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

    Gene ID: 1071, updated on 6-Sep-2021

    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
    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
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (56961950..56983845)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (56995862..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
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    enables phosphatidylcholine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipid transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phospholipid transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables triglyceride binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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 intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
     
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
      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 109.20210514

    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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