Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    APOC3 apolipoprotein C3 [ Homo sapiens (human) ]

    Gene ID: 345, updated on 12-Nov-2017
    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
    Location:
    11q23.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (116829908..116833071)
    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 apolipoprotein A5 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

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    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 IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    lipase inhibitor activity IDA
    Inferred from Direct Assay
    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 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 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 IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    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 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intermediate-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spherical high-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    very-low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      116829908..116833071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      116585371..116588539
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center