CETP_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
CETP
Protein names and data:
CETP_HUMAN
, Cholesteryl ester transfer protein
, Lipid transfer protein I; Flags: Precursor
Lenght: 493 a.a.
Mass: 54756 Da
fasta formatted sequence
Function:
Involved in the transfer of insoluble cholesteryl esters in the reverse transport of cholesterol.
Disease:
( OMIM:
118470
143470
)
Hyperalphalipoproteinemia 1 (HALP1) [MIM:143470]: A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Secreted, extracellular space.
Tissue specificity:
Expressed by the liver and secreted in plasma.
Genetic variants
Genetic variations in CETP define the high density lipoprotein cholesterol level quantitative trait locus 10 (HDLCQ10) [MIM:143470].
15 - 15
A -> G (in dbSNP:rs34065661). VAR_017018
34065661
154 - 154
R -> W (in dbSNP:rs34716057). VAR_033098
34716057
168 - 168
L -> P (in HALP1; reduced secretion into plasma). VAR_033099
299 - 299
R -> C (in HALP1; reduced secretion into plasma). VAR_033100
331 - 331
G -> S (in dbSNP:rs5881). VAR_013919
5881
385 - 385
V -> M (in dbSNP:rs34855278). VAR_017019
34855278
390 - 390
A -> P (in dbSNP:rs5880). VAR_013920
5880
422 - 422
V -> I (in dbSNP:rs5882). VAR_013921
5882
455 - 455
V -> M (in dbSNP:rs2228667). VAR_031127
2228667
459 - 459
D -> G (in HALP1; dbSNP:rs2303790). VAR_004172
2303790
468 - 468
R -> Q (in dbSNP:rs1800777). VAR_013922
1800777
486 - 486
V -> M (in dbSNP:rs5887). VAR_013923
5887
Database cross-references
UniProt:
P11597
Ensembl:
ENST00000200676
Ensembl:
ENST00000379780
MIM:
118470
MIM:
143470
neXtProt:
NX_P11597
Antibodypedia:
P11597
(may not find the protein thus also not any antibody)
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