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)
End	67,695,793 bp
RNA expression pattern
	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
	; ;
	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

^ ^a ^b ^c 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, 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.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis)".
^ 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.

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.

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.

[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, 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.

[pmid8018917-5] 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.

[pmid19027726-6] 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.

[entrez-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.

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RDH11

Clinical significance

References

Further reading