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Aliases for LRAT Gene

Aliases for LRAT Gene

  • Lecithin Retinol Acyltransferase (Phosphatidylcholine--Retinol O-Acyltransferase) 2 3 5
  • EC 2.3.1.135 4 63
  • Phosphatidylcholine--Retinol O-Acyltransferase 4
  • LCA14 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 leber congenital amaurosis. Among its related pathways are Signaling by GPCR and Metabolism. 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

Genomic Location for LRAT Gene

Chromosome:
4
Start:
154,626,945 bp from pter
End:
154,753,119 bp from pter
Size:
126,175 bases
Orientation:
Plus strand

Genomic View for LRAT Gene

Genes around LRAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Antibody Products

Domains & Families 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 :
  • Belongs to the H-rev107 family.
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 --
genes like me logo Genes that share ontologies with LRAT: view
genes like me logo Genes that share phenotypes with LRAT: view

Human Phenotype Ontology for LRAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LRAT Gene

MGI Knock Outs for LRAT:

Animal Model Products

No data available for Transcription Factor Targets 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 4
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 IEA,ISS --
genes like me logo Genes that share ontologies with LRAT: view

Pathways & Interactions 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:0007601 visual perception IEA --
GO:0032370 positive regulation of lipid transport IEA --
GO:0042572 retinol metabolic process IEA --
GO:0042573 retinoic acid metabolic process IEA --
genes like me logo Genes that share ontologies with LRAT: view

No data available for SIGNOR curated interactions for LRAT Gene

Drugs & Compounds for LRAT Gene

(9) Drugs for LRAT Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved Nutra Target 413
1-Butanol Experimental Pharma 0
1-Proponol Experimental Pharma 0

(18) Additional Compounds for LRAT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11-cis-Retinol
  • 11-cis-Vitamin A alcohol
  • cis-11-Retinol
22737-96-8
Retinyl ester
  • All-trans-Retinyl ester
retinyl palmitate
  • All-trans-Retinol palmitate
  • All-trans-Retinyl palmitate
  • All-trans-Vitamin A palmitate
  • Aquapalm
  • Aquasol A
79-81-2
11-cis-Retinyl palmitate
1-Hexanol
  • 1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Alcohol C-6
  • Alcohol(C6)
111-27-3
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:

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 differential expression in normal tissues according to GTEx for LRAT Gene

This gene is overexpressed in Brain - Hypothalamus (x5.7) and Brain - Spinal cord (cervical c-1) (x5.2).

Protein differential expression in normal tissues from HIPED for LRAT Gene

This gene is overexpressed in Monocytes (41.9) and Fetal testis (27.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with LRAT: view

Protein tissue co-expression partners for LRAT Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia LRAT 35
  • 99.57 (n)
  • 99.57 (a)
LRAT 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrat 35
  • 80.56 (n)
  • 78.95 (a)
oppossum
(Monodelphis domestica)
Mammalia LRAT 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRAT 36
  • 82 (a)
OneToOne
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 lratb 35
  • 60.32 (n)
  • 59.73 (a)
LRAT 36
  • 47 (a)
OneToOne
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
VAR_018386 Leber congenital amaurosis 14 (LCA14)
VAR_063559 -
rs23272 -- 154,687,837(+) GCCCA(G/T)GCTGA intron-variant
rs276161 -- 154,684,662(+) TTTAC(A/G)TGTTT intron-variant
rs276162 -- 154,685,222(+) TTAAC(A/T)ACCTT intron-variant

Variation tolerance for LRAT Gene

Residual Variation Intolerance Score: 60.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRAT Gene

HapMap Linkage Disequilibrium report
LRAT
Human Gene Mutation Database (HGMD)
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

MalaCards: The human disease database

(10) MalaCards diseases for LRAT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search LRAT in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for LRAT

Genetic Association Database (GAD)
LRAT
Human Genome Epidemiology (HuGE) Navigator
LRAT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRAT
genes like me logo Genes that share disorders with LRAT: view

No data available for Genatlas for LRAT Gene

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 67
  2. FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferase. (PMID: 20356843) Guignard T.J. … Brabet P. (J. Biol. Chem. 2010) 3 23
  3. Lecithin: retinol acyltransferase protein is distributed in both hepatic stellate cells and endothelial cells of normal rodent and human liver. (PMID: 18544127) Nagatsuma K. … Matsuura T. (Liver Int. 2009) 3 23
  4. Retinoic acid receptors and GATA transcription factors activate the transcription of the human lecithin:retinol acyltransferase gene. (PMID: 18652909) Cai K. … Gudas L.J. (Int. J. Biochem. Cell Biol. 2009) 3 23
  5. Overexpression of lecithin:retinol acyltransferase in the epithelial basal layer makes mice more sensitive to oral cavity carcinogenesis induced by a carcinogen. (PMID: 19471114) Tang X.H. … Gudas L.J. (Cancer Biol. Ther. 2009) 3 23

Products for LRAT Gene

Sources for LRAT Gene

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