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FLASH GENE
Symbol LRAT contributors: mct - updated : 02-01-2012
HGNC name lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
HGNC id 6685
DNA
TYPE functioning gene
STRUCTURE 9.11 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (CAAT box) (TATA box)
Binding site
text structure a TATA box, CCAAT box and Sp1 site, which are apparently conserved in mouse and rat
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 splicing polyA site 4909 - 230 - 2009 19665987
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver     Homo sapiens
Nervousbrain   lowly
Reproductivemale systemtestis  highly
 male systemprostate  lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
Epithelialbarrier/liningretinal pigment epithelium (RPE)  
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text RPE, liver, slightly in brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two putative transmembrane domains
  • HOMOLOGY
    Homologene
    FAMILY
  • H-rev107 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • catalyzing a series of reactions taking place in RPE, by which the chromophore of the visual pigments, 11-cis retinal derived from vitamin A is transformed in all-transretinyl esters
  • catalyzing the synthesis of retinyl esters in many tissues and role crucial for the transport and intracellular storage of vitamin A
  • catalyzes the esterification of all-trans retinol (vitamin A) to all-trans retinyl esters, which are the substrate for RPE65, to produce 11-cis-retinol
  • RPE65 and LRAT play key roles in recycling 11-cis-retinal in the retinal pigment epithelium (RPE)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism vitamin
    signaling sensory transduction/vision
    vitamin A
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with RPE65
  • cell & other
    REGULATION
    Other transcriptional regulation by all-trans-retinoic acid (RA) and other retinoids
    ASSOCIATED DISORDERS
    corresponding disease(s) RDSE
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in Lrat&
  • 8722;/&
    8722; mouse, rod opsin traffics normally to ROS, whereas cone opsins accumulated in inner regions of cones
  • in the Lrat-/- model, large quantities of M and S opsins are mislocalized to the inner regions of cones, creating an extra burden on the cell