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

Gene ID: 1071, updated on 10-Dec-2024

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CETP in Genome Data Viewer
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_000016.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:56965546-56966100 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:56966101-56966655 Neighboring gene Sharpr-MPRA regulatory region 13851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7518 Neighboring gene homocysteine inducible ER protein with ubiquitin like domain 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10863 Neighboring gene uncharacterized LOC124903811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10865 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:56984965-56985465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56995483-56996470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56996471-56997458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10866 Neighboring gene Sharpr-MPRA regulatory region 2679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57016890-57017390 Neighboring gene uncharacterized LOC124903696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57023277-57023776 Neighboring gene Sharpr-MPRA regulatory region 12884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10869 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:57033747-57034248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10870 Neighboring gene NLR family CARD domain containing 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10871 Neighboring gene CFAP69 pseudogene 1

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
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
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
EBI GWAS Catalog
A genome-wide association study of the metabolic syndrome in Indian Asian men.
EBI GWAS Catalog
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Common genetic variation near MC4R is associated with waist circumference and insulin resistance.
EBI GWAS Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
EBI GWAS Catalog
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS 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.
EBI GWAS Catalog
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
EBI GWAS Catalog
Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
EBI GWAS Catalog
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
EBI GWAS Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
EBI GWAS Catalog
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
EBI GWAS Catalog
Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions.
EBI GWAS Catalog
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
EBI GWAS Catalog
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
EBI GWAS Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
EBI GWAS Catalog
Genome-wide association study of biochemical traits in Korcula Island, Croatia.
EBI GWAS Catalog
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
EBI GWAS Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
EBI GWAS 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.
EBI GWAS Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
EBI GWAS Catalog
Identification of genetic markers associated with high-density lipoprotein-cholesterol by genome-wide screening in a Japanese population: the Suita study.
EBI GWAS Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
EBI GWAS Catalog
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
EBI GWAS Catalog
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
EBI GWAS Catalog
Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels.
EBI GWAS Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
EBI GWAS Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
EBI GWAS 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.
EBI GWAS Catalog
Seven new loci associated with age-related macular degeneration.
EBI GWAS Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
EBI GWAS Catalog
THOC5: a novel gene involved in HDL-cholesterol metabolism.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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

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)

NEW Try the new Transcript table

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, Q13987, Q13988, Q53YZ1
    UniProtKB/TrEMBL
    A0A0S2Z3F6, A8K6C1
    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: 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

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006721124.4XP_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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    62758278..62780157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379400.1XP_054235375.1  cholesteryl ester transfer protein isoform X1