Log in / Register

MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MGP002603

UniProt Annotations

Entry Information

Gene Name	retinol dehydrogenase 5 (11-cis/9-cis)
Protein Entry	RDH1_HUMAN
UniProt ID	Q92781
Species	Human

Comments

Comment type	Description
Biophysicochemical Properties	pH dependence: Optimum pH is 7.5-8.0 for 9-cis retinol dehydrogenase activity. {ECO:0000269\|PubMed:9115228};
Catalytic Activity	11-cis-retinol-[retinal-binding-protein] + NAD(+) = 11-cis-retinal-[retinol-binding-protein] + NADH. {ECO:0000269\|PubMed:10588954, ECO:0000269\|PubMed:9115228}.
Disease	Retinitis punctata albescens (RPA) [MIM:136880]: Rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. {ECO:0000269\|PubMed:10369264, ECO:0000269\|PubMed:10617778, ECO:0000269\|PubMed:11053295, ECO:0000269\|PubMed:11078852, ECO:0000269\|PubMed:11470705, ECO:0000269\|PubMed:12788147, ECO:0000269\|PubMed:12967826}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. {ECO:0000269\|PubMed:10588954}.
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:9115228}.
Pathway	Cofactor metabolism; retinol metabolism. {ECO:0000269\|PubMed:9115228}.
Similarity	Belongs to the short-chain dehydrogenases/reductases (SDR) family. {ECO:0000305}.
Subcellular Location	Membrane {ECO:0000269\|PubMed:11675386}; Peripheral membrane protein {ECO:0000269\|PubMed:11675386}. Endoplasmic reticulum lumen {ECO:0000269\|PubMed:11675386}.
Subunit	Homodimer. {ECO:0000269\|PubMed:11675386}.
Tissue Specificity	Abundant 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. {ECO:0000269\|PubMed:9115228}.
Web Resource	Name=Mutations of the RDH5 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rdh5mut.htm";