BRENDA - Enzyme Database show
show all sequences of 2.3.1.135

Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa

Sweeney, M.O.; McGee, T.L.; Berson, E.L.; Dryja, T.P.; Mol. Vis. 13, 588-593 (2007)

Data extracted from this reference:

Application
Application
Commentary
Organism
medicine
LRAT mutations are likely a rare cause of Leber congenital amaurosis among patients from North America
Homo sapiens
Engineering
Amino acid exchange
Commentary
Organism
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
Homo sapiens
S175R
naturally occurring missense mutation, causing recessive earlyonset severe retinal dystrophy, the mutant enzyme shows highly reduced activity
Homo sapiens
Natural Substrates/ Products (Substrates)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
lecithin + retinol-[cellular retinol-binding protein]
Homo sapiens
-
2-acylglycerophosphocholine + retinyl ester-[cellular retinol-binding protein]
-
-
?
additional information
Homo sapiens
low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
?
-
-
-
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
-
-
-
Source Tissue
Source Tissue
Commentary
Organism
Textmining
eye
-
Homo sapiens
-
liver
-
Homo sapiens
-
retinal pigment epithelium
-
Homo sapiens
-
Substrates and Products (Substrate)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
lecithin + retinol-[cellular retinol-binding protein]
-
676112
Homo sapiens
2-acylglycerophosphocholine + retinyl ester-[cellular retinol-binding protein]
-
-
-
?
additional information
low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
676112
Homo sapiens
?
-
-
-
-
Application (protein specific)
Application
Commentary
Organism
medicine
LRAT mutations are likely a rare cause of Leber congenital amaurosis among patients from North America
Homo sapiens
Engineering (protein specific)
Amino acid exchange
Commentary
Organism
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
Homo sapiens
S175R
naturally occurring missense mutation, causing recessive earlyonset severe retinal dystrophy, the mutant enzyme shows highly reduced activity
Homo sapiens
Natural Substrates/ Products (Substrates) (protein specific)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
lecithin + retinol-[cellular retinol-binding protein]
Homo sapiens
-
2-acylglycerophosphocholine + retinyl ester-[cellular retinol-binding protein]
-
-
?
additional information
Homo sapiens
low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
?
-
-
-
Source Tissue (protein specific)
Source Tissue
Commentary
Organism
Textmining
eye
-
Homo sapiens
-
liver
-
Homo sapiens
-
retinal pigment epithelium
-
Homo sapiens
-
Substrates and Products (Substrate) (protein specific)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
lecithin + retinol-[cellular retinol-binding protein]
-
676112
Homo sapiens
2-acylglycerophosphocholine + retinyl ester-[cellular retinol-binding protein]
-
-
-
?
additional information
low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
676112
Homo sapiens
?
-
-
-
-
Other publictions for EC 2.3.1.135
No.
1st author
Pub Med
title
organims
journal
volume
pages
year
Activating Compound
Application
Cloned(Commentary)
Crystallization (Commentary)
Engineering
General Stability
Inhibitors
KM Value [mM]
Localization
Metals/Ions
Molecular Weight [Da]
Natural Substrates/ Products (Substrates)
Organic Solvent Stability
Organism
Oxidation Stability
Posttranslational Modification
Purification (Commentary)
Reaction
Renatured (Commentary)
Source Tissue
Specific Activity [micromol/min/mg]
Storage Stability
Substrates and Products (Substrate)
Subunits
Temperature Optimum [°C]
Temperature Range [°C]
Temperature Stability [°C]
Turnover Number [1/s]
pH Optimum
pH Range
pH Stability
Cofactor
Ki Value [mM]
pI Value
IC50 Value
Activating Compound (protein specific)
Application (protein specific)
Cloned(Commentary) (protein specific)
Cofactor (protein specific)
Crystallization (Commentary) (protein specific)
Engineering (protein specific)
General Stability (protein specific)
IC50 Value (protein specific)
Inhibitors (protein specific)
Ki Value [mM] (protein specific)
KM Value [mM] (protein specific)
Localization (protein specific)
Metals/Ions (protein specific)
Molecular Weight [Da] (protein specific)
Natural Substrates/ Products (Substrates) (protein specific)
Organic Solvent Stability (protein specific)
Oxidation Stability (protein specific)
Posttranslational Modification (protein specific)
Purification (Commentary) (protein specific)
Renatured (Commentary) (protein specific)
Source Tissue (protein specific)
Specific Activity [micromol/min/mg] (protein specific)
Storage Stability (protein specific)
Substrates and Products (Substrate) (protein specific)
Subunits (protein specific)
Temperature Optimum [°C] (protein specific)
Temperature Range [°C] (protein specific)
Temperature Stability [°C] (protein specific)
Turnover Number [1/s] (protein specific)
pH Optimum (protein specific)
pH Range (protein specific)
pH Stability (protein specific)
pI Value (protein specific)
Expression
General Information
General Information (protein specific)
Expression (protein specific)
KCat/KM [mM/s]
KCat/KM [mM/s] (protein specific)
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Golczak
LRAT-specific domain facilitat ...
