Human Gene APOC3 (ENST00000227667.8_6) from GENCODE V47lift37
  Description: apolipoprotein C3 (from RefSeq NM_000040.3)
Gencode Transcript: ENST00000227667.8_6
Gencode Gene: ENSG00000110245.12_13
Transcript (Including UTRs)
   Position: hg19 chr11:116,700,623-116,703,788 Size: 3,166 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr11:116,701,299-116,703,600 Size: 2,302 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 (chr11:116,700,623-116,703,788)mRNA (may differ from genome)Protein (99 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: APOC3_HUMAN
DESCRIPTION: RecName: Full=Apolipoprotein C-III; Short=Apo-CIII; Short=ApoC-III; AltName: Full=Apolipoprotein C3; Flags: Precursor;
FUNCTION: Inhibits lipoprotein lipase and hepatic lipase and decreases the uptake of lymph chylomicrons by hepatic cells. This suggests that it delays the catabolism of triglyceride-rich particles.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Constitutes 50% of the protein fraction of VLDL and 2% of that of HDL. Synthesized predominantly in liver and to a lesser degree in intestine.
PTM: O-linked glycan consists of Gal-GalNAc disaccharide, further modified with up to 3 sialic acid residues. O-glycosylated on Thr- 94 with a core 1 or possibly core 8 glycan.
DISEASE: Defects in APOC3 are the cause of hyperalphalipoproteinemia type 2 (HALP2) [MIM:614028]. HALP2 is a condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels.
SIMILARITY: Belongs to the apolipoprotein C3 family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOC3";

-  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: APOC3
Diseases sorted by gene-association score: apolipoprotein c-iii deficiency* (1325), hyperalphalipoproteinemia* (279), coronary artery disease (23), hypertriglyceridemia (21), hyperlipidemia, familial combined (10), lipid metabolism disorder (9), arrhythmogenic right ventricular dysplasia 4 (9), hypoalphalipoproteinemia (8), uremia (6), familial hyperlipidemia (6), peroxisomal acyl-coa oxidase deficiency (6), lipoprotein lipase deficiency (5), norum disease (4), maturity-onset diabetes of the young (2), diabetes mellitus, noninsulin-dependent (2), myocardial infarction (2), hypercholesterolemia, familial (2), obesity (1)
* = Manually curated disease association

-  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: 4579.33 RPKM in Liver
Total median expression: 4838.29 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 -8.9047-0.189 Picture PostScript Text
3' UTR -55.60188-0.296 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
IPR008403 - Apo-CIII

Pfam Domains:
PF05778 - Apolipoprotein CIII (Apo-CIII)

SCOP Domains:
47162 - Apolipoprotein
82936 - Apolipoprotein A-II

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2JQ3 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P02656
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    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005543 phospholipid binding
GO:0008289 lipid binding
GO:0015485 cholesterol binding
GO:0030234 enzyme regulator activity
GO:0055102 lipase inhibitor activity
GO:0070653 high-density lipoprotein particle receptor binding

Biological Process:
GO:0001523 retinoid metabolic process
GO:0006629 lipid metabolic process
GO:0006641 triglyceride metabolic process
GO:0006869 lipid transport
GO:0007186 G-protein coupled receptor signaling pathway
GO:0010897 negative regulation of triglyceride catabolic process
GO:0010903 negative regulation of very-low-density lipoprotein particle remodeling
GO:0010916 negative regulation of very-low-density lipoprotein particle clearance
GO:0010987 negative regulation of high-density lipoprotein particle clearance
GO:0010989 negative regulation of low-density lipoprotein particle clearance
GO:0016042 lipid catabolic process
GO:0019433 triglyceride catabolic process
GO:0032489 regulation of Cdc42 protein signal transduction
GO:0033344 cholesterol efflux
GO:0033700 phospholipid efflux
GO:0034371 chylomicron remodeling
GO:0034375 high-density lipoprotein particle remodeling
GO:0034378 chylomicron assembly
GO:0034379 very-low-density lipoprotein particle assembly
GO:0034382 chylomicron remnant clearance
GO:0042157 lipoprotein metabolic process
GO:0042632 cholesterol homeostasis
GO:0043691 reverse cholesterol transport
GO:0045717 negative regulation of fatty acid biosynthetic process
GO:0045833 negative regulation of lipid metabolic process
GO:0048261 negative regulation of receptor-mediated endocytosis
GO:0050995 negative regulation of lipid catabolic process
GO:0051005 negative regulation of lipoprotein lipase activity
GO:0060621 negative regulation of cholesterol import
GO:0070328 triglyceride homeostasis

