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APOC3 apolipoprotein C3 [ Homo sapiens (human) ]

Gene ID: 345, updated on 12-Aug-2018

Summary

Official Symbol
APOC3provided by HGNC
Official Full Name
apolipoprotein C3provided by HGNC
Primary source
HGNC:HGNC:610
See related
Ensembl:ENSG00000110245 MIM:107720; Vega:OTTHUMG00000046115
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
APOCIII
Summary
This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]
Expression
Restricted expression toward liver (RPKM 3180.7) See more
Orthologs

Genomic context

See APOC3 in Genome Data Viewer
Location:
11q23.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (116829892..116833074)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (116700624..116703787)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene skeletal muscle cis-regulatory module in APOA4 and APOC3 intergenic region Neighboring gene apolipoprotein A4 Neighboring gene APOA1 antisense RNA Neighboring gene apolipoprotein A1 Neighboring gene SIK family kinase 3 Neighboring gene RNA, Ro-associated Y4 pseudogene 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hyperalphalipoproteinemia 2
MedGen: C3151467 OMIM: 614028 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
NHGRI GWA Catalog
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
NHGRI GWA Catalog
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
NHGRI GWA Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
NHGRI GWA Catalog

Pathways from BioSystems

  • Chylomicron-mediated lipid transport, organism-specific biosystem (from REACTOME)
    Chylomicron-mediated lipid transport, organism-specific biosystemChylomicrons transport triacylglycerol, phospholipid, and cholesterol derived from dietary lipid from the small intestine to other tissues of the body. Each chylomicron assembles around a single mole...
  • Composition of Lipid Particles, organism-specific biosystem (from WikiPathways)
    Composition of Lipid Particles, organism-specific biosystemThis particle describes the chemical composition of various lipid particles. See also WP430 and other pathways. Additional sources - A. Goldberg, Overview of Lipid Metabolism, 2015. http://www.msdma...
  • HDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
    HDL-mediated lipid transport, organism-specific biosystemHDL particles play a central role in the reverse transport of cholesterol, the process by which cholesterol in tissues other than the liver is returned to the liver for conversion to bile salts and e...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of fat-soluble vitamins, organism-specific biosystem (from REACTOME)
    Metabolism of fat-soluble vitamins, organism-specific biosystemVitamins A, D, E, and K are classified as fat-soluble. Metabolic pathways by which dietary precursors of vitamins A (Harrison 2005) and K(Shearer et al. 2012) are converted to active forms, and by wh...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • PPAR Alpha Pathway, organism-specific biosystem (from WikiPathways)
    PPAR Alpha Pathway, organism-specific biosystemPPAR alpha (also known as NR1C1) is a nuclear receptor that is involved with transcriptional regulation of genes involved in beta-oxidation, metabolism, fatty acid transport, etc.
  • PPAR signaling pathway, organism-specific biosystem (from KEGG)
    PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • PPAR signaling pathway, conserved biosystem (from KEGG)
    PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • Retinoid metabolism and transport, organism-specific biosystem (from REACTOME)
    Retinoid metabolism and transport, organism-specific biosystemVitamin A (all-trans-retinol) must be taken up, either as carotenes from plants, or as retinyl esters from animal food. The most prominent carotenes are alpha-carotene, lycopene, lutein, beta-cryptox...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Statin Pathway, organism-specific biosystem (from WikiPathways)
    Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC150353

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IC
Inferred by Curator
more info
PubMed 
enzyme regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
high-density lipoprotein particle receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
lipase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
G-protein coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol efflux IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
chylomicron assembly TAS
Traceable Author Statement
more info
 
chylomicron remnant clearance IDA
Inferred from Direct Assay
more info
PubMed 
chylomicron remodeling TAS
Traceable Author Statement
more info
 
high-density lipoprotein particle remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
high-density lipoprotein particle remodeling TAS
Traceable Author Statement
more info
 
lipoprotein metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cholesterol import IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of fatty acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of high-density lipoprotein particle clearance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of high-density lipoprotein particle clearance IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of lipid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of lipid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of lipoprotein lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of lipoprotein lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of low-density lipoprotein particle clearance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of low-density lipoprotein particle clearance IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of receptor-mediated endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of triglyceride catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of triglyceride catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of very-low-density lipoprotein particle clearance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of very-low-density lipoprotein particle clearance IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of very-low-density lipoprotein particle remodeling IC
Inferred by Curator
more info
PubMed 
negative regulation of very-low-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid efflux IDA
Inferred from Direct Assay
more info
PubMed 
regulation of Cdc42 protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
reverse cholesterol transport IC
Inferred by Curator
more info
PubMed 
triglyceride catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
triglyceride metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
very-low-density lipoprotein particle assembly TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
chylomicron IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chylomicron IDA
Inferred from Direct Assay
more info
PubMed 
collagen-containing extracellular matrix HDA PubMed 
early endosome TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
intermediate-density lipoprotein particle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intermediate-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 
spherical high-density lipoprotein particle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spherical high-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 
very-low-density lipoprotein particle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
very-low-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008949.1 RefSeqGene

    Range
    4985..8167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000040.2NP_000031.1  apolipoprotein C-III precursor

    See identical proteins and their annotated locations for NP_000031.1

    Status: REVIEWED

    Source sequence(s)
    AV657170, H74029, X01388
    Consensus CDS
    CCDS8377.1
    UniProtKB/Swiss-Prot
    P02656
    UniProtKB/TrEMBL
    A3KPE2
    Related
    ENSP00000227667.2, OTTHUMP00000043270, ENST00000227667.7
    Conserved Domains (1) summary
    pfam05778
    Location:2390
    Apo-CIII; Apolipoprotein CIII (Apo-CIII)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    116829892..116833074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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