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
- Functionsretinol dehydrogenase activityProcessesphototransduction, visible light / retinoid metabolic process / retinol metabolic process / visual perceptionComponentsendoplasmic 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
- adh_short (PF00106)
- 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
Resource Link UniProtKB ID Q92781 UniProtKB Entry Name RDH1_HUMAN GenBank Protein ID 1616654 GenBank Gene ID U43559 GenAtlas ID RDH5 HGNC ID HGNC:9940 - General References
- 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. [Article]
- 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. [Article]
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- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]