LCAT Gene

Name	lecithin-cholesterol acyltransferase
Description	This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Lecithin–cholesterol acyltransferase (LCAT) plays a central role in high‐density lipoprotein (HDL) metabolism by catalyzing the esterification of free cholesterol on nascent, lipid‐poor (preβ) HDL particles. This reaction promotes the maturation of discoidal HDL into spherical particles and facilitates efficient reverse cholesterol transport. Genetic studies have identified common variants in LCAT that associate with HDL cholesterol levels, and rare LCAT mutations contribute to marked HDL deficiency and are linked to increased cardiovascular risk in subjects with especially low HDL levels <5% (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " In vitro and in vivo studies demonstrate that LCAT preferentially esterifies cholesterol on preβ‐HDL, with its action being a critical driver of HDL remodeling and subsequent cholesteryl ester transfer to apoB‐containing lipoproteins, a process that may modulate plasma apoB concentrations and impact atherosclerosis progression (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": " Furthermore, altered LCAT activity—whether due to genetic defects or acquired conditions such as rheumatoid arthritis or hyperhomocysteinemia—leads to abnormalities in HDL structure and impaired cholesterol esterification (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Notably, recent reviews highlight that although animal studies suggest a potentially protective role of LCAT against atherosclerosis, human data have revealed complex and sometimes inconsistent associations between LCAT activity, HDL remodeling, and cardiovascular disease risk (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Collectively, these findings underscore the indispensable role of LCAT in HDL particle maturation, cholesterol esterification, and maintenance of lipid homeostasis, with both genetic and acquired perturbations in its activity contributing to alterations in lipoprotein profiles and cardiovascular risk (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "6"}, {"type": "fg_f", "ref": "5"}, {"type": "fg_f", "ref": "9"}, {"type": "fg_f", "ref": "8"}, {"type": "fg_f", "ref": "7"}, {"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sekar Kathiresan, Cristen J Willer, Gina M Peloso, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common variants at 30 loci contribute to polygenic dyslipidemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.291"}], "href": "https://doi.org/10.1038/ng.291"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19060906"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19060906"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jonathan C Cohen, Robert S Kiss, Alexander Pertsemlidis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Multiple rare alleles contribute to low plasma levels of HDL cholesterol."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1099870"}], "href": "https://doi.org/10.1126/science.1099870"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15297675"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15297675"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ian Tietjen, G Kees Hovingh, Roshni Singaraja, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbalip.2011.08.006"}], "href": "https://doi.org/10.1016/j.bbalip.2011.08.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21875686"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21875686"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yasushi Nakamura, Leila Kotite, Yonghong Gan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular mechanism of reverse cholesterol transport: reaction of pre-beta-migrating high-density lipoprotein with plasma lecithin/cholesterol acyltransferase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/bi0485629"}], "href": "https://doi.org/10.1021/bi0485629"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15544352"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15544352"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Emily L Willner, Bryan Tow, Kimberly K Buhman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deficiency of acyl CoA:cholesterol acyltransferase 2 prevents atherosclerosis in apolipoprotein E-deficient mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0336398100"}], "href": "https://doi.org/10.1073/pnas.0336398100"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12538880"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12538880"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Arundhati Undurti, Ying Huang, Joseph A Lupica, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Modification of high density lipoprotein by myeloperoxidase generates a pro-inflammatory particle."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M109.047605"}], "href": "https://doi.org/10.1074/jbc.M109.047605"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19726691"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19726691"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Noriyasu Tanimoto, Yoshitaka Kumon, Tadashi Suehiro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Serum paraoxonase activity decreases in rheumatoid arthritis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Life Sci (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0024-3205(03)00195-4"}], "href": "https://doi.org/10.1016/s0024-3205(03"}, {"type": "t", "text": "00195-4) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12697270"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12697270"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Kazuhiko Namekata, Yasushi Enokido, Isao Ishii, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Abnormal lipid metabolism in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M406820200"}], "href": "https://doi.org/10.1074/jbc.M406820200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15466479"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15466479"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Xavier Rousset, Boris Vaisman, Marcelo Amar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lecithin: cholesterol acyltransferase--from biochemistry to role in cardiovascular disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Opin Endocrinol Diabetes Obes (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/med.0b013e328329233b"}], "href": "https://doi.org/10.1097/med.0b013e328329233b"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19306528"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19306528"}]}]}]}
Proteins	LCAT_HUMAN
NCBI Gene ID	3931
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

LCAT has 7,187 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 122 datasets.

Click the + buttons to view associations for LCAT from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

LCAT Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of LCAT gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of LCAT gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of LCAT gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of LCAT gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of LCAT gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of LCAT gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of LCAT gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of LCAT gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of LCAT gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of LCAT gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of LCAT gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of LCAT gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with LCAT gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of LCAT gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of LCAT gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of LCAT gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with LCAT gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with LCAT gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of LCAT gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing LCAT protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing LCAT protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing LCAT protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with LCAT protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with LCAT protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of LCAT gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with LCAT gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with LCAT gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with LCAT gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by LCAT gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving LCAT gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving LCAT gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with LCAT gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with LCAT gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with LCAT gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with LCAT gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with LCAT gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at LCAT gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of LCAT gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of LCAT gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing LCAT from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.