LMP001508 UniProt Annotations
Gene Name retinol dehydrogenase 5 Protein Entry O55240_MOUSE UniProt ID O55240 Species Mouse
Comment type Description Catalytic Activity 11-cis-retinol-[retinal-binding-protein] + NAD(+) = 11-cis-retinal-[retinol-binding-protein] + NADH. Developmental Stage Abundantly expressed during embryonic development, especially in the developing central nervous system and sensory organs, cranial and spinal ganglia and endoderm of foregut and hindgut. At E10, detected along the entire neural tube, the mid- and hindbrain floor, the central canal of the brain vesicles, spinal cord, lung mesenchyme, the trabecular layer of the heart ventricles, endoderm and endodermally-derived structures such as tracheal epithelium and liver. At E11, expressed in the brain vesicles, along the spinal cord, myotome, migrating muscle progenitor cells in the body wall, cells of the genital ridge, spinal ganglion, liver, cerebellar primordium, basal cells of the neuroepithelium of the mesenchephalic flexure, collections of cells in the pons, Rathke's pouch, spinal and cranial ganglia and the floor plate, retina, lens, optic stalks and the neural crest- derived mesenchyme in the anterior eye segment. During eye development, expression restricted to the retinal pigment epithelium of the posterior hemisphere at E18, with expression levels increasing postnatally to P16. Disruption Phenotype Mutant mice develop normally and are fertile. No abnormalities can be found in the retinal structure, rhodopsin content and fundus appearance of their eyes. Mice display a mild visual phenotype of impaired dark adaptation and accumulation of 11-cis- and 13-cis-retinols and 11-cis- and 13- cis-retinyl esters in the eyes. Enzyme Regulation Inhibited 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. Function Stereospecific 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:0000269|PubMed:10588954, ECO:0000269|PubMed:9539749}. Pathway Cofactor metabolism; retinol metabolism. Similarity Belongs to the short-chain dehydrogenases/reductases (SDR) family. Subcellular Location Membrane ; Peripheral membrane protein . Endoplasmic reticulum lumen . Tissue Specificity Expressed in eye, liver, kidney, brain, intestine, placenta, epididymus and submaxillary gland. In eye, strongly expressed in the retinal pigment epithelium, with lower expression levels detected in the inner segment of the photoreceptor cells and in the outer plexiform layer. In kidney, strong expression detected in the distal tubules and the transitional epithelium in the renal pelvis, with weaker expression detected in the epithelium of the outer stripe of the outer zone of the medulla. In liver, detected in hepatocytes in the centrilobular area. In lung, present in Clara cells in the epithelium of the bronchiole, in parenchyma and in cartilage surrounding the secondary bronchi. In skin, expressed in epidermis, hair follicles and mast cells in the dermis. Expressed in heart (PubMed:10588954 and PubMed:10739682). Not detected in heart (PubMed:9539749). Not detected in lung, spleen, skeletal muscle and testis. {ECO:0000269|PubMed:10588954, ECO:0000269|PubMed:10739682, ECO:0000269|PubMed:9539749, ECO:0000269|PubMed:9654122}.
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