APOC1 apolipoprotein C-I [Homo sapiens] - Gene

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Summary

Official Symbol: APOC1provided by HGNC
Official Full Name: apolipoprotein C-Iprovided by HGNC
Primary source: HGNC:607
See related: Ensembl:ENSG00000130208; HPRD:00131; MIM:107710
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
Summary: The protein encoded by this gene is a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 19q13.2

Sequence :: Chromosome: 19; NC_000019.9 (45417921..45422606)

See APOC1 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 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?

The observed increase in apoC-I interface affinity due to higher degrees of apoC-I-palmitoyloleoylphosphatidylcholine/triolein/water interactions may explain how apoC-I can displace larger apolipoproteins, such as apoE, from lipoproteins.
Title: Apolipoprotein C-I binds more strongly to phospholipid/triolein/water than triolein/water interfaces: a possible model for inhibiting cholesterol ester transfer protein activity and triacylglycerol-rich lipoprotein uptake.
our approach, which is applicable to any set of interval scale traits that is heritable and exhibits evidence of phenotypic clustering, identified three new loci in or near APOC1, BRAP, and PLCG1, which were associated with multiple phenotype domains.
Title: A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains.
Results describe the association of ACE and APOC1 gene polymorphisms with susceptibility to Alzheimer's disease and dementia in general, both alone and combined with the APOE gene.
Title: Genetic influences on Alzheimer's disease: evidence of interactions between the genes APOE, APOC1 and ACE in a sample population from the South of Brazil.
variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits
Title: Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
Serum levels of apoC-I and apoC-III combined with other clinical parameters can serve as a basis for the formulation of a diagnostic score for stomach cancer patients
Title: Serum apolipoproteins C-I and C-III are reduced in stomach cancer patients: results from MALDI-based peptidome and immuno-based clinical assays.
New isoforms of apoC-I, were detected in the cohort of individuals with coronary artery disease using mass spectrometry while the expected apoC-I isoforms were absent.
Title: Isoforms of apolipoprotein C-I associated with individuals with coronary artery disease.
This study examines the association between APOE/C1/C4/C2 gene cluster variation using tagging single nucleotide polymorphisms and plasma lipid concentration along with risk of coronary heart disease in a prospective cohort.
Title: APOE/C1/C4/C2 gene cluster genotypes, haplotypes and lipid levels in prospective coronary heart disease risk among UK healthy men.
data show that apoCI genotype is associated with serum levels of triglycerides and CRP, confirming the role of apoCI in lipid metabolism and suggesting that it also influences inflammation
Title: Apolipoprotein C-I genotype and serum levels of triglycerides, C-reactive protein and coronary heart disease.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.

Submit: New GeneRIF Correction See all (54)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals.

A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.

Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.

Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.

Common variants at 30 loci contribute to polygenic dyslipidemia.

Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.

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

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus.

Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.

LDL-cholesterol concentrations: a genome-wide association study.

Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.

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.

Sorl1 as an Alzheimer's disease predisposition gene?

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Products	Interactant	Other Gene	Source	Pubs	Description
P02654	P02652	APOA2	HPRD	PubMed
P02654	P02654	APOC1	HPRD	PubMed
BioGRID:106838	BioGRID:106832	APOA1	BioGRID	PubMed	Two-hybrid
BioGRID:106838	BioGRID:119640	HMP19	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
fatty acid binding	IDA Inferred from Direct Assay more info	PubMed
lipase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
phosphatidylcholine binding	TAS Traceable Author Statement more info	PubMed
phosphatidylcholine-sterol O-acyltransferase activator activity	TAS Traceable Author Statement more info	PubMed
phospholipase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
cholesterol efflux	IDA Inferred from Direct Assay 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	TAS Traceable Author Statement more info	PubMed
lipid metabolic process	TAS Traceable Author Statement more info	PubMed
lipoprotein metabolic process	IEA Inferred from Electronic Annotation more info
negative regulation of cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
negative regulation of fatty acid biosynthetic process	IDA Inferred from Direct Assay 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 phosphatidylcholine catabolic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of receptor-mediated endocytosis	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
phospholipid efflux	IDA Inferred from Direct Assay more info	PubMed
plasma lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cholesterol esterification	TAS Traceable Author Statement more info	PubMed
regulation of cholesterol transport	IC Inferred by Curator more info	PubMed
regulation of lipid transport	IEA Inferred from Electronic Annotation more info
transport	IEA Inferred from Electronic Annotation more info
triglyceride metabolic process	IEA Inferred from Electronic Annotation more info
very-low-density lipoprotein particle assembly	TAS Traceable Author Statement more info	PubMed
very-low-density lipoprotein particle clearance	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
chylomicron	TAS Traceable Author Statement more info	PubMed
endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
extracellular region	IEA Inferred from Electronic Annotation more info
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-I

Names: apolipoprotein C-I; apo-CIB; apoC-IB; apolipoprotein C1

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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_012859.1 RefSeqGene

Range

5001..9686

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001645.3 → NP_001636.1 apolipoprotein C-I precursor

Status: REVIEWED

Source sequence(s)

AI310334, AI885116, BC009698

Consensus CDS

CCDS12648.1

UniProtKB/TrEMBL

B2R526

UniProtKB/Swiss-Prot

P02654

Related

ENSP00000252491, ENST00000252491

Conserved Domains (1) summary

pfam04691
Location:27 – 83
Blast Score: 172

ApoC-I; Apolipoprotein C-I (ApoC-1)

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_000019.9 Reference GRCh37.p5 Primary Assembly

Range

45417921..45422606

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

41848690..41853227

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC011481.4 (57486..62171)	None
genomic	AF050154.1	AAD02506.1
genomic	AY422954.1	AAQ91813.1
genomic	CH471126.1	EAW57307.1
		EAW57308.1
genomic	FJ525874.1	ACN81312.1
genomic	M20843.1	AAA51763.1
genomic	M20902.1	AAA88018.1
mRNA	AI310334.1	None
mRNA	AI885116.1	None
mRNA	AK225971.1	None
mRNA	AK312036.1	BAG34973.1
mRNA	BC009698.2	AAH09698.1
mRNA	BC055093.1	AAH55093.1
mRNA	BT007142.1	AAP35806.1
mRNA	CR456907.1	CAG33188.1
mRNA	M27359.1	AAA51762.1
mRNA	X00570.1	CAA25235.1
other-genetic	AM392727.1	CAL37605.1
other-genetic	GQ129384.1	ACT64518.1
other-genetic	GQ129385.1	ACT64519.1