z82215
      Consensus CDS
      CCDS13926.1
      UniProtKB/Swiss-Prot
      A5PLQ4, B4DU12, E9PF24, O14791, O60804, Q5R3P7, Q5R3P8, Q96AB8, Q96PM4, Q9BQ03
      UniProtKB/TrEMBL
      Q2KHQ6
      Related
      ENSP00000380448.4, ENST00000397278.8
      Conserved Domains (1) summary
      pfam05461
      Location:78 → 392
      ApoL; Apolipoprotein L

    5. NM_145343.3 → NP_663318.1  apolipoprotein L1 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also called splice variant b, includes an alternate in-frame exon in the 5' coding region and utilizes an upstream in-frame start codon compared to variant 1. The encoded protein (isoform b) has a longer N-terminus compared to isoform a.
      Source sequence(s)
      Z82215
      Consensus CDS
      CCDS13925.1
      UniProtKB/TrEMBL
      B2R9E5
      Related
      ENSP00000317674.4, ENST00000319136.8
      Conserved Domains (1) summary
      pfam05461
      Location:108 → 408
      ApoL; Apolipoprotein L

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      36253133..36267525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      36713249..36727639
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145344.1: Suppressed sequence

      Description
      NM_145344.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14791.5 GenPept UniProtKB/Swiss-Prot:O14791

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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