Gene/Proteome Database (LMPD)
LMPD ID
LMP012380
Gene ID
Species
Homo sapiens (Human)
Gene Name
cholesteryl ester transfer protein, plasma
Gene Symbol
Synonyms
BPIFF; HDLCQ10;
Chromosome
16
Map Location
16q21
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
Proteins
| cholesteryl ester transfer protein isoform 1 precursor | |
|---|---|
| Refseq ID | NP_000069 |
| Protein GI | 169636439 |
| UniProt ID | P11597 |
| mRNA ID | NM_000078 |
| Length | 493 |
| MLAATVLTLALLGNAHACSKGTSHEAGIVCRITKPALLVLNHETAKVIQTAFQRASYPDITGEKAMMLLGQVKYGLHNIQISHLSIASSQVELVEAKSIDVSIQNVSVVFKGTLKYGYTTAWWLGIDQSIDFEIDSAIDLQINTQLTCDSGRVRTDAPDCYLSFHKLLLHLQGEREPGWIKQLFTNFISFTLKLVLKGQICKEINVISNIMADFVQTRAASILSDGDIGVDISLTGDPVITASYLESHHKGHFIYKNVSEDLPLPTFSPTLLGDSRMLYFWFSERVFHSLAKVAFQDGRLMLSLMGDEFKAVLETWGFNTNQEIFQEVVGGFPSQAQVTVHCLKMPKISCQNKGVVVNSSVMVKFLFPRPDQQHSVAYTFEEDIVTTVQASYSKKKLFLSLLDFQITPKTVSNLTESSSESVQSFLQSMITAVGIPEVMSRLEVVFTALMNSKGVSLFDIINPEIITRDGFLLLQMDFGFPEHLLVDFLQSLS | |
| cholesteryl ester transfer protein isoform 2 precursor | |
|---|---|
| Refseq ID | NP_001273014 |
| Protein GI | 554506550 |
| UniProt ID | B4DMZ5 |
| mRNA ID | NM_001286085 |
| Length | 433 |
| MLAATVLTLALLGNAHACSKGTSHEAGIVCRITKPALLVLNHETAKVIQTAFQRASYPDITGEKAMMLLGQVKYGLHNIQISHLSIASSQVELVEAKSIDVSIQNVSVVFKGTLKYGYTTAWWLGIDQSIDFEIDSAIDLQINTQLTCDSGRVRTDAPDCYLSFHKLLLHLQGEREPGWIKQLFTNFISFTLKLVLKGQICKEINVISNIMADFVQTRAASILSDGDIGVDISLTGDPVITASYLESHHKAVLETWGFNTNQEIFQEVVGGFPSQAQVTVHCLKMPKISCQNKGVVVNSSVMVKFLFPRPDQQHSVAYTFEEDIVTTVQASYSKKKLFLSLLDFQITPKTVSNLTESSSESVQSFLQSMITAVGIPEVMSRLEVVFTALMNSKGVSLFDIINPEIITRDGFLLLQMDFGFPEHLLVDFLQSLS | |
| sig_peptide: 1..17 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1680 peptide sequence: MLAATVLTLALLGNAHA mat_peptide: 18..493 product: cholesteryl ester transfer protein isoform 1 calculated_mol_wt: 53094 peptide sequence: CSKGTSHEAGIVCRITKPALLVLNHETAKVIQTAFQRASYPDITGEKAMMLLGQVKYGLHNIQISHLSIASSQVELVEAKSIDVSIQNVSVVFKGTLKYGYTTAWWLGIDQSIDFEIDSAIDLQINTQLTCDSGRVRTDAPDCYLSFHKLLLHLQGEREPGWIKQLFTNFISFTLKLVLKGQICKEINVISNIMADFVQTRAASILSDGDIGVDISLTGDPVITASYLESHHKGHFIYKNVSEDLPLPTFSPTLLGDSRMLYFWFSERVFHSLAKVAFQDGRLMLSLMGDEFKAVLETWGFNTNQEIFQEVVGGFPSQAQVTVHCLKMPKISCQNKGVVVNSSVMVKFLFPRPDQQHSVAYTFEEDIVTTVQASYSKKKLFLSLLDFQITPKTVSNLTESSSESVQSFLQSMITAVGIPEVMSRLEVVFTALMNSKGVSLFDIINPEIITRDGFLLLQMDFGFPEHLLVDFLQSLS sig_peptide: 1..17 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1680 peptide sequence: MLAATVLTLALLGNAHA mat_peptide: 18..433 product: cholesteryl ester transfer protein isoform 2 calculated_mol_wt: 46125 peptide sequence: CSKGTSHEAGIVCRITKPALLVLNHETAKVIQTAFQRASYPDITGEKAMMLLGQVKYGLHNIQISHLSIASSQVELVEAKSIDVSIQNVSVVFKGTLKYGYTTAWWLGIDQSIDFEIDSAIDLQINTQLTCDSGRVRTDAPDCYLSFHKLLLHLQGEREPGWIKQLFTNFISFTLKLVLKGQICKEINVISNIMADFVQTRAASILSDGDIGVDISLTGDPVITASYLESHHKAVLETWGFNTNQEIFQEVVGGFPSQAQVTVHCLKMPKISCQNKGVVVNSSVMVKFLFPRPDQQHSVAYTFEEDIVTTVQASYSKKKLFLSLLDFQITPKTVSNLTESSSESVQSFLQSMITAVGIPEVMSRLEVVFTALMNSKGVSLFDIINPEIITRDGFLLLQMDFGFPEHLLVDFLQSLS | |
Gene Information
Entrez Gene ID
Gene Name
cholesteryl ester transfer protein, plasma
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005576 | TAS:Reactome | C | extracellular region |
| GO:0005615 | IDA:BHF-UCL | C | extracellular space |
| GO:0070062 | IDA:UniProtKB | C | extracellular vesicular exosome |
| GO:0034364 | IDA:BHF-UCL | C | high-density lipoprotein particle |
| GO:0031982 | IDA:BHF-UCL | C | vesicle |
| GO:0015485 | IDA:BHF-UCL | F | cholesterol binding |
| GO:0017127 | IDA:BHF-UCL | F | cholesterol transporter activity |
| GO:0008289 | IDA:BHF-UCL | F | lipid binding |
| GO:0005319 | IDA:BHF-UCL | F | lipid transporter activity |
