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 spli... See more...

Aliases for LRAT Gene

Aliases for LRAT Gene

  • Lecithin Retinol Acyltransferase 2 3 4 5
  • Lecithin Retinol Acyltransferase (Phosphatidylcholine--Retinol O-Acyltransferase) 2 3
  • Phosphatidylcholine--Retinol O-Acyltransferase 2 4
  • EC 2.3.1.135 4 51
  • LCA14 2 3
  • LRAT 5

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) is a Protein Coding gene. Diseases associated with LRAT include Leber Congenital Amaurosis 14 and Severe Early-Childhood-Onset Retinal Dystrophy. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and retinol binding. An important paralog of this gene is LRATD2.

UniProtKB/Swiss-Prot Summary for LRAT Gene

  • Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters (PubMed:9920938). Retinyl esters are storage forms of vitamin A (Probable). LRAT plays a critical role in vision (Probable). 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 (Probable). Required for the survival of cone photoreceptors and correct rod photoreceptor cell morphology (By similarity).

Gene Wiki entry for LRAT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRAT Gene

Genomics for LRAT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LRAT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J154626 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 605.6 0.0 -44 1 HNRNPL CTCF PATZ1 REST MGA RAD21 CBX3 CTBP1 YY1 ZBTB26 LRAT HSALNG0038001 lnc-LRAT-1 FGG
GH04J154740 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 610.8 +117.7 117747 7.4 CTCF PATZ1 POLR2A EZH2 SP2 ZNF184 CTBP1 YY1 ETS1 SIN3A LRAT ENSG00000249041 RBM46 FGG PLRG1 piR-39361 piR-58193 piR-53589 piR-41583 piR-61292
GH04J154627 Promoter 0.4 Ensembl 600.7 +0.8 755 0.2 EZH2 HSALNG0038001 LRAT lnc-LRAT-1 piR-32810-093 RBM46
GH04J154549 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.6 -76.7 -76745 2.8 GATAD2A POLR2A JUND LARP7 GABPA ZNF143 RBFOX2 REST SMAD5 IRF2 PLRG1 lnc-FGB-7 FGG LRAT RNU6-1285P RF00026-832 DCHS2
GH04J154659 Enhancer 1.4 VISTA Ensembl ENCODE 12 +33.3 33283 1.4 GATAD2A REST SOX13 RCOR2 RXRB IRF2 SP1 GABPA PBX2 CEBPA piR-31926-022 LRAT lnc-LRAT-1 lnc-RBM46-2 NDUFB2P1 RBM46
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRAT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRAT

Top Transcription factor binding sites by QIAGEN in the LRAT gene promoter:
  • aMEF-2
  • FOXL1
  • HFH-1
  • Lmo2
  • MEF-2A
  • Nkx2-5
  • Pax-3
  • Sox5
  • TBP

Genomic Locations for LRAT Gene

Genomic Locations for LRAT Gene
chr4:154,626,945-154,753,120
(GRCh38/hg38)
Size:
126,176 bases
Orientation:
Plus strand
chr4:155,548,097-155,674,270
(GRCh37/hg19)
Size:
126,174 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

Selected DME Specific Peptides for LRAT Gene

O95237:
  • HYGIYLG
  • ILVNHLD
  • VASIRVDTVEDFAYGA

Post-translational modifications for LRAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LRAT Gene

Domains & Families for LRAT Gene

Gene Families for LRAT Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for LRAT Gene

InterPro:
Blocks:
  • NC
ProtoNet:

Suggested Antigen Peptide Sequences for LRAT Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylcholine--retinol O-acyltransferase (LRAT_HUMAN)

