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    LRAT lecithin retinol acyltransferase [ Homo sapiens (human) ]

    Gene ID: 9227, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LRATprovided by HGNC
    Official Full Name
    lecithin retinol acyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:6685
    See related
    Ensembl:ENSG00000121207 MIM:604863; AllianceGenome:HGNC:6685
    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
    Also known as
    LCA14
    Summary
    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]
    Expression
    Biased expression in duodenum (RPKM 4.0), small intestine (RPKM 3.3) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRAT in Genome Data Viewer
    Location:
    4q32.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (154740838..154753120)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (158072645..158084927)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (155661990..155674272)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22080 Neighboring gene uncharacterized LOC124900169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15768 Neighboring gene fibrinogen gamma chain Neighboring gene VISTA enhancer hs1707 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:155640039-155641238 Neighboring gene NANOG hESC enhancer GRCh37_chr4:155641835-155642399 Neighboring gene NADH:ubiquinone oxidoreductase subunit B2 pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:155662965-155663478 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:155663479-155663990 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:155663991-155664503 Neighboring gene uncharacterized LOC105377500 Neighboring gene RNA, U2 small nuclear 66, pseudogene Neighboring gene RNA binding motif protein 46

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Distribution of 11-cis LRAT, 11-cis RD and 11-cis REH in bovine retinal pigment epithelium membranes. Mata NL, et al. Biochim Biophys Acta, 1998 Oct 2. PMID 9767084
    2. Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. Sénéchal A, et al. Am J Ophthalmol, 2006 Oct. PMID 17011878
    3. Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. Sweeney MO, et al. Mol Vis, 2007 Apr 5. PMID 17438524, Free PMC Article
    4. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. den Hollander AI, et al. Invest Ophthalmol Vis Sci, 2007 Dec. PMID 18055821
    5. Retinoic acid receptors and GATA transcription factors activate the transcription of the human lecithin:retinol acyltransferase gene. Cai K, et al. Int J Biochem Cell Biol, 2009 Mar. PMID 18652909, Free PMC Article

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The c.541-15T>G mutation in LRAT results in aberrant splicing and is therefore predicted to be causal for the early onset retinitis pigmentosa in this family.
      Title: A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa.
    2. The genetic analysis performed on our proband showed a novel homozygous mutation on codon 119 of lecithin-cholesterol acyltransferase gene that causes the substitution of glycine by aspartate
      Title: A novel homozygous mutation causing lecithin-cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia.
    3. instability of LRAT(E14L) did not abrogate the production of the visual chromophore in a cell-based assay. Instead, expression of LRAT(E14L) led to a rapid increase in cellular levels of retinoic acid upon retinoid supplementation.
      Title: Impact of LCA-Associated E14L LRAT Mutation on Protein Stability and Retinoid Homeostasis.
    4. LRAT hypermethylation was associated with decreased mRNA levels in colorectal cancer clinical specimens.
      Title: High incidence of LRAT promoter hypermethylation in colorectal cancer correlates with tumor stage.
    5. lecithin retinol acyltransferase affects all-trans retinoic acid levels and has a role in retinoid sensitivity in malignant melanoma cells.
      Title: Knockdown of lecithin retinol acyltransferase increases all-trans retinoic acid levels and restores retinoid sensitivity in malignant melanoma cells.
    6. These findings reveal structural adaptation that facilitates selective catalysis and mechanism responsible for diverse substrate specificity within the LRAT-like enzyme family
      Title: LRAT-specific domain facilitates vitamin A metabolism by domain swapping in HRASLS3.
    7. high LRAT expression in melanoma might be important in removing retinol as substrate for RA production, thereby inducing signalling pathways leading to dedifferentiation, proliferation and anti-apoptosis
      Title: Lecithin retinol acyltransferase as a potential prognostic marker for malignant melanoma.
    8. Functional hepatic stellate cells coexpressing both LRAT and CRBP-1, that continue to maintain the ability to store vitamin A, contribute in part to the development of portal and parenchymal fibrogenesis in patients with viral hepatitis.
      Title: Hepatic stellate cells that coexpress LRAT and CRBP-1 partially contribute to portal fibrogenesis in patients with human viral hepatitis.
    9. Lecithin-retinol acyltransferase is a thermostable and highly active enzyme with a likely mode of interfacial activation.
      Title: Enzymatic activity of Lecithin:retinol acyltransferase: a thermostable and highly active enzyme with a likely mode of interfacial activation.
    10. A genetic defect was identified in LRAT as a novel cause of retinitis punctata albescens.
      Title: A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31672, MGC33103

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables O-palmitoyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables acyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables phosphatidylcholine-retinol O-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylcholine-retinol O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylcholine-retinol O-acyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables retinoic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables retinol binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to vitamin A IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retinoid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in retinol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retinol metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retinol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vitamin A metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vitamin A metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in multivesicular body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in rough endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in rough endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    lecithin retinol acyltransferase
    Names
    lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
    NP_001288574.1
    NP_004735.2
    XP_047272361.1
    XP_054207217.1

    NCBI Reference Sequences (RefSeq)

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    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_009110.1 RefSeqGene

      Range
      4990..14110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301645.2 → NP_001288574.1  lecithin retinol acyltransferase precursor

      See identical proteins and their annotated locations for NP_001288574.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC009567, AY546086, BC031053, DB364008
      Consensus CDS
      CCDS3789.1
      UniProtKB/Swiss-Prot
      A8K983, O95237, Q8N716
      Related
      ENSP00000426761.1, ENST00000507827.5
      Conserved Domains (1) summary
      pfam04970
      Location:59 → 173
      LRAT; Lecithin retinol acyltransferase

    2. NM_004744.5 → NP_004735.2  lecithin retinol acyltransferase precursor

      See identical proteins and their annotated locations for NP_004735.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC009567, AK292598, AY546086, DB364008
      Consensus CDS
      CCDS3789.1
      UniProtKB/Swiss-Prot
      A8K983, O95237, Q8N716
      Related
      ENSP00000337224.3, ENST00000336356.4
      Conserved Domains (1) summary
      pfam04970
      Location:59 → 173
      LRAT; Lecithin retinol acyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      154740838..154753120
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416405.1 → XP_047272361.1  lecithin retinol acyltransferase isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      158072645..158084927
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351242.1 → XP_054207217.1  lecithin retinol acyltransferase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95237.2 GenPept UniProtKB/Swiss-Prot:O95237

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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