RDH11

RDH11
Identifiers
Aliases	RDH11 , ARSDR1, CGI82, HCBP12, MDT1, PSDR1, RALR1, SCALD, SDR7C1, RDJCSS, retinol dehydrogenase 11 (all-trans/9-cis/11-cis), retinol dehydrogenase 11
External IDs	OMIM: 607849; MGI: 102581; HomoloGene: 100724; GeneCards: RDH11; OMA:RDH11 - orthologs
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q24.1 Start 67,676,800 bp [1] End 67,695,793 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in retinal pigment epithelium islet of Langerhans Brodmann area 23 kidney tubule pars compacta tibia skin of thigh pars reticulata corpus epididymis vulva n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor NADP-retinol dehydrogenase activity NAD-retinol dehydrogenase activity protein binding aldehyde dehydrogenase (NADP+) activity Cellular component integral component of membrane intracellular anatomical structure endoplasmic reticulum membrane membrane endoplasmic reticulum photoreceptor inner segment Biological process retinoid metabolic process retinol metabolic process retinal metabolic process adaptation of rhodopsin mediated signaling visual perception cellular detoxification of aldehyde Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51109 17252 Ensembl ENSG00000072042 n/a UniProt Q8TC12 Q9QYF1 RefSeq (mRNA) NM_016026 NM_001252650 NM_021557 NM_001362269 NM_001362270 RefSeq (protein) NP_001239579 NP_057110 NP_067532 NP_001349198 NP_001349199 Location (UCSC) Chr 14: 67.68 – 67.7 Mb n/a PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Retinol dehydrogenase 11 is an enzyme that in humans is encoded by the RDH11 gene. ^{[4] [5] [6] [7]}

RHD11, a member of the short-chain dehydrogenase/reductase (SDR) superfamily of oxidoreductases, is expressed at high levels in prostate epithelium, and its expression is regulated by androgens.[supplied by OMIM] ^[7]

Clinical significance

Mutations in RDH11 are associated to retinitis pigmentosa. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000072042 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. Haeseleer F, Jang GF, Imanishi Y, et al. (Nov 2002). "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.
5. Hara T, Harada N, Mitsui H, et al. (Aug 1994). "Characterization of cell phenotype by a novel cDNA library subtraction system: expression of CD8 alpha in a mast cell-derived interleukin-4-dependent cell line". Blood. 84 (1): 189–99. doi: 10.1182/blood.V84.1.189.189 . PMID   8018917.
6. Persson B, Kallberg Y, Bray JE, et al. (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.
7. "Entrez Gene: RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis)".
8. Xie YA, Lee W, Cai C, et al. (2014). "New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11". Human Molecular Genetics. 23 (21): 5774–5780. doi:10.1093/hmg/ddu291. PMC   4189905 . PMID   24916380.

Further reading

• Lai CH, Chou CY, Ch'ang LY, et al. (2000). "Identification of Novel Human Genes Evolutionarily Conserved in Caenorhabditis elegans by Comparative Proteomics". Genome Res. 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC   310876 . PMID   10810093.
• Lin B, White JT, Ferguson C, et al. (2001). "Prostate short-chain dehydrogenase reductase 1 (PSDR1): a new member of the short-chain steroid dehydrogenase/reductase family highly expressed in normal and neoplastic prostate epithelium". Cancer Res. 61 (4): 1611–8. PMID   11245473.
• Kedishvili NY, Chumakova OV, Chetyrkin SV, et al. (2002). "Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1)". J. Biol. Chem. 277 (32): 28909–15. doi: 10.1074/jbc.M202588200 . PMID   12036956.
• 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.
• Li K, Wang L, Cheng J, et al. (2003). "Interaction between hepatitis C virus core protein and translin protein--a possible molecular mechanism for hepatocellular carcinoma and lymphoma caused by hepatitis C virus". World J. Gastroenterol. 9 (2): 300–3. doi: 10.3748/wjg.v9.i2.300 . PMC   4611333 . PMID   12532453.
• Belyaeva OV, Stetsenko AV, Nelson P, et al. (2004). "Properties of short-chain dehydrogenase/reductase RalR1: characterization of purified enzyme, its orientation in the microsomal membrane, and distribution in human tissues and cell lines". Biochemistry. 42 (50): 14838–45. doi:10.1021/bi035288u. PMID   14674758.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi: 10.1093/dnares/12.2.117 . PMID   16303743.
• Kasus-Jacobi A, Birch DG, Anderson RE (2006). "Photoreceptor Retinol Dehydrogenases". Retinal Degenerative Diseases . Advances in Experimental Medicine and Biology. Vol. 572. pp.  505–11. doi:10.1007/0-387-32442-9_70. ISBN   978-0-387-28464-4. PMID   17249616.
• Roni V, Carpio R, Wissinger B (2007). "Mapping of transcription start sites of human retina expressed genes". BMC Genomics. 8: 42. doi: 10.1186/1471-2164-8-42 . PMC   1802077 . PMID   17286855.