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APOL1 Gene

protein-coding   GIFtS: 61
GCID: GC22P036649

Apolipoprotein L, 1


(Previous symbol: APOL)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Apolipoprotein L, 11 2     Apo-L3
APOL1 2 3     ApoL3
FSGS42 5     ApoL-I3
APO-L2     Apolipoprotein L3
APOL-I2     Apolipoprotein L-I3
Apolipoprotein L12     

External Ids:    HGNC: 6181   Entrez Gene: 85422   Ensembl: ENSG000001003427   OMIM: 6037435   UniProtKB: O147913   

Export aliases for APOL1 gene to outside databases

Previous GC identifers: GC22P033292 GC22P034920 GC22P034973 GC22P019617


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for APOL1 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 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)

GeneCards Summary for APOL1 Gene:
APOL1 (apolipoprotein L, 1) is a protein-coding gene. Diseases associated with APOL1 include end-stage renal disease, nondiabetic, susceptibility to, and sleeping sickness. GO annotations related to this gene include lipid binding and chloride channel activity. An important paralog of this gene is APOL4.

UniProtKB/Swiss-Prot: APOL1_HUMAN, O14791
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

Gene Wiki entry for APOL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the APOL1 gene promoter:
         Bach1   GR   Brachyury   RREB-1   GR-beta   GR-alpha   Roaz   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPOL1 promoter sequence
   Search Chromatin IP Primers for APOL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APOL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q13.1

APOL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APOL1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P036649:  view genomic region     (about GC identifiers)

Start:
36,649,056 bp from pter      End:
36,663,577 bp from pter
Size:
14,522 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: APOL1_HUMAN, O14791 (See protein sequence)
Recommended Name: Apolipoprotein L1 precursor  
Size: 398 amino acids; 43974 Da
Subunit: In plasma, interacts with APOA1 and mainly associated with large high density lipoprotein particles
Sequence caution: Sequence=AAB81218.2; Type=Erroneous initiation;
Secondary accessions: A5PLQ4 B4DU12 E9PF24 O60804 Q5R3P7 Q5R3P8 Q96AB8 Q96PM4 Q9BQ03
Alternative splicing: 3 isoforms:  O14791-1   O14791-2   O14791-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for APOL1: NX_O14791

Explore proteomics data for APOL1 at MOPED

Post-translational modifications: 

  • Phosphorylation sites are present in the extracellular medium1
  • Glycosylation2 at Thr236, Asn261
  • Modification sites at PhosphoSitePlus

  • See APOL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001130012.1  NP_001130013.1  NP_003652.2  NP_663318.1  

    ENSEMBL proteins: 
     ENSP00000380448   ENSP00000317674   ENSP00000391206   ENSP00000404525   ENSP00000397141  
     ENSP00000391302   ENSP00000392514   ENSP00000392857   ENSP00000411507   ENSP00000388477  
     ENSP00000380449   ENSP00000397625   ENSP00000216178  
    Reactome Protein details: O14791

    APOL1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for APOL1
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    OriGene MassSpec for APOL1
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    GenScript Custom Purified and Recombinant Proteins Services for APOL1
    Novus Biologicals APOL1 Protein
    Novus Biologicals APOL1 Lysates
    Sino Biological Recombinant Protein for APOL1
    Sino Biological Cell Lysate for APOL1
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    Cloud-Clone Corp. Proteins for APOL1

    APOL1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of APOL1
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    ThermoFisher Antibodies for APOL1
    LSBio Antibodies in human, mouse, rat for APOL1

    APOL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for APOL1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for APOL1
    Cloud-Clone Corp. CLIAs for APOL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    APOLIPO: Apolipoproteins

    1 InterPro protein domain:
     IPR008405 ApoL

    Graphical View of Domain Structure for InterPro Entry O14791

    ProtoNet protein and cluster: O14791

    1 Blocks protein domain: IPB008405 Apolipoprotein L

    UniProtKB/Swiss-Prot: APOL1_HUMAN, O14791
    Similarity: Belongs to the apolipoprotein L family


