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Aliases for LRAT Gene

Aliases for LRAT Gene

  • Lecithin Retinol Acyltransferase (Phosphatidylcholine--Retinol O-Acyltransferase) 2 3
  • EC 2.3.1.135 4 63
  • LCA14 3 6
  • Phosphatidylcholine--Retinol O-Acyltransferase 4
  • Lecithin Retinol Acyltransferase 3

External Ids for LRAT Gene

Previous GeneCards Identifiers for LRAT Gene

  • GC04P156514
  • GC04P156050
  • GC04P156239
  • GC04P156019
  • GC04P155881
  • GC04P155665
  • GC04P155549
  • GC04P151405

Summaries for LRAT Gene

Entrez Gene Summary for LRAT Gene

  • The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

GeneCards Summary for LRAT Gene

LRAT (Lecithin Retinol Acyltransferase (Phosphatidylcholine--Retinol O-Acyltransferase)) is a Protein Coding gene. Diseases associated with LRAT include leber congenital amaurosis 14 and lrat-related leber congenital amaurosis. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include transferase activity, transferring acyl groups and retinol binding.

UniProtKB/Swiss-Prot for LRAT Gene

  • Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments.

Gene Wiki entry for LRAT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRAT Gene

Genomics for LRAT Gene

Regulatory Elements for LRAT Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LRAT Gene

Start:
154,626,945 bp from pter
End:
154,753,118 bp from pter
Size:
126,174 bases
Orientation:
Plus strand

Genomic View for LRAT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LRAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRAT Gene

Proteins for LRAT Gene

  • Protein details for LRAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95237-LRAT_HUMAN
    Recommended name:
    Lecithin retinol acyltransferase
    Protein Accession:
    O95237
    Secondary Accessions:
    • A8K983
    • Q8N716

    Protein attributes for LRAT Gene

    Size:
    230 amino acids
    Molecular mass:
    25703 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LRAT Gene

Proteomics data for LRAT Gene at MOPED

Selected DME Specific Peptides for LRAT Gene

Post-translational modifications for LRAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LRAT Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for LRAT Gene

Protein Domains for LRAT Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for LRAT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95237

UniProtKB/Swiss-Prot:

LRAT_HUMAN :
  • O95237
Family:
  • Belongs to the H-rev107 family.
genes like me logo Genes that share domains with LRAT: view

No data available for Gene Families for LRAT Gene

Function for LRAT Gene

Molecular function for LRAT Gene

UniProtKB/Swiss-Prot CatalyticActivity: Phosphatidylcholine + retinol--[cellular-retinol-binding-protein] = 2-acylglycerophosphocholine + retinyl-ester--[cellular-retinol-binding-protein]
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by all-trans-retinyl alpha-bromoacetate and N-boc-L-biocytinyl-11-aminoundecane chloro-methyl ketone (BACMK).
UniProtKB/Swiss-Prot Function: Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments.
UniProtKB/Swiss-Prot Induction: LRAT activity is up-regulated by dietary vitamin A. Under conditions of vitamin A depletion, LRAT expression in the liver is induced by retinoic acid (By similarity).

Enzyme Numbers (IUBMB) for LRAT Gene

Gene Ontology (GO) - Molecular Function for LRAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001972 retinoic acid binding IEA --
GO:0008374 O-acyltransferase activity --
GO:0016746 transferase activity, transferring acyl groups TAS 9920938
GO:0019841 retinol binding IEA --
GO:0047173 phosphatidylcholine-retinol O-acyltransferase activity IEA --
genes like me logo Genes that share ontologies with LRAT: view
genes like me logo Genes that share phenotypes with LRAT: view

Animal Models for LRAT Gene

MGI Knock Outs for LRAT:

Animal Model Products

CRISPR Products

miRNA for LRAT Gene

miRTarBase miRNAs that target LRAT

No data available for Transcription Factor Targeting and HOMER Transcription for LRAT Gene

Localization for LRAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRAT Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Rough endoplasmic reticulum. Endosome, multivesicular body. Cytoplasm, perinuclear region. Note=Present in the rough endoplasmic reticulum and multivesicular body in hepatic stellate cells. Present in the rough endoplasmic reticulum and perinuclear region in endothelial cells (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRAT Gene COMPARTMENTS Subcellular localization image for LRAT gene
Compartment Confidence
endoplasmic reticulum 5
endosome 4
extracellular 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for LRAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005771 multivesicular body ISS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005791 rough endoplasmic reticulum ISS --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle --
genes like me logo Genes that share ontologies with LRAT: view

Pathways for LRAT Gene

genes like me logo Genes that share pathways with LRAT: view

UniProtKB/Swiss-Prot O95237-LRAT_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism

Gene Ontology (GO) - Biological Process for LRAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006776 vitamin A metabolic process IEA --
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light TAS --
GO:0032370 positive regulation of lipid transport IEA --
genes like me logo Genes that share ontologies with LRAT: view

Compounds for LRAT Gene

(1146) HMDB Compounds for LRAT Gene

Compound Synonyms Cas Number PubMed IDs
11-cis-Retinol
  • cis-11-Retinol
22737-96-8
1-Butanol
  • 1-Butanol
71-36-3
1-Hexanol
  • 1-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
71-41-0
Ethanol
  • 1-Hydroxyethane
64-17-5

