CETP cholesteryl ester transfer protein, plasma [Homo sapiens] - Gene

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Summary

Official Symbol: CETPprovided by HGNC
Official Full Name: cholesteryl ester transfer protein, plasmaprovided by HGNC
Primary source: HGNC:1869
See related: Ensembl:ENSG00000087237; HPRD:00325; MIM:118470; Vega:OTTHUMG00000133279
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: BPIFF; HDLCQ10
Summary: Cholesteryl ester transfer protein (CETP) transfers cholesteryl esters between lipoproteins. CETP may effect susceptibility to atherosclerosis. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 16q21

Sequence :: Chromosome: 16; NC_000016.9 (56995835..57017756)

See CETP in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 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?

There are more rare CETP gene mutations in Japanese, and these multiple rare mutations alone or a combination with each of prevalent mutations is responsible for mild-to-moderate or marked hyperalphalipoproteinemia, respectively.
Title: Novel mutations of cholesteryl ester transfer protein (CETP) gene in Japanese hyperalphalipoproteinemic subjects.
cholesteryl ester transfer rather than plasma cholesteryl ester transfer protein mass may have a role in cardiovascular risk
Title: High plasma cholesteryl ester transfer but not CETP mass predicts incident cardiovascular disease: a nested case-control study.
CETP modulator dalcetrapib specifically increased markers of cholesterol absorption in healthy subjects.
Title: Effect of dalcetrapib, a CETP modulator, on non-cholesterol sterol markers of cholesterol homeostasis in healthy subjects.
presence of the B1B1 Taq1B CETP genotype contributes to the presence of diabetes, independently of age, sex, BMI and waist. However, among carriers of B1B1, the presence of GG genotype of the -250 LIPC polymorphism increases this risk further
Title: Interaction between cholesteryl ester transfer protein and hepatic lipase encoding genes and the risk of type 2 diabetes: results from the Telde study.
the CETP B1 allele is associated with increased risk of CAD and T2DM independent of plasma HDL-C level in our population.
Title: Association between cholesteryl ester transfer protein TaqIB variants and risk of coronary artery disease and diabetes mellitus in the population of western Iran.
AAV8-mediated overexpression of human LCAT in hCETP/Ldlr(+/-) mice resulted in profound changes in plasma lipid profiles.
Title: AAV8-mediated long-term expression of human LCAT significantly improves lipid profiles in hCETP;Ldlr(+/-) mice.
genetic association studies in population in Greece: A polymorphism in first intron of CETP is associated with coronary artery disease (but cannot distinguish between LMCAD and MPCAD); a polymorphism in exon 14 (I405V) is not associated with CAD.
Title: The role of common variants of the cholesteryl ester transfer protein gene in left main coronary artery disease.
genetic association studies in population in India: An SNP in CETP promoter (-629C>A) is associated with patients with both cardiovascular disease and type 2 diabetes.
Title: The relationship of ACE and CETP gene polymorphisms with cardiovascular disease in a cohort of Asian Indian patients with and those without type 2 diabetes.
these data suggest a new mechanism by which apoA-I stimulates CETP secretion, in addition to apoE, from lipid loaded macrophages, a process involving NF-kappaB inhibition and/or PKA pathway activation.
Title: Apolipoprotein A-I stimulates cholesteryl ester transfer protein and apolipoprotein E secretion from lipid-loaded macrophages; the role of NF-κB and PKA signaling pathways.
Suggest that smaller LDL size, which is associated with higher levels of triglycerides and CETP and the hepatic lipase CC genotype, may serve as a risk factor for coronary artery disease in hemodialysis patients.
Title: Smaller low-density lipoprotein size as a possible risk factor for the prevalence of coronary artery diseases in haemodialysis patients: associations of cholesteryl ester transfer protein and the hepatic lipase gene polymorphism with low-density lipoprotein size.

Submit: New GeneRIF Correction See all (243)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

A genome-wide association study of the metabolic syndrome in Indian Asian men.

Biological, clinical and population relevance of 95 loci for blood lipids.

Common genetic variation near MC4R is associated with waist circumference and insulin resistance.

Common variants at 30 loci contribute to polygenic dyslipidemia.

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

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

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

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

Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions.

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

Genome-wide association study of biochemical traits in Korcula Island, Croatia.

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

High density lipoprotein cholesterol level QTL 10

MIM: 143470

Identification of genetic markers associated with high-density lipoprotein-cholesterol by genome-wide screening in a Japanese population: the Suita study.

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

Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.

Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels.

