InnateDB Protein
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IDBP-42232.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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LRAT
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Protein Name
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lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
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Synonyms
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LCA14;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000337224
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InnateDB Gene
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IDBG-42230 (LRAT)
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Protein Structure
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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}.
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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}.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007053
LRAT-like domain
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PFAM |
PF04970
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O95237
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PhosphoSite |
PhosphoSite-O95237
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TrEMBL |
D6RC94
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UniProt Splice Variant |
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Entrez Gene |
9227
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UniGene |
Hs.736130
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RefSeq |
NP_004735
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HUGO |
HGNC:6685
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OMIM |
604863
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CCDS |
CCDS3789
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HPRD |
05332
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IMGT |
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EMBL |
AC009567
AC092616
AC107385
AF071510
AK292598
AY546085
AY546086
BC031053
CH471056
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GenPept |
AAD13529
AAH31053
AAS49412
AAS49413
BAF85287
EAX04904
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