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Aliases for CETP Gene

Aliases for CETP Gene

  • Cholesteryl Ester Transfer Protein 2 3 3 5
  • BPI Fold Containing Family F 2 3
  • Lipid Transfer Protein I 3 4
  • Cholesteryl Ester Transfer Protein, Plasma 2
  • Cholesteryl Ester Transfer Protein Plasma 3
  • HDLCQ10 3
  • BPIFF 3

External Ids for CETP Gene

Previous GeneCards Identifiers for CETP Gene

  • GC16M047282
  • GC16P057046
  • GC16P056730
  • GC16P056771
  • GC16P055553
  • GC16P042865

Summaries for CETP Gene

Entrez Gene Summary for CETP Gene

  • 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]

GeneCards Summary for CETP Gene

CETP (Cholesteryl Ester Transfer Protein) is a Protein Coding gene. Diseases associated with CETP include Hyperalphalipoproteinemia 1 and Aortic Atherosclerosis. Among its related pathways are Lipoprotein metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include lipid binding and lipid transporter activity.

UniProtKB/Swiss-Prot for CETP Gene

  • Involved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles. Allows the net movement of cholesteryl ester from high density lipoproteins/HDL to triglyceride-rich very low density lipoproteins/VLDL, and the equimolar transport of triglyceride from VLDL to HDL (PubMed:3600759, PubMed:24293641). Regulates the reverse cholesterol transport, by which excess cholesterol is removed from peripheral tissues and returned to the liver for elimination (PubMed:17237796).

Tocris Summary for CETP Gene

  • When glucose supplies are low, the body is able to draw upon lipids as an alternative energy source. Lipids are generally stored as triglycerides and the first step in lipid metabolism is the conversion to glycerol and fatty acids which then enter the Krebs cycle.

Gene Wiki entry for CETP Gene

Additional gene information for CETP Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CETP Gene

Genomics for CETP Gene

GeneHancer (GH) Regulatory Elements for CETP Gene

Promoters and enhancers for CETP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J056950 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 650.4 -10.3 -10328 1.3 HDGF ZFP64 ARID4B ZNF2 ZNF48 GLIS2 ARID2 ZNF143 ATF7 RUNX3 CETP NLRC5 GC16M056953 ENSG00000261114
GH16J056961 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 650.7 +0.2 248 1.4 NR2F2 CETP GC16M056955 NLRC5 HERPUD1
GH16J056930 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.8 -26.3 -26331 10.1 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 HERPUD1 RSPRY1 NUP93 NUDT21 POLR2C CETP SLC12A3 LOC105371286 ENSG00000261270 NLRC5
GH16J057035 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 +77.7 77681 8.5 HDGF SMAD1 RB1 ZNF133 BMI1 YBX1 BATF KLF5 IRF4 ZNF143 NLRC5 GC16P057038 CETP LOC100130044 MT1E FAM192A GC16P057053
GH16J056997 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +38.0 38048 4 HDGF PKNOX1 RB1 KLF5 ZNF143 ATF7 FOS ETV6 IKZF2 RUNX3 CETP NLRC5 GC16M057013
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CETP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CETP gene promoter:

Genomic Locations for CETP Gene

Genomic Locations for CETP Gene
chr16:56,961,850-56,983,845
(GRCh38/hg38)
Size:
21,996 bases
Orientation:
Plus strand
chr16:56,995,762-57,017,757
(GRCh37/hg19)

Genomic View for CETP Gene

Genes around CETP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CETP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CETP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CETP Gene

Proteins for CETP Gene

  • Protein details for CETP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11597-CETP_HUMAN
    Recommended name:
    Cholesteryl ester transfer protein
    Protein Accession:
    P11597
    Secondary Accessions:
    • Q13987
    • Q13988
    • Q53YZ1

    Protein attributes for CETP Gene

    Size:
    493 amino acids
    Molecular mass:
    54756 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CETP Gene

    Alternative splice isoforms for CETP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CETP Gene

Post-translational modifications for CETP Gene

  • Glycosylation at posLast=413413, posLast=358358, Asn257, and Asn105
  • Modification sites at PhosphoSitePlus

Other Protein References for CETP Gene

No data available for DME Specific Peptides for CETP Gene

Domains & Families for CETP Gene

Gene Families for CETP Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry

P11597

UniProtKB/Swiss-Prot:

CETP_HUMAN :
  • Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.
Family:
  • Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.
genes like me logo Genes that share domains with CETP: view

