Free for academic non-profit institutions. Other users need a Commercial license

Aliases for APOC3 Gene

Aliases for APOC3 Gene

  • Apolipoprotein C3 2 3 4 5
  • Apolipoprotein C-III 2 3
  • Apo-CIII 4
  • ApoC-III 4
  • APOCIII 3
  • HALP2 3

External Ids for APOC3 Gene

Previous GeneCards Identifiers for APOC3 Gene

  • GC11P119053
  • GC11P118212
  • GC11P116734
  • GC11P116238
  • GC11P116205
  • GC11P116700
  • GC11P112632

Summaries for APOC3 Gene

Entrez Gene Summary for APOC3 Gene

  • Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for APOC3 Gene

APOC3 (Apolipoprotein C3) is a Protein Coding gene. Diseases associated with APOC3 include Apolipoprotein C-Iii Deficiency and Hyperalphalipoproteinemia. Among its related pathways are Statin Pathway and Metabolism. GO annotations related to this gene include lipid binding and cholesterol binding.

UniProtKB/Swiss-Prot for APOC3 Gene

  • Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma (PubMed:18201179, PubMed:22510806). Plays a multifaceted role in triglyceride homeostasis (PubMed:18201179, PubMed:22510806). Intracellularly, promotes hepatic very low density lipoprotein 1 (VLDL1) assembly and secretion; extracellularly, attenuates hydrolysis and clearance of triglyceride-rich lipoproteins (TRLs) (PubMed:18201179, PubMed:22510806). Impairs the lipolysis of TRLs by inhibiting lipoprotein lipase and the hepatic uptake of TRLs by remnant receptors (PubMed:18201179, PubMed:22510806). Formed of several curved helices connected via semiflexible hinges, so that it can wrap tightly around the curved micelle surface and easily adapt to the different diameters of its natural binding partners (PubMed:18408013).

Gene Wiki entry for APOC3 Gene

Additional gene information for APOC3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOC3 Gene

Genomics for APOC3 Gene

Regulatory Elements for APOC3 Gene

Enhancers for APOC3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H116825 1.9 FANTOM5 Ensembl ENCODE dbSUPER 22.4 +3.7 3700 16 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF2 YY1 SLC30A9 ZNF143 APOA5 APOA1 LOC653303 APOC3 TAGLN ZPR1 BUD13 ENSG00000226645 ENSG00000224077 SIK3
GH11H116851 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +23.8 23759 4 HDGF FEZF1 ZNF143 ZNF207 FOS ATF7 KLF7 RUNX3 YY2 JUNB LOC653303 SIK3 APOA1 APOC3 APOA4 ENSG00000236267 APOA5 ZPR1 ENSG00000224077 BUD13
GH11H117036 1.3 Ensembl ENCODE dbSUPER 10.5 +207.9 207947 1 ZNF146 INSM2 ZNF140 FEZF1 HIC1 ZNF121 ZNF366 SCRT2 ZNF600 TCF7L2 RNF214 APOA1 CEP164 LOC653303 BUD13 ENSG00000224077 SIK3 TAGLN APOA1-AS APOC3
GH11H116887 1.1 Ensembl ENCODE dbSUPER 11.7 +58.8 58765 2 FOXA2 RAD21 FOXA1 GABPA YY1 RCOR2 CEBPA HNF4A LOC653303 APOA1 APOA1-AS APOC3 APOA4 SIK3 ENSG00000224077 ENSG00000254678 PAFAH1B2 APOA5
GH11H117092 1.1 ENCODE dbSUPER 10.5 +263.4 263429 1 FOXA2 BATF RAD21 RARA YY1 ATF7 RUNX3 IKZF2 CREM MIXL1 APOA1 APOA1-AS APOC3 APOA4 PCSK7 RNF214 TAGLN SIK3 GC11M117070
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around APOC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for APOC3 Gene

Chromosome:
11
Start:
116,829,706 bp from pter
End:
116,833,072 bp from pter
Size:
3,367 bases
Orientation:
Plus strand

Genomic View for APOC3 Gene

Genes around APOC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOC3 Gene

Proteins for APOC3 Gene

  • Protein details for APOC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02656-APOC3_HUMAN
    Recommended name:
    Apolipoprotein C-III
    Protein Accession:
    P02656
    Secondary Accessions:
    • Q08E83
    • Q6Q786

