Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     Covered on Genetics Home Reference: Leber congenital amaurosisretinitis pigmentosaFrom NCBI Gene: Leber congenital amaurosis 14Retinitis pigmentosaFrom UniProt: Leber congenital amaurosis 14 (LCA14): 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. [MIM:613341]

     From NCBI 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] From UniProt: 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.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• Nkx2-2
• XBP-1
• Meis-1
• Lmo2
• Meis-1b
• FOXL1

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.

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.

Enzyme Regulation:

Inhibited by all-trans-retinyl alpha-bromoacetate and N-boc-L-biocytinyl-11-aminoundecane chloro-methyl ketone (BACMK).

Molecular Function:

• Lecithin:11-Cis Retinol Acyltransferase Activity
• O-Palmitoyltransferase Activity
• Phosphatidylcholine-Retinol O-Acyltransferase Activity
• Retinoic Acid Binding
• Retinol Binding
• Transferase Activity, Transferring Acyl Groups

Biological Processes:

• Positive Regulation Of Lipid Transport
• Response To Stimulus
• Retinoic Acid Metabolic Process
• Retinoid Metabolic Process
• Retinol Metabolic Process
• Visual Perception
• Vitamin A Metabolic Process

Drug Bank:

• Vitamin A

*synonyms