Literature summary for 1.1.1.315 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.

Search for more literature for 1.1.1.315

Application

Application	Comment	Organism
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)

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

Crystallization (Commentary)

Crystallization (Comment)	Organism
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

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

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
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	-

Molecular Weight [Da]

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q92781	-	-

Subunits

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

Synonyms

Synonyms	Comment	Organism
RDH5	-	Homo sapiens

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Release 2023.1 (January 2023)