Human Gene APOA4 (ENST00000357780.5_7) from GENCODE V47lift37
  Description: apolipoprotein A4 (from RefSeq NM_000482.4)
Gencode Transcript: ENST00000357780.5_7
Gencode Gene: ENSG00000110244.7_9
Transcript (Including UTRs)
   Position: hg19 chr11:116,691,416-116,694,020 Size: 2,605 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr11:116,691,583-116,693,907 Size: 2,325 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:116,691,416-116,694,020)mRNA (may differ from genome)Protein (396 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: APOA4_HUMAN
DESCRIPTION: RecName: Full=Apolipoprotein A-IV; Short=Apo-AIV; Short=ApoA-IV; AltName: Full=Apolipoprotein A4; Flags: Precursor;
FUNCTION: May have a role in chylomicrons and VLDL secretion and catabolism. Required for efficient activation of lipoprotein lipase by ApoC-II; potent activator of LCAT. Apoa-IV is a major component of HDL and chylomicrons.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Synthesized primarily in the intestine and secreted in plasma.
DOMAIN: Nine of the thirteen 22-amino acid tandem repeats (each 22-mer is actually a tandem array of two, A and B, related 11- mers) occurring in this sequence are predicted to be highly alpha- helical, and many of these helices are amphipathic. They may therefore serve as lipid-binding domains with lecithin:cholesterol acyltransferase (LCAT) activating abilities.
PTM: Phosphorylation sites are present in the extracellular medium.
POLYMORPHISM: Eight alleles have been characterized (APOA-IV*0 to APOA-IV*7). APOA-IV*1 is the major allele (90%), APOA-IV*2 is also common (8%), the others are rare alleles. The sequence shown represents allele APOA-IV*1.
SIMILARITY: Belongs to the apolipoprotein A1/A4/E family.
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOA4";

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: APOA4
Diseases sorted by gene-association score: carotenemia (16), demyelinating polyneuropathy (8), hypercholesterolemia, familial (7), corneal endothelial dystrophy, autosomal recessive (5), obesity (1)

-  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: 674.02 RPKM in Small Intestine - Terminal Ileum
Total median expression: 708.23 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 -36.20113-0.320 Picture PostScript Text
3' UTR -45.10167-0.270 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
IPR013326 - ApoA/E_ApoLp
IPR000074 - ApoA1_A4_E

Pfam Domains:
PF01442 - Apolipoprotein A1/A4/E domain

SCOP Domains:
47162 - Apolipoprotein
47220 - alpha-catenin/vinculin-like
158430 - Bacillus cereus metalloprotein-like
47857 - Apolipophorin-III
141251 - Kinase-associated protein B-like
58010 - Fibrinogen coiled-coil and central regions
69989 - C-terminal domain of PLC-beta
58113 - Apolipoprotein A-I
82936 - Apolipoprotein A-II

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3S84 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P06727
FrontTopSide
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 DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005319 lipid transporter activity
GO:0005507 copper ion binding
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0015485 cholesterol binding
GO:0016209 antioxidant activity
GO:0017127 cholesterol transporter activity
GO:0031210 phosphatidylcholine binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0060228 phosphatidylcholine-sterol O-acyltransferase activator activity

Biological Process:
GO:0001523 retinoid metabolic process
GO:0002227 innate immune response in mucosa
GO:0006695 cholesterol biosynthetic process
GO:0006869 lipid transport
GO:0006982 response to lipid hydroperoxide
GO:0007159 leukocyte cell-cell adhesion
GO:0008203 cholesterol metabolic process
GO:0010873 positive regulation of cholesterol esterification
GO:0010898 positive regulation of triglyceride catabolic process
GO:0016042 lipid catabolic process
GO:0019430 removal of superoxide radicals
GO:0030300 regulation of intestinal cholesterol absorption
GO:0031102 neuron projection regeneration
GO:0032374 regulation of cholesterol transport
GO:0033344 cholesterol efflux
GO:0033700 phospholipid efflux
GO:0034371 chylomicron remodeling
GO:0034372 very-low-density lipoprotein particle remodeling
GO:0034375 high-density lipoprotein particle remodeling
GO:0034378 chylomicron assembly
GO:0034380 high-density lipoprotein particle assembly
GO:0034445 negative regulation of plasma lipoprotein particle oxidation
GO:0035634 response to stilbenoid
GO:0042157 lipoprotein metabolic process
GO:0042632 cholesterol homeostasis
GO:0042744 hydrogen peroxide catabolic process
GO:0043691 reverse cholesterol transport
GO:0044267 cellular protein metabolic process
GO:0045723 positive regulation of fatty acid biosynthetic process
GO:0046470 phosphatidylcholine metabolic process
GO:0051006 positive regulation of lipoprotein lipase activity
GO:0055088 lipid homeostasis
GO:0065005 protein-lipid complex assembly
GO:0070328 triglyceride homeostasis