    APOL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APOL1_HUMAN, O14791
    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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005254chloride channel activity IDA16020735
    GO:0005515protein binding IPI12621437
    GO:0008289lipid binding IDA16020735
         
    APOL1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for APOL1:
     Increased HPV18 LCR reporter a  Increased S DNA content, incre  Increased cell number in G2M,  

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APOL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for APOL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APOL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APOL1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat APOL1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate APOL1:
    hsa-miR-136
    SwitchGear 3'UTR luciferase reporter plasmidAPOL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for APOL1
    Predesigned siRNA for gene silencing in human, mouse, rat APOL1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for APOL1

    Clone
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    OriGene clones in human, mouse for APOL1 (see all 21)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): APOL1 (NM_003661)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APOL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APOL1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for APOL1
    Browse ESI BIO Cell Lines and PureStem Progenitors for APOL1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    APOL1_HUMAN, O14791: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome2
    plasma membrane2
    vacuole2
    cytosol1
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA17192540
    GO:0031224intrinsic component of membrane IC16020735
    GO:0034361very-low-density lipoprotein particle IDA17154273
    GO:0034364high-density lipoprotein particle IDA9325276

    APOL1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for APOL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.53
    Scavenging of Heme from Plasma0.53
    2Cholesterol and Sphingolipids transport Recycling to plasma membrane in lung normal and CF
    Cholesterol and Sphingolipids transport Recycling to plasma membrane in lung normal and CF
    3African trypanosomiasis
    African trypanosomiasis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for APOL1
        Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)


    1 Reactome Pathway for APOL1
        Scavenging of heme from plasma


    1 Kegg Pathway  (Kegg details for APOL1):
        African trypanosomiasis


    APOL1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including APOL1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for APOL1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for APOL1 (O147913 ENSP000003176744) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APOA1P026473, ENSP000002368504I2D: score=2 STRING: ENSP00000236850
    IGHMP018713I2D: score=1 
    --ENSP000004182944STRING: ENSP00000418294
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006821chloride transport IDA16020735
    GO:0006869lipid transport IEA--
    GO:0008203cholesterol metabolic process IEA--
    GO:0019835cytolysis IDA12621437
    GO:0031640killing of cells of other organism IDA12621437

    APOL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for APOL1

    2 Novoseek inferred chemical compound relationships for APOL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 25.3 5 19324878 (1), 11374903 (1), 16020735 (1), 17668698 (1)
    cholesterol 2.03 5 10946010 (1), 17668698 (1)



    APOL1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for APOL1 gene (5 alternative transcripts): 
    NM_001136540.1  NM_001136541.1  NM_003661.3  NM_145343.2  NM_145344.1  

    Unigene Cluster for APOL1:

    Apolipoprotein L, 1
    Hs.114309  [show with all ESTs]
    Unigene Representative Sequence: NM_145343
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397278 ENST00000319136(uc003ape.3) ENST00000422471 ENST00000475519
    ENST00000438034 ENST00000439680 ENST00000427990 ENST00000433768 ENST00000431184
    ENST00000422706(uc011amn.1 uc021wom.1 uc003apf.3 uc011amp.2 uc010gwx.3)
    ENST00000426053(uc011amo.2 uc011amq.2) ENST00000397279 ENST00000440669
    ENST00000347595

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat APOL1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate APOL1:
    hsa-miR-136
    SwitchGear 3'UTR luciferase reporter plasmidAPOL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for APOL1
    Predesigned siRNA for gene silencing in human, mouse, rat APOL1
    Clone
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    OriGene clones in human, mouse for APOL1 (see all 21)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): APOL1 (NM_003661)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APOL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APOL1
    Primer
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    OriGene qPCR primer pairs and template standards for APOL1
    OriGene qSTAR qPCR primer pairs in human, mouse for APOL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat APOL1
      QuantiTect SYBR Green Assays in human, mouse, rat APOL1
      QuantiFast Probe-based Assays in human, mouse, rat APOL1

    Additional mRNA sequence: 

    AF019225.2 AF323540.1 AK296099.1 AK298053.1 AK300454.1 AK303919.1 AK309143.1 AK313752.1 
    BC112943.1 BC113867.1 BC114475.1 BC127186.1 BC141823.1 BC142720.1 BC143038.1 BC143039.1 

