Endometriosis Knowledgebase

Search Result

Gene id

1071

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CETP Gene UCSC Ensembl

Aliases

BPIFF, HDLCQ10

Gene name

cholesteryl ester transfer protein

Alternate names

cholesteryl ester transfer protein, BPI fold containing family F, cholesteryl ester transfer protein plasma, lipid transfer protein I,

Gene location

16q13 (56961922: 56983843) Exons: 17 NC_000016.10

Gene summary(Entrez)

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]

OMIM

118470

SNPs

rs708272

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000678.2   g.56962376G>A
NC_000016.10   g.56962376G>A
NC_000016.9   g.56996288G>A
NG_008952.1   g.5454G>A
NM_000078.2   c.118+279G>A
NM_001286085.1   c.118+279G>A

Protein Summary

Protein general information

P11597

Name: Cholesteryl ester transfer protein (Lipid transfer protein I)

Length: 493 Mass: 54,756

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

Sequence

MLAATVLTLALLGNAHACSKGTSHEAGIVCRITKPALLVLNHETAKVIQTAFQRASYPDITGEKAMMLLGQVKYG
LHNIQISHLSIASSQVELVEAKSIDVSIQNVSVVFKGTLKYGYTTAWWLGIDQSIDFEIDSAIDLQINTQLTCDS
GRVRTDAPDCYLSFHKLLLHLQGEREPGWIKQLFTNFISFTLKLVLKGQICKEINVISNIMADFVQTRAASILSD
GDIGVDISLTGDPVITASYLESHHKGHFIYKNVSEDLPLPTFSPTLLGDSRMLYFWFSERVFHSLAKVAFQDGRL
MLSLMGDEFKAVLETWGFNTNQEIFQEVVGGFPSQAQVTVHCLKMPKISCQNKGVVVNSSVMVKFLFPRPDQQHS
VAYTFEEDIVTTVQASYSKKKLFLSLLDFQITPKTVSNLTESSSESVQSFLQSMITAVGIPEVMSRLEVVFTALM
NSKGVSLFDIINPEIITRDGFLLLQMDFGFPEHLLVDFLQSLS

Structural information

Interpro:	IPR017943 IPR032942 IPR017130 IPR001124 IPR017954 IPR017942
Prosite:	PS00400
Pfam:	PF01273 PF02886
PDB:	2OBD 4EWS 4F2A
PDBsum:	2OBD 4EWS 4F2A
STRING:	ENSP00000200676;

