2.3.1.135	C161S	hypomorphic mutant	758452	
2.3.1.135	D128N	site-directed mutagenesis, construction of an N-glycosylation site for enzyme membrane localization and orientation studies, overview	674832	
2.3.1.135	E14L	naturally occuring substitution localized in an N-terminal alpha-helix. The mutant protein is instable and shows accelerated proteosomal degradation. The instability of E14L does not abrogate the production of the visual chromophore in a cell-based assay. Eexpression of E14L leads to a rapid increase in cellular levels of retinoic acid upon retinoid supplementation	756046	
2.3.1.135	I42N	site-directed mutagenesis, construction of an N-glycosylation site for enzyme membrane localization and orientation studies, overview	674832	
2.3.1.135	K104A	site-directed mutagenesis, reduced activity compared to the truncated wild-type enzyme	658075	
2.3.1.135	K133A	site-directed mutagenesis, increased activity compared to the truncated wild-type enzyme	658075	
2.3.1.135	K133A/K134A	site-directed mutagenesis, slightly increased activity compared to the truncated wild-type enzyme	658075	
2.3.1.135	K134A	site-directed mutagenesis, increased activity compared to the truncated wild-type enzyme	658075	
2.3.1.135	K147A	site-directed mutagenesis, reduced activity compared to the truncated wild-type enzyme	658075	
2.3.1.135	K180A	site-directed mutagenesis, nearly inactive mutant	658075	
2.3.1.135	K180R	site-directed mutagenesis, reduced activity compared to the truncated wild-type enzyme	658075	
2.3.1.135	K186A	site-directed mutagenesis, nearly inactive mutant	658075	
2.3.1.135	K186R	site-directed mutagenesis, reduced activity compared to the truncated wild-type enzyme	658075	
2.3.1.135	K90A	site-directed mutagenesis, highly reduced activity compared to the truncated wild-type enzyme	658075	
2.3.1.135	K95A	site-directed mutagenesis, highly reduced activity compared to the truncated wild-type enzyme	658075	
2.3.1.135	additional information	construction of a truncated enzyme version, tLRAT, that shows enzyme activity, but leads to physiological dysfunction of the protein by causing retinis pigmentosa	719418, 720353	
2.3.1.135	additional information	construction of chimeric proteins between LRAT and human HRASLS2, HRASLS3 and HRASLS4 by by replacing the native sequence of HRASLS2, 3, and 4 (residues 39-57) with the 30 aa mouse LRAT sequence 76DILLALTNDKERTQKVVSNKRLLLGVICKV106	736858	
2.3.1.135	additional information	construction of Ntm LRAT, a truncation mutant lacking the putative C-terminal transmembrane domain corresponding to Met1–Ser195, and Ctm LRAT, a mutant lacking the putative N-terminal transmembrane domain corresponding to Gly35–Gly231, the Ntm mutant is not located in the endoplasmic reticulum membrane, but localized to small cytoplasmic structures that are distinct from the ER, while the wild-type and the Ctm mutant are localized in the membrane	674832	
2.3.1.135	additional information	disruption of the CRBP-III gene and generation of CRBPIII-/- mice, method, overview, [cellular retinol-binding protein III]-deficient female mice produce milk with less retinyl ester content, especially retinyl-palmitate, compared to wild-type mice, the expression of CRBP-I is increased in adipose tissue of CRBP-III-/- mice compared to the wild-type mice	-, 674449	
2.3.1.135	additional information	ectopic expression of human lecithin:retinol acyltransferase in murine basal layer of mouse skin and oral cavity epithelia	702997	
2.3.1.135	additional information	gene Lrat disruption by targeted recombination for generation of a homozygous knockout mutant, the mutant mice develop normally, but the rod outer segments in the retina are about 35% shorter than those of wild-type mice, rod and cone visual functions are severely attenuated at an early age	659309	
2.3.1.135	additional information	generation of a transgenic reporter mouse expressing green fluorescence protein under the control of region containing -1166 bps from promoter upstream from the putative transcriptional start site of LRAT and 262 bps downstream of this start. Transgenic reporter mice exhibit specific expression in eyes and testes	736951	
2.3.1.135	additional information	human and mouse enzyme differ in residue 173. A significant difference is observed between the intrinsic fluorescence emission as well as between the circular dichroism spectra of a truncated mouse LRAT (R173) and truncated human LRAT (P173). Truncated mouse LRAT is less thermostable than truncated human LRAT	755984	
2.3.1.135	additional information	human and mouse enzyme differ in residue 173. A significant difference is observed between the intrinsic fluorescence emission as well as between the circular dichroism spectra of a truncated mouse LRAT (R173) and truncated human LRAT (P173). Truncated mouse LRAT is less thermostable than truncated human LRAT and displays lower catalytic activity	755984	
2.3.1.135	additional information	retinoid absorption and storage is impaired in mice lacking lecithin:retinol acyltransferase, Lrat-deficient mice possess only trace amounts of retinyl esters in liver, lung, and kidney, intestinal absorption of retinol is impaired in the absence of LRAT, they possess 2–3fold elevated concentrations of retinyl esters in adipose tissue compared with wild type mice, they show 3-4fold upregulation in the level of cytosolic retinol-binding protein type III in adipose tissue, and a striking total absence of large lipid-containing droplets that normally store hepatic retinoid within the hepatic stellate cells, despite the absence of significant retinyl ester stores and stellate cell lipid droplets, the livers of Lrat-/- mice upon histologic analysis appear normal and show no histological signs of liver fibrosis, Lra-/- mice absorb dietary retinol primarily as free retinol in chylomicrons, phenotype, overview	674487	
2.3.1.135	additional information	screening for and analysis of naturally occurring mutants, low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa, overview	676112	
2.3.1.135	additional information	siRNA knockdown of LRAT and RPE65 expression	715720	
2.3.1.135	P173L	mutation caused night blindness in a patient. The enzymatic activity of truncated mutant P173L LRAT is 6.3fold lower compared to that of truncated wild-type (P173)	755984	
2.3.1.135	S175R	naturally occurring missense mutation, causing recessive earlyonset severe retinal dystrophy, the mutant enzyme shows highly reduced activity	676112	
2.3.1.135	S175R	site-directed mutagenesis, the mutation in the truncated LRAT results in an inactive enzyme. The S175R mutation has no effect on the membrane binding properties of tLRAT, the global secondary structure of tLRAT remains almost unchanged with the S175R mutation. The loss of enzymatic activity associated with the S175R mutant is related to loss of an essential nucleophile near the active site, or alternatively to steric obstruction of the active site that impedes substrate binding	719418	
2.3.1.135	Y118F	site-directed mutagenesis, activity similar to the truncated wild-type enzyme	658075	
2.3.1.135	Y154F	site-directed mutagenesis, inactive mutant	658075	
2.3.1.135	Y167F	site-directed mutagenesis, activity similar to the truncated wild-type enzyme	658075	
2.3.1.135	Y64F	site-directed mutagenesis, highly increased activity compared to the truncated wild-type enzyme	658075