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APOL1 apolipoprotein L1 [ Homo sapiens (human) ]

Gene ID: 8542, updated on 17-Jun-2018
Official Symbol
APOL1provided by HGNC
Official Full Name
apolipoprotein L1provided by HGNC
Primary source
HGNC:HGNC:618
See related
Ensembl:ENSG00000100342 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]
Expression
Ubiquitous expression in liver (RPKM 56.2), urinary bladder (RPKM 39.7) and 21 other tissues See more
Orthologs
See APOL1 in Genome Data Viewer
Location:
22q12.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC112268296 Neighboring gene microRNA 6819 Neighboring gene myosin heavy chain 9 Neighboring gene uncharacterized LOC105377199

  • Project title: 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 Jun 15 11:32:44 2016

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

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

  • 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 IBA
Inferred from Biological aspect of Ancestor
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
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
chloride transmembrane transport IDA
Inferred from Direct Assay
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
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
receptor-mediated endocytosis TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
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 L1-B3

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
    ENSP00000411507.1, ENST00000422706.5
    Conserved Domains (1) summary
    pfam05461
    Location:92392
    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
    ENSP00000388477.1, ENST00000426053.5
    Conserved Domains (1) summary
    pfam05461
    Location:74374
    ApoL; Apolipoprotein L
  3. NM_001362927.1NP_001349856.1  apolipoprotein L1 isoform C

    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)
    BC017331, Z82215
    Consensus CDS
    CCDS46702.1
    Conserved Domains (1) summary
    pfam05461
    Location:74374
    ApoL; Apolipoprotein L
  4. 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
    ENSP00000380448.3, OTTHUMP00000197952, ENST00000397278.7, OTTHUMT00000319100
    Conserved Domains (1) summary
    pfam05461
    Location:92392
    ApoL; Apolipoprotein L
  5. 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
    ENSP00000317674.4, OTTHUMP00000028705, ENST00000319136.8, OTTHUMT00000075315
    Conserved Domains (1) summary
    pfam05461
    Location:108408
    ApoL; Apolipoprotein L

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005261796.3XP_005261853.1  apolipoprotein L1 isoform X1

    UniProtKB/Swiss-Prot
    O14791
    Conserved Domains (1) summary
    pfam05461
    Location:74374
    ApoL; Apolipoprotein L
  2. XM_011530478.2XP_011528780.1  apolipoprotein L1 isoform X2

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

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.
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