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

Function for LRAT Gene

Molecular function for LRAT Gene

UniProtKB/Swiss-Prot Function:
Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters (PubMed:9920938). Retinyl esters are storage forms of vitamin A (Probable). LRAT plays a critical role in vision (Probable). 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 (Probable). Required for the survival of cone photoreceptors and correct rod photoreceptor cell morphology (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = a 2-acyl-sn-glycero-3-phosphocholine + an all-trans-retinyl ester + apo--[retinol-binding protein]; Xref=Rhea:RHEA:17469, Rhea:RHEA-COMP:14426, Rhea:RHEA-COMP:14428, ChEBI:CHEBI:17336, ChEBI:CHEBI:57643, ChEBI:CHEBI:57875, ChEBI:CHEBI:63410, ChEBI:CHEBI:83228; EC=2.3.1.135; Evidence={ECO:0000305|PubMed:10819989};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-dihexadecanoyl-sn-glycero-3-phosphocholine + all-trans-retinol = all-trans-retinyl hexadecanoate + hexadecanoyl-sn-glycero-3-phosphocholine; Xref=Rhea:RHEA:43904, ChEBI:CHEBI:17336, ChEBI:CHEBI:17616, ChEBI:CHEBI:64563, ChEBI:CHEBI:72999; Evidence={ECO:0000269|PubMed:10819989};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-diheptanoyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = 2-heptanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl heptanoate + apo--[retinol-binding protein]; Xref=Rhea:RHEA:55320, Rhea:RHEA-COMP:14426, Rhea:RHEA-COMP:14428, ChEBI:CHEBI:17336, ChEBI:CHEBI:83228, ChEBI:CHEBI:138195, ChEBI:CHEBI:138266, ChEBI:CHEBI:138724; Evidence={ECO:0000250|UniProtKB:Q9JI60};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-dioctanoyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = 2-octanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl octanoate + apo--[retinol-binding protein]; Xref=Rhea:RHEA:56240, Rhea:RHEA-COMP:14426, Rhea:RHEA-COMP:14428, ChEBI:CHEBI:17336, ChEBI:CHEBI:78228, ChEBI:CHEBI:83228, ChEBI:CHEBI:140082, ChEBI:CHEBI:140084; Evidence={ECO:0000250|UniProtKB:Q9JI60};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-dihexadecanoyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = 2-hexadecanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl hexadecanoate + apo--[retinol-binding protein]; Xref=Rhea:RHEA:56244, Rhea:RHEA-COMP:14426, Rhea:RHEA-COMP:14428, ChEBI:CHEBI:17336, ChEBI:CHEBI:17616, ChEBI:CHEBI:72999, ChEBI:CHEBI:76078, ChEBI:CHEBI:83228; Evidence={ECO:0000250|UniProtKB:Q9JI60};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-didodecanoyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = 2-dodecanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl dodecanoate + apo--[retinol-binding protein]; Xref=Rhea:RHEA:56248, Rhea:RHEA-COMP:14426, Rhea:RHEA-COMP:14428, ChEBI:CHEBI:17336, ChEBI:CHEBI:65211, ChEBI:CHEBI:83228, ChEBI:CHEBI:140088, ChEBI:CHEBI:140089; Evidence={ECO:0000250|UniProtKB:Q9JI60};.
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).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by all-trans-retinyl alpha-bromoacetate and N-boc-L-biocytinyl-11-aminoundecane chloro-methyl ketone (BACMK).

Enzyme Numbers (IUBMB) for LRAT Gene

Phenotypes From GWAS Catalog 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 IEA --
GO:0016416 O-palmitoyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups TAS 9920938
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:
  • Lrat Lrat<tm1.1Bok>
  • Lrat Lrat<tm1Kpal>
  • Lrat Lrat<tm1.1(KOMP)Vlcg>
  • Lrat Lrat<tm1Log>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRAT

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRAT gene
Compartment Confidence
endoplasmic reticulum 4
endosome 4
extracellular 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
nucleus 2
mitochondrion 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (1)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005771 multivesicular body ISS --
GO:0005783 endoplasmic reticulum IEA,ISS --
GO:0005789 endoplasmic reticulum membrane TAS --
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