(1) Drugbank Compounds for LRAT Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Vitamin A
  • [11,12-3H]-Retinol
68-26-8 target

(16) Novoseek inferred chemical compound relationships for LRAT Gene

Compound -log(P) Hits PubMed IDs
retinyl ester 93 12
11-cis-retinol 92.5 5
vitamin a 87.6 85
retinoid 83.9 10
lecithin 66.8 6
genes like me logo Genes that share compounds with LRAT: view

Transcripts for LRAT Gene

Unigene Clusters for LRAT Gene

Lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LRAT

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for LRAT

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRAT Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c
SP1: - - - - -
SP2: -
SP3:
SP4:

Relevant External Links for LRAT Gene

GeneLoc Exon Structure for
LRAT
ECgene alternative splicing isoforms for
LRAT

Expression for LRAT Gene

mRNA expression in normal human tissues for LRAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LRAT Gene

This gene is overexpressed in Brain - Hypothalamus (5.7) and Brain - Spinal cord (cervical c-1) (5.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for LRAT Gene

SOURCE GeneReport for Unigene cluster for LRAT Gene Hs.658427

mRNA Expression by UniProt/SwissProt for LRAT Gene

O95237-LRAT_HUMAN
Tissue specificity: Hepatic stellate cells and endothelial cells (at protein level). Found at high levels in testis and liver, followed by retinal pigment epithelium, small intestine, prostate, pancreas and colon. Low expression observed in brain. In fetal tissues, expressed in retinal pigment epithelium and liver, and barely in the brain.
genes like me logo Genes that share expressions with LRAT: view

In Situ Assay Products

Orthologs for LRAT Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRAT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRAT 35
  • 99.57 (n)
  • 99.57 (a)
LRAT 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRAT 35
  • 88.7 (n)
  • 87.83 (a)
LRAT 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRAT 35
  • 88.84 (n)
  • 87.39 (a)
LRAT 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrat 35
  • 81.14 (n)
  • 80.26 (a)
Lrat 16
Lrat 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRAT 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRAT 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrat 35
  • 80.56 (n)
  • 78.95 (a)
chicken
(Gallus gallus)
Aves LRAT 35
  • 71.3 (n)
  • 65.65 (a)
LRAT 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRAT 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrat 35
  • 66.67 (n)
  • 69.02 (a)
MGC75880 35
zebrafish
(Danio rerio)
Actinopterygii LRAT 36
  • 47 (a)
OneToOne
lratb 35
  • 60.32 (n)
  • 59.73 (a)
Species with no ortholog for LRAT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LRAT Gene

ENSEMBL:
Gene Tree for LRAT (if available)
TreeFam:
Gene Tree for LRAT (if available)

Paralogs for LRAT Gene

No data available for Paralogs for LRAT Gene

Variants for LRAT Gene

Sequence variations from dbSNP and Humsavar for LRAT Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs23272 -- 154,687,837(+) GCCCA(G/T)GCTGA intron-variant
rs172097 -- 154,745,182(-) aatta(C/G)ccggg intron-variant
rs172098 -- 154,745,063(-) ccagc(C/T)tgagc intron-variant
rs188032 -- 154,693,527(-) ttggg(A/G)gaggc intron-variant
rs191848 -- 154,745,274(-) ggatg(C/T)tgagg intron-variant

Relevant External Links for LRAT Gene

HapMap Linkage Disequilibrium report
LRAT
Human Gene Mutation Database (HGMD)
LRAT
Locus Specific Mutation Databases (LSDB)
LRAT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for LRAT Gene

Disorders for LRAT Gene

(1) OMIM Diseases for LRAT Gene (604863)

UniProtKB/Swiss-Prot

LRAT_HUMAN
  • Leber congenital amaurosis 14 (LCA14) [MIM:613341]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:11381255, ECO:0000269 PubMed:17011878, ECO:0000269 PubMed:18055821}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for LRAT Gene

(11) Novoseek inferred disease relationships for LRAT Gene

Disease -log(P) Hits PubMed IDs
lebers congenital amaurosis 91.7 4
retinitis pigmentosa 65 4
retinal degeneration 54.1 1
night blindness 52 1
vitamin a deficiency 36.9 1

Relevant External Links for LRAT

GeneTests
LRAT
GeneReviews
LRAT
Genetic Association Database (GAD)
LRAT
Human Genome Epidemiology (HuGE) Navigator
LRAT
genes like me logo Genes that share disorders with LRAT: view

Publications for LRAT Gene

  1. Molecular and biochemical characterization of lecithin retinol acyltransferase. (PMID: 9920938) Ruiz A. … Bok D. (J. Biol. Chem. 1999) 2 3 4 23
  2. Lecithin retinol acyltransferase contains cysteine residues essential for catalysis. (PMID: 10819989) Mondal M.S. … Rando R.R. (Biochemistry 2000) 3 4 23
  3. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. (PMID: 11381255) Thompson D.A. … Gal A. (Nat. Genet. 2001) 3 4 23
  4. Cloning, gene organization and identification of an alternative splicing process in lecithin:retinol acyltransferase cDNA from human liver. (PMID: 15474300) Zolfaghari R. … Ross A.C. (Gene 2004) 3 4 23
  5. Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis. (PMID: 17011878) Senechal A. … Hamel C.P. (Am. J. Ophthalmol. 2006) 3 4 23

Products for LRAT Gene

Sources for LRAT Gene

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