    14 DOTS entries:

    DT.97780153  DT.100798675  DT.314461  DT.100798676  DT.100766153  DT.435420  DT.91746769  DT.120655220 
    DT.100798674  DT.95275477  DT.75127316  DT.91746766  DT.95152345  DT.120655235 

    Selected AceView cDNA sequences (see all 328):

    AW817138 NM_145344 CA407166 BU584347 AI123651 AW609789 AA457721 BE155763 
    C01172 BU584364 H55279 BU584801 H55288 AW582473 AW817278 BM691318 
    BU584508 BU584498 AA427848 BF446182 BE155757 BF375444 BU584227 NM_003661 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for APOL1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d
    SP1:                                -                             -                                                   
    SP2:                                -                       -     -                                                   
    SP3:                                                        -     -                                                   
    SP4:                                                              -                                                   
    SP5:                                -                                                                                 


    ECgene alternative splicing isoforms for APOL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    APOL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGCAGTTT
    APOL1 Expression
    About this image

    APOL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APOL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.114309

    UniProtKB/Swiss-Prot: APOL1_HUMAN, O14791
    Tissue specificity: Plasma. Found on APOA-I-containing high density lipoprotein (HDL3). Expressed in pancreas,
    lung, prostate, liver, placenta and spleen

        Pathway & Disease-focused RT2 Profiler PCR Array including APOL1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for APOL1
    OriGene qSTAR qPCR primer pairs in human, mouse for APOL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat APOL1
    QuantiTect SYBR Green Assays in human, mouse, rat APOL1
    QuantiFast Probe-based Assays in human, mouse, rat APOL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for APOL1 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    42(a)
    29(a)
    many ↔ many
    many ↔ many
    5(21779188-21779424)
    5(21745647-21750643)
    zebrafish
    (Danio rerio)
    Actinopterygii APOL46
    apolipoprotein L, 4
    11(a)
    1 → many
    3(29825427-29839518) ENSDARG00000073718
            Species with no ortholog for APOL1

    ENSEMBL Gene Tree for APOL1 (if available)
    TreeFam Gene Tree for APOL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for APOL1 gene
    APOL42  APOL62  APOL22  APOL52  APOL32  
    5 SIMAP similar genes for APOL1 using alignment to 36 protein entries:     APOL1_HUMAN (see all proteins):
    APOL2    APOL3    APOL4    APOL6    ApoL6

    APOL1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for APOL1
    PGOHUM00000246322 PGOHUM00000246325


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for APOL1 (see all 568)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs738853191,2,,4
    C,FFocal segmental glomerulosclerosis 4 (FSGS4)4 untested120583345(+) CTGTAA/GGCTTC 8 S G mis14Minor allele frequency- G:0.10WA NA 4672
    rs609101451,2,,4
    C,FFocal segmental glomerulosclerosis 4 (FSGS4)4 untested120583473(+) AACATT/GCTCAA 8 /M /I mis13Minor allele frequency- G:0.09WA NA 3934
    VAR_0365684
    A breast cancer sample4--see VAR_0365682 I T mis40--------
    rs713149741,2
    C,F--20568975(+) TGAGAC/TGAATG 4 -- us2k16Minor allele frequency- T:0.08NA CSA WA EA 364
    rs48214711,2
    C,F,A--20569204(+) gtgtgA/Tctttt 4 -- us2k17Minor allele frequency- T:0.08NA CSA WA 248
    rs1930290161,2
    --20569238(+) GCAGAC/GTAAAC 4 -- us2k10--------
    rs1497243571,2
    --20569327(+) CAACGA/TCCTCT 4 -- us2k10--------
    rs1465625131,2
    --20569340(+) TCTTGC/TCTCAG 4 -- us2k10--------
    rs1413023381,2
    --20569358(+) ATCTGC/TAAAAT 4 -- us2k10--------
    rs48214721,2
    C,F,A,H--20569399(+) GATTAT/CAAAAC 4 -- us2k124Minor allele frequency- C:0.07NA NS EA CSA 2574