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

Polymorphism in the CETP gene region, HDL cholesterol, and risk of future myocardial infarction: Genomewide analysis among 18 245 initially healthy women from the Women's Genome Health Study.

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	Source	Pubs	Description
P11597	P02647	APOA1	HPRD	PubMed
P11597	O15145	ARPC3	HPRD	PubMed
P11597	P11597	CETP	HPRD	PubMed
P11597	Q01844	EWSR1	HPRD	PubMed
P11597	P06858	LPL	HPRD	PubMed
BioGRID:107498	BioGRID:108431	EWSR1	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
cholesterol binding	IDA Inferred from Direct Assay more info	PubMed
cholesterol transporter activity	IDA Inferred from Direct Assay more info	PubMed
lipid binding	IDA Inferred from Direct Assay more info	PubMed
lipid transporter activity	IDA Inferred from Direct Assay more info	PubMed
phosphatidylcholine binding	IDA Inferred from Direct Assay more info	PubMed
phospholipid transporter activity	IDA Inferred from Direct Assay more info	PubMed
triglyceride binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
high-density lipoprotein particle remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
lipid homeostasis	IDA Inferred from Direct Assay more info	PubMed
lipid metabolic process	TAS Traceable Author Statement more info
lipid transport	IDA Inferred from Direct Assay more info	PubMed
lipoprotein metabolic process	TAS Traceable Author Statement more info
low-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed
negative regulation of macrophage derived foam cell differentiation	IC Inferred by Curator more info	PubMed
phosphatidylcholine metabolic process	IDA Inferred from Direct Assay more info	PubMed
phospholipid homeostasis	IDA Inferred from Direct Assay more info	PubMed
phospholipid transport	IDA Inferred from Direct Assay more info	PubMed
receptor-mediated endocytosis	TAS Traceable Author Statement more info
regulation of cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
reverse cholesterol transport	IC Inferred by Curator more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
steroid metabolic process	IEA Inferred from Electronic Annotation more info
transport	IEA Inferred from Electronic Annotation more info
triglyceride homeostasis	IDA Inferred from Direct Assay more info	PubMed
triglyceride metabolic process	IDA Inferred from Direct Assay more info	PubMed
very-low-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
extracellular region	TAS Traceable Author Statement more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
high-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: cholesteryl ester transfer protein

Names: cholesteryl ester transfer protein; lipid transfer protein I; BPI fold containing family F

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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_008952.1 RefSeqGene

Range

5001..26922

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000078.2 → NP_000069.2 cholesteryl ester transfer protein precursor

Status: REVIEWED

Source sequence(s)

AA999853, M30185

Consensus CDS

CCDS10772.1

UniProtKB/Swiss-Prot

P11597

Related

ENSP00000200676, OTTHUMP00000164380, ENST00000200676, OTTHUMT00000257059

Conserved Domains (2) summary

cd00025
Location:27 – 254
Blast Score: 516

BPI1; BPI/LBP/CETP N-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) N-terminal domain; binds to and neutralizes lipopolysaccharides from the outer ...

cl00188
Location:277 – 479
Blast Score: 267

BPI; BPI/LBP/CETP domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) domain; binds to and neutralizes lipopolysaccharides from the outer membrane of Gram-negative ...

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_000016.9 Reference GRCh37.p5 Primary Assembly

Range

56995835..57017756

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

42865207..42887119

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC012181.8	None
genomic	AC023825.8 (195366..211317)	None
genomic	AF027656.1	AAB86604.1
genomic	AY008270.1	AAG21822.1
genomic	AY172980.1	AAO12735.1
genomic	AY422211.1	AAR03500.1
genomic	CH471092.1	EAW82896.1
		EAW82897.1
genomic	M32998.1	AAA51978.1
genomic	U71187.1	AAD14876.1
mRNA	AA999853.1	None
mRNA	AK291586.1	BAF84275.1
mRNA	AK297699.1	BAG60057.1
mRNA	BC025739.1	AAH25739.1
mRNA	BT020064.1	AAV38867.1
mRNA	M30185.1	AAA51977.1
mRNA	M83573.1	AAB59388.1
other-genetic	EU176529.1	ABW03330.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P11597.2	GenPept	UniProtKB/Swiss-Prot:P11597
Q5TZS4	GenPept	UniProtKB/TrEMBL:Q5TZS4
Q8IWL9	GenPept	UniProtKB/TrEMBL:Q8IWL9
Q9H4L8	GenPept	UniProtKB/TrEMBL:Q9H4L8