InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LRAT

Summary

InnateDB Protein

IDBP-476465.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LRAT

Protein Name

lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)

Synonyms

LCA14;

Species

Homo sapiens

Ensembl Protein

ENSP00000426761

InnateDB Gene

IDBG-42230 (LRAT)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:9920938}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Rough endoplasmic reticulum {ECO:0000250}. Endosome, multivesicular body {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}. 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}.

Disease Associations

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:0000269PubMed:11381255, ECO:0000269PubMed:17011878, ECO:0000269PubMed:18055821}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:18544127, ECO:0000269PubMed:9920938}.

Comments

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:0016746	transferase activity, transferring acyl groups
GO:0047173	phosphatidylcholine-retinol O-acyltransferase activity

Biological Process

GO:0001523	retinoid metabolic process
GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0042572	retinol 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:0048471	perinuclear region of cytoplasm