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
Gene location (Human)
Chr.	Chromosome 14 (human)[1]
End	67,695,793 bp[1]
RNA expression pattern
	Top expressed in
	retinal pigment epithelium; ; islet of Langerhans; ; Brodmann area 23; ; kidney tubule; ; tibia; ; corpus epididymis; ; vulva; ; visceral pleura; ; prostate; ; renal medulla;
	n/a
	More reference expression data
	; ;
	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
	51109
	17252
	ENSG00000072042
	n/a
	Q8TC12
	Q9QYF1
	NM_016026; NM_001252650
	NM_021557; NM_001362269; NM_001362270
	NP_001239579; NP_057110
	NP_067532; NP_001349198; NP_001349199
	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

GRCh38: Ensembl release 89: ENSG00000072042 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Haeseleer F, Jang GF, Imanishi Y, Driessen CA, Matsumura M, Nelson PS, Palczewski K (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.
Hara T, Harada N, Mitsui H, Miura T, Ishizaka T, Miyajima A (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.
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. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
"Entrez Gene: RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis)".
Xie, Y. A.; Lee, W; Cai, C; Gambin, T; Nõupuu, K; Sujirakul, T; Ayuso, C; Jhangiani, S; Muzny, D; Boerwinkle, E; Gibbs, R; Greenstein, V. C.; Lupski, J. R.; Tsang, S. H.; Allikmets, R (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.

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, Kedishvili NY (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.

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[refGRCh38Ensembl-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.

[pmid12226107-4] Haeseleer F, Jang GF, Imanishi Y, Driessen CA, Matsumura M, Nelson PS, Palczewski K (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.

[pmid8018917-5] Hara T, Harada N, Mitsui H, Miura T, Ishizaka T, Miyajima A (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.

[pmid19027726-6] 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. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.

[entrez-7] "Entrez Gene: RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis)".

[8] Xie, Y. A.; Lee, W; Cai, C; Gambin, T; Nõupuu, K; Sujirakul, T; Ayuso, C; Jhangiani, S; Muzny, D; Boerwinkle, E; Gibbs, R; Greenstein, V. C.; Lupski, J. R.; Tsang, S. H.; Allikmets, R (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.

RDH11

Clinical significance

References

Further reading