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005769 early endosome
GO:0031012 extracellular matrix
GO:0034361 very-low-density lipoprotein particle
GO:0034363 intermediate-density lipoprotein particle
GO:0034366 spherical high-density lipoprotein particle
GO:0042627 chylomicron
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  KJ896445 - Synthetic construct Homo sapiens clone ccsbBroadEn_05839 APOC3 gene, encodes complete protein.
KJ890687 - Synthetic construct Homo sapiens clone ccsbBroadEn_00081 APOC3 gene, encodes complete protein.
KR710675 - Synthetic construct Homo sapiens clone CCSBHm_00015564 APOC3 (APOC3) mRNA, encodes complete protein.
KR710676 - Synthetic construct Homo sapiens clone CCSBHm_00015565 APOC3 (APOC3) mRNA, encodes complete protein.
KR710677 - Synthetic construct Homo sapiens clone CCSBHm_00015567 APOC3 (APOC3) mRNA, encodes complete protein.
BC121081 - Homo sapiens apolipoprotein C-III, mRNA (cDNA clone MGC:150353 IMAGE:40119733), complete cds.
BC134419 - Homo sapiens apolipoprotein C-III, mRNA (cDNA clone MGC:161914 IMAGE:40119734), complete cds.
X01388 - Human mRNA for pre-apolipoprotein CIII.
BC027977 - Homo sapiens apolipoprotein C-III, mRNA (cDNA clone MGC:34519 IMAGE:5229117), complete cds.
M28613 - Human apolipoprotein C-III (apoC-III) mRNA, complete cds, clone pCIII-607.
M28614 - Human apolipoprotein C-III (apoC-III) mRNA, complete cds, clone pCIII-655-2.
JD073550 - Sequence 54574 from Patent EP1572962.
DQ892044 - Synthetic construct clone IMAGE:100004674; FLH182654.01X; RZPDo839A08140D apolipoprotein C-III (APOC3) gene, encodes complete protein.
DQ895238 - Synthetic construct Homo sapiens clone IMAGE:100009698; FLH182650.01L; RZPDo839A08139D apolipoprotein C-III (APOC3) gene, encodes complete protein.
X00567 - Human mRNA for lipoprotein apoCIII.
V01513 - Human messenger fragment encoding apolipoprotein C-III (apo C-III).
JD352694 - Sequence 333718 from Patent EP1572962.
JD289929 - Sequence 270953 from Patent EP1572962.

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

Protein P02656 (Reactome details) participates in the following event(s):

R-HSA-266303 Spherical HDL binds C and E apolipoproteins
R-HSA-174660 nascent chylomicron + spherical HDL:apoC-II:apoC-III:apoE =>spherical HDL + chylomicron
R-HSA-2395784 Nascent CMs transform into mature CMs
R-HSA-174757 chylomicron => TG-depleted chylomicron + 50 long-chain fatty acids + 50 diacylglycerols
R-HSA-174690 TG-depleted chylomicron + spherical HDL => chylomicron remnant + spherical HDL:apoA-I:apoA-II:apoA-IV:apoC-II:apoC-III
R-HSA-2395768 LPL hydrolyses TGs from mature CMs
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-8964058 HDL remodeling
R-HSA-8963888 Chylomicron assembly
R-HSA-975634 Retinoid metabolism and transport
R-HSA-8963901 Chylomicron remodeling
R-HSA-8963899 Plasma lipoprotein remodeling
R-HSA-8963898 Plasma lipoprotein assembly
R-HSA-2187338 Visual phototransduction
R-HSA-6806667 Metabolism of fat-soluble vitamins
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-418594 G alpha (i) signalling events
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-382551 Transport of small molecules
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: APOC3_HUMAN, ENST00000227667.1, ENST00000227667.2, ENST00000227667.3, ENST00000227667.4, ENST00000227667.5, ENST00000227667.6, ENST00000227667.7, NM_000040, P02656, Q08E83, Q6Q786, uc317dnc.1, uc317dnc.2
UCSC ID: ENST00000227667.8_6
RefSeq Accession: NM_000040.3
Protein: P02656 (aka APOC3_HUMAN or APC3_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.