Sequence of RDH5_HUMAN

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
3alpha(or 20beta)-hydroxysteroid dehydrogenase
Q92781
Homo sapiens
318
34979
Reaction
androstan-3alpha,17beta-diol + NAD+ = 17beta-hydroxyandrostan-3-one + NADH + H+
Sequences with same EC No.
Sequence
show sequence in fasta format
  0 MWLPLLLGAL LWAVLWLLRD RQSLPASNAF VFITGCDSGF GRLLALQLDQ RGFRVLASCL
 60 TPSGAEDLQR VASSRLHTTL LDITDPQSVQ QAAKWVEMHV KEAGLFGLVN NAGVAGIIGP
120 TPWLTRDDFQ RVLNVNTMGP IGVTLALLPL LQQARGRVIN ITSVLGRLAA NGGGYCVSKF
180 GLEAFSDSLR RDVAHFGIRV SIVEPGFFRT PVTNLESLEK TLQACWARLP PATQAHYGGA
240 FLTKYLKMQQ RIMNLICDPD LTKVSRCLEH ALTARHPRTR YSPGWDAKLL WLPASYLPAS
300 LVDAVLTWVL PKPAQAVY
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
204851
Simon A.,Lagercrantz J.,Bajalica-Lagercrantz S.,Eriksson U.
Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene.
Genomics
36
424-430
1996
204852
Mertz J.R.,Shang E.,Piantedosi R.,Wei S.,Wolgemuth D.J.,Blaner W.S.
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
11744-11749
1997
204854
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
204855
Wang J.,Chai X.,Eriksson U.,Napoli J.L.
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
23-27
1999
204856
Gamble M.V.,Shang E.,Zott R.P.,Mertz J.R.,Wolgemuth D.J.,Blaner W.S.
Biochemical properties, tissue expression, and gene structure of a short chain dehydrogenase/reductase able to catalyze cis-retinol oxidation.
J. Lipid Res.
40
2279-2292
1999
204857
Liden M.,Romert A.,Tryggvason K.,Persson B.,Eriksson U.
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.
J. Biol. Chem.
276
49251-49257
2001
204858
Persson B.,Kallberg Y.,Bray J.E.,Bruford E.,Dellaporta S.L.,Favia A.D.,Duarte R.G.,Joernvall H.,Kavanagh K.L.,Kedishvili N.,Kisiela M.,Maser E.,Mindnich R.,Orchard S.,Penning T.M.,Thornton J.M.,Adamski J.,Oppermann U.
The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.
Chem. Biol. Interact.
178
94-98
2009
204859
Gonzalez-Fernandez F.,Kurz D.,Bao Y.,Newman S.,Conway B.P.,Young J.E.,Han D.P.,Khani S.C.
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
Mol. Vis.
5
41-41
1999
204860
Yamamoto H.,Simon A.,Eriksson U.,Harris E.,Berson E.L.,Dryja T.P.
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
Nat. Genet.
22
188-191
1999
204861
Kuroiwa S.,Kikuchi T.,Yoshimura N.
A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.
Am. J. Ophthalmol.
130
672-675
2000
204862
Nakamura M.,Hotta Y.,Tanikawa A.,Terasaki H.,Miyake Y.
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
Invest. Ophthalmol. Vis. Sci.
41
3925-3932
2000
204863
Hirose E.,Inoue Y.,Morimura H.,Okamoto N.,Fukuda M.,Yamamoto S.,Fujikado T.,Tano Y.
Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus.
Invest. Ophthalmol. Vis. Sci.
41
3933-3935
2000
204864
Driessen C.A.,Janssen B.P.,Winkens H.J.,Kuhlmann L.D.,Van Vugt A.H.,Pinckers A.J.,Deutman A.F.,Janssen J.J.
Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.
Ophthalmology
108
1479-1484
2001
204865
Hotta K.,Nakamura M.,Kondo M.,Ito S.,Terasaki H.,Miyake Y.,Hida T.
Macular dystrophy in a Japanese family with fundus albipunctatus.
Am. J. Ophthalmol.
135
917-919
2003
204866
Yamamoto H.,Yakushijin K.,Kusuhara S.,Escano M.F.,Nagai A.,Negi A.
A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.
Am. J. Ophthalmol.
136
572-574
2003
204867
Ajmal M.,Khan M.I.,Neveling K.,Khan Y.M.,Ali S.H.,Ahmed W.,Iqbal M.S.,Azam M.,den Hollander A.I.,Collin R.W.,Qamar R.,Cremers F.P.
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
Mol. Vis.
18
1558-1571
2012
204868
Maranhao B.,Biswas P.,Duncan J.L.,Branham K.E.,Silva G.A.,Naeem M.A.,Khan S.N.,Riazuddin S.,Hejtmancik J.F.,Heckenlively J.R.,Riazuddin S.A.,Lee P.L.,Ayyagari R.
exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
Genomics
103
169-176
2014
204869
Skorczyk-Werner A.,Pawlowski P.,Michalczuk M.,Warowicka A.,Wawrocka A.,Wicher K.,Bakunowicz-Lazarczyk A.,Krawczynski M.R.
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
J. Appl. Genet.
56
317-327
2015
204870
Li L.,Chen Y.,Jiao X.,Jin C.,Jiang D.,Tanwar M.,Ma Z.,Huang L.,Ma X.,Sun W.,Chen J.,Ma Y.,M'hamdi O.,Govindarajan G.,Cabrera P.E.,Li J.,Gupta N.,Naeem M.A.,Khan S.N.,Riazuddin S.,Akram J.,Ayyagari R.,Sieving P.A.,Riazuddin S.A.,Hejtmancik J.F.
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
Invest. Ophthalmol. Vis. Sci.
58
2218-2238
2017
204871
Fiandalo M.V.,Stocking J.J.,Pop E.A.,Wilton J.H.,Mantione K.M.,Li Y.,Attwood K.M.,Azabdaftari G.,Wu Y.,Watt D.S.,Wilson E.M.,Mohler J.L.
Inhibition of dihydrotestosterone synthesis in prostate cancer by combined frontdoor and backdoor pathway blockade.
Oncotarget
9
11227-11242
2018