Function for CETP Gene

Molecular function for CETP Gene

UniProtKB/Swiss-Prot Function:
Involved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles. Allows the net movement of cholesteryl ester from high density lipoproteins/HDL to triglyceride-rich very low density lipoproteins/VLDL, and the equimolar transport of triglyceride from VLDL to HDL (PubMed:3600759, PubMed:24293641). Regulates the reverse cholesterol transport, by which excess cholesterol is removed from peripheral tissues and returned to the liver for elimination (PubMed:17237796).
GENATLAS Biochemistry:
cholesteryl ester transfer protein,plasma,with low homology to LBP expressed in and throughout differentiation of preadypocyte

Phenotypes From GWAS Catalog for CETP Gene

Gene Ontology (GO) - Molecular Function for CETP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005319 lipid transporter activity IDA 2833496
GO:0005548 phospholipid transporter activity IDA 2833496
GO:0008289 lipid binding IEA,IDA 3818596
GO:0015485 cholesterol binding IDA 2833496
GO:0017127 cholesterol transporter activity IEA,IDA 2833496
genes like me logo Genes that share ontologies with CETP: view
genes like me logo Genes that share phenotypes with CETP: view

Human Phenotype Ontology for CETP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for CETP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CETP Gene

Localization for CETP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CETP Gene

Secreted, extracellular space. Note=Secreted in plasma. {ECO:0000250 UniProtKB:P47896}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CETP gene
Compartment Confidence
extracellular 5
peroxisome 2
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CETP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA,IEA 3104518
GO:0031982 vesicle IDA 2833496
GO:0034364 high-density lipoprotein particle IEA,IDA 3104518
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with CETP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CETP Gene

Pathways & Interactions for CETP Gene

genes like me logo Genes that share pathways with CETP: view

Gene Ontology (GO) - Biological Process for CETP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006641 triglyceride metabolic process IDA 2833496
GO:0006869 lipid transport IDA 3818596
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IMP 2586614
genes like me logo Genes that share ontologies with CETP: view

No data available for SIGNOR curated interactions for CETP Gene

Drugs & Compounds for CETP Gene

(55) Drugs for CETP Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
atorvastatin Approved Pharma Competitive, Inhibitor 0
Fluvastatin Approved Pharma Competitive, Inhibitor HMGCR inhibitor 62
Lovastatin Approved, Investigational Pharma Competitive, Inhibitor, Full agonist, Agonist HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 68
Pravastatin Approved Pharma Competitive, Inhibitor 154
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 537

(32) Additional Compounds for CETP Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Triglycerides Group B
  • 1-Myristoyl-2-pentadecanoyl-3-nervonoyl-glycerol
  • 1-Tetradecanoyl-2-pentadecanoyl-3-(15Z-tetracosanoyl)-glycerol
  • TAG(14:0/15:0/24:1)
  • TAG(53:1)
  • TG(14:0/15:0/24:1)
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7
Triglycerides Group D
  • 2,3-Di(octadecanoyloxy)propyl octadecanoate
  • Glyceryl tristearate
  • Stearic acid triglycerin ester
  • Stearin
  • Trioctadecanoin
620-64-4

(2) Tocris Compounds for CETP Gene

Compound Action Cas Number
N-Acetyltryptamine Substrate for serotonin N-acetyl transferase 1016-47-3
SKF 91488 dihydrochloride Histamine N-methyltransferase inhibitor 68941-21-9

(4) ApexBio Compounds for CETP Gene

Compound Action Cas Number
Anacetrapib (MK-0859) RhCETP/mutant CETP(C13S) inhibitor 875446-37-0
Dalcetrapib (JTT-705, RO4607381) rhCETP inhibitor 211513-37-0
Evacetrapib (LY2484595) CETP inhibitor,potent and selective 1186486-62-3
Torcetrapib CETP inhibitor 262352-17-0
genes like me logo Genes that share compounds with CETP: view

Drug Products

Transcripts for CETP Gene

mRNA/cDNA for CETP Gene

Unigene Clusters for CETP Gene

Cholesteryl ester transfer protein, plasma:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CETP Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1:
SP2: -

Relevant External Links for CETP Gene

GeneLoc Exon Structure for
CETP
ECgene alternative splicing isoforms for
CETP

Expression for CETP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CETP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CETP Gene

This gene is overexpressed in Spleen (x16.8) and Adipose - Visceral (Omentum) (x6.8).

