NucEnvDB

NucEnvDB

A database of Nuclear Envelope Proteins and their Interactions

Lecithin retinol acyltransferase - Homo sapiens - NucEnvDB

Lecithin retinol acyltransferase (Homo sapiens)

FASTA TEXT XML

Subcellular Location Biology & Function Disease Associations Interactions Cross-References

General Information

Protein Information
Protein Name	Lecithin retinol acyltransferase
Accession Code	O95237
Gene	LRAT
Organism	Homo sapiens \| Human (Taxonomy: 9606)
Part of Reference Proteome?	Yes
Sequence (Length: 230)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLALTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDES LQKKALLNEEVARRAEKLLGFTPYSLLWNNCEHFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG

Subcellular Location

Description
Endoplasmic reticulum membrane {By Similarity}; Single-pass membrane protein {By Similarity}. Rough endoplasmic reticulum {By Similarity}. Endosome, multivesicular body {By Similarity}. Cytoplasm, perinuclear region {By Similarity}. 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). {By Similarity}.
Position in the Nuclear Envelope
Location	Location ID	Description
Perinuclear Region	SL-0198	The perinuclear region is the cytoplasmic region just around the nucleus.
Membrane Topology
Topology	Source	Annotation Type
Transmembrane	UniProt	Sequence Analysis {ECO:0000255}
Assigned Ontology terms

Cellular Component	Endoplasmic Reticulum (GO:0005783) Endoplasmic Reticulum Membrane (GO:0005789) Multivesicular Body (GO:0005771) Perinuclear Region Of Cytoplasm (GO:0048471) Rough Endoplasmic Reticulum (GO:0005791)

Biology & Function

Description
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). {By SimilarityUniProtKB:Q9JI60, Experimental EvidencePubMed:9920938, Curator InferencePubMed:9920938}.
Assigned Ontology terms

Biological Process	Cellular Response To Leukemia Inhibitory Factor (GO:1990830) Positive Regulation Of Lipid Transport (GO:0032370) Response To Bacterium (GO:0009617) Response To Retinoic Acid (GO:0032526) Response To Vitamin A (GO:0033189) Retinoid Metabolic Process (GO:0001523) Retinol Metabolic Process (GO:0042572) Visual Perception (GO:0007601) Vitamin A Metabolic Process (GO:0006776)
Molecular Function	Acyltransferase Activity (GO:0016746) Lecithin:11-Cis Retinol Acyltransferase Activity (GO:0102279) O-Palmitoyltransferase Activity (GO:0016416) Phosphatidylcholine-Retinol O-Acyltransferase Activity (GO:0047173) Retinoic Acid Binding (GO:0001972) Retinol Binding (GO:0019841)

Disease associations

Description
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. {Experimental EvidencePubMed:11381255, Experimental EvidencePubMed:17011878, Experimental EvidencePubMed:18055821}. Note=The disease is caused by variants affecting the gene represented in this entry.
Database Associations
OMIM	604863 613341
DisGeNET	9227

Protein-Protein Interactions

Interactions with other proteins (4 interactors)

Partner (UniProt)		IntAct	Confidence score
Q9Y320	Thioredoxin-related transmembrane protein 2 (Cell proliferation-inducing gene 26 protein) (Thioredoxin domain-containing protein 14)	EBI-23786490	0.56
P62952	Bladder cancer-associated protein (Bladder cancer 10 kDa protein) (Bc10)	EBI-24746858	0.56
Q7Z5P4	17-beta-hydroxysteroid dehydrogenase 13 (17-beta-HSD 13) (EC 1.1.-.-) (Short chain dehydrogenase/reductase family 16C member 3) (Short-chain dehydrogenase/reductase 9)	EBI-25181851	0.56
O60361	Putative nucleoside diphosphate kinase (NDK) (NDP kinase) (EC 2.7.4.6)	EBI-21771578	0.40

Cross-References

Database	Links
UNIPROT	O95237 A8K983 Q8N716
Pfam	PF04970
PROSITE	PS51934
OMIM	604863 613341
DisGeNET	9227

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