CETP cholesteryl ester transfer protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: CETPprovided by HGNC
Official Full Name: cholesteryl ester transfer proteinprovided by HGNC
Primary source: HGNC:HGNC:1869
See related: Ensembl:ENSG00000087237 MIM:118470; AllianceGenome:HGNC:1869
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: The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Expression: Biased expression in spleen (RPKM 19.4), fat (RPKM 13.4) and 8 other tissues See more
Orthologs: all
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Genomic context

Location:: 16q13

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (56961950..56983845)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (62758278..62780157)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (56995862..57017757)

Chromosome 16 - NC_000016.10 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?

Association of CETP Gene Polymorphisms and Haplotypes with Acute Heart Rate Response to Exercise.
Title: Association of CETP Gene Polymorphisms and Haplotypes with Acute Heart Rate Response to Exercise.
Abdominal Obesity, Excessive Adiposity, and the Taq1B CETP Variant Are Positively Associated with Serum Lipid Levels in Mexican Women.
Title: Abdominal Obesity, Excessive Adiposity, and the Taq1B CETP Variant Are Positively Associated with Serum Lipid Levels in Mexican Women.
CETP gene polymorphisms and haplotypes are explanatory variables for HDL cholesterol level in sickle cell disease.
Title: CETP gene polymorphisms and haplotypes are explanatory variables for HDL cholesterol level in sickle cell disease.
CETP and APOA2 polymorphisms are associated with weight loss and healthy eating behavior changes in response to digital lifestyle modifications.
Title: CETP and APOA2 polymorphisms are associated with weight loss and healthy eating behavior changes in response to digital lifestyle modifications.
Interaction between CETP Taq1B polymorphism and dietary patterns on lipid profile and severity of coronary arteries stenosis in patients under coronary angiography: a cross-sectional study.
Title: Interaction between CETP Taq1B polymorphism and dietary patterns on lipid profile and severity of coronary arteries stenosis in patients under coronary angiography: a cross-sectional study.
Association of dyslipidemia with single nucleotide polymorphisms of the cholesteryl ester transfer protein gene and cardiovascular disease risk factors in a highly admixed population.
Title: Association of dyslipidemia with single nucleotide polymorphisms of the cholesteryl ester transfer protein gene and cardiovascular disease risk factors in a highly admixed population.
Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP.
Title: Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP.
Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene.
Title: Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene.
Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents.
Title: Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents.
Association of Common Variants of APOE, CETP, and the 9p21.3 Chromosomal Region with the Risk of Myocardial Infarction: A Prospective Study.
Title: Association of Common Variants of APOE, CETP, and the 9p21.3 Chromosomal Region with the Risk of Myocardial Infarction: A Prospective Study.

Submit: New GeneRIF Correction See all GeneRIFs (480)

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
Hyperalphalipoproteinemia 1 MedGen: C3149462 OMIM: 143470 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome wide association study identifies common variants associated with lipid levels in the Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of the metabolic syndrome in Indian Asian men. EBI GWAS Catalog EBI GWAS CatalogPubMed
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. EBI GWAS Catalog EBI GWAS CatalogPubMed
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variation near MC4R is associated with waist circumference and insulin resistance. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. 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 analysis identifies loci for type 2 diabetes and triglyceride levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. 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 biochemical traits in Korcula Island, Croatia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 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
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. 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
Identification of genetic markers associated with high-density lipoprotein-cholesterol by genome-wide screening in a Japanese population: the Suita study. 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
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels. 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
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. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seven new loci associated with age-related macular degeneration. 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
THOC5: a novel gene involved in HDL-cholesterol metabolism. 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

SHGC-6119 (e-PCR)
- UniSTS:542

D16S3244 (e-PCR)
- UniSTS:16234

PMC164606P1 (e-PCR)
- UniSTS:271497

PMC164606P10 (e-PCR)
- UniSTS:271498

PMC164606P11 (e-PCR)
- UniSTS:271499

PMC164606P2 (e-PCR)
- UniSTS:271503

PMC164606P3 (e-PCR)
- UniSTS:271504

PMC164606P4 (e-PCR)
- UniSTS:271505

PMC164606P5 (e-PCR)
- UniSTS:271506

PMC164606P7 (e-PCR)
- UniSTS:271507

PMC164606P8 (e-PCR)
- UniSTS:271508

PMC137182P4 (e-PCR)
- UniSTS:270825

PMC137182P5 (e-PCR)
- UniSTS:270826

STS-M30185 (e-PCR)
- UniSTS:44543

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cholesterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol binding	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables lipid binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylcholine binding	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipid transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables triglyceride binding	IBA Inferred from Biological aspect of Ancestor more info
enables triglyceride binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
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 cholesterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
involved_in high-density lipoprotein particle remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in high-density lipoprotein particle remodeling	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 lipid homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in low-density lipoprotein particle remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in low-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of macrophage derived foam cell differentiation	IC Inferred by Curator more info	PubMed
involved_in phosphatidylcholine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylcholine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phospholipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reverse cholesterol transport	IC Inferred by Curator more info	PubMed
involved_in triglyceride homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in triglyceride metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in triglyceride transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride transport	IDA Inferred from Direct Assay more info	PubMed
involved_in very-low-density lipoprotein particle remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in very-low-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
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 high-density lipoprotein particle	IBA Inferred from Biological aspect of Ancestor more info
part_of high-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cholesteryl ester transfer protein

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

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

NG_008952.1 RefSeqGene

Range

5028..26923

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000078.3 → NP_000069.2 cholesteryl ester transfer protein isoform 1 precursor

See identical proteins and their annotated locations for NP_000069.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA999853, AC023825, M30185

Consensus CDS

CCDS10772.1

UniProtKB/Swiss-Prot

P11597, Q13987, Q13988, Q53YZ1

UniProtKB/TrEMBL

A0A0S2Z3F6, A8K6C1

Related

ENSP00000200676.3, ENST00000200676.8

Conserved Domains (2) summary

smart00328
Location:31 → 257

BPI1; BPI/LBP/CETP N-terminal domain

cl00188
Location:243 → 480

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 ...
NM_001286085.2 → NP_001273014.1 cholesteryl ester transfer protein isoform 2 precursor

See identical proteins and their annotated locations for NP_001273014.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC023825, AK297699

Consensus CDS

CCDS67032.1

UniProtKB/TrEMBL

A0A0S2Z3I8, B4DMZ5

Related

ENSP00000369106.2, ENST00000379780.6

Conserved Domains (2) summary

cd00025
Location:27 → 252

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:250 → 420

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

56961950..56983845

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006721124.4 → XP_006721187.1 cholesteryl ester transfer protein isoform X1

Conserved Domains (1) summary

cd00025
Location:27 → 250

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 ...