Pathways by source for LRAT Gene

1 GeneGo (Thomson Reuters) pathway for LRAT Gene
  • Retinol metabolism
1 Qiagen pathway for LRAT Gene
  • Visual Cycle in Retinal Rods

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,ISS --
GO:0007601 visual perception IEA --
GO:0009617 response to bacterium IEA --
GO:0032370 positive regulation of lipid transport 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Target, substrate 685
Isopropyl alcohol Approved, Investigational Pharma 0
Propyl alcohol Approved, Experimental Pharma 0
1-Butanol Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Retinyl ester
  • 56-Dihydroretinoic acid
  • all-e-Retinoic acid
  • 56-Dihydroretinoate
  • all-e-Retinoate
  • all-trans-Retinyl ester
retinyl palmitate
  • all-trans-Retinyl hexadecanoate
  • Retinol palmitate
  • Vitamin a palmitate
  • all-trans-Retinyl hexadecanoic acid
  • Retinyl palmitic acid
79-81-2
11-cis-Retinyl palmitate
  • 11-cis-Retinyl palmitic acid
  • 11-cis-Retinyl hexadecanoate
  • 11-cis-Retinyl hexadecanoic acid
51249-33-3
1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Caproic alcohol
  • Hexanol
  • N-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Amyl alcohol, normal
  • Amylalkohol
71-41-0
genes like me logo Genes that share compounds with LRAT: view

Transcripts for LRAT Gene

mRNA/cDNA for LRAT Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRAT

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

Expression for LRAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for LRAT Gene



Protein tissue co-expression partners for LRAT Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRAT

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.

Evidence on tissue expression from TISSUES for LRAT Gene

  • Liver(4.5)
  • Eye(2.5)
  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LRAT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • olfactory bulb
  • outer ear
  • skull
Abdomen:
  • liver
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with LRAT: view

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 30 31
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LRAT 30 31
  • 88.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LRAT 30 31
  • 88.7 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LRAT 31
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LRAT 31
  • 82 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Lrat 30 17 31
  • 81.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lrat 30
  • 80.56 (n)
Chicken
(Gallus gallus)
Aves LRAT 30 31
  • 71.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LRAT 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lrat 30
  • 66.67 (n)
MGC75880 30
Zebrafish
(Danio rerio)
Actinopterygii lratb 30
  • 60.32 (n)
LRAT 31
  • 47 (a)
OneToOne
Species where no ortholog for LRAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for LRAT: view image

Paralogs for LRAT Gene

Paralogs for LRAT Gene

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

Variants for LRAT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRAT Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
636179 Likely Pathogenic: Retinitis pigmentosa 154,744,588(+) A/ACG FRAMESHIFT_VARIANT
667379 Likely Pathogenic: Leber congenital amaurosis 154,744,366(+) G/T NONSENSE
707021 Likely Benign: not provided 154,749,054(+) C/T MISSENSE_VARIANT
772188 Benign: not provided 154,749,070(+) G/A SYNONYMOUS_VARIANT
798159 Benign: not provided 154,744,334(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for LRAT Gene

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)

Additional Variant Information for LRAT Gene

Human Gene Mutation Database (HGMD)
LRAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRAT

SNP Genotyping and Copy Number Assay Products

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

(34) MalaCards diseases for LRAT Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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.

Additional Disease Information for LRAT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (The Journal of biological chemistry 1999) 2 3 4 23
  2. 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 international : official journal of the International Association for the Study of the Liver 2009) 3 4 23
  3. A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. (PMID: 18823527) Abraham R … Kirov G (BMC medical genomics 2008) 3 23 41
  4. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. (PMID: 18055821) den Hollander AI … Koenekoop RK (Investigative ophthalmology & visual science 2007) 3 4 23
  5. Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. (PMID: 17011878) Sénéchal A … Hamel CP (American journal of ophthalmology 2006) 3 4 23

Products for LRAT Gene

  • Signalway Proteins for LRAT

Sources for LRAT Gene