LMPD Database

LMP002197

UniProt Annotations

Entry Information
Gene Nameretinol dehydrogenase 5 (11-cis/9-cis)
Protein EntryRDH1_HUMAN
UniProt IDQ92781
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiespH dependence: Optimum pH is 7.5-8.0 for 9-cis retinol dehydrogenase activity. ;
Catalytic Activity11-cis-retinol-[retinal-binding-protein] + NAD(+) = 11-cis-retinal-[retinol-binding-protein] + NADH.
DiseaseRetinitis punctata albescens (RPA) [MIM
Enzyme RegulationInhibited by 9-cis-, 13-cis- and all-trans- retinoic acids, with the most potent inhibitor being 13-cis- retinoic acid. Weakly inhibited by oleic acid.
FunctionStereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all- trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP. {ECO
PathwayCofactor metabolism; retinol metabolism.
SimilarityBelongs to the short-chain dehydrogenases/reductases (SDR) family.
Subcellular LocationMembrane ; Peripheral membrane protein . Endoplasmic reticulum lumen .
SubunitHomodimer.
Tissue SpecificityAbundant in the retinal pigment epithelium. Expressed at high levels in mammary tissue, kidney and testis, and at lower levels in liver, heart, adrenal gland, lung, pancreas and skeletal muscle.
Web ResourceName=Mutations of the RDH5 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rdh5mut.htm";