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show all sequences of 1.14.14.79

CYP4V2 in Bietti’s crystalline dystrophy: ocular localization, metabolism of omega-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant

Nakano, M.; Kelly, E.J.; Wiek, C.; Hanenberg, H.; Rettie, A.E.; Mol. Pharmacol. 82, 679-686 (2012)

Data extracted from this reference:

Cloned(Commentary)
Commentary
Organism
expression in insect cells
Homo sapiens
Engineering
Amino acid exchange
Commentary
Organism
H331P
the naturally occuring mutant protein CYP4V2 protein is expressed at high levels in ocular target tissues of patients with Bietti’s crystalline corneoretinal dystrophy. The enzyme is metabolically active toward polyunsaturated fatty acids. The functional deficit among patients with Bietti’s crystalline corneoretinal dystrophy who carry the H331P variant is most likely a consequence of the instability of the mutant protein
Homo sapiens
Localization
Localization
Commentary
Organism
GeneOntology No.
Textmining
endoplasmic reticulum
-
Homo sapiens
5783
-
microsome
-
Homo sapiens
-
-
Molecular Weight [Da]
Molecular Weight [Da]
Molecular Weight Maximum [Da]
Commentary
Organism
60000
-
x * 60000, SDS-PAGE
Homo sapiens
62163
-
x * 62163, liquid chromatography-mass spectrometry analysis
Homo sapiens
Natural Substrates/ Products (Substrates)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
docosahexaenoate + NADPH + H+ + O2
Homo sapiens
-
22-hydroxydocosahexaenoate + NADP+ + H2O
-
-
?
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
Q6ZWL3
-
-
Purification (Commentary)
Commentary
Organism
isolated through nickel affinity and hydroxyapatite chromatography
Homo sapiens
Source Tissue
Source Tissue
Commentary
Organism
Textmining
adrenal gland
-
Homo sapiens
-
ARPE-19 cell
a human cell line spontaneously generated from normal human retinal pigmented epithelium
Homo sapiens
-
breast
-
Homo sapiens
-
cornea
-
Homo sapiens
-
eye
-
Homo sapiens
-
hepatocyte
-
Homo sapiens
-
hypophysis
endothelial cell
Homo sapiens
-
liver
-
Homo sapiens
-
additional information
negligible amount is found in human kidney. No expression in small intestine
Homo sapiens
-
pancreas
islet cells
Homo sapiens
-
parathyroid gland
-
Homo sapiens
-
prostate gland
-
Homo sapiens
-
retina
-
Homo sapiens
-
testis
-
Homo sapiens
-
uterus
glandular epithelial cells
Homo sapiens
-
Substrates and Products (Substrate)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
(5Z,8Z,11Z,14Z,17Z)-icosa-5,8,11,14,17-pentaenoic acid + [reduced NADPH-hemoprotein reductase] + O2
icosapentaenoate i.e. (5Z,8Z,11Z,14Z,17Z)-icosa-5,8,11,14,17-pentaenoate
728344
Homo sapiens
(5Z,8Z,11Z,14Z,17Z)-20-hydroxyicosa-5,8,11,14,17-pentaenoic acid + [oxidized NADPH-hemoprotein reductase] + H2O
-
-
-
?
docosahexaenoate + NADPH + H+ + O2
-
728344
Homo sapiens
22-hydroxydocosahexaenoate + NADP+ + H2O
-
-
-
?
docosahexaenoate + NADPH + H+ + O2
docosahexaenoate i.e. (4Z,7Z,10Z,13Z,16Z,19Z)-docosa-4,7,10,13,16,19-hexaenoate. The enzyme also produces some 21-hydroxydocosahexaenoate
728344
Homo sapiens
22-hydroxydocosahexaenoate + NADP+ + H2O
-
-
-
?
Subunits
Subunits
Commentary
Organism
?
x * 60000, SDS-PAGE; x * 62163, liquid chromatography-mass spectrometry analysis
Homo sapiens
Cofactor
Cofactor
Commentary
Organism
Structure
cytochrome P-450
CYP4V2 displays a typical reduced carbon monoxide-bound P450 spectrum
Homo sapiens
Cloned(Commentary) (protein specific)
Commentary
Organism
expression in insect cells
Homo sapiens
Cofactor (protein specific)
Cofactor
Commentary
Organism
Structure
cytochrome P-450
CYP4V2 displays a typical reduced carbon monoxide-bound P450 spectrum
Homo sapiens
Engineering (protein specific)
Amino acid exchange
Commentary
Organism
H331P
the naturally occuring mutant protein CYP4V2 protein is expressed at high levels in ocular target tissues of patients with Bietti’s crystalline corneoretinal dystrophy. The enzyme is metabolically active toward polyunsaturated fatty acids. The functional deficit among patients with Bietti’s crystalline corneoretinal dystrophy who carry the H331P variant is most likely a consequence of the instability of the mutant protein
Homo sapiens
Localization (protein specific)
Localization
Commentary
Organism
GeneOntology No.
