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

Gene ID: 3931, updated on 7-Oct-2019

Summary

Official Symbol
LCATprovided by HGNC
Official Full Name
lecithin-cholesterol acyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:6522
See related
Ensembl:ENSG00000213398 MIM:606967
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]
Expression
Broad expression in liver (RPKM 51.1), skin (RPKM 11.1) and 19 other tissues See more
Orthologs

Genomic context

See LCAT in Genome Data Viewer
Location:
16q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (67939750..67944120, 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 20S subunit beta 10 Neighboring gene solute carrier family 12 member 4 Neighboring gene dipeptidase 3 Neighboring gene dipeptidase 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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 insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
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

Pathways from BioSystems

  • Composition of Lipid Particles, organism-specific biosystem (from WikiPathways)
    Composition of Lipid Particles, organism-specific biosystemThis particle describes the chemical composition of various lipid particles. See also WP430 and other pathways. Additional sources - A. Goldberg, Overview of Lipid Metabolism, 2015. http://www.msdma...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
phosphatidylcholine-sterol O-acyltransferase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
phosphatidylcholine-sterol acyltransferase
Names
phosphatidylcholine--sterol O-acyltransferase
phospholipid-cholesterol acyltransferase
testicular secretory protein Li 24
NP_000220.1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    Range
    4993..9363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000229.2NP_000220.1  phosphatidylcholine-sterol acyltransferase precursor

    See identical proteins and their annotated locations for NP_000220.1

    Status: REVIEWED

    Source sequence(s)
    AC040162
    Consensus CDS
    CCDS10854.1
    UniProtKB/Swiss-Prot
    P04180
    UniProtKB/TrEMBL
    A0A140VK24
    Related
    ENSP00000264005.5, ENST00000264005.10
    Conserved Domains (1) summary
    pfam02450
    Location:83408
    LCAT; Lecithin:cholesterol acyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    67939750..67944120 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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