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

Gene ID: 1071, updated on 19-Apr-2015
Official Symbol
CETPprovided by HGNC
Official Full Name
cholesteryl ester transfer protein, plasmaprovided by HGNC
Primary source
HGNC: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
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]
Orthologs
See CETP in MapViewer
Location:
16q21
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (56961923..56983844)
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 (sodium/chloride transporter), member 3 Neighboring gene ribosomal protein S24 pseudogene 17 Neighboring gene homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 Neighboring gene cilia and flagella associated protein 69 pseudogene Neighboring gene NLR family, CARD domain containing 5 Neighboring gene copine II Neighboring gene uncharacterized LOC105371289

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hyperalphalipoproteinemia
MedGen: C0342883 OMIM: 143470 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
NHGRI GWA Catalog
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
NHGRI GWA Catalog
A genome-wide association study of the metabolic syndrome in Indian Asian men.
NHGRI GWA Catalog
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common genetic variation near MC4R is associated with waist circumference and insulin resistance.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
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.
NHGRI GWA Catalog
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
NHGRI GWA Catalog
Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
NHGRI GWA Catalog
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
NHGRI GWA Catalog
Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions.
NHGRI GWA Catalog
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
NHGRI GWA Catalog
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog
Genome-wide association study of biochemical traits in Korcula Island, Croatia.
NHGRI GWA Catalog
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
NHGRI GWA Catalog
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.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog
Identification of genetic markers associated with high-density lipoprotein-cholesterol by genome-wide screening in a Japanese population: the Suita study.
NHGRI GWA Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
NHGRI GWA Catalog
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
NHGRI GWA Catalog
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
NHGRI GWA Catalog
Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels.
NHGRI GWA Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog
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.
NHGRI GWA Catalog
Seven new loci associated with age-related macular degeneration.
NHGRI GWA Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
NHGRI GWA Catalog
THOC5: a novel gene involved in HDL-cholesterol metabolism.
NHGRI GWA Catalog
  • HDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
    HDL-mediated lipid transport, organism-specific biosystemHDL particles play a central role in the reverse transport of cholesterol, the process by which cholesterol in tissues other than the liver is returned to the liver for conversion to bile salts and e...
  • LDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
    LDL-mediated lipid transport, organism-specific biosystemLDL (low density lipoproteins) are complexes of a single molecule of apoprotein B-100 (apoB-100) non-covalently associated with triacylglycerol, free cholesterol, cholesterol esters, and phospholipid...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Statin Pathway, organism-specific biosystem (from WikiPathways)
    Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
  • Statin Pathway, organism-specific biosystem (from WikiPathways)
    Statin Pathway, organism-specific biosystemWhat are statins? See Wikipedia at: http://en.wikipedia.org/wiki/Statin More about this pathway and statins: https://www.pharmgkb.org/do/serve?objId=PA2031&objCls=Pathway
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

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 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 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
 
triglyceride homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride transport 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 exosome 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 
high-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 
vesicle IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
cholesteryl ester transfer protein
Names
cholesteryl ester transfer protein
BPI fold containing family F
lipid transfer protein I

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
    5001..26922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000078.2NP_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, M30185
    Consensus CDS
    CCDS10772.1
    UniProtKB/Swiss-Prot
    P11597
    Related
    ENSP00000200676, OTTHUMP00000164380, ENST00000200676, OTTHUMT00000257059
    Conserved Domains (2) summary
    cd00025
    Location:27254
    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 ...
    pfam02886
    Location:243480
    LBP_BPI_CETP_C; LBP / BPI / CETP family, C-terminal domain
  2. NM_001286085.1NP_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
    B4DMZ5
    Related
    ENSP00000369106, OTTHUMP00000254426, ENST00000379780, OTTHUMT00000432303
    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 Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    56961923..56983844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721124.2XP_006721187.1  

    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 ...

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    58403764..58425674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)