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

    Gene ID: 1071, updated on 8-Nov-2017
    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; 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
    Location:
    16q13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 member 3 Neighboring gene ribosomal protein S24 pseudogene 17 Neighboring gene homocysteine inducible ER protein with ubiquitin like domain 1 Neighboring gene cilia and flagella associated protein 69 pseudogene Neighboring gene NLR family CARD domain containing 5 Neighboring gene copine 2 Neighboring gene uncharacterized LOC105371289

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hyperalphalipoproteinemia
    MedGen: C0342883 OMIM: 143470 GeneReviews: Not available
    Compare labs

    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
    • Composition of Lipid Particles, organism-specific biosystem (from WikiPathways)
      Composition of Lipid Particles, organism-specific biosystemThis particle describes the chemical composition of various lipid particles. See also WP430 and other pathways. Additional sources - A. Goldberg, Overview of Lipid Metabolism, 2015. http://www.msdma...
    • 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 
    high-density lipoprotein particle remodeling TAS
    Traceable Author Statement
    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 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 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 
    regulation of cholesterol efflux IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    reverse cholesterol transport IC
    Inferred by Curator
    more info
    PubMed 
    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
    BPI fold containing family F
    cholesteryl ester transfer protein plasma
    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
      UniProtKB/TrEMBL
      A0A0S2Z3F6
      Related
      ENSP00000200676.3, OTTHUMP00000164380, ENST00000200676.7, OTTHUMT00000257059
      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_001286085.1NP_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
      A0A0S2Z3I8, B4DMZ5
      Related
      ENSP00000369106.2, OTTHUMP00000254426, ENST00000379780.6, 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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      56961923..56983844
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

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