Human Gene APOL3 (uc003aot.3)
  Description: Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.
RefSeq Summary (NM_145640): 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].
Transcript (Including UTRs)
   Position: hg19 chr22:36,536,371-36,556,977 Size: 20,607 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr22:36,537,248-36,556,939 Size: 19,692 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:36,536,371-36,556,977)mRNA (may differ from genome)Protein (402 aa)
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H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: APOL3_HUMAN
DESCRIPTION: RecName: Full=Apolipoprotein L3; AltName: Full=Apolipoprotein L-III; Short=ApoL-III; AltName: Full=TNF-inducible protein CG12-1; Short=CG12_1;
FUNCTION: May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles.
SUBCELLULAR LOCATION: Cytoplasm (Probable).
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.
INDUCTION: In vitro, is responsive to TNF.
SIMILARITY: Belongs to the apolipoprotein L family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): APOL3
CDC HuGE Published Literature: APOL3
Positive Disease Associations: Hip
Related Studies:
  1. Hip
    Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics. [PubMed 17903296]
    The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.07 RPKM in Adipose - Subcutaneous
Total median expression: 353.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.5038-0.250 Picture PostScript Text
3' UTR -295.87877-0.337 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008405 - ApoL

Pfam Domains:
PF05461 - Apolipoprotein L

ModBase Predicted Comparative 3D Structure on O95236
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005319 lipid transporter activity
GO:0008289 lipid binding

Biological Process:
GO:0006869 lipid transport
GO:0006954 inflammatory response
GO:0042157 lipoprotein metabolic process
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling

Cellular Component:
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK025349 - Homo sapiens cDNA: FLJ21696 fis, clone COL09689, highly similar to AF070675 Homo sapiens TNF-inducible protein CG12-1 mRNA.
BC042918 - Homo sapiens apolipoprotein L, 3, mRNA (cDNA clone MGC:52206 IMAGE:5932779), complete cds.
BC038352 - Homo sapiens cDNA clone IMAGE:4775997, containing frame-shift errors.
AF070675 - Homo sapiens TNF-inducible protein CG12-1 mRNA, complete cds.
AF305227 - Homo sapiens apolipoprotein L3 mRNA, complete cds.
BC050596 - Homo sapiens apolipoprotein L, 3, mRNA (cDNA clone MGC:60037 IMAGE:6012757), complete cds.
AY014902 - Homo sapiens apolipoprotein L-III splice variant alpha/b (APOLIII) mRNA, complete cds.
AY014903 - Homo sapiens apolipoprotein L-III splice variant alpha/c (APOLIII) mRNA, complete cds.
AY014904 - Homo sapiens apolipoprotein L-III splice variant alpha/d (APOLIII) mRNA, complete cds.
AY014905 - Homo sapiens apolipoprotein L-III splice variant alpha/a (APOLIII) mRNA, complete cds.
AY014906 - Homo sapiens apolipoprotein L-III splice variant beta/a (APOLIII) mRNA, complete cds.
AY014907 - Homo sapiens apolipoprotein L-III splice variant beta/b (APOLIII) mRNA, complete cds.
JD376271 - Sequence 357295 from Patent EP1572962.
JD544276 - Sequence 525300 from Patent EP1572962.
JD309793 - Sequence 290817 from Patent EP1572962.
JD205156 - Sequence 186180 from Patent EP1572962.
JD456327 - Sequence 437351 from Patent EP1572962.
AK297892 - Homo sapiens cDNA FLJ53562 complete cds, highly similar to DnaJ homolog subfamily B member 6.
JD355643 - Sequence 336667 from Patent EP1572962.
JD268034 - Sequence 249058 from Patent EP1572962.
JD088749 - Sequence 69773 from Patent EP1572962.
JD449262 - Sequence 430286 from Patent EP1572962.
JD267857 - Sequence 248881 from Patent EP1572962.
JD292059 - Sequence 273083 from Patent EP1572962.
JD261791 - Sequence 242815 from Patent EP1572962.
JD104189 - Sequence 85213 from Patent EP1572962.
JD515712 - Sequence 496736 from Patent EP1572962.
JD383214 - Sequence 364238 from Patent EP1572962.
JD136638 - Sequence 117662 from Patent EP1572962.
JD494679 - Sequence 475703 from Patent EP1572962.
JD446833 - Sequence 427857 from Patent EP1572962.
JD445878 - Sequence 426902 from Patent EP1572962.
JD343223 - Sequence 324247 from Patent EP1572962.
JD237359 - Sequence 218383 from Patent EP1572962.
JD313183 - Sequence 294207 from Patent EP1572962.
JD285019 - Sequence 266043 from Patent EP1572962.
JD488841 - Sequence 469865 from Patent EP1572962.
CR456379 - Homo sapiens APOL3 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.APOL3).
JD275579 - Sequence 256603 from Patent EP1572962.
JD455845 - Sequence 436869 from Patent EP1572962.
JD378057 - Sequence 359081 from Patent EP1572962.
CU012937 - Homo sapiens APOL3, mRNA (cDNA clone IMAGE:100000101), complete cds, with stop codon, in Gateway system.
AB528065 - Synthetic construct DNA, clone: pF1KE0482, Homo sapiens APOL3 gene for apolipoprotein L,3, without stop codon, in Flexi system.
CU013225 - Homo sapiens APOL3, mRNA (cDNA clone IMAGE:100000005), complete cds, without stop codon, in Gateway system.
JD085614 - Sequence 66638 from Patent EP1572962.
JD043762 - Sequence 24786 from Patent EP1572962.
JD420555 - Sequence 401579 from Patent EP1572962.
BC070144 - Homo sapiens cDNA clone IMAGE:6499259, partial cds.
JD512896 - Sequence 493920 from Patent EP1572962.
JD512897 - Sequence 493921 from Patent EP1572962.
JD274096 - Sequence 255120 from Patent EP1572962.
JD371949 - Sequence 352973 from Patent EP1572962.
JD223076 - Sequence 204100 from Patent EP1572962.
JD100778 - Sequence 81802 from Patent EP1572962.
JD078078 - Sequence 59102 from Patent EP1572962.
JD277953 - Sequence 258977 from Patent EP1572962.
JD373343 - Sequence 354367 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: APOL3_HUMAN, B1AHI4, B1AHI5, NM_145640, NP_663617, O95236, Q5U5N4, Q9BQ82, Q9BQA3
UCSC ID: uc003aot.3
RefSeq Accession: NM_145640
Protein: O95236 (aka APOL3_HUMAN or APL3_HUMAN)
CCDS: CCDS13922.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_145640.2
exon count: 3CDS single in 3' UTR: no RNA size: 2145
ORF size: 1209CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1854.00frame shift in genome: no % Coverage: 99.02
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 140# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.