Display Settings:

Format

Send to:

Choose Destination

LCAT lecithin-cholesterol acyltransferase [ Homo sapiens (human) ]

Gene ID: 3931, updated on 7-Aug-2014
Official Symbol
LCATprovided by HGNC
Official Full Name
lecithin-cholesterol acyltransferaseprovided by HGNC
Primary source
HGNC:6522
See related
Ensembl:ENSG00000213398; HPRD:06098; MIM:606967; Vega:OTTHUMG00000137551
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
See LCAT in Epigenomics, MapViewer
Location:
16q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (67939884..67944112, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67973787..67978656, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene protein serine kinase H1 Neighboring gene chymotrypsin-like Neighboring gene proteasome (prosome, macropain) subunit, beta type, 10 Neighboring gene solute carrier family 12 (potassium/chloride transporter), member 4 Neighboring gene dipeptidase 3 Neighboring gene dipeptidase 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Fish-eye disease
MedGen: C0342895 OMIM: 136120 GeneReviews: Not available
Compare labs
Norum disease
MedGen: C0023195 OMIM: 245900 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
NHGRI GWA Catalog
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
NHGRI GWA Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
NHGRI GWA Catalog
  • Glycerophospholipid metabolism, organism-specific biosystem (from KEGG)
    Glycerophospholipid metabolism, organism-specific biosystem
    Glycerophospholipid metabolism
  • Glycerophospholipid metabolism, conserved biosystem (from KEGG)
    Glycerophospholipid metabolism, conserved biosystem
    Glycerophospholipid metabolism
  • HDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
    HDL-mediated lipid transport, organism-specific biosystemHDL particles play a central role in the reverse transport of cholesterol, the process by which cholesterol in tissues other than the liver is returned to the liver for conversion to bile salts and e...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Statin Pathway, organism-specific biosystem (from WikiPathways)
    Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
apolipoprotein A-I binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylcholine-sterol O-acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine-sterol O-acyltransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cholesterol esterification IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
lipoprotein biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
lipoprotein metabolic process TAS
Traceable Author Statement
more info
 
phosphatidylcholine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of high-density lipoprotein particle assembly IEA
Inferred from Electronic Annotation
more info
 
reverse cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
very-low-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
high-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
phosphatidylcholine-sterol acyltransferase
Names
phosphatidylcholine-sterol acyltransferase
phospholipid-cholesterol acyltransferase
NP_000220.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009778.1 

    Range
    5001..9229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000229.1NP_000220.1  phosphatidylcholine-sterol acyltransferase precursor

    See proteins identical to NP_000220.1

    Status: REVIEWED

    Source sequence(s)
    M12625
    Consensus CDS
    CCDS10854.1
    UniProtKB/Swiss-Prot
    P04180
    Related
    ENSP00000264005, OTTHUMP00000174856, ENST00000264005, OTTHUMT00000268885
    Conserved Domains (3) summary
    PLN02517
    Location:321351
    Blast Score: 105
    PLN02517; phosphatidylcholine-sterol O-acyltransferase
    pfam02450
    Location:81408
    Blast Score: 1166
    LCAT; Lecithin:cholesterol acyltransferase
    cl19140
    Location:48239
    Blast Score: 116
    Hydrolase_4; Putative lysophospholipase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    67939884..67944112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    53847357..53851585
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    69381858..69386086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)