Details for gene: RDH5


This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]


Symbol
RDH5
Name
retinol dehydrogenase 5
Entrez ID
5959
Ensembl ID
ENSG00000135437    (more details)
KEGG ID
hsa:5959    (more details)
OMIM ID
601617
Uniprot ID
Q92781  
GO ID
hsa:5959    (more details)
Chromosome
12
Strand
1
Start
55720367
End
55724705
miRNA Interactions
hsa-miR-212-3p (RPM: 7.7608) / hsa-miR-34a-5p (RPM: 81.3502) / hsa-miR-101-3p (RPM: 3335.0564) / hsa-miR-374a-5p (RPM: 52.6724) / hsa-miR-520f-3p (RPM: 0.0042) / hsa-miR-376a-5p (RPM: 4.9822) / hsa-miR-335-5p (RPM: 265.7294) /
Involved Diseases
myopia /
Involved Pathways
Metabolic pathways / Retinol metabolism / Disease / Signal Transduction / Signaling by GPCR / GPCR downstream signalling / G alpha (i) signalling events / Visual phototransduction / Retinoid cycle disease events / The canonical retinoid cycle in rods (twilight vision) / Diseases associated with visual transduction / Signaling by Retinoic Acid / RA biosynthesis pathway / Signaling by Nuclear Receptors / Diseases of the neuronal system /
Sequence
AATACGCCTGGCATCCAAGTCCACCCACTCCGGACTTTGGCCTTAGCAGTAGTTAGTGTGGGAGGCTGGGAAGACTGGGAGCAGTCTCTTAAACAAAAGCAAAAGAATAAGCTTCGGGCGCTGTAGTACCTGCCAGCTTTCGCCACAGGAGGTAAGTGGATACTGGGAGCTGGGGGAACTGAGAAGACTAGCCAGATATTACATGTATTGCCAACTCAAAACTTTCAGCTTTTAACATGCTTCCTCACACATTATCCCCTTTGATCCTCCACAACTCTGAGGTGGACCTGGTGGGTCTTAGCCCCACTTGGTAGATGAGAAAATAGGTTGAGAGAGACAGTGAGATGCTCAGTATCACACAGCAAACCTCTTGGCCCTATACATCATTCCAAACACAAGACCCAGGTTGCATATAGAAGGTTCAGTGTCCCTGGTTTAGAAGGAGAGGTGGTGTGAGGCAAGCAAGAAGATGCCTCTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATGCCTCTGCTCCATACAGCAGGTCTGTACACAGGATCTGGCTCATGTGGTTTTAGTTAAGTTAGCCACAAATACAGGGTCTGCCCACATCTTTGCTTTGAACAGATGAGCCATGGTTGGCCAATTATCTGCCAACCAGATAATTTCTCAATATGCTCACACCAGATGCTTCCAGCTAGGGAGGGTATTAGGGGAAAGGGCTTGAGGGCCACAGTAAACTGGACAAGTTTTTCTGCCCAGCCTAGGCTGCCACCTGTAGGTCACTTGGGCTCCAGCTATGTGGCTGCCTCTTCTGCTGGGTGCCTTACTCTGGGCAGTGCTGTGGTTGCTCAGGGACCGGCAGAGCCTGCCCGCCAGCAATGCCTTTGTCTTCATCACCGGCTGTGACTCAGGCTTTGGGCGCCTTCTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTGACCCCCTCCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTGTTGGATATCACTGATCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTTAAGGAAGCAGGTAAGTATGGTAGACCACCAGGAATATGGTGTGGGGTGTCCTGATCCCCACAGTCACCCCAGGAGTCACCTGCAAGGGCTGTGGTAAGCTAAAGGGACAATTTGAGGAGAAGCAGTTTTCAGATGCTCCCAGGAAGAAGAGGGAGCTGTGGGAGTGCCTCACCTACCCCCAGCATCCTTTTCATCTCCCCACAGGGCTTTTTGGTCTGGTGAATAATGCTGGTGTGGCTGGTATCATCGGACCCACACCATGGCTGACCCGGGACGATTTCCAGCGGGTGCTGAATGTGAACACAATGGGTCCCATCGGGGTCACCCTTGCCCTGCTGCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAACATCACCAGCGTCCTGGGTCGCCTGGCAGCCAATGGTGGGGGCTACTGTGTCTCCAAATTTGGCCTGGAGGCCTTCTCTGACAGCCTGAGGTGAGGGGTACAGGGCTCTGGGTTCCAGGACTAACAGCAGCCCACTCAACAAACGTGGGCCAGCAGAGGTGGTTAAGATACAGCACATTGGAATAGTTAAGAAGAGACAGTTTAGGGCTAGACTTCATGGGTTCAATGAAGTCTACCCTTATGTAAGCTTTGTGACCATAAGTAGATTACTTCTCTTTACCCATTTTTAACGTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAATTTCCACCCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCATGCCTGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGTAGCTCATTTTGGGATACGAGTCTCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACCAACCTGGAGAGTCTGGAGAAAACCCTGCAGGCCTGCTGGGCACGGCTGCCTCCTGCCACACAGGCCCACTATGGGGGGGCCTTCCTCACCAAGTGTGAGTAGCCAGGCCCACACAGGGGCACATGAAGGGAAACAAGTACCAGAAAGGCCAGTCCTGCATAAGCCTGCTAGGAGGTGGGTGGGGCACCCAGGGCAGGGTTGAGGGTGAACAGGATGTTACAAGAGTGCCCAGGCCATGTGGAACCTGCCCACTCCCCACACTGAGGAGGGGACTGAGGGTGACAAGCCCAGGGCCCCAGAAGACAGTACCTAAGATGGGCTGGAGTGAGGAAGGGAAACTGATTGCAACCACCTATGGGGCTGCAGACCTGAAAATGCAACAGCGCATCATGAACCTGATCTGTGACCCGGACCTAACCAAGGTGAGCCGATGCCTGGAGCATGCCCTGACTGCTCGACACCCCCGAACCCGCTACAGCCCAGGTTGGGATGCCAAGCTGCTCTGGCTGCCTGCCTCCTACCTGCCAGCCAGCCTGGTGGATGCTGTGCTCACCTGGGTCCTTCCCAAGCCTGCCCAAGCAGTCTACTGAATCCAGCCTTCCAGCAAGAGATTGTTTTTCAAGGACAAGGACTTTGATTTATTTCTGCCCCCACCCTGGTACTGCCTGGTGCCTGCCACAAAATAAGCACTAACAAAAGTGTATTGTTTAAAAAATAAAAAGAAGGTGGGCAGAAATGTGCCCAGTGGAA

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