RDH5

RDH5
Identifiers
Aliases	RDH5 , 9cRDH, HSD17B9, RDH1, SDR9C5, retinol dehydrogenase 5
External IDs	OMIM: 601617; MGI: 1201412; HomoloGene: 2179; GeneCards: RDH5; OMA:RDH5 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q13.2 Start 55,720,367 bp [1] End 55,724,705 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10 D3|10 77.19 cM Start 128,749,462 bp [2] End 128,758,757 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in subcutaneous adipose tissue right lobe of liver mucosa of transverse colon right auricle of heart duodenum muscle layer of sigmoid colon left coronary artery left ventricle lactiferous gland muscle of thigh Top expressed in choroid plexus of fourth ventricle retinal pigment epithelium Epithelium of choroid plexus right kidney lateral ventricle choroid plexus of lateral ventricle dentate gyrus of hippocampal formation granule cell proximal tubule granulocyte choroid More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity NAD-retinol dehydrogenase activity protein homodimerization activity androsterone dehydrogenase activity androstan-3-alpha,17-beta-diol dehydrogenase activity Cellular component cell body endoplasmic reticulum lumen endoplasmic reticulum membrane endoplasmic reticulum membrane integral component of membrane Biological process retinol metabolic process visual perception retinoid metabolic process response to stimulus steroid metabolic process lipid metabolism Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5959 19682 Ensembl ENSG00000135437 ENSMUSG00000025350 UniProt Q92781 O55240 RefSeq (mRNA) NM_002905 NM_001199771 NM_134006 NM_001358527 RefSeq (protein) NP_001186700 NP_002896 NP_598767 NP_001345456 Location (UCSC) Chr 12: 55.72 – 55.72 Mb Chr 10: 128.75 – 128.76 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

11-cis retinol dehydrogenase is an enzyme that in humans is encoded by the RDH5 gene. ^{[5] [6] [7] [8]}

References

1. GRCh38: Ensembl release 89: ENSG00000135437 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025350 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Mertz JR, Shang E, Piantedosi R, Wei S, Wolgemuth DJ, Blaner WS (Jun 1997). "Identification and characterization of a stereospecific human enzyme that catalyzes 9-cis-retinol oxidation. A possible role in 9-cis-retinoic acid formation". J Biol Chem. 272 (18): 11744–9. doi: 10.1074/jbc.272.18.11744 . PMID   9115228.
6. Simon A, Lagercrantz J, Bajalica-Lagercrantz S, Eriksson U (Feb 1997). "Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene". Genomics. 36 (3): 424–30. doi:10.1006/geno.1996.0487. PMID   8884265.
7. Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (Feb 2009). "The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative". Chem Biol Interact. 178 (1–3): 94–8. Bibcode:2009CBI...178...94P. doi:10.1016/j.cbi.2008.10.040. PMC   2896744 . PMID   19027726.
8. "Entrez Gene: RDH5 retinol dehydrogenase 5 (11-cis/9-cis)".

Further reading

• Simon A, Hellman U, Wernstedt C, Eriksson U (1995). "The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases". J. Biol. Chem. 270 (3): 1107–12. doi: 10.1074/jbc.270.3.1107 . PMID   7836368.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Wang J, Chai X, Eriksson U, Napoli JL (1999). "Activity of human 11-cis-retinol dehydrogenase (Rdh5) with steroids and retinoids and expression of its mRNA in extra-ocular human tissue". Biochem. J. 338 (Pt 1): 23–7. doi:10.1042/0264-6021:3380023. PMC   1220019 . PMID   9931293.
• Yamamoto H, Simon A, Eriksson U, et al. (1999). "Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus". Nat. Genet. 22 (2): 188–91. doi:10.1038/9707. PMID   10369264. S2CID   566998.
• Gonzalez-Fernandez F, Kurz D, Bao Y, et al. (2000). "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus". Mol. Vis. 5: 41. PMID   10617778.
• Nakamura M, Hotta Y, Tanikawa A, et al. (2000). "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene". Invest. Ophthalmol. Vis. Sci. 41 (12): 3925–32. PMID   11053295.
• Kuroiwa S, Kikuchi T, Yoshimura N (2000). "A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus". Am. J. Ophthalmol. 130 (5): 672–5. doi:10.1016/S0002-9394(00)00765-0. PMID   11078852.
• Chen P, Lee TD, Fong HK (2001). "Interaction of 11-cis-retinol dehydrogenase with the chromophore of retinal g protein-coupled receptor opsin". J. Biol. Chem. 276 (24): 21098–104. doi: 10.1074/jbc.M010441200 . PMID   11274198.
• Driessen CA, Janssen BP, Winkens HJ, et al. (2001). "Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus". Ophthalmology. 108 (8): 1479–84. doi:10.1016/S0161-6420(01)00640-6. PMID   11470705.
• Nakamura M, Miyake Y (2002). "Macular dystrophy in a 9-year-old boy with fundus albipunctatus". Am. J. Ophthalmol. 133 (2): 278–80. doi:10.1016/S0002-9394(01)01304-6. PMID   11812441.
• Haeseleer F, Jang GF, Imanishi Y, et al. (2003). "Dual-substrate Specificity Short Chain Retinol Dehydrogenases from the Vertebrate Retina". J. Biol. Chem. 277 (47): 45537–46. doi: 10.1074/jbc.M208882200 . PMC   1435693 . PMID   12226107.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Wu Z, Yang Y, Shaw N, et al. (2003). "Mapping the ligand binding pocket in the cellular retinaldehyde binding protein". J. Biol. Chem. 278 (14): 12390–6. doi: 10.1074/jbc.M212775200 . PMID   12536149.
• Hotta K, Nakamura M, Kondo M, et al. (2003). "Macular dystrophy in a Japanese family with fundus albipunctatus". Am. J. Ophthalmol. 135 (6): 917–9. doi:10.1016/S0002-9394(02)02290-0. PMID   12788147.
• Sekiya K, Nakazawa M, Ohguro H, et al. (2003). "Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene". Arch. Ophthalmol. 121 (7): 1057–9. doi:10.1001/archopht.121.7.1057-b. PMID   12860821.
• Nakamura M, Skalet J, Miyake Y (2003). "RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus". Documenta Ophthalmologica. Advances in Ophthalmology. 107 (1): 3–11. doi:10.1023/A:1024498826904. PMID   12906118. S2CID   12265365.
• Yamamoto H, Yakushijin K, Kusuhara S, et al. (2003). "A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots". Am. J. Ophthalmol. 136 (3): 572–4. doi:10.1016/S0002-9394(03)00332-5. PMID   12967826.
• Sato M, Oshika T, Kaji Y, Nose H (2004). "A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa". Ophthalmic Res. 36 (1): 43–50. doi:10.1159/000076109. PMID   15007239. S2CID   34078786.