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

Gene ID: 3931, updated on 11-Jun-2021

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
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Genomic context

See LCAT in Genome Data Viewer
Location:
16q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (67939750..67944120, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67973653..67978023, 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
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Common variants at 30 loci contribute to polygenic dyslipidemia.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Fish-eye disease
MedGen: C0342895 OMIM: 136120 GeneReviews: Not available
Compare labs
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
GeneReviews: Not available
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
GeneReviews: Not available
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
GeneReviews: Not available
Norum disease
MedGen: CN296455 OMIM: 245900 GeneReviews: Not available
not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cholesterol esterification IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cholesterol homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within cholesterol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cholesterol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in high-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in high-density lipoprotein particle remodeling TAS
Traceable Author Statement
more info
 
involved_in lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in lipoprotein biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidylcholine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in phosphatidylcholine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phosphatidylcholine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in phospholipid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of high-density lipoprotein particle assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in reverse cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in very-low-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
part_of high-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
phosphatidylcholine-sterol acyltransferase
Names
1-alkyl-2-acetylglycerophosphocholine esterase
PAF acetylhydrolase
phosphatidylcholine--sterol O-acyltransferase
phospholipid-cholesterol acyltransferase
platelet-activating factor acetylhydrolase
testicular secretory protein Li 24
NP_000220.1

NCBI Reference Sequences (RefSeq)

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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 Updated Annotation Release 109.20210514

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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