APOL3 Gene (Protein Coding)

Apolipoprotein L3

GC22M036140
GIFtS:
36
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-alph... See more...

Aliases for APOL3 Gene

Aliases for APOL3 Gene

  • Apolipoprotein L3 2 3 4 5
  • TNF-Inducible Protein CG12-1 3 4
  • Apolipoprotein L-III 3 4
  • ApoL-III 3 4
  • CG12_1 3 4
  • Apolipoprotein L-III Splice Variant Alpha 3
  • Apolipoprotein L-III Splice Variant Beta 3
  • Apolipoprotein L, 3 3
  • APOLIII 3
  • CG121 3

External Ids for APOL3 Gene

Previous GeneCards Identifiers for APOL3 Gene

  • GC22M033179
  • GC22M034808
  • GC22M034860
  • GC22M036536
  • GC22M019504

Summaries for APOL3 Gene

Entrez Gene Summary for APOL3 Gene

  • 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]

GeneCards Summary for APOL3 Gene

APOL3 (Apolipoprotein L3) is a Protein Coding gene. Among its related pathways are Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF). Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and lipid transporter activity. An important paralog of this gene is APOL4.

UniProtKB/Swiss-Prot Summary for APOL3 Gene

  • May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles.

Gene Wiki entry for APOL3 Gene

Additional gene information for APOL3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APOL3 Gene

Genomics for APOL3 Gene

GeneHancer (GH) Regulatory Elements for APOL3 Gene

Promoters and enhancers for APOL3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22J036153 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 754.7 +7.5 7546 10.7 FOXA1 MIXL1 ETV6 RELA HLF ZNF121 ZNF148 ELF3 POLR2A ZFX APOL3 lnc-APOL4-3 lnc-APOL4-2
GH22J036164 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 750.6 +0.3 311 3.5 FOXA1 NFYC SP1 CEBPG MLLT1 PKNOX1 CEBPA RXRA FOXA2 ATF7 APOL3 lnc-APOL4-2
GH22J036348 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 22.4 -202.8 -202811 41.2 GTF3C2 ZNF785 ZNF24 ZBTB40 SP1 FOXA1 ZBTB6 LCORL MLX RBPJ MYH9 EIF3D MCM5 APOL3 TXN2 ENSG00000252225 FOXRED2 APOL1 CSF2RB RPS15AP38
GH22J036449 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.7 -295.0 -294988 24 ZBTB40 CTCF SREBF1 ZBTB6 FOXA1 MLX RBPJ SMARCE1 POLR2A TCF7L2 LOC105373018 piR-60945 CSF2RB APOL3 FOXRED2 ENSG00000252225 IFT27 RPS15AP38 TXN2 APOL4
GH22J036478 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 -314.4 -314449 4.8 SIN3A ZNF24 ZBTB40 MLX RBPJ SMARCE1 POLR2A CTBP1 ATF1 CREB1 TXN2 HSALNG0135230 IFT27 FOXRED2 EIF3D MYH9 CSF2RB APOL3 APOL4 RBFOX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APOL3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APOL3 gene promoter:
  • C/EBPalpha
  • En-1
  • FOXO4
  • Msx-1
  • RSRFC4

Genomic Locations for APOL3 Gene

Genomic Locations for APOL3 Gene
chr22:36,140,323-36,166,177
(GRCh38/hg38)
Size:
25,855 bases
Orientation:
Minus strand
chr22:36,536,371-36,562,225
(GRCh37/hg19)
Size:
25,855 bases
Orientation:
Minus strand

Genomic View for APOL3 Gene

Genes around APOL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOL3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for APOL3 Gene

Proteins for APOL3 Gene

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  • Protein details for APOL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95236-APOL3_HUMAN
    Recommended name:
    Apolipoprotein L3
    Protein Accession:
    O95236
    Secondary Accessions:
    • B1AHI4
    • B1AHI5
    • Q5U5N4
    • Q9BQ82
    • Q9BQA3

    Protein attributes for APOL3 Gene

    Size:
    402 amino acids
    Molecular mass:
    44278 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for APOL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APOL3 Gene

Protein Expression for APOL3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for APOL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for APOL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for APOL3 Gene

