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

    Gene ID: 3931, updated on 20-Apr-2017
    Official Symbol
    LCATprovided by HGNC
    Official Full Name
    lecithin-cholesterol acyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:6522
    See related
    Ensembl:ENSG00000213398 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]
    Orthologs
    Location:
    16q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 subunit beta 10 Neighboring gene solute carrier family 12 member 4 Neighboring gene dipeptidase 3 Neighboring gene dipeptidase 2

    • 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 Jun 15 11:32:44 2016

    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 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
    • 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...
    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 
    phosphatidylcholine-sterol O-acyltransferase activity TAS
    Traceable Author Statement
    more info
     
    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 
    phosphatidylcholine metabolic 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 
    very-low-density lipoprotein particle remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    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 
    Preferred Names
    phosphatidylcholine-sterol acyltransferase
    Names
    phosphatidylcholine--sterol O-acyltransferase
    phospholipid-cholesterol acyltransferase
    testicular secretory protein Li 24
    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 RefSeqGene

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

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_000220.1

      Status: REVIEWED

      Source sequence(s)
      M12625
      Consensus CDS
      CCDS10854.1
      UniProtKB/Swiss-Prot
      P04180
      UniProtKB/TrEMBL
      A0A140VK24
      Related
      ENSP00000264005.5, OTTHUMP00000174856, ENST00000264005.9, OTTHUMT00000268885
      Conserved Domains (1) summary
      pfam02450
      Location:83408
      LCAT; Lecithin:cholesterol acyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

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