Textmining
endoplasmic reticulum
-
Homo sapiens
5783
-
microsome
-
Homo sapiens
-
-
Molecular Weight [Da] (protein specific)
Molecular Weight [Da]
Molecular Weight Maximum [Da]
Commentary
Organism
60000
-
x * 60000, SDS-PAGE
Homo sapiens
62163
-
x * 62163, liquid chromatography-mass spectrometry analysis
Homo sapiens
Natural Substrates/ Products (Substrates) (protein specific)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
docosahexaenoate + NADPH + H+ + O2
Homo sapiens
-
22-hydroxydocosahexaenoate + NADP+ + H2O
-
-
?
Purification (Commentary) (protein specific)
Commentary
Organism
isolated through nickel affinity and hydroxyapatite chromatography
Homo sapiens
Source Tissue (protein specific)
Source Tissue
Commentary
Organism
Textmining
adrenal gland
-
Homo sapiens
-
ARPE-19 cell
a human cell line spontaneously generated from normal human retinal pigmented epithelium
Homo sapiens
-
breast
-
Homo sapiens
-
cornea
-
Homo sapiens
-
eye
-
Homo sapiens
-
hepatocyte
-
Homo sapiens
-
hypophysis
endothelial cell
Homo sapiens
-
liver
-
Homo sapiens
-
additional information
negligible amount is found in human kidney. No expression in small intestine
Homo sapiens
-
pancreas
islet cells
Homo sapiens
-
parathyroid gland
-
Homo sapiens
-
prostate gland
-
Homo sapiens
-
retina
-
Homo sapiens
-
testis
-
Homo sapiens
-
uterus
glandular epithelial cells
Homo sapiens
-
Substrates and Products (Substrate) (protein specific)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
(5Z,8Z,11Z,14Z,17Z)-icosa-5,8,11,14,17-pentaenoic acid + [reduced NADPH-hemoprotein reductase] + O2
icosapentaenoate i.e. (5Z,8Z,11Z,14Z,17Z)-icosa-5,8,11,14,17-pentaenoate
728344
Homo sapiens
(5Z,8Z,11Z,14Z,17Z)-20-hydroxyicosa-5,8,11,14,17-pentaenoic acid + [oxidized NADPH-hemoprotein reductase] + H2O
-
-
-
?
docosahexaenoate + NADPH + H+ + O2
-
728344
Homo sapiens
22-hydroxydocosahexaenoate + NADP+ + H2O
-
-
-
?
docosahexaenoate + NADPH + H+ + O2
docosahexaenoate i.e. (4Z,7Z,10Z,13Z,16Z,19Z)-docosa-4,7,10,13,16,19-hexaenoate. The enzyme also produces some 21-hydroxydocosahexaenoate
728344
Homo sapiens
22-hydroxydocosahexaenoate + NADP+ + H2O
-
-
-
?
Subunits (protein specific)
Subunits
Commentary
Organism
?
x * 60000, SDS-PAGE; x * 62163, liquid chromatography-mass spectrometry analysis
Homo sapiens
General Information
General Information
Commentary
Organism
malfunction
defects in the enzyme are associated with Bietti crystalline corneoretinal dystrophy
Homo sapiens
General Information (protein specific)
General Information
Commentary
Organism
malfunction
defects in the enzyme are associated with Bietti crystalline corneoretinal dystrophy
Homo sapiens
Other publictions for EC 1.14.14.79
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)
728344
Nakano
CYP4V2 in Bietti’s crystalli ...
Homo sapiens
Mol. Pharmacol.
82
679-686
2012
-
-
1
-
1
-
-
-
2
-
2
1
-
2
-
-
1
-
-
15
-
-
3
1
-
-
-
-
-
-
-
1
-
-
-
-
-
1
1
-
1
-
-
-
-
-
2
-
2
1
-
-
-
1
-
15
-
-
3
1
-
-
-
-
-
-
-
-
-
1
1
-
-
-
729628
Madec
CYP4F3B expression is associat ...
Homo sapiens
Drug Metab. Dispos.
39
1987-1996
2011
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
2
-
-
1
-
-
-
-
-
-
-
-
-
-
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-
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-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
2
-
-
1
-
-
-
-
-
-
-
-
-
1
-
-
1
-
-
704996
Fer
Cytochromes P450 from family 4 ...
Homo sapiens
J. Lipid Res.
49
2379-2389
2008
-
-
-
-
-
-
3
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
3
-
-
-
-
-
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-
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-
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3
-
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-
-
-
-
-
-
-
-
-
-
-
3
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
730854
Harmon
Oxygenation of omega-3 fatty a ...
Homo sapiens
Prostaglandins Leukot. Essent. Fatty Acids
75
169-177
2006
-
-
-
-
-
-
3
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
3
-
-
-
-
-
-
-
-
-
-
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-
-
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3
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3
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