ID  O95237;
PN  Lecithin retinol acyltransferase;
GN  LRAT;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: 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}.
DR  UNIPROT: O95237;
DR  UNIPROT: A8K983;
DR  UNIPROT: Q8N716;
DR  Pfam: PF04970;
DR  PROSITE: PS51934;
DR  OMIM: 604863;
DR  OMIM: 613341;
DR  DisGeNET: 9227;
DE  Function: Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters (PubMed:9920938). Retinyl esters are storage forms of vitamin A (Probable). LRAT plays a critical role in vision (Probable). 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 (Probable). Required for the survival of cone photoreceptors and correct rod photoreceptor cell morphology (By similarity). {ECO:0000250|UniProtKB:Q9JI60, ECO:0000269|PubMed:9920938, ECO:0000305|PubMed:9920938}.
DE  Disease: 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:0000269|PubMed:11381255, ECO:0000269|PubMed:17011878, ECO:0000269|PubMed:18055821}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: Q9Y320; IntAct: EBI-23786490; Score: 0.56
DE  Interaction: P62952; IntAct: EBI-24746858; Score: 0.56
DE  Interaction: Q7Z5P4; IntAct: EBI-25181851; Score: 0.56
DE  Interaction: O60361; IntAct: EBI-21771578; Score: 0.40
GO  GO:0005783;
GO  GO:0005789;
GO  GO:0016021;
GO  GO:0005771;
GO  GO:0048471;
GO  GO:0005791;
GO  GO:0016746;
GO  GO:0102279;
GO  GO:0016416;
GO  GO:0047173;
GO  GO:0001972;
GO  GO:0019841;
GO  GO:1990830;
GO  GO:0032370;
GO  GO:0009617;
GO  GO:0032526;
GO  GO:0033189;
GO  GO:0001523;
GO  GO:0042572;
GO  GO:0007601;
GO  GO:0006776;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA
SQ  LTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN
SQ  CEHFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG
//