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Literature summary extracted from

  • Liden, M.; Romert, A.; Tryggvason, K.; Persson, B.; Eriksson, U.
    Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus (2001), J. Biol. Chem., 276, 49251-49257.
    View publication on PubMed

Application

EC Number Application Comment Organism
1.1.1.315 medicine mutations in gene RDH5 are associated with fundus albipunctatus, an autosomal recessive eye disease. Characterization of 11 mutants shows that all RDH5 mutants show decreased protein stability and subcellular mislocalization and, in most cases, loss of enzymatic activity in vitro and in vivo. The mutated enzymes, in a transdominant-negative manner, influence the in vivo enzymatic properties of functional variants of the enzyme. Under certain conditions, nonfunctional alleles act in a dominant-negative way on functional but relatively unstable mutated alleles. In heterozygous individuals carrying one wild-type allele, the disease is recessive, probably due to the stability of the wild-type enzyme Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.1.1.315 expression in Cos-1 cells Homo sapiens

Crystallization (Commentary)

EC Number Crystallization (Comment) Organism
1.1.1.315 modeling of the amino acid sequence of human RDH5 into the known three-dimensional structure of 17-hydroxysteroid dehydrogenase, Protein Data Bank code 1bhs Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.1.1.315 A294P naturally occuring mutation, 52% of wild-type activity in cell-reporter assay, active in vitro Homo sapiens
1.1.1.315 D128N  naturally occuring mutation, less than 1% of wild-type activity in cell-reporter assay Homo sapiens
1.1.1.315 G238W naturally occuring mutation, 4% of wild-type activity in cell-reporter assay, no activity in vitro Homo sapiens
1.1.1.315 G35S naturally occuring mutation, 1.7% of wild-type activity in cell-reporter assay Homo sapiens
1.1.1.315 L105I naturally occuring mutation, 1% of wild-type activity in cell-reporter assay Homo sapiens
1.1.1.315 L310EV naturally occuring mutation, 4% of wild-type activity in cell-reporter assay, no activity in vitro Homo sapiens
1.1.1.315 R157W naturally occuring mutation, less than 1% of wild-type activity in cell-reporter assay Homo sapiens
1.1.1.315 R280H naturally occuring mutation, 4% of wild-type activity in cell-reporter assay, no activity in vitro Homo sapiens
1.1.1.315 S73F naturally occuring mutation, 4% of wild-type activity in cell-reporter assay, no activity in vitro Homo sapiens
1.1.1.315 V212 naturally occuring mutation with 4bp deletion, frame shift mutant with premature stop codon at position 246 Homo sapiens
1.1.1.315 V264G naturally occuring mutation, 4% of wild-type activity in cell-reporter assay Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.1.1.315 endoplasmic reticulum wild-type. All tested RDH5 mutants, including A294P, show an abnormal perinuclear localization in transfected cells and induce a redistribution of the ER marker calnexin Homo sapiens 5783
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Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
1.1.1.315 32000
-
2 * 32000, SDS-PAGE Homo sapiens
1.1.1.315 60000
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chemical cross-linking Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.1.1.315 Homo sapiens Q92781
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-

Subunits

EC Number Subunits Comment Organism
1.1.1.315 dimer 2 * 32000, SDS-PAGE Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
1.1.1.315 RDH5
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Homo sapiens