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    APOC3 apolipoprotein C3 [ Homo sapiens (human) ]

    Gene ID: 345, updated on 27-Nov-2024

    Summary

    Official Symbol
    APOC3provided by HGNC
    Official Full Name
    apolipoprotein C3provided by HGNC
    Primary source
    HGNC:HGNC:610
    See related
    Ensembl:ENSG00000110245 MIM:107720; AllianceGenome:HGNC:610
    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
    Apo-C3; ApoC-3; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See APOC3 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (116829907..116833072)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (116845008..116848178)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (116700623..116703788)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene skeletal muscle cis-regulatory module in APOA4 and APOC3 intergenic region Neighboring gene lncRNA regulator of hepatic lineages 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:116700143-116701075 Neighboring gene apolipoprotein A4 Neighboring gene APOA1 antisense RNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3925 Neighboring gene apolipoprotein A1 Neighboring gene SIK family kinase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5558 Neighboring gene OCT4 hESC enhancer GRCh37_chr11:116766707-116767208 Neighboring gene MPRA-validated peak1483 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3927 Neighboring gene MPRA-validated peak1484 silencer Neighboring gene MPRA-validated peak1485 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5560 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:116881555-116882207 Neighboring gene RNY4 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Apolipoprotein c-III deficiency
    MedGen: C3151467 OMIM: 614028 GeneReviews: Not available
    not available

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC150353

    Gene Ontology Provided by GOA

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5000..8165
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000040.3NP_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, Q08E83, Q6Q786
      UniProtKB/TrEMBL
      A3KPE2, B0YIW2
      Related
      ENSP00000227667.2, ENST00000227667.8
      Conserved Domains (1) summary
      pfam05778
      Location:2390
      Apo-CIII; Apolipoprotein CIII (Apo-CIII)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      116829907..116833072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      116845008..116848178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)