Protein differential expression in normal tissues from HIPED for CETP Gene

This gene is overexpressed in Plasma (31.4), Urine (21.6), and Cervix (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CETP Gene



Protein tissue co-expression partners for CETP Gene

NURSA nuclear receptor signaling pathways regulating expression of CETP Gene:

CETP

SOURCE GeneReport for Unigene cluster for CETP Gene:

Hs.89538

mRNA Expression by UniProt/SwissProt for CETP Gene:

P11597-CETP_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for CETP Gene

  • Liver(4.6)
  • Spleen(4.4)
  • Bone marrow(4.1)
  • Pancreas(4)
  • Blood(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CETP Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
Regions:
Head and neck:
  • ear
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • liver
  • small intestine
General:
  • blood vessel
genes like me logo Genes that share expression patterns with CETP: view

Orthologs for CETP Gene

This gene was present in the common ancestor of chordates.

Orthologs for CETP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CETP 34 33
  • 99.26 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CETP 34
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CETP 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves CETP 34 33
  • 60.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CETP 34
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cetp 33
  • 60.62 (n)
zebrafish
(Danio rerio)
Actinopterygii cetp 34 33
  • 54.07 (n)
OneToOne
Species where no ortholog for CETP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CETP Gene

ENSEMBL:
Gene Tree for CETP (if available)
TreeFam:
Gene Tree for CETP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CETP: view image

Paralogs for CETP Gene

No data available for Paralogs for CETP Gene

Variants for CETP Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CETP Gene

CETP_HUMAN-P11597
Genetic variations in CETP define the high density lipoprotein cholesterol level quantitative trait locus 10 (HDLCQ10) [MIM:143470].

Sequence variations from dbSNP and Humsavar for CETP Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs138298866 likely-benign, Hyperalphalipoproteinemia 56,978,126(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs140547417 likely-benign, Hyperalphalipoproteinemia 56,975,110(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs142117489 likely-benign, Hyperalphalipoproteinemia 56,962,063(+) C/A/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs142459781 Hyperalphalipoproteinemia 1 (HALP1) [MIM:143470] 56,973,475(+) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
rs144375086 uncertain-significance, Hyperalphalipoproteinemia 56,983,381(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for CETP Gene

Variant ID Type Subtype PubMed ID
nsv1059098 CNV gain 25217958
nsv524073 CNV loss 19592680
nsv527160 CNV gain 19592680

Variation tolerance for CETP Gene

Residual Variation Intolerance Score: 54.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.80; 58.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CETP Gene

Human Gene Mutation Database (HGMD)
CETP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CETP

SNP Genotyping and Copy Number Assay Products

Disorders for CETP Gene

MalaCards: The human disease database

(29) MalaCards diseases for CETP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperalphalipoproteinemia 1
  • halp1
aortic atherosclerosis
  • atherosclerosis of aorta
basilar artery insufficiency
  • basilar artery syndrome
coronary stenosis
  • coronary artery stenosis
coronary restenosis
- elite association - COSMIC cancer census association via MalaCards
Search CETP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CETP_HUMAN
  • Hyperalphalipoproteinemia 1 (HALP1) [MIM:143470]: A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. {ECO:0000269 PubMed:12091484, ECO:0000269 PubMed:2215607, ECO:0000269 PubMed:8408659}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for CETP Gene

elevated lipoprotein,high density (HDL) with coronary heart disease (Japanese-American men)

Additional Disease Information for CETP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CETP: view

Publications for CETP Gene

  1. Cholesteryl ester transfer protein (CETP) genotype and reduced CETP levels associated with decreased prevalence of hypertension. (PMID: 20511482) Schechter CB … Atzmon G (Mayo Clinic proceedings 2010) 3 22 44 58
  2. The effect of a novel intergenic polymorphism (rs11774572) on HDL-cholesterol concentrations depends on TaqIB polymorphism in the cholesterol ester transfer protein gene. (PMID: 19364639) Junyent M … Ordovas JM (Nutrition, metabolism, and cardiovascular diseases : NMCD 2010) 3 22 44 58
  3. Influence of menopause and cholesteryl ester transfer protein (CETP) TaqIB polymorphism on lipid profile and HDL subpopulations distribution in women with and without type 2 diabetes. (PMID: 20006332) Russo GT … Asztalos B (Atherosclerosis 2010) 3 22 44 58
  4. Separating the mechanism-based and off-target actions of cholesteryl ester transfer protein inhibitors with CETP gene polymorphisms. (PMID: 20026784) Sofat R … Casas JP (Circulation 2010) 3 22 44 58
  5. The environmental and genetic evidence for the association of hyperlipidemia and hypertension. (PMID: 19155782) Ruixing Y … Shangling P (Journal of hypertension 2009) 3 22 44 58

Products for CETP Gene

Sources for CETP Gene

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