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    APOL3 apolipoprotein L3 [ Homo sapiens (human) ]

    Gene ID: 80833, updated on 27-Nov-2024

    Summary

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    Official Symbol
    APOL3provided by HGNC
    Official Full Name
    apolipoprotein L3provided by HGNC
    Primary source
    HGNC:HGNC:14868
    See related
    Ensembl:ENSG00000128284 MIM:607253; AllianceGenome:HGNC:14868
    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
    CG121; CG12_1; APOLIII; apoL-III
    Summary
    This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
    Expression
    Broad expression in spleen (RPKM 16.1), fat (RPKM 13.1) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See APOL3 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36140323..36166177, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (36600511..36626361, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (36536371..36562225, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RNA binding fox-1 homolog 2 Neighboring gene ribosomal protein L41 pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:36278945-36279446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36312425-36313104 Neighboring gene NADH:ubiquinone oxidoreductase subunit A9 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13660 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:36431275-36432018 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:36448074-36449273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36481448-36482174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36512656-36513156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36513157-36513657 Neighboring gene Sharpr-MPRA regulatory region 8708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36528024-36528524 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:36530251-36531450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36537001-36537502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36537503-36538002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36552799-36553402 Neighboring gene NANOG hESC enhancer GRCh37_chr22:36557722-36558295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18916 Neighboring gene MT-CO1 pseudogene 20 Neighboring gene MT-CO2 pseudogene 20

    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
    • 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. Gene expression analysis in schizophrenia: reproducible up-regulation of several members of the apolipoprotein L family located in a high-susceptibility locus for schizophrenia on chromosome 22. Mimmack ML, et al. Proc Natl Acad Sci U S A, 2002 Apr 2. PMID 11930015, Free PMC Article
    2. Apoliporotein L3 interferes with endothelial tube formation via regulation of ERK1/2, FAK and Akt signaling pathway. Khalil A, et al. Atherosclerosis, 2018 Dec. PMID 30423477
    3. Family-based association analysis of 42 hereditary prostate cancer families identifies the Apolipoprotein L3 region on chromosome 22q12 as a risk locus. Johanneson B, et al. Hum Mol Genet, 2010 Oct 1. PMID 20631155, Free PMC Article
    4. A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy. Skorecki KL, et al. Nephrol Dial Transplant, 2018 Feb 1. PMID 28339911, Free PMC Article
    5. Apolipoprotein L3 enhances CD8+ T cell antitumor immunity of colorectal cancer by promoting LDHA-mediated ferroptosis. Lv Y, et al. Int J Biol Sci, 2023. PMID 36923931, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Apolipoprotein L3 enhances CD8+ T cell antitumor immunity of colorectal cancer by promoting LDHA-mediated ferroptosis.
      Title: Apolipoprotein L3 enhances CD8+ T cell antitumor immunity of colorectal cancer by promoting LDHA-mediated ferroptosis.
    2. A human apolipoprotein L with detergent-like activity kills intracellular pathogens.
      Title: A human apolipoprotein L with detergent-like activity kills intracellular pathogens.
    3. The function of apolipoproteins L (APOLs): relevance for kidney disease, neurotransmission disorders, cancer and viral infection.
      Title: The function of apolipoproteins L (APOLs): relevance for kidney disease, neurotransmission disorders, cancer and viral infection.
    4. APOL1 C-Terminal Variants May Trigger Kidney Disease through Interference with APOL3 Control of Actomyosin.
      Title: APOL1 C-Terminal Variants May Trigger Kidney Disease through Interference with APOL3 Control of Actomyosin.
    5. APOL3 regulates angiogenesis in vitro and functions as a modulator of MAPK and FAK signaling in endothelial cells.
      Title: Apoliporotein L3 interferes with endothelial tube formation via regulation of ERK1/2, FAK and Akt signaling pathway.
    6. A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy.
      Title: A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy.
    7. An association between an single nucleotide polymorphisms within the APOL3 locus and prostate cancer risk, is revealed.
      Title: Family-based association analysis of 42 hereditary prostate cancer families identifies the Apolipoprotein L3 region on chromosome 22q12 as a risk locus.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Family-based association analysis of 42 hereditary prostate cancer families identifies the Apolipoprotein L3 region on chromosome 22q12 as a risk locus.
    10. APOL3 has been found only in humans and African green monkeys
      Title: The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    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)

    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 lipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lipid transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in inflammatory response TAS
    Traceable Author Statement
    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
    		  
    involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    apolipoprotein L3
    Names
    TNF-inducible protein CG12-1
    apolipoprotein L, 3
    apolipoprotein L-III

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001393587.1 → NP_001380516.1  apolipoprotein L3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:20 → 326
      ApoL; Apolipoprotein L

    2. NM_001393588.1 → NP_001380517.1  apolipoprotein L3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:20 → 326
      ApoL; Apolipoprotein L

    3. NM_001393589.1 → NP_001380518.1  apolipoprotein L3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:20 → 326
      ApoL; Apolipoprotein L

    4. NM_001393590.1 → NP_001380519.1  apolipoprotein L3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:20 → 326
      ApoL; Apolipoprotein L

    5. NM_001393591.1 → NP_001380520.1  apolipoprotein L3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:20 → 326
      ApoL; Apolipoprotein L

    6. NM_001393592.1 → NP_001380521.1  apolipoprotein L3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:20 → 326
      ApoL; Apolipoprotein L

