Homo sapiens Gene: LRAT
Summary
InnateDB Gene IDBG-42230.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LRAT
Gene Name lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
Synonyms LCA14;
Species Homo sapiens
Ensembl Gene ENSG00000121207
Encoded Proteins
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a microsomal enzyme that catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester, an essential reaction for the retinoid cycle in visual system and vitamin A status in liver. Mutations in this gene have been associated with early-onset severe retinal dystrophy. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:154626945-154753118
Strand Forward strand
Band q32.1
Transcripts
ENST00000336356 ENSP00000337224
ENST00000500890
ENST00000502525 ENSP00000422324
ENST00000499392
ENST00000507827 ENSP00000426761
ENST00000510733
ENST00000502474
ENST00000510919
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001972 retinoic acid binding
GO:0008374 O-acyltransferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0019841 retinol binding
GO:0047173 phosphatidylcholine-retinol O-acyltransferase activity
Biological Process
GO:0001523 retinoid metabolic process
GO:0006776 vitamin A metabolic process
GO:0007601 visual perception
GO:0007603 phototransduction, visible light
GO:0042572 retinol metabolic process
GO:0042573 retinoic acid metabolic process
Cellular Component
GO:0005771 multivesicular body
GO:0005789 endoplasmic reticulum membrane
GO:0005791 rough endoplasmic reticulum
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Retinoid metabolism and transport pathway
The canonical retinoid cycle in rods (twilight vision) pathway
Signal Transduction pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
Disease pathway
KEGG
Retinol metabolism pathway
INOH
PID BIOCARTA
PID NCI
Visual signal transduction: Cones
Visual signal transduction: Rods
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.621689 Hs.658427 Hs.736130
RefSeq NM_004744 XM_006714412
HUGO
OMIM
CCDS CCDS3789
HPRD 05332
IMGT
EMBL
GenPept
RNA Seq Atlas