    Protein attributes for APOC3 Gene

    Size:
    99 amino acids
    Molecular mass:
    10852 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for APOC3 Gene

neXtProt entry for APOC3 Gene

Post-translational modifications for APOC3 Gene

  • The most abundant glycoforms are characterized by an O-linked disaccharide galactose linked to N-acetylgalactosamine (Gal-GalNAc), further modified with up to 3 sialic acid residues. Less abundant glycoforms are characterized by more complex and fucosylated glycan moieties. O-glycosylated on Thr-94 with a core 1 or possibly core 8 glycan.
  • Glycosylation at posLast=9494
  • Modification sites at PhosphoSitePlus

Other Protein References for APOC3 Gene

Antibody Products

No data available for DME Specific Peptides for APOC3 Gene

Domains & Families for APOC3 Gene

Gene Families for APOC3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for APOC3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for APOC3 Gene

Graphical View of Domain Structure for InterPro Entry

P02656

UniProtKB/Swiss-Prot:

APOC3_HUMAN :
  • Belongs to the apolipoprotein C3 family.
Family:
  • Belongs to the apolipoprotein C3 family.
genes like me logo Genes that share domains with APOC3: view

Function for APOC3 Gene

Molecular function for APOC3 Gene

GENATLAS Biochemistry:
apolipoprotein C-III,major component of VLDL,associated with isolated low high density lipoprotein cholesterol
UniProtKB/Swiss-Prot Function:
Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma (PubMed:18201179, PubMed:22510806). Plays a multifaceted role in triglyceride homeostasis (PubMed:18201179, PubMed:22510806). Intracellularly, promotes hepatic very low density lipoprotein 1 (VLDL1) assembly and secretion; extracellularly, attenuates hydrolysis and clearance of triglyceride-rich lipoproteins (TRLs) (PubMed:18201179, PubMed:22510806). Impairs the lipolysis of TRLs by inhibiting lipoprotein lipase and the hepatic uptake of TRLs by remnant receptors (PubMed:18201179, PubMed:22510806). Formed of several curved helices connected via semiflexible hinges, so that it can wrap tightly around the curved micelle surface and easily adapt to the different diameters of its natural binding partners (PubMed:18408013).

Phenotypes From GWAS Catalog for APOC3 Gene

Gene Ontology (GO) - Molecular Function for APOC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005543 phospholipid binding IDA 4066713
GO:0008289 lipid binding IEA --
GO:0015485 cholesterol binding IC 11162594
GO:0030234 enzyme regulator activity IDA 11060345
GO:0055102 lipase inhibitor activity IDA 182536
genes like me logo Genes that share ontologies with APOC3: view
genes like me logo Genes that share phenotypes with APOC3: view

Human Phenotype Ontology for APOC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for APOC3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for APOC3 Gene

Localization for APOC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOC3 Gene

Secreted.

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 APOC3 gene
Compartment Confidence
extracellular 5
endosome 4
peroxisome 2
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for APOC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005615 extracellular space IDA 11060345
GO:0005769 early endosome TAS --
GO:0031012 extracellular matrix IDA 27559042
GO:0034361 very-low-density lipoprotein particle IDA 3973011
genes like me logo Genes that share ontologies with APOC3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for APOC3 Gene

Pathways & Interactions for APOC3 Gene

genes like me logo Genes that share pathways with APOC3: view

Pathways by source for APOC3 Gene

Gene Ontology (GO) - Biological Process for APOC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006641 triglyceride metabolic process IMP 17142127
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
genes like me logo Genes that share ontologies with APOC3: view

No data available for SIGNOR curated interactions for APOC3 Gene

Drugs & Compounds for APOC3 Gene

(29) Drugs for APOC3 Gene - From: DrugBank, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma Target 188
Ritonavir Approved, Investigational Pharma HIV protease inhibitor 888

(27) Additional Compounds for APOC3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Triglycerides Group B
  • 1-Myristoyl-2-myristoyl-3-arachidonyl-glycerol
  • 1-Tetradecanoyl-2-tetradecanoyl-3-eicosanoyl-glycerol
  • TAG(14:0/14:0/20:0)
  • TAG(48:0)
  • TG(48:0)
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7
Triglycerides Group D
  • 1-Stearoyl-2-stearoyl-3-stearoyl-glycerol
  • TAG(18:0/18:0/18:0)
  • TAG(54:0)
  • TG(18:0/18:0/18:0)
  • TG(54:0)
genes like me logo Genes that share compounds with APOC3: view

Transcripts for APOC3 Gene

Unigene Clusters for APOC3 Gene

Apolipoprotein C-III:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for APOC3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for APOC3 Gene

No ASD Table

Relevant External Links for APOC3 Gene

GeneLoc Exon Structure for
APOC3
ECgene alternative splicing isoforms for
APOC3

Expression for APOC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for APOC3 Gene

mRNA differential expression in normal tissues according to GTEx for APOC3 Gene

This gene is overexpressed in Liver (x51.0).