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005769 early endosome
GO:0005788 endoplasmic reticulum lumen
GO:0005829 cytosol
GO:0031012 extracellular matrix
GO:0034361 very-low-density lipoprotein particle
GO:0034364 high-density lipoprotein particle
GO:0042627 chylomicron
GO:0070062 extracellular exosome
GO:0072562 blood microparticle
GO:0009986 cell surface


-  Descriptions from all associated GenBank mRNAs
  KJ905687 - Synthetic construct Homo sapiens clone ccsbBroadEn_15357 APOA4 gene, encodes complete protein.
M13654 - Human apolipoprotein A-IV gene, partial cds.
M10373 - Human apolipoprotein A-IV mRNA, partial cds.
M14566 - Human apolipoprotein (apo-A-IV) mRNA, partial cds.
X13629 - Human intestinal mRNA for apolipoprotein A-IV.
JD363038 - Sequence 344062 from Patent EP1572962.
JD512171 - Sequence 493195 from Patent EP1572962.
BC113594 - Homo sapiens apolipoprotein A-IV, mRNA (cDNA clone MGC:142154 IMAGE:8322646), complete cds.
BC113596 - Homo sapiens apolipoprotein A-IV, mRNA (cDNA clone MGC:142156 IMAGE:8322648), complete cds.
JD431172 - Sequence 412196 from Patent EP1572962.
JD494223 - Sequence 475247 from Patent EP1572962.
JD134890 - Sequence 115914 from Patent EP1572962.
JD469911 - Sequence 450935 from Patent EP1572962.
JD417327 - Sequence 398351 from Patent EP1572962.
BC074764 - Homo sapiens apolipoprotein A-IV, mRNA (cDNA clone MGC:103796 IMAGE:30915177), complete cds.
JD540361 - Sequence 521385 from Patent EP1572962.
HQ258218 - Synthetic construct Homo sapiens clone IMAGE:100072527 apolipoprotein A-IV (APOA4) gene, encodes complete protein.
HQ258399 - Synthetic construct Homo sapiens clone IMAGE:100072828 apolipoprotein A-IV (APOA4) gene, encodes complete protein.
JD295517 - Sequence 276541 from Patent EP1572962.
JD418577 - Sequence 399601 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P06727 (Reactome details) participates in the following event(s):

R-HSA-174741 ApoB-48:TG:PL complex + 100 triacylglycerols + ApoA-I + ApoA-IV => nascent chylomicron
R-HSA-174587 nascent chylomicron [endoplasmic reticulum lumen] => nascent chylomicron [extracellular]
R-HSA-174757 chylomicron => TG-depleted chylomicron + 50 long-chain fatty acids + 50 diacylglycerols
R-HSA-174660 nascent chylomicron + spherical HDL:apoC-II:apoC-III:apoE =>spherical HDL + chylomicron
R-HSA-174690 TG-depleted chylomicron + spherical HDL => chylomicron remnant + spherical HDL:apoA-I:apoA-II:apoA-IV:apoC-II:apoC-III
R-HSA-2395784 Nascent CMs transform into mature CMs
R-HSA-2187332 Cytosolic CMs translocate to extracellular region
R-HSA-2395768 LPL hydrolyses TGs from mature CMs
R-HSA-2395764 atREs binds to nascent CM
R-HSA-2404140 NREH hydrolyses atREs to atROL and FAs
R-HSA-2429643 NREH hydrolyses atREs (HSPG:apoE) to atROL and FAs
R-HSA-2423785 CR:atREs binds apoE and HSPG
R-HSA-2424254 LDLR transports extracellular CR:atREs to cytosol
R-HSA-2404131 LRPs transport extracellular CR:atREs:HSPG:apoE to cytosol
R-HSA-8963888 Chylomicron assembly
R-HSA-8963898 Plasma lipoprotein assembly
R-HSA-8963901 Chylomicron remodeling
R-HSA-975634 Retinoid metabolism and transport
R-HSA-8963889 Assembly of active LPL and LIPC lipase complexes
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-8963899 Plasma lipoprotein remodeling
R-HSA-2187338 Visual phototransduction
R-HSA-6806667 Metabolism of fat-soluble vitamins
R-HSA-977225 Amyloid fiber formation
R-HSA-382551 Transport of small molecules
R-HSA-418594 G alpha (i) signalling events
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-392499 Metabolism of proteins
R-HSA-388396 GPCR downstream signalling
R-HSA-1430728 Metabolism
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A8MSL6, APOA4_HUMAN, ENST00000357780.1, ENST00000357780.2, ENST00000357780.3, ENST00000357780.4, NM_000482, P06727, Q14CW8, Q6Q787, uc318afp.1, uc318afp.2
UCSC ID: ENST00000357780.5_7
RefSeq Accession: NM_000482.4
Protein: P06727 (aka APOA4_HUMAN or APA4_HUMAN)

-  Gene Model Information
  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.