    7. NM_001393593.1 → NP_001380522.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    8. NM_001393595.1 → NP_001380524.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    9. NM_001393596.1 → NP_001380525.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    10. NM_001393597.1 → NP_001380526.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    11. NM_001393598.1 → NP_001380527.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    12. NM_001393599.1 → NP_001380528.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    13. NM_001393600.1 → NP_001380529.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    14. NM_001393601.1 → NP_001380530.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    15. NM_001393602.1 → NP_001380531.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    16. NM_001393603.1 → NP_001380532.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    17. NM_001393604.1 → NP_001380533.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    18. NM_001393605.1 → NP_001380534.1  apolipoprotein L3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      Z95114

    19. NM_001393606.1 → NP_001380535.1  apolipoprotein L3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13924.1
      Conserved Domains (1) summary
      pfam05461
      Location:1 → 196
      ApoL; Apolipoprotein L

    20. NM_001393607.1 → NP_001380536.1  apolipoprotein L3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13924.1
      Conserved Domains (1) summary
      pfam05461
      Location:1 → 196
      ApoL; Apolipoprotein L

    21. NM_001393608.1 → NP_001380537.1  apolipoprotein L3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13924.1
      Conserved Domains (1) summary
      pfam05461
      Location:1 → 196
      ApoL; Apolipoprotein L

    22. NM_001393609.1 → NP_001380538.1  apolipoprotein L3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13924.1
      Conserved Domains (1) summary
      pfam05461
      Location:1 → 196
      ApoL; Apolipoprotein L

    23. NM_014349.3 → NP_055164.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha/a) differs in the coding region but maintains the reading frame compared to variant alpha/d. This variant encodes isoform 2, which is shorter and which contains a unique N-terminus compared to isoform 1.
      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    24. NM_030644.2 → NP_085147.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha/b) has multiple differences in the coding region but maintains the reading frame compared to variant alpha/d. This variant encodes isoform 2, which is shorter and which contains a unique N-terminus compared to isoform 1.
      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    25. NM_145639.2 → NP_663614.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha/c) differs in the coding region but maintains the reading frame compared to variant alpha/d. This variant encodes isoform 2, which is shorter and which contains a unique N-terminus compared to isoform 1.
      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      Related
      ENSP00000415779.3, ENST00000424878.4
      Conserved Domains (1) summary
      pfam05461
      Location:19 → 325
      ApoL; Apolipoprotein L

    26. NM_145640.2 → NP_663615.1  apolipoprotein L3 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha/d) encodes the longer isoform (1).
      Source sequence(s)
      AK025349, AY014905, BC038352, BF797347, DA878288
      Consensus CDS
      CCDS13922.1
      UniProtKB/Swiss-Prot
      B1AHI4, B1AHI5, O95236, Q5U5N4, Q9BQ82, Q9BQA3
      Related
      ENSP00000344577.2, ENST00000349314.7
      Conserved Domains (1) summary
      pfam05461
      Location:104 → 396
      ApoL; Apolipoprotein L

    27. NM_145641.3 → NP_663616.1  apolipoprotein L3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta/a) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational start codon, compared to variant alpha/d. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1. Both variants beta/a and beta/b encode the same isoform.
      Source sequence(s)
      AK025349, AY014906, BF797347
      Consensus CDS
      CCDS13924.1
      UniProtKB/Swiss-Prot
      O95236
      Related
      ENSP00000380456.2, ENST00000397287.6
      Conserved Domains (1) summary
      pfam05461
      Location:1 → 196
      ApoL; Apolipoprotein L

    28. NM_145642.3 → NP_663617.1  apolipoprotein L3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta/b) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational start codon, compared to variant alpha/d. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1. Both variants beta/a and beta/b encode the same isoform.
      Source sequence(s)
      AK025349, AY014907, BF797347
      Consensus CDS
      CCDS13924.1
      UniProtKB/Swiss-Prot
      O95236
      Related
      ENSP00000355164.2, ENST00000361710.6
      Conserved Domains (1) summary
      pfam05461
      Location:1 → 196
      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
      36140323..36166177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028949.2 → XP_016884438.1  apolipoprotein L3 isoform X1

      Conserved Domains (1) summary
      pfam05461
      Location:20 → 326
      ApoL; Apolipoprotein L

    2. XM_047441507.1 → XP_047297463.1  apolipoprotein L3 isoform X1

    3. XM_047441508.1 → XP_047297464.1  apolipoprotein L3 isoform X2

    4. XM_047441506.1 → XP_047297462.1  apolipoprotein L3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      36600511..36626361 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325950.1 → XP_054181925.1  apolipoprotein L3 isoform X1

    2. XM_054325951.1 → XP_054181926.1  apolipoprotein L3 isoform X2

    3. XM_054325949.1 → XP_054181924.1  apolipoprotein L3 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_027833.1: Suppressed sequence

      Description
      NR_027833.1: This RefSeq was permanently suppressed because it is now thought that this transcript variant encodes a protein.

    2. NR_027834.1: Suppressed sequence

      Description
      NR_027834.1: This RefSeq was permanently suppressed because it is now thought that this transcript variant encodes a protein.

    3. NR_027835.1: Suppressed sequence

      Description
      NR_027835.1: This RefSeq was permanently suppressed because it is now thought that this transcript variant encodes a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95236.3 GenPept UniProtKB/Swiss-Prot:O95236

    Gene LinkOut

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