APOC3 apolipoprotein C-III [Homo sapiens] - Gene

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Summary

Official Symbol: APOC3provided by HGNC
Official Full Name: apolipoprotein C-IIIprovided by HGNC
Primary source: HGNC:610
See related: Ensembl:ENSG00000110245; HPRD:00132; 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: HALP2; APOCIII; MGC150353
Summary: Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 11q23.1-q23.2

Sequence :: Chromosome: 11; NC_000011.9 (116700624..116703787)

See APOC3 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

APOC3 SNPs, alone or in combination, were not associated with insulin resistance, altered lipid levels, liver enzymes, and with liver damage (severity of steatosis, nonalcoholic steatohepatitis, and moderate/severe fibrosis)
Title: The APOC3 T-455C and C-482T promoter region polymorphisms are not associated with the severity of liver damage independently of PNPLA3 I148M genotype in patients with nonalcoholic fatty liver.
Our data did not support a relationship between the two polymorphisms of APOC3 gene and risk of coronary heart disease in the Han population in East China
Title: Lack of association between apolipoprotein C3 gene polymorphisms and risk of coronary heart disease in a Han population in East China.
Mdm2 inhibited p53-mediated enrichment of HNF4alpha to the ApoCIII promoter while simultaneously reducing p53 binding and increasing recruitment of SHP to the ApoCIII promoter.
Title: Mdm2 is a novel activator of ApoCIII promoter which is antagonized by p53 and SHP inhibition.
single nucleotide polymorphisms in apolipoproteins A-I, C3, A4, and A5, as modulated by dietary fat intake, appear to influence allostatic load parameters in Puerto Ricans
Title: The APOA1/C3/A4/A5 cluster and markers of allostatic load in the Boston Puerto Rican Health Study.
High apolipoprotein CIII is associated with hypertriglyceridemia
Title: Characterization of a hypertriglyceridemic transgenic miniature pig model expressing human apolipoprotein CIII.
The risk of coronary heart disease contributed by LDL appeared to result to a large extent from LDL that contains apoC-III.
Title: Low-density lipoproteins containing apolipoprotein C-III and the risk of coronary heart disease.
the ApoAI-CIII-AIV SacI polymorphism was associated with MI in Tunisian patients.
Title: Association of a DNA polymorphism of the apolipoprotein AI-CIII-AIV gene cluster with myocardial infarction in a Tunisian population.
The A allelic variant of the rs10892151 polymorphism is not associated with serum apo C-III concentration, but predisposes HIV-infected patients to less favorable lipid profile, particularly in those patients treated with protease inhibitors.
Title: Antiretroviral treatment-induced dyslipidemia in HIV-infected patients is influenced by the APOC3-related rs10892151 polymorphism.
there was no significant association between apolipoprotein C3 polymorphisms and fatty liver disease, lipid profiles, and insulin-resistance in Italian obese subjects
Title: Lack of effect of apolipoprotein C3 polymorphisms on indices of liver steatosis, lipid profile and insulin resistance in obese Southern Europeans.
Several common SNPs and their haplotypes in the ApoA1/C3/A5 gene cluster are closely associated with modifications of serum lipid parameters in the general Chinese population
Title: Apolipoprotein A1/C3/A5 haplotypes and serum lipid levels.

Submit: New GeneRIF Correction See all (127)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.

Common variants at 30 loci contribute to polygenic dyslipidemia.

Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:106842	BioGRID:113164	UBC		BioGRID	PubMed	Reconstituted Complex

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
Cdc42 protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
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
cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
chylomicron remnant clearance	IDA Inferred from Direct Assay more info	PubMed
high-density lipoprotein particle remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
lipid metabolic process	TAS Traceable Author Statement more info
lipid transport	IEA Inferred from Electronic Annotation more info
lipoprotein metabolic process	TAS Traceable Author Statement 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
reverse cholesterol transport	IC Inferred by Curator more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
transport	IEA Inferred from Electronic Annotation more info
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
triglyceride mobilization	IEA Inferred from Electronic Annotation more info
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
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

General protein information

Preferred Names: apolipoprotein C-III

Names: apolipoprotein C-III; apo-CIII; apoC-III; apolipoprotein C3

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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

NG_008949.1 RefSeqGene

Range

5001..8164

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

X01388

Consensus CDS

CCDS8377.1

UniProtKB/TrEMBL

A3KPE2

UniProtKB/Swiss-Prot

P02656

Related

ENSP00000227667, OTTHUMP00000043270, ENST00000227667, OTTHUMT00000106284

Conserved Domains (1) summary

pfam05778
Location:31 – 91
Blast Score: 200

Apo-CIII; Apolipoprotein CIII (Apo-CIII)

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

116700624..116703787

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

112632897..112636045

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP006216.1 (118955..122118)	None
genomic	AY422951.1	AAQ91810.1
genomic	AY555191.1	AAS68230.1
genomic	CH471065.1	EAW67272.1
		EAW67273.1
genomic	CQ924609.1	CAI23899.1
genomic	EF444950.1	ACA05940.1
		ACA05941.1
		ACA05942.1
genomic	J00098.1	AAB59515.1
genomic	M33043.1	AAB59372.1
genomic	X01392.1	CAA25648.1
genomic	X03120.1	CAA26895.1
mRNA	BC027977.1	AAH27977.1
mRNA	BC121081.1	AAI21082.1
mRNA	BC134419.1	AAI34420.1
mRNA	M28613.1	AAA51760.1
mRNA	M28614.1	AAA51761.1
mRNA	V01513.1	CAA24757.1
mRNA	X00567.1	CAA25233.1
mRNA	X01388.1	CAA25644.1
other-genetic	DQ892044.2	ABM82970.1
other-genetic	DQ895238.2	ABM86164.1