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APOC3 apolipoprotein C3 [ Homo sapiens (human) ]

Gene ID: 345, updated on 9-Jan-2022

Summary

Official Symbol
APOC3provided by HGNC
Official Full Name
apolipoprotein C3provided by HGNC
Primary source
HGNC:HGNC:610
See related
Ensembl:ENSG00000110245 MIM:107720
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
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Genomic context

See APOC3 in Genome Data Viewer
Location:
11q23.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (116829907..116833072)
105.20201022 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 apolipoprotein A4 Neighboring gene APOA1 antisense RNA Neighboring gene apolipoprotein A1 Neighboring gene SIK family kinase 3 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
Hyperalphalipoproteinemia 2
MedGen: C3151467 OMIM: 614028 GeneReviews: Not available
Compare labs

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

Homology

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
PubMed 
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
PubMed 
enables lipase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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
PubMed 
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
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in triglyceride homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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