Mus musculus
Nat. Chem. Biol.
11
26-32
2015
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736951
Prukova
Transgenic reporter mice with ...
Mus musculus
Physiol. Res.
64
247-254
2015
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735707
Horchani
Enzymatic activity of lecithin ...
Homo sapiens
Biochim. Biophys. Acta
1844
1128-1836
2014
1
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1
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1
1
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1
1
736068
Hassel
Lecithin retinol acyltransfera ...
Homo sapiens
Exp. Dermatol.
22
757-759
2013
-
1
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715720
Amann
Vitamin A metabolism in benign ...
Homo sapiens
J. Cell. Physiol.
227
718-728
2012
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1
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1
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13
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13
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2
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1
3
3
1
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718992
Jiang
Reorganization of cellular ret ...
Homo sapiens
Biochim. Biophys. Acta
1820
859-869
2012
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1
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3
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1
1
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720030
Amengual
Lecithin:retinol acyltransfera ...
Mus musculus, Mus musculus C57/BL6J / 129 Sv
J. Biol. Chem.
287
24216-24227
2012
-
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1
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4
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2
2
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720353
Bussieres
Binding of a truncated form of ...
Homo sapiens
Langmuir
28
3516-3523
2012
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1
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1
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1
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1
1
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5
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1
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5
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1
1
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1
1
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719418
Bussieres
Lecithin retinol acyltransfera ...
Homo sapiens
Exp. Eye Res.
93
778-781
2011
-
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1
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2
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1
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2
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720839
Kida
Interleukin-1 as an injury sig ...
Rattus norvegicus
PLoS ONE
6
e26644
2011
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1
1
1
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719417
Ruiz
Focus on molecules: lecithin r ...
Homo sapiens, Mus musculus
Exp. Eye Res.
90
186-187
2010
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1
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2
2
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1
4
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2
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6
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1
4
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6
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1
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6
6
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687128
Cai
Retinoic acid receptors and GA ...
Homo sapiens
Int. J. Biochem. Cell Biol.
41
546-553
2009
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688779
Nagatsuma
Lecithin: retinol acyltransfer ...
Homo sapiens, Mus musculus
Liver Int.
29
47-54
2009
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702997
Tang
Overexpression of lecithin:ret ...
Homo sapiens
Cancer Biol. Ther.
8
1212-1213
2009
-
1
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1
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685033
Liu
Homeostasis of retinol in leci ...
Mus musculus
Biochem. Pharmacol.
75
2316-2324
2008
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685367
Bussieres
Secondary structure of a trunc ...
Escherichia coli BL21
Biochim. Biophys. Acta
1778
1324-1334
2008
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687788
Kim
Retinyl ester formation by lec ...
Mus musculus
J. Biol. Chem.
283
5611-5621
2008
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674832
Moise
Topology and membrane associat ...
Mus musculus
J. Biol. Chem.
282
2081-2090
2007
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674833
Jin
Role of LRAT on the retinoid i ...
Bos taurus, Mus musculus 129S2/Sv, Mus musculus
J. Biol. Chem.
282
20915-20924
2007
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676112
Sweeney
Low prevalence of lecithin ret ...
Homo sapiens
Mol. Vis.
13
588-593
2007
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1
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672075
Muniz
11-cis-Acyl-CoA:retinol O-acyl ...
Gallus gallus
Biochemistry
45
12265-12273
2006
1
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1
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674069
Sheren-Manoff
Reduced lecithin:retinol acylt ...
Homo sapiens
Int. J. Oncol.
29
1193-1199
2006
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658661
Trevino
Lecithin:retinol acyltransfera ...
Homo sapiens, no activity in Gallus gallus
Exp. Eye Res.
80
897-900
2005
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1
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1
1
1
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1
1
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1
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1
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1
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1
1
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1
1
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1
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3
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
658662
Kaschula
Acyl CoA:retinol acyltransfera ...
