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

Gene Name
cholesteryl ester transfer protein, plasma
UniProt ID
Species
Human

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