APOC3 apolipoprotein C3 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (116829907..116833072)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (116845008..116848178)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (116700623..116703788)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exploring apolipoprotein C-III: pathophysiological and pharmacological relevance.
Title: Exploring apolipoprotein C-III: pathophysiological and pharmacological relevance.
Apolipoprotein C3 (ApoC3) facilitates NLRP3 mediated pyroptosis of macrophages through mitochondrial damage by accelerating of the interaction between SCIMP and SYK pathway in acute lung injury.
Title: Apolipoprotein C3 (ApoC3) facilitates NLRP3 mediated pyroptosis of macrophages through mitochondrial damage by accelerating of the interaction between SCIMP and SYK pathway in acute lung injury.
[The role of apolipoprotein C3 in the regulation of nonalcoholic fatty liver disease, glucose and lipid metabolism, and islet beta cell function].
Title: [The role of apolipoprotein C3 in the regulation of nonalcoholic fatty liver disease, glucose and lipid metabolism, and islet β cell function].
Apolipoprotein C3: form begets function.
Title: Apolipoprotein C3: form begets function.
SP1 transcriptionally upregulates the expression of APOC3 in KGN cells to promote disease progression by regulating TLR2/NF-kappaB signalling pathway.
Title: SP1 transcriptionally upregulates the expression of APOC3 in KGN cells to promote disease progression by regulating TLR2/NF-κB signalling pathway.
[Association Between Apolipoprotein C-3 Sst Polymorphism and Serum Lipids in Patients With Gestational Diabetes Mellitus].
Title: [Association Between Apolipoprotein C-3 SstⅠ Polymorphism and Serum Lipids in Patients With Gestational Diabetes Mellitus].
Role of APOC3 3238C/G polymorphism in HIV-associated neurocognitive disorder.
Title: Role of APOC3 3238C/G polymorphism in HIV-associated neurocognitive disorder.
APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease.
Title: APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease.
Investigation of associations between apolipoprotein A5 and C3 gene polymorphisms with plasma triglyceride and lipid levels.
Title: Investigation of associations between apolipoprotein A5 and C3 gene polymorphisms with plasma triglyceride and lipid levels.
Apolipoprotein C3 is negatively associated with estrogen and mediates the protective effect of estrogen on hypertriglyceridemia in obese adults.
Title: Apolipoprotein C3 is negatively associated with estrogen and mediates the protective effect of estrogen on hypertriglyceridemia in obese adults.

Submit: New GeneRIF Correction See all GeneRIFs (272)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD13373 (e-PCR)
- UniSTS:294403

ECD13693 (e-PCR)
- UniSTS:294721

D11S4435 (e-PCR)
- UniSTS:17475

GDB:636456 (e-PCR)
- UniSTS:158544

ECD21211 (e-PCR)
- UniSTS:302208

GDB:178433 (e-PCR)
- UniSTS:155010

NoName (e-PCR)
- UniSTS:494764

ECD05062 (e-PCR)
- UniSTS:286128

ECD22293 (e-PCR)
- UniSTS:303281

ECD23843 (e-PCR)
- UniSTS:304827

REN72957 (e-PCR)
- UniSTS:397757

REN72958 (e-PCR)
- UniSTS:397758

REN72959 (e-PCR)
- UniSTS:397759

REN72960 (e-PCR)
- UniSTS:397760

REN72961 (e-PCR)
- UniSTS:397761

REN72962 (e-PCR)
- UniSTS:397762

GDB:176981 (e-PCR)
- UniSTS:154818

REN72963 (e-PCR)
- UniSTS:397763

REN72964 (e-PCR)
- UniSTS:397764

REN72965 (e-PCR)
- UniSTS:397765

REN72966 (e-PCR)
- UniSTS:397766

REN72967 (e-PCR)
- UniSTS:397767

REN72968 (e-PCR)
- UniSTS:397768

REN72969 (e-PCR)
- UniSTS:397769

REN72970 (e-PCR)
- UniSTS:397770

REN72971 (e-PCR)
- UniSTS:397771

REN72972 (e-PCR)
- UniSTS:397772

REN72973 (e-PCR)
- UniSTS:397773

REN72974 (e-PCR)
- UniSTS:397774

REN72975 (e-PCR)
- UniSTS:397775

REN72976 (e-PCR)
- UniSTS:397776

G44717 (e-PCR)
- UniSTS:95192

APOC3 (e-PCR)
- UniSTS:45016

ECD04073 (e-PCR)
- UniSTS:285152

GDB:180740 (e-PCR)
- UniSTS:155115

RH66448 (e-PCR)
- UniSTS:79601

D11S4370 (e-PCR)
- UniSTS:79602

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	IBA Inferred from Biological aspect of Ancestor more info
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	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

Component	Evidence Code	Pubs
part_of chylomicron	IBA Inferred from Biological aspect of Ancestor more info
part_of chylomicron	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in early endosome	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of intermediate-density lipoprotein particle	IBA Inferred from Biological aspect of Ancestor more info
part_of intermediate-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
part_of spherical high-density lipoprotein particle	IBA Inferred from Biological aspect of Ancestor more info
part_of spherical high-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
part_of very-low-density lipoprotein particle	IBA Inferred from Biological aspect of Ancestor more info
part_of very-low-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: apolipoprotein C-III

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.