11-cis retinol dehydrogenase

Details

Name
11-cis retinol dehydrogenase
Synonyms
  • 1.1.1.315
  • 11-cis RDH
  • 9-cis retinol dehydrogenase
  • 9cRDH
  • HSD17B9
  • RDH1
  • Retinol dehydrogenase 5
  • SDR9C5
  • Short chain dehydrogenase/reductase family 9C member 5
Gene Name
RDH5
Organism
Humans
Amino acid sequence
>lcl|BSEQ0010394|11-cis retinol dehydrogenase
MWLPLLLGALLWAVLWLLRDRQSLPASNAFVFITGCDSGFGRLLALQLDQRGFRVLASCL
TPSGAEDLQRVASSRLHTTLLDITDPQSVQQAAKWVEMHVKEAGLFGLVNNAGVAGIIGP
TPWLTRDDFQRVLNVNTMGPIGVTLALLPLLQQARGRVINITSVLGRLAANGGGYCVSKF
GLEAFSDSLRRDVAHFGIRVSIVEPGFFRTPVTNLESLEKTLQACWARLPPATQAHYGGA
FLTKYLKMQQRIMNLICDPDLTKVSRCLEHALTARHPRTRYSPGWDAKLLWLPASYLPAS
LVDAVLTWVLPKPAQAVY
Number of residues
318
Molecular Weight
34978.425
Theoretical pI
9.7
GO Classification
Functions
retinol dehydrogenase activity
Processes
phototransduction, visible light / retinoid metabolic process / retinol metabolic process / visual perception
Components
endoplasmic reticulum lumen / endoplasmic reticulum membrane
General Function
Retinol dehydrogenase activity
Specific Function
Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all-trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Membrane
Gene sequence
>lcl|BSEQ0010395|11-cis retinol dehydrogenase (RDH5)
ATGTGGCTGCCTCTTCTGCTGGGTGCCTTACTCTGGGCAGTGCTGTGGTTGCTCAGGGAC
CGGCAGAGCCTGCCCGCCAGCAATGCCTTTGTCTTCATCACCGGCTGTGACTCAGGCTTT
GGGCGCCTTCTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTG
ACCCCCTCCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTG
TTGGATATCACTGATCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTT
AAGGAAGCAGGGCTTTTTGGTCTGGTGAATAATGCTGGTGTGGCTGGTATCATCGGACCC
ACACCATGGCTGACCCGGGACGATTTCCAGCGGGTGCTGAATGTGAACACAATGGGTCCC
ATCGGGGTCACCCTTGCCCTGCTGCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAAC
ATCACCAGCGTCCTGGGTCGCCTGGCAGCCAATGGTGGGGGCTACTGTGTCTCCAAATTT
GGCCTGGAGGCCTTCTCTGACAGCCTGAGGCGGGATGTAGCTCATTTTGGGATACGAGTC
TCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACCAACCTGGAGAGTCTGGAGAAA
ACCCTGCAGGCCTGCTGGGCACGGCTGCCTCCTGCCACACAGGCCCACTATGGGGGGGCC
TTCCTCACCAAGTACCTGAAAATGCAACAGCGCATCATGAACCTGATCTGTGACCCGGAC
CTAACCAAGGTGAGCCGATGCCTGGAGCATGCCCTGACTGCTCGACACCCCCGAACCCGC
TACAGCCCAGGTTGGGATGCCAAGCTGCTCTGGCTGCCTGCCTCCTACCTGCCAGCCAGC
CTGGTGGATGCTGTGCTCACCTGGGTCCTTCCCAAGCCTGCCCAAGCAGTCTACTGA
Chromosome Location
12
Locus
12q13-q14
External Identifiers
ResourceLink
UniProtKB IDQ92781
UniProtKB Entry NameRDH1_HUMAN
GenBank Protein ID1616654
GenBank Gene IDU43559
GenAtlas IDRDH5
HGNC IDHGNC:9940
General References
  1. 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. 1996 Sep 15;36(3):424-30. [PubMed:8884265]
  2. Mertz JR, Shang E, Piantedosi R, Wei S, Wolgemuth DJ, Blaner WS: 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. 1997 May 2;272(18):11744-9. [PubMed:9115228]
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334]
  4. Gamble MV, Shang E, Zott RP, Mertz JR, Wolgemuth DJ, Blaner WS: Biochemical properties, tissue expression, and gene structure of a short chain dehydrogenase/ reductase able to catalyze cis-retinol oxidation. J Lipid Res. 1999 Dec;40(12):2279-92. [PubMed:10588954]
  5. 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. 2001 Dec 28;276(52):49251-7. Epub 2001 Oct 23. [PubMed:11675386]
  6. Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC: 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. Mol Vis. 1999 Dec 30;5:41. [PubMed:10617778]
  7. Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP: Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet. 1999 Jun;22(2):188-91. [PubMed:10369264]
  8. Kuroiwa S, Kikuchi T, Yoshimura N: A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. Am J Ophthalmol. 2000 Nov;130(5):672-5. [PubMed:11078852]
  9. 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. 2000 Nov;41(12):3925-32. [PubMed:11053295]
  10. Driessen CA, Janssen BP, Winkens HJ, Kuhlmann LD, Van Vugt AH, Pinckers AJ, Deutman AF, Janssen JJ: Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. Ophthalmology. 2001 Aug;108(8):1479-84. [PubMed:11470705]
  11. 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. 2003 Jun;135(6):917-9. [PubMed:12788147]
  12. Yamamoto H, Yakushijin K, Kusuhara S, Escano MF, 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. 2003 Sep;136(3):572-4. [PubMed:12967826]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00157NADHapproved, nutraceuticalunknownDetails
DB00162Vitamin Aapproved, nutraceutical, vet_approvedunknownDetails