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

Gene ID: 1071, updated on 24-Nov-2020

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
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

Genomic context

See CETP in Genome Data Viewer
Location:
16q13
Exon count:
17
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (56961950..56983845)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (56995835..57017757)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 12 member 3 Neighboring gene ribosomal protein S24 pseudogene 17 Neighboring gene homocysteine inducible ER protein with ubiquitin like domain 1 Neighboring gene Sharpr-MPRA regulatory region 2679 Neighboring gene Sharpr-MPRA regulatory region 12884 Neighboring gene NLR family CARD domain containing 5 Neighboring gene cilia and flagella associated protein 69 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
GeneReviews: Not available
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
GeneReviews: Not available
A genome-wide association study of the metabolic syndrome in Indian Asian men.
GeneReviews: Not available
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
GeneReviews: Not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Common genetic variation near MC4R is associated with waist circumference and insulin resistance.
GeneReviews: Not available
Common variants at 30 loci contribute to polygenic dyslipidemia.
GeneReviews: Not available
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
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.
GeneReviews: Not available
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
GeneReviews: Not available
Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
GeneReviews: Not available
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
GeneReviews: Not available
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
GeneReviews: Not available
Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions.
GeneReviews: Not available
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
GeneReviews: Not available
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
GeneReviews: Not available
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
GeneReviews: Not available
Genome-wide association study of biochemical traits in Korcula Island, Croatia.
GeneReviews: Not available
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
GeneReviews: Not available
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.
GeneReviews: Not available
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
GeneReviews: Not available
Hyperalphalipoproteinemia 1
MedGen: C3149462 OMIM: 143470 GeneReviews: Not available
Compare labs
Identification of genetic markers associated with high-density lipoprotein-cholesterol by genome-wide screening in a Japanese population: the Suita study.
GeneReviews: Not available
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
GeneReviews: Not available
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
GeneReviews: Not available
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
GeneReviews: Not available
Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels.
GeneReviews: Not available
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
GeneReviews: Not available
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available
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.
GeneReviews: Not available
Seven new loci associated with age-related macular degeneration.
GeneReviews: Not available
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
GeneReviews: Not available
THOC5: a novel gene involved in HDL-cholesterol metabolism.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol transfer activity IDA
Inferred from Direct Assay
more info
PubMed 
lipid binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine binding IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cholesterol homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol metabolic process IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
high-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
high-density lipoprotein particle remodeling TAS
Traceable Author Statement
more info
 
intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
lipid homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
lipid transport IDA
Inferred from Direct Assay
more info
PubMed 
low-density lipoprotein particle remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
low-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
low-density lipoprotein particle remodeling TAS
Traceable Author Statement
more info
 
negative regulation of macrophage derived foam cell differentiation IC
Inferred by Curator
more info
PubMed 
phosphatidylcholine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid transport IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phospholipid transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
reverse cholesterol transport IC
Inferred by Curator
more info
PubMed 
triglyceride homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride transport IDA
Inferred from Direct Assay
more info
PubMed 
very-low-density lipoprotein particle remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
very-low-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle IBA
Inferred from Biological aspect of Ancestor
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
BPI fold containing family F
cholesteryl ester transfer protein plasma
lipid transfer protein I

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

  1. NG_008952.1 RefSeqGene

    Range
    5028..26923
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000078.3NP_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
    UniProtKB/TrEMBL
    A0A0S2Z3F6
    Related
    ENSP00000200676.3, ENST00000200676.8
    Conserved Domains (2) summary
    smart00328
    Location:31257
    BPI1; BPI/LBP/CETP N-terminal domain
    cl00188
    Location:243480
    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 ...
  2. NM_001286085.2NP_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:27252
    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:250420
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    56961950..56983845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721124.3XP_006721187.1  cholesteryl ester transfer protein isoform X1

    Conserved Domains (1) summary
    cd00025
    Location:27250
    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 ...
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