InnateDB Protein
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IDBP-37739.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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LCAT
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Protein Name
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lecithin-cholesterol acyltransferase
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000264005
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InnateDB Gene
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IDBG-242762 (LCAT)
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Protein Structure
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Function |
Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines. Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteins secreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and the cholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required for remodeling high-density lipoprotein particles into their spherical forms. {ECO:0000269PubMed:10722751}.
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Subcellular Localization |
Secreted {ECO:0000269PubMed:19065001}. Note=Secreted into blood plasma. Produced in astrocytes and secreted into cerebral spinal fluid (CSF).
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Disease Associations |
Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]: A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish- eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. {ECO:0000269PubMed:11423760, ECO:0000269PubMed:12957688, ECO:0000269PubMed:15994445, ECO:0000269PubMed:16051254, ECO:0000269PubMed:16216249, ECO:0000269PubMed:1681161, ECO:0000269PubMed:1859405, ECO:0000269PubMed:2370048, ECO:0000269PubMed:7607641, ECO:0000269PubMed:7711728, ECO:0000269PubMed:8318557, ECO:0000269PubMed:8432868, ECO:0000269PubMed:8807342, ECO:0000269PubMed:9007616, ECO:0000269PubMed:9741700}. Note=The disease is caused by mutations affecting the gene represented in this entry.Fish-eye disease (FED) [MIM:136120]: A disorder of lipoprotein metabolism due to partial lecithin-cholesterol acyltransferase deficiency that affects only alpha-LCAT activity. FED is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish- eye'). {ECO:0000269PubMed:1516702, ECO:0000269PubMed:1571050, ECO:0000269PubMed:15994445, ECO:0000269PubMed:1737840, ECO:0000269PubMed:21901787, ECO:0000269PubMed:8620346, ECO:0000269PubMed:9261271}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep- G2 cell line. {ECO:0000269PubMed:10222237, ECO:0000269PubMed:3797244}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
7
[view]
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Protein-Protein |
7
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003386
Lecithin:cholesterol/phospholipid:diacylglycerol acyltransferase
IPR029058
Alpha/Beta hydrolase fold
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PFAM |
PF02450
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P04180
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PhosphoSite |
PhosphoSite-P04180
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TrEMBL |
J3QSE5
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UniProt Splice Variant |
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Entrez Gene |
3931
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UniGene |
Hs.593769
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RefSeq |
NP_000220
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HUGO |
HGNC:6522
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OMIM |
606967
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CCDS |
CCDS10854
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HPRD |
06098
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IMGT |
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EMBL |
AC040162
AY422210
BC014781
BT009748
CH471092
M12625
M17959
M26268
X04981
X06537
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GenPept |
AAA59498
AAA59499
AAA59500
AAH14781
AAP88750
AAR03499
CAA28651
CAB56610
EAW83190
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