| GO:0031210 | IDA:BHF-UCL | F | phosphatidylcholine binding |
| GO:0005548 | IDA:BHF-UCL | F | phospholipid transporter activity |
| GO:0017129 | IDA:BHF-UCL | F | triglyceride binding |
| GO:0042632 | IMP:BHF-UCL | P | cholesterol homeostasis |
| GO:0008203 | IDA:BHF-UCL | P | cholesterol metabolic process |
| GO:0030301 | IDA:BHF-UCL | P | cholesterol transport |
| GO:0034375 | IMP:BHF-UCL | P | high-density lipoprotein particle remodeling |
| GO:0055088 | IDA:BHF-UCL | P | lipid homeostasis |
| GO:0006869 | IDA:BHF-UCL | P | lipid transport |
| GO:0042157 | TAS:Reactome | P | lipoprotein metabolic process |
| GO:0034374 | IDA:BHF-UCL | P | low-density lipoprotein particle remodeling |
| GO:0010745 | IC:BHF-UCL | P | negative regulation of macrophage derived foam cell differentiation |
| GO:0046470 | IDA:BHF-UCL | P | phosphatidylcholine metabolic process |
| GO:0055091 | IDA:BHF-UCL | P | phospholipid homeostasis |
| GO:0015914 | IDA:BHF-UCL | P | phospholipid transport |
| GO:0006898 | TAS:Reactome | P | receptor-mediated endocytosis |
| GO:0010874 | IMP:BHF-UCL | P | regulation of cholesterol efflux |
| GO:0043691 | IC:BHF-UCL | P | reverse cholesterol transport |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0070328 | IDA:BHF-UCL | P | triglyceride homeostasis |
| GO:0006641 | IDA:BHF-UCL | P | triglyceride metabolic process |
| GO:0034372 | IDA:BHF-UCL | P | very-low-density lipoprotein particle remodeling |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_13621 | HDL-mediated lipid transport |
| REACT_6934 | LDL-mediated lipid transport |
| REACT_602 | Lipid digestion, mobilization, and transport |
| REACT_6823 | Lipoprotein metabolism |
| REACT_111217 | Metabolism |
| REACT_22258 | Metabolism of lipids and lipoproteins |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR017943 | Bactericidal permeability-increasing protein, alpha/beta domain |
| IPR017130 | Cholesteryl ester transfer |
| IPR001124 | Lipid-binding serum glycoprotein, C-terminal |
| IPR017942 | Lipid-binding serum glycoprotein, N-terminal |
| IPR017954 | Lipid-binding serum glycoprotein, conserved site |
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11597-1; Sequence=Displayed; Name=2; IsoId=P11597-2; Sequence=VSP_023645; |
| Disease | 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. |
| 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). {ECO:0000269|PubMed:24293641, ECO:0000303|PubMed:17237796, ECO:0000305|PubMed:3600759}. |
| Polymorphism | Genetic variations in CETP define the high density lipoprotein cholesterol level quantitative trait locus 10 (HDLCQ10) [MIM:143470]. |
| Similarity | Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family |
| Subcellular Location | Secreted, extracellular space Note=Secreted in plasma |
| Tissue Specificity | Expressed by the liver and secreted in plasma. |
| Web Resource | Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CETP"; |
| Web Resource | Name=Wikipedia; Note=Cholesterylester transfer protein entry; URL="http://en.wikipedia.org/wiki/Cholesterylester_transfer_protein"; |
Identical and Related Proteins
Unique RefSeq proteins for LMP012380 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 169636439 | RefSeq | NP_000069 | 493 | cholesteryl ester transfer protein isoform 1 precursor |
| 554506550 | RefSeq | NP_001273014 | 433 | cholesteryl ester transfer protein isoform 2 precursor |
Identical Sequences to LMP012380 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|
Related Sequences to LMP012380 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|