LRAT
entrez
9227
canonical
uniprot
O95237
canonical
ensembl
ENSG00000121207
resolver
ensp
ENSP00000337224
resolver
ensp
ENSP00000426761
resolver
ensp
ENSP00000581806
resolver
ensp
ENSP00000581807
resolver
ensp
ENSP00000767065
resolver
enst
ENST00000336356
resolver
enst
ENST00000507827
resolver
enst
ENST00000911747
resolver
enst
ENST00000911748
resolver
genesymbol
LRAT
resolver
hgnc
HGNC:6685
resolver
uniprot
A8K983
resolver
uniprot
Q8N716
resolver
uniprot_entry
LRAT_HUMAN
resolver
uniprot_sec
A8K983
resolver
uniprot_sec
Q8N716
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by all-trans-retinyl alpha-bromoacetate and N-boc-L-biocytinyl-11-aminoundecane chloro-methyl ketone (BACMK). {ECO:0000269|PubMed:9920938}.
uniprot
proteins
amino_acid_sequence
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLALTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNNCEHFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG
uniprot
proteins
disease_involvement
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.
uniprot
proteins
ec_number
2.3.1.135
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
25703
uniprot
proteins
mutagenesis
MUTAGEN 161; /note="C->A,S: Loss of activity."; /evidence="ECO:0000269|PubMed:10819989"; MUTAGEN 168; /note="C->A: Loss of activity."; /evidence="ECO:0000269|PubMed:10819989"; MUTAGEN 168; /note="C->S: Does not affect activity."; /evidence="ECO:0000269|PubMed:10819989"; MUTAGEN 182; /note="C->A: Does not affect activity."; /evidence="ECO:0000269|PubMed:10819989"; MUTAGEN 208; /note="C->A: Does not affect activity."; /evidence="ECO:0000269|PubMed:10819989
uniprot
proteins
pathway_participation
PATHWAY: Cofactor metabolism; retinol metabolism.
uniprot
proteins
protein_family
H-rev107 family
uniprot
proteins
pubmed
10819989
uniprot
proteins
pubmed
11381255
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15474300
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17011878
uniprot
proteins
pubmed
18055821
uniprot
proteins
pubmed
18544127
uniprot
proteins
pubmed
9920938
uniprot
proteins
sequence_length
230
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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}.
uniprot
proteins
transmembrane_region
TRANSMEM 195..215; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins