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Literature summary for 1.14.14.79 extracted from

  • Nakano, M.; Kelly, E.J.; Wiek, C.; Hanenberg, H.; Rettie, A.E.
    CYP4V2 in Biettis crystalline dystrophy: ocular localization, metabolism of omega-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant (2012), Mol. Pharmacol., 82, 679-686.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 1.14.14.79

Cloned(Commentary)

Cloned (Comment) Organism
expression in insect cells Homo sapiens

Protein Variants

Protein Variants Comment 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 Comment Organism GeneOntology No. Textmining
endoplasmic reticulum
-
 Homo sapiens 5783
-
microsome
-
 Homo sapiens
-
-

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment 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 Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
docosahexaenoate + NADPH + H+ + O2 Homo sapiens
-
 22-hydroxydocosahexaenoate + NADP+ + H2O
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q6ZWL3
-
-

Purification (Commentary)

Purification (Comment) Organism
isolated through nickel affinity and hydroxyapatite chromatography Homo sapiens

Source Tissue

Source Tissue Comment 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 Comment Substrates Organism Products Comment (Products) Rev. Reac.
(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 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
-
 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 Homo sapiens 22-hydroxydocosahexaenoate + NADP+ + H2O
-
 ?

Subunits

Subunits Comment Organism
? x * 60000, SDS-PAGE Homo sapiens
? x * 62163, liquid chromatography-mass spectrometry analysis Homo sapiens

Synonyms

Synonyms Comment Organism
CYP4F3B
-
 Homo sapiens
CYP4V2
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
cytochrome P-450 CYP4V2 displays a typical reduced carbon monoxide-bound P450 spectrum Homo sapiens

General Information

General Information Comment Organism
malfunction defects in the enzyme are associated with Bietti crystalline corneoretinal dystrophy Homo sapiens