Bos taurus
Exp. Eye Res.
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111-121
2005
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-
1
-
-
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3
3
2
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1
3
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1
-
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1
1
-
2
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3
1
1
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-
-
1
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1
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3
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3
2
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1
3
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1
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2
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3
1
1
-
-
-
1
-
-
-
-
-
-
-
-
-
674449
Piantedosi
Cellular retinol-binding prote ...
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J. Biol. Chem.
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24286-24292
2005
1
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4
-
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4
-
1
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-
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1
-
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1
-
-
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-
1
-
-
1
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2
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-
-
4
-
-
4
-
1
-
-
-
1
-
-
-
-
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-
-
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674487
O'Byrne
Retinoid absorption and storag ...
Mus musculus
J. Biol. Chem.
280
35647-35657
2005
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-
-
-
1
-
-
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1
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1
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5
1
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1
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1
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1
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1
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5
1
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
674517
Golczak
Lecithin:retinol acyltransfera ...
Bos taurus, Mus musculus
J. Biol. Chem.
280
42263-42273
2005
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2
-
-
-
2
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6
-
2
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-
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-
-
4
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10
-
2
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2
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2
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2
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6
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4
-
-
10
-
2
-
-
-
2
-
-
-
-
-
-
-
-
-
658075
Xue
Roles of cysteine 161 and tyro ...
Homo sapiens
Biochemistry
43
6120-6126
2004
-
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1
-
15
-
-
-
-
-
-
1
-
1
-
-
1
1
-
-
1
-
3
-
1
-
-
-
1
1
1
-
-
-
-
-
-
1
-
-
15
-
-
-
-
-
-
-
-
1
-
-
-
1
-
-
1
-
3
-
1
-
-
-
1
1
1
-
-
-
-
-
-
-
658821
Zolfaghari
Cloning, gene organization and ...
Homo sapiens
Gene
341
181-188
2004
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1
-
-
-
-
-
-
-
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1
-
1
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5
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1
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1
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1
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5
-
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1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
659309
Batten
Lecithin-retinol acyltransfera ...
Mus musculus
J. Biol. Chem.
279
10422-10432
2004
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1
1
-
1
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-
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1
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4
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4
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2
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1
1
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-
1
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1
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4
-
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2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
657964
Jahng
Lecithin retinol acyltransfera ...
Homo sapiens
Biochemistry
42
12805-12812
2003
-
-
-
-
-
-
-
-
-
-
-
2
-
1
-
-
-
1
-
1
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4
-
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2
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1
-
-
4
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
658001
Bok
Purification and characterizat ...
Homo sapiens
Biochemistry
42
6090-6098
2003
-
-
1
-
-
-
-
2
2
-
3
-
-
2
-
-
1
-
-
2
-
-
3
3
-
-
-
-
-
-
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-
-
-
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-
1
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-
-
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2
2
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3
-
-
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-
1
-
2
-
-
3
3
-
-
-
-
-
-
-
-
-
-
-
-
-
-
658432
Hoegberg
2,3,7,8-Tetrachlorodibenzo-p-d ...
Rattus norvegicus
Chem. Biol. Interact.
145
1-16
2003
1
-
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-
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-
-
-
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2
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4
-
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-
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3
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3
-
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-
1
-
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-
-
-
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2
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-
-
3
-
-
3
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
658462
Zhan
Differential expression of the ...
Homo sapiens
Clin. Cancer Res.
9
4897-4905
2003
-
1
-
-
-
-
-
-
-
-
-
1
-
1
-
-
-
-
-
8
-
-
2
-
-
-
-
-
-
-
-
-
-
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-
-
1
-
-
-
-
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-
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1
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-
-
8
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
638622
Guo
Retinol metabolism and lecithi ...
Homo sapiens
Cancer Res.
62
1654-1661
2002
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
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-
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4
-
-
1
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-
-
-
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-
-
-
-
-
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-
-
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-
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4
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
638623
Jahng
Lecithin retinol acyltransfera ...
Bos taurus
Biochemistry
41
6311-6319
2002
-
-
-
-
-
-
-
2
-
-
-
1
-
1
-
-
1
-
-
-
-
-
1
3
-
-
-
-
-
-
-
-
-
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-
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-
-
-
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-
-
2
-
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-
1
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1
-
-
-
-
1
3
-
-
-
-
-
-
-
-
-
-
-
-
-
-
638624
Zolfaghari
Cloning and molecular expressi ...
