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    APOL1 apolipoprotein L1 [ Homo sapiens (human) ]

    Gene ID: 8542, updated on 18-Aug-2016
    Official Symbol
    APOL1provided by HGNC
    Official Full Name
    apolipoprotein L1provided by HGNC
    Primary source
    HGNC:HGNC:618
    See related
    Ensembl:ENSG00000100342 HPRD:04774; MIM:603743; Vega:OTTHUMG00000030427
    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]
    Orthologs
    Location:
    22q13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (36253071..36267531)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (36649117..36663577)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene apolipoprotein L4 Neighboring gene apolipoprotein L2 Neighboring gene microRNA 6819 Neighboring gene myosin heavy chain 9 Neighboring gene uncharacterized LOC105377199

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

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

    NHGRI GWAS Catalog

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

    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

    • African trypanosomiasis, organism-specific biosystem (from KEGG)
      African trypanosomiasis, organism-specific biosystemTrypanosoma brucei, the parasite responsible for African trypanosomiasis (sleeping sickness), are spread by the tsetse fly in sub-Saharan Africa. The parasites are able to pass through the blood-brai...
    • African trypanosomiasis, conserved biosystem (from KEGG)
      African trypanosomiasis, conserved biosystemTrypanosoma brucei, the parasite responsible for African trypanosomiasis (sleeping sickness), are spread by the tsetse fly in sub-Saharan Africa. The parasites are able to pass through the blood-brai...
    • Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystem (from REACTOME)
      Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystemScavenger receptors bind free extracellular ligands as the initial step in clearance of the ligands from the body (reviewed in Ascenzi et al. 2005, Areschoug and Gordon 2009, Nielsen et al. 2010). So...
    • Scavenging of heme from plasma, organism-specific biosystem (from REACTOME)
      Scavenging of heme from plasma, organism-specific biosystemFree heme is damaging to tissues as it intercalates into biologic membranes, perturbing lipid bilayers and promoting the conversion of low-density lipoprotein to cytotoxic oxidized products. Moreover...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chloride channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    chloride transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cytolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    killing of cells of other organism IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipid transport IEA
    Inferred from Electronic Annotation
    more info
     
    lipoprotein metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    high-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intrinsic component of membrane IC
    Inferred by Curator
    more info
    PubMed 
    very-low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    apolipoprotein L1
    Names
    apolipoprotein L 1
    apolipoprotein L, 1

    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_001136540.1NP_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, DC367266, Z82215
      Consensus CDS
      CCDS13926.1
      UniProtKB/Swiss-Prot
      O14791
      Related
      ENSP00000411507, ENST00000422706
      Conserved Domains (1) summary
      pfam05461
      Location:78392
      ApoL; Apolipoprotein L
    2. NM_001136541.1NP_001130013.1  apolipoprotein L1 isoform c

      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, DC367266, Z82215
      Consensus CDS
      CCDS46702.1
      UniProtKB/Swiss-Prot
      O14791
      Related
      ENSP00000388477, ENST00000426053
      Conserved Domains (1) summary
      pfam05461
      Location:74374
      ApoL; Apolipoprotein L
    3. NM_003661.3NP_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, DC367266, Z82215
      Consensus CDS
      CCDS13926.1
      UniProtKB/Swiss-Prot
      O14791
      UniProtKB/TrEMBL
      Q2KHQ6
      Related
      ENSP00000380448, OTTHUMP00000197952, ENST00000397278, OTTHUMT00000319100
      Conserved Domains (1) summary
      pfam05461
      Location:78392
      ApoL; Apolipoprotein L
    4. NM_145343.2NP_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)
      AK296099, BC017331, DA375861, DC367266, Z82215
      Consensus CDS
      CCDS13925.1
      UniProtKB/TrEMBL
      B1AH95
      Related
      ENSP00000317674, OTTHUMP00000028705, ENST00000319136, OTTHUMT00000075315
      Conserved Domains (1) summary
      pfam05461
      Location:108408
      ApoL; Apolipoprotein L

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      36253071..36267531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261796.3XP_005261853.1  

      See identical proteins and their annotated locations for XP_005261853.1

      UniProtKB/Swiss-Prot
      O14791
      Conserved Domains (1) summary
      pfam05461
      Location:74374
      ApoL; Apolipoprotein L
    2. XM_011530478.2XP_011528780.1  

      Conserved Domains (1) summary
      pfam05461
      Location:1271
      ApoL; Apolipoprotein L

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      36608199..36622657
      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.