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LRAT lecithin retinol acyltransferase [ Homo sapiens (human) ]

Gene ID: 9227, updated on 7-Dec-2018

Summary

Official Symbol
LRATprovided by HGNC
Official Full Name
lecithin retinol acyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:6685
See related
Ensembl:ENSG00000121207 MIM:604863
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

Genomic context

See LRAT in Genome Data Viewer
Location:
4q32.1
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (154740841..154753119)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (155665163..155674270)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1707 Neighboring gene NADH:ubiquinone oxidoreductase subunit B2 pseudogene 2 Neighboring gene uncharacterized LOC105377500 Neighboring gene RNA, U2 small nuclear 66, pseudogene Neighboring gene RNA binding motif protein 46

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31672, MGC33103

Gene Ontology Provided by GOA

Function Evidence Code Pubs
O-palmitoyltransferase activity TAS
Traceable Author Statement
more info
 
lecithin:11-cis retinol acyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
phosphatidylcholine-retinol O-acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine-retinol O-acyltransferase activity TAS
Traceable Author Statement
more info
 
retinoic acid binding IEA
Inferred from Electronic Annotation
more info
 
retinol binding IEA
Inferred from Electronic Annotation
more info
 
transferase activity, transferring acyl groups TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
positive regulation of lipid transport IEA
Inferred from Electronic Annotation
more info
 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
response to vitamin A IEA
Inferred from Electronic Annotation
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
retinol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
retinol metabolic process IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
vitamin A metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
multivesicular body ISS
Inferred from Sequence or Structural Similarity
more info
 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
rough endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    4961..14109
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001301645.1NP_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)
    AY546086, BC031053, DB364008
    Consensus CDS
    CCDS3789.1
    UniProtKB/Swiss-Prot
    O95237
    Related
    ENSP00000426761.1, ENST00000507827.5
    Conserved Domains (1) summary
    pfam04970
    Location:56173
    LRAT; Lecithin retinol acyltransferase
  2. NM_004744.5NP_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
    O95237
    Related
    ENSP00000337224.3, ENST00000336356.3
    Conserved Domains (1) summary
    pfam04970
    Location:56173
    LRAT; Lecithin retinol acyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    154740841..154753119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_938793.2 RNA Sequence

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