Other Databases

GeneCards: CETP; Malacards: CETP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005319	lipid transporter activit y	IDA	molecular_function
GO:0005548	phospholipid transporter activity	IDA	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0006641	triglyceride metabolic pr ocess	IDA	biological_process
GO:0006869	lipid transport	IDA	biological_process
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0008203	cholesterol metabolic pro cess	IMP	biological_process
GO:0008203	cholesterol metabolic pro cess	IDA	biological_process
GO:0008289	lipid binding	IDA	molecular_function
GO:0010745	negative regulation of ma crophage derived foam cel l differentiation	IC	biological_process
GO:0010874	regulation of cholesterol efflux	IMP	biological_process
GO:0015485	cholesterol binding	IDA	molecular_function
GO:0015914	phospholipid transport	IDA	biological_process
GO:0017127	cholesterol transporter a ctivity	IDA	molecular_function
GO:0017127	cholesterol transporter a ctivity	IDA	molecular_function
GO:0017127	cholesterol transporter a ctivity	IDA	molecular_function
GO:0017129	triglyceride binding	IDA	molecular_function
GO:0030301	cholesterol transport	IDA	biological_process
GO:0030301	cholesterol transport	IDA	biological_process
GO:0031210	phosphatidylcholine bindi ng	IDA	molecular_function
GO:0031982	vesicle	IDA	cellular_component
GO:0034197	triglyceride transport	IDA	biological_process
GO:0034364	high-density lipoprotein particle	IDA	cellular_component
GO:0034372	very-low-density lipoprot ein particle remodeling	IDA	biological_process
GO:0034372	very-low-density lipoprot ein particle remodeling	IDA	biological_process
GO:0034374	low-density lipoprotein p article remodeling	IDA	biological_process
GO:0034375	high-density lipoprotein particle remodeling	IDA	biological_process
GO:0034375	high-density lipoprotein particle remodeling	IMP	biological_process
GO:0042157	lipoprotein metabolic pro cess	TAS	biological_process
GO:0042632	cholesterol homeostasis	IMP	biological_process
GO:0043691	reverse cholesterol trans port	IC	biological_process
GO:0046470	phosphatidylcholine metab olic process	IDA	biological_process
GO:0055088	lipid homeostasis	IDA	biological_process
GO:0055091	phospholipid homeostasis	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070328	triglyceride homeostasis	IDA	biological_process
GO:0005319	lipid transporter activit y	IDA	molecular_function
GO:0005548	phospholipid transporter activity	IDA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006641	triglyceride metabolic pr ocess	IDA	biological_process
GO:0006810	transport	IEA	biological_process
GO:0006869	lipid transport	IEA	biological_process
GO:0006869	lipid transport	IDA	biological_process
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0008202	steroid metabolic process	IEA	biological_process
GO:0008203	cholesterol metabolic pro cess	IEA	biological_process
GO:0008203	cholesterol metabolic pro cess	IMP	biological_process
GO:0008203	cholesterol metabolic pro cess	IDA	biological_process
GO:0008289	lipid binding	IEA	molecular_function
GO:0008289	lipid binding	IDA	molecular_function
GO:0010745	negative regulation of ma crophage derived foam cel l differentiation	IC	biological_process
GO:0010874	regulation of cholesterol efflux	IMP	biological_process
GO:0015485	cholesterol binding	IDA	molecular_function
GO:0015914	phospholipid transport	IDA	biological_process
GO:0017127	cholesterol transporter a ctivity	IEA	molecular_function
GO:0017127	cholesterol transporter a ctivity	IDA	molecular_function
GO:0017127	cholesterol transporter a ctivity	IDA	molecular_function
GO:0017127	cholesterol transporter a ctivity	IDA	molecular_function
GO:0017129	triglyceride binding	IDA	molecular_function
GO:0030301	cholesterol transport	IDA	biological_process
GO:0030301	cholesterol transport	IDA	biological_process
GO:0031210	phosphatidylcholine bindi ng	IDA	molecular_function
GO:0031982	vesicle	IDA	cellular_component
GO:0034197	triglyceride transport	IDA	biological_process
GO:0034364	high-density lipoprotein particle	IEA	cellular_component
GO:0034364	high-density lipoprotein particle	IDA	cellular_component
GO:0034372	very-low-density lipoprot ein particle remodeling	IDA	biological_process
GO:0034372	very-low-density lipoprot ein particle remodeling	IDA	biological_process
GO:0034374	low-density lipoprotein p article remodeling	IDA	biological_process
GO:0034375	high-density lipoprotein particle remodeling	IDA	biological_process
GO:0034375	high-density lipoprotein particle remodeling	IMP	biological_process
GO:0042157	lipoprotein metabolic pro cess	TAS	biological_process
GO:0042632	cholesterol homeostasis	IMP	biological_process
GO:0043691	reverse cholesterol trans port	IEA	biological_process
GO:0043691	reverse cholesterol trans port	IC	biological_process
GO:0046470	phosphatidylcholine metab olic process	IDA	biological_process
GO:0055088	lipid homeostasis	IDA	biological_process
GO:0055091	phospholipid homeostasis	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070328	triglyceride homeostasis	IDA	biological_process
GO:0005319	lipid transporter activit y	IDA	molecular_function
GO:0005548	phospholipid transporter activity	IDA	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0006641	triglyceride metabolic pr ocess	IDA	biological_process
GO:0006869	lipid transport	IDA	biological_process
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0008203	cholesterol metabolic pro cess	IMP	biological_process
GO:0008203	cholesterol metabolic pro cess	IDA	biological_process
GO:0008289	lipid binding	IDA	molecular_function
GO:0010745	negative regulation of ma crophage derived foam cel l differentiation	IC	biological_process
GO:0010874	regulation of cholesterol efflux	IMP	biological_process
GO:0015485	cholesterol binding	IDA	molecular_function
GO:0015914	phospholipid transport	IDA	biological_process
GO:0017127	cholesterol transporter a ctivity	IDA	molecular_function
GO:0017127	cholesterol transporter a ctivity	IDA	molecular_function
GO:0017127	cholesterol transporter a ctivity	IDA	molecular_function
GO:0017129	triglyceride binding	IDA	molecular_function
GO:0030301	cholesterol transport	IDA	biological_process
GO:0030301	cholesterol transport	IDA	biological_process
GO:0031210	phosphatidylcholine bindi ng	IDA	molecular_function
GO:0031982	vesicle	IDA	cellular_component
GO:0034197	triglyceride transport	IDA	biological_process
GO:0034364	high-density lipoprotein particle	IDA	cellular_component
GO:0034372	very-low-density lipoprot ein particle remodeling	IDA	biological_process
GO:0034372	very-low-density lipoprot ein particle remodeling	IDA	biological_process
GO:0034374	low-density lipoprotein p article remodeling	IDA	biological_process
GO:0034375	high-density lipoprotein particle remodeling	IDA	biological_process
GO:0034375	high-density lipoprotein particle remodeling	IMP	biological_process
GO:0042157	lipoprotein metabolic pro cess	TAS	biological_process
GO:0042632	cholesterol homeostasis	IMP	biological_process
GO:0043691	reverse cholesterol trans port	IC	biological_process
GO:0046470	phosphatidylcholine metab olic process	IDA	biological_process
GO:0055088	lipid homeostasis	IDA	biological_process
GO:0055091	phospholipid homeostasis	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070328	triglyceride homeostasis	IDA	biological_process

KEGG pathways

PTHR10504:SF12 CCKR signaling map

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 15036597
Amyotrophic lateral sclerosis (ALS)	PMID: 18513389
Asthma	PMID: 11956670
Cancer	PMID: 19692168
Cholelithiasis	PMID: 12205929
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Diabetes	PMID: 18823627
Dyslipidemia	PMID: 19341173
Endometriosis	PMID: 23772784
Glomerulonephritis	PMID: 19420105
Hyperalphalipoproteinemia	OMIM: 118470
Hypercholesterolemia	PMID: 16030523
Hyperlipidemia	PMID: 15098490
Hyperlipoproteinemias	PMID: 19428034
Hypertriglyceridemia	PMID: 19086575
Kidney disease	PMID: 19578796
Macroangiopathy	PMID: 11369008
Metabolic syndrome	PMID: 18849221
Nephropathy	PMID: 11096142
Obesity	PMID: 18454345
Preeclampsia	PMID: 14687732
Restenosis	PMID: 12082592
Endometriosis	INFBASE23772784

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
23772784	Endometrio sis	I405V		204 (97 women w ith laparoscopy -diagnosed endo metriosis, 107 patients with n o evidence of e ndometriosis)			Show abstract