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

    Gene ID: 3931, updated on 8-Jul-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
    Compare labs

    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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