Domains & Families for APOL3 Gene

Gene Families for APOL3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for APOL3 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APOL3 Gene

GenScript: Design optimal peptide antigens:
  • TNF-inducible protein CG12-1 (APOL3_HUMAN)
  • Apolipoprotein L, 3 (B1AHI6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95236

UniProtKB/Swiss-Prot:

APOL3_HUMAN :
  • Belongs to the apolipoprotein L family.
Family:
  • Belongs to the apolipoprotein L family.
genes like me logo Genes that share domains with APOL3: view

Function for APOL3 Gene

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Molecular function for APOL3 Gene

UniProtKB/Swiss-Prot Function:
May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles.
UniProtKB/Swiss-Prot Induction:
In vitro, is responsive to TNF.

Phenotypes From GWAS Catalog for APOL3 Gene

Gene Ontology (GO) - Molecular Function for APOL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005319 lipid transporter activity TAS 10233894
GO:0008289 lipid binding IBA 21873635
genes like me logo Genes that share ontologies with APOL3: view
genes like me logo Genes that share phenotypes with APOL3: view

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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for APOL3 Gene

Localization for APOL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOL3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOL3 gene
Compartment Confidence
extracellular 3
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for APOL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with APOL3: view

Pathways & Interactions for APOL3 Gene

genes like me logo Genes that share pathways with APOL3: view

Pathways by source for APOL3 Gene

Interacting Proteins for APOL3 Gene

STRING Interaction Network Preview (showing top 4 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000344577 O95236-APOL3_HUMAN for APOL3 Gene via STRING IID

GPS-Prot Interaction Network for APOL3

Gene Ontology (GO) - Biological Process for APOL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0006954 inflammatory response TAS 10233894
GO:0042157 lipoprotein metabolic process IEA --
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling HMP 12761501
genes like me logo Genes that share ontologies with APOL3: view

No data available for SIGNOR curated interactions for APOL3 Gene

Drugs & Compounds for APOL3 Gene

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No Compound Related Data Available

Transcripts for APOL3 Gene

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mRNA/cDNA for APOL3 Gene

(6) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(158) Selected AceView cDNA sequences:
(21) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for APOL3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c · 12d · 12e · 12f · 12g
SP1: - - - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - - - - - -
SP4: - - - - - - -
SP5: -
SP6: -
SP7: - - - - - - - - - -
SP8: - - - - - - - - - -
SP9:
SP10:
SP11: - - - - - - - - - - -
SP12: - - - -
SP13: - - - - -
SP14: - - - - - -
SP15:

Relevant External Links for APOL3 Gene

GeneLoc Exon Structure for
APOL3
ECgene alternative splicing isoforms for
APOL3

Expression for APOL3 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for APOL3 Gene

mRNA expression in normal human tissues for APOL3 Gene
mRNA expression by BioGPS for APOL3 GenemRNA expression by GTEx for APOL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for APOL3 Gene

This gene is overexpressed in Urine (15.4), Peripheral blood mononuclear cells (13.5), and Plasma (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APOL3 Gene



Protein tissue co-expression partners for APOL3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APOL3 Gene:

APOL3

SOURCE GeneReport for Unigene cluster for APOL3 Gene:

Hs.474737

mRNA Expression by UniProt/SwissProt for APOL3 Gene:

O95236-APOL3_HUMAN
Tissue specificity: Widely expressed; the highest levels are in prostate, lung and placenta; also detected in kidney, bone marrow, spleen, thymus, spinal cord, adrenal gland, salivary gland, trachea and mammary gland; levels are low in brain, heart, fetal liver, pancreas and testis.

