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APOL3 apolipoprotein L3 [ Homo sapiens (human) ]

Gene ID: 80833, updated on 2-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 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)

Genotypes

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

    See identical proteins and their annotated locations for NP_055164.1

    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

    See identical proteins and their annotated locations for NP_085147.1

    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

    See identical proteins and their annotated locations for NP_663614.1

    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

    See identical proteins and their annotated locations for NP_663615.1

    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

    See identical proteins and their annotated locations for NP_663616.1

    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

    See identical proteins and their annotated locations for NP_663617.1

    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

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