Protein differential expression in normal tissues from HIPED for APOC3 Gene

This gene is overexpressed in Serum (39.8) and Plasma (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for APOC3 Gene



Protein tissue co-expression partners for APOC3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APOC3 Gene:

APOC3

SOURCE GeneReport for Unigene cluster for APOC3 Gene:

Hs.73849

mRNA Expression by UniProt/SwissProt for APOC3 Gene:

P02656-APOC3_HUMAN
Tissue specificity: Liver.

Evidence on tissue expression from TISSUES for APOC3 Gene

  • Liver(4.9)
  • Pancreas(4.3)
  • Nervous system(4.2)
  • Spleen(4)
  • Intestine(3.4)
  • Blood(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for APOC3 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
Organs:
Head and neck:
  • ear
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • liver
  • small intestine
General:
  • blood vessel
genes like me logo Genes that share expression patterns with APOC3: view

Primer Products

Orthologs for APOC3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for APOC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APOC3 33 34
  • 97.98 (n)
dog
(Canis familiaris)
Mammalia APOC3 33 34
  • 83.84 (n)
cow
(Bos Taurus)
Mammalia APOC3 33 34
  • 82.17 (n)
mouse
(Mus musculus)
Mammalia Apoc3 34
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APOC3 34
  • 46 (a)
OneToOne
Species where no ortholog for APOC3 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for APOC3 Gene

ENSEMBL:
Gene Tree for APOC3 (if available)
TreeFam:
Gene Tree for APOC3 (if available)

Paralogs for APOC3 Gene

No data available for Paralogs for APOC3 Gene

Variants for APOC3 Gene

Sequence variations from dbSNP and Humsavar for APOC3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121918382 Pathogenic, Hyperalphalipoproteinemia 2 (HALP2) [MIM:614028] 116,832,816(+) CCGTT(A/G)AGGAC reference, missense
rs121918381 Pathogenic 116,832,864(+) GACCA(A/G)CTTCA reference, missense
rs138326449 Pathogenic 116,830,638(+) TGCCC(A/G)TAAGC splice-donor-variant
rs140621530 Pathogenic 116,830,897(+) GCCAG(G/T)TACAC splice-donor-variant
rs147210663 Pathogenic 116,830,844(+) AGACC(A/G/T)CCAAG reference, missense

Variation tolerance for APOC3 Gene

Residual Variation Intolerance Score: 66.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APOC3 Gene

Human Gene Mutation Database (HGMD)
APOC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for APOC3 Gene

Disorders for APOC3 Gene

MalaCards: The human disease database

(18) MalaCards diseases for APOC3 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
apolipoprotein c-iii deficiency
  • hyperalphalipoproteinemia 2
hyperalphalipoproteinemia
  • cholesterol-ester transfer protein deficiency
coronary artery disease
  • coronary artery anomaly
hypertriglyceridemia
  • hypertriglyceridemia, familial
hyperlipidemia, familial combined
  • combined hyperlipidemia, familial
- elite association - COSMIC cancer census association via MalaCards
Search APOC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

APOC3_HUMAN
  • Hyperalphalipoproteinemia 2 (HALP2) [MIM:614028]: A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. {ECO:0000269 PubMed:2022742}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for APOC3 Gene

hyperalphalipoproteinemia with an APOC-III variant

Relevant External Links for APOC3

Genetic Association Database (GAD)
APOC3
Human Genome Epidemiology (HuGE) Navigator
APOC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APOC3
genes like me logo Genes that share disorders with APOC3: view

Publications for APOC3 Gene

  1. Apolipoprotein C3 polymorphisms, cognitive function and diabetes in Caribbean origin Hispanics. (PMID: 19424489) Smith CE … Ordovás JM (PloS one 2009) 3 22 45 60
  2. A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. (PMID: 19074352) Pollin TI … Shuldiner AR (Science (New York, N.Y.) 2008) 3 22 45 60
  3. Association of APOC3 polymorphisms with both dyslipidemia and lipoatrophy in HAART-receiving patients. (PMID: 18240956) Bonnet E … Perret B (AIDS research and human retroviruses 2008) 3 22 45 60
  4. Structure and dynamics of human apolipoprotein CIII. (PMID: 18408013) Gangabadage CS … Wijmenga SS (The Journal of biological chemistry 2008) 3 4 22 60
  5. Abdominal obesity and hyperglycemia mask the effect of a common APOC3 haplotype on the risk of myocardial infarction. (PMID: 18541587) Ruiz-Narváez EA … Campos H (The American journal of clinical nutrition 2008) 3 22 45 60

Products for APOC3 Gene

Sources for APOC3 Gene

Content
Loading form....