    HapMap Linkage Disequilibrium report for APOL1 (36649056 - 36663577 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for APOL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834185CNV Loss17160897
    nsv522931CNV Gain19592680
    esv7844OTHER Inversion19470904

    Human Gene Mutation Database (HGMD): APOL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APOL1
    DNA2.0 Custom Variant and Variant Library Synthesis for APOL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603743   
    OMIM disorders: 612551  
    UniProtKB/Swiss-Prot: APOL1_HUMAN, O14791
  • Focal segmental glomerulosclerosis 4 (FSGS4) [MIM:612551]: A renal pathology defined by the presence of
    segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive
    decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state
    requiring either dialysis therapy or kidney transplantation. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for APOL1 (see all 27):    
    About MalaCards
    end-stage renal disease, nondiabetic, susceptibility to    sleeping sickness    glomerulosclerosis, focal segmental, 4    phencyclidine abuse
    trypanosomiasis    avascular necrosis of the femoral head    sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis    focal segmental glomerulosclerosis
    proteinuria    schizophrenia    sickle cell disease    hyperglycemia
    kidney disease    coronary heart disease    osteoarthritis    breast and colorectal cancer
    hepatitis c    obesity    systemic lupus erythematosus    lupus erythematosus

    2 diseases from the University of Copenhagen DISEASES database for APOL1:
    Sleeping sickness     Kidney disease

    APOL1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for APOL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trypanosomiasis african 84.9 2 15217727 (1), 16896212 (1)
    schizophrenia 23.5 9 11930015 (2), 17502270 (1), 18632255 (1), 19929755 (1) (see all 5)

    Genetic Association Database (GAD): APOL1
    Human Genome Epidemiology (HuGE) Navigator: APOL1 (13 documents)

    Export disorders for APOL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for APOL1 gene, integrated from 10 sources (see all 102):
    (articles sorted by number of sources associating them with APOL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas. Identification, cloning, characterization, and plasma distribution of apolipoprotein L. (PubMed id 9325276)1, 2, 3, 9 Duchateau P.N.... Kane J.P. (J. Biol. Chem. 1997)
    2. The human apolipoprotein L gene cluster: identification, classification, and sites of distribution. (PubMed id 11374903)1, 2, 3, 9 Page N.M.... Lowry P.J. (Genomics 2001)
    3. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. (PubMed id 20647424)1, 2, 4 Genovese G.... Pollak M.R. (Science 2010)
    4. Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene. (PubMed id 20635188)1, 2, 4 Tzur S.... Skorecki K. (Hum. Genet. 2010)
    5. Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene. (PubMed id 11290834)1, 2, 9 Duchateau P.N.... Kane J.P. (J. Lipid Res. 2001)
    6. Apolipoprotein L-I promotes trypanosome lysis by forming pores in lysosomal membranes. (PubMed id 16020735)1, 3, 9 PAcrez-Morga D....Pays E. (Science 2005)
    7. Investigation of the apolipoprotein-L (APOL) gene family and schizophrenia using a novel DNA pooling strategy for public database SNPs. (PubMed id 15949655)1, 4, 9 McGhee K.A....Corvin A. (Schizophr. Res. 2005)
    8. Association of SNPs and haplotypes in APOL1, 2 and 4 with schizophrenia. (PubMed id 18632255)1, 4, 9 Takahashi S....Tsuang M.T. (Schizophr. Res. 2008)
    9. Polymorphisms in the Apolipoprotein L1 gene and their effects on blood lipid and glucose levels in middle age males. (PubMed id 18850207)1, 4, 9 Page N.M....Minihane A.M. (amp 2006)
    10. Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. (PubMed id 20855565)1, 4 Peloso G.M....Brousseau M.E. (J. Lipid Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 8542 HGNC: 618 AceView: APOL1 Ensembl:ENSG00000100342 euGenes: HUgn8542
    ECgene: APOL1 Kegg: 8542 H-InvDB: APOL1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for APOL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for APOL1 gene:
    Search GeneIP for patents involving APOL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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