Rattus norvegicus
Biochem. J.
368
621-631
2002
2
-
1
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
1
-
-
1
-
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-
-
-
-
-
-
-
-
-
-
2
-
1
-
-
-
-
-
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-
-
-
-
-
-
-
-
-
-
-
1
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
638625
Rando
Membrane-bound lecithin-retino ...
Bos taurus, Homo sapiens, Rattus norvegicus
Biochem. Biophys. Res. Commun.
292
1243-1250
2002
-
-
-
-
-
-
3
-
3
-
-
3
-
3
-
-
1
-
-
-
-
-
15
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
3
-
-
3
-
-
3
-
-
-
1
-
-
-
-
15
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
638621
Mondal
Two histidine residues are ess ...
Bos taurus, Homo sapiens
FEBS Lett.
489
14-18
2001
-
-
1
-
-
-
-
5
-
-
-
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-
2
-
-
1
-
-
-
-
1
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
5
-
-
-
-
-
-
-
1
-
-
-
1
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
638618
Mondal
Lecithin retinol acyltransfera ...
Homo sapiens
Biochemistry
39
5215-5220
2000
-
-
1
-
-
-
1
5
-
-
-
-
-
2
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
1
-
5
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
638619
Zolfaghari
Lecithin:retinol acyltransfera ...
Mus musculus, Rattus norvegicus
J. Lipid Res.
41
2024-2034
2000
3
-
2
-
-
-
-
-
-
-
-
2
-
2
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-
-
-
-
8
-
-
4
2
-
-
-
-
-
-
-
-
-
-
-
3
-
2
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
8
-
-
4
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
638620
Ruiz
Molecular characterization of ...
Bos taurus, Homo sapiens
Methods Enzymol.
316
400-413
2000
-
-
1
-
-
-
-
-
-
-
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2
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8
-
-
2
2
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-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
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-
-
-
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-
-
-
-
-
-
-
8
-
-
2
2
-
-
-
-
-
-
-
-
-
-
-
-
-
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638617
Ruiz
Molecular and biochemical char ...
Bos taurus, Homo sapiens
J. Biol. Chem.
274
3834-3841
1999
-
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1
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-
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2
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1
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5
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7
2
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-
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-
-
-
-
-
1
-
-
-
-
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2
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-
-
-
-
2
-
-
-
1
-
5
-
-
7
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
638616
Matsuura
Lecithin:retinol acyltransfera ...
Rattus norvegicus
J. Nutr.
127
218-224
1997
3
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-
-
-
-
-
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1
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-
-
1
7
-
1
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-
-
-
-
-
-
-
-
-
-
3
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
7
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
638611
Shi
Kinetic mechanism of lecithin ...
Bos taurus
Biochemistry
32
1257-1263
1993
-
-
-
-
-
-
3
2
-
-
-
1
-
1
-
-
1
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-
1
-
1
3
-
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-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
3
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2
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-
-
1
-
-
-
1
-
1
-
1
3
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
638614
Matsuura
Regulation of hepatic lecithin ...
Rattus norvegicus
Arch. Biochem. Biophys.
301
221-227
1993
3
-
-
-
-
-
-
-
-
-
-
-
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2
-
-
-
-
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3
5
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1
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-
-
-
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-
-
-
3
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-
-
-
-
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-
-
-
-
-
-
-
-
-
-
3
5
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1
-
-
-
-
-
-
-
-
-
-
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-
-
-
-
638615
Saari
-
Retinol esterification in bovi ...
Bos taurus
Biochem. J.
291
697-700
1993
-
-
-
-
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1
2
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1
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2
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2
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1
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2
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-
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-
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638612
Herr
Differential interaction of le ...
Rattus norvegicus
Biochemistry
31
6748-6755
1992
-
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-
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-
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2
6
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7
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1
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6
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7
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1
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487491
Saari
Acyl-CoA:retinol acyltransfera ...
Bos taurus, Rattus norvegicus
Methods Enzymol.
190
156-163
1990
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4
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5
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4
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5
4
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5
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2
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1
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638608
Saari
Lecithin:retinol acyltransfera ...
Bos taurus
J. Biol. Chem.
264
8636-8640
1989
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6
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1
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6
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638609
MacDonald
Evidence for a lecithin-retino ...
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263
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3
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10
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3
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3
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10
-
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638613
MacDonald
A lecithin:retinol acyltransfe ...
Homo sapiens, Rattus norvegicus
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156
157-163
1988
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8
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2
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2
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8
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2
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