Evidence on tissue expression from TISSUES for APOL3 Gene

  • Liver(4.5)
  • Heart(4.4)
  • Blood(4.1)
  • Pancreas(4.1)
  • Spleen(4)
  • Lung(3.7)
  • Nervous system(3.2)
  • Intestine(3.1)
genes like me logo Genes that share expression patterns with APOL3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for APOL3 Gene

Orthologs for APOL3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia APOL3 33 32
  • 96.44 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia LOC100847379 32
  • 67.77 (n)
APOL3 33 33
  • 49 (a)
 ManyToMany
-- 33
  • 47 (a)
 ManyToMany
-- 33
  • 42 (a)
 ManyToMany
-- 33
  • 40 (a)
 ManyToMany
-- 33
  • 39 (a)
 ManyToMany
rat
(Rattus norvegicus)
 Mammalia LOC100910885 32
  • 64 (n)
mouse
(Mus musculus)
 Mammalia Apol8 33
  • 41 (a)
 ManyToMany
Apol9a 33
  • 41 (a)
 ManyToMany
Apol7c 33
  • 41 (a)
 ManyToMany
Apol9b 33
  • 41 (a)
 ManyToMany
Apol7b 33
  • 40 (a)
 ManyToMany
Apol7e 33
  • 40 (a)
 ManyToMany
Apol11a 33
  • 38 (a)
 ManyToMany
Apol10b 33
  • 37 (a)
 ManyToMany
Apol10a 33
  • 34 (a)
 ManyToMany
Apol11b 33
  • 33 (a)
 ManyToMany
dog
(Canis familiaris)
 Mammalia -- 33
  • 39 (a)
 ManyToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 33
  • 26 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia -- 33
  • 25 (a)
 ManyToMany
-- 33
  • 23 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 48 (a)
 ManyToMany
-- 33
  • 31 (a)
 ManyToMany
zebrafish
(Danio rerio)
 Actinopterygii APOL4 33
  • 14 (a)
 OneToMany
Species where no ortholog for APOL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for APOL3 Gene

ENSEMBL:
Gene Tree for APOL3 (if available)
TreeFam:
Gene Tree for APOL3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APOL3: view image

Paralogs for APOL3 Gene

Paralogs for APOL3 Gene

(5) SIMAP similar genes for APOL3 Gene using alignment to 9 proteins:

  • APOL3_HUMAN
  • F2Z2M3_HUMAN
  • H0YCT0_HUMAN
  • H0YD32_HUMAN
  • H0YDH5_HUMAN
  • H0YDW3_HUMAN
  • H0YEJ6_HUMAN
  • H0YEQ0_HUMAN
  • H7BYQ5_HUMAN
genes like me logo Genes that share paralogs with APOL3: view

Variants for APOL3 Gene

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Sequence variations from dbSNP and Humsavar for APOL3 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000076320 -- 36,164,918(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000123871 -- 36,164,506(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000168046 -- 36,144,873(-) C/A intron_variant
rs1000260794 -- 36,159,238(-) A/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000376892 -- 36,148,534(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for APOL3 Gene

Variant ID Type Subtype PubMed ID
dgv4563n100 CNV loss 25217958
dgv8093n54 CNV loss 21841781
esv2751964 CNV loss 17911159
esv2762122 CNV loss 21179565
esv3307709 CNV mobile element insertion 20981092
esv3307902 CNV mobile element insertion 20981092
esv3356489 CNV insertion 20981092
esv3431226 CNV insertion 20981092
esv3575477 CNV gain 25503493
esv3647677 CNV loss 21293372
nsv521866 CNV loss 19592680
nsv526454 CNV loss 19592680

Variation tolerance for APOL3 Gene

Residual Variation Intolerance Score: 83.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.43; 63.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOL3 Gene

Human Gene Mutation Database (HGMD)
APOL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOL3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOL3 Gene

Disorders for APOL3 Gene

Additional Disease Information for APOL3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for APOL3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for APOL3 Gene

Publications for APOL3 Gene

  1. The human apolipoprotein L gene cluster: identification, classification, and sites of distribution. (PMID: 11374903) Page NM … Lowry PJ (Genomics 2001) 2 3 4 56
  2. Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene. (PMID: 11290834) Duchateau PN … Kane JP (Journal of lipid research 2001) 3 4 23 56
  3. Vascular endothelial genes that are responsive to tumor necrosis factor-alpha in vitro are expressed in atherosclerotic lesions, including inhibitor of apoptosis protein-1, stannin, and two novel genes. (PMID: 10233894) Horrevoets AJ … Pannekoek H (Blood 1999) 3 4 23 56
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  5. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) Ruaño G … Wu AH (Pharmacogenomics 2010) 3 43 56

ExternalLinks

View latest publications for APOL3 gene in Mastermind

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