| URN | urn:agi-llid:5959 |
|---|---|
| Total Entities | 0 |
| Connectivity | 77 |
| Name | Rdh5 |
| Description | retinol dehydrogenase 5 |
| Notes | 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] |
| GO Molecular Function | nucleotide binding |
|---|---|
| oxidoreductase activity | |
| retinol dehydrogenase activity |
| GO Cellular Component | membrane |
|---|---|
| endoplasmic reticulum lumen | |
| cell body | |
| endoplasmic reticulum |
| GO Biological Process | response to stimulus |
|---|---|
| metabolic process | |
| retinol metabolic process | |
| visual perception | |
| oxidation-reduction process |
| Pathway | Vitamin A (retinol) metabolism and visual cycle |
|---|---|
| retinoid cycle metabolic pathway | |
| altered retinoid cycle metabolic pathway |
| Group | response to stimulus |
|---|---|
| metabolic process | |
| retinol metabolic process | |
| visual perception | |
| oxidation-reduction process | |
| nucleotide binding | |
| oxidoreductase activity | |
| retinol dehydrogenase activity | |
| membrane | |
| endoplasmic reticulum lumen | |
| cell body | |
| endoplasmic reticulum |
| MedScan ID | 5959 |
|---|---|
| 366791 | |
| 614533 |
| Hugo ID | 9940 |
|---|
| Human chromosome position | 12q13-q14 |
|---|
| LocusLink ID | 5959 |
|---|---|
| 19682 | |
| 366791 | |
| 684701 |
| Alias | RDH1 |
|---|---|
| SDR9C5 | |
| HSD17B9 | |
| 11-cis retinol dehydrogenase | |
| 11-cis RDH | |
| retinol dehydrogenase 1 | |
| 9-cis-retinol specific dehydrogenase | |
| retinol dehydrogenase 5 (11-cis and 9-cis) | |
| short chain dehydrogenase/reductase family 9C, member 5 | |
| RDH4 | |
| cRDH | |
| 9-cis | |
| AI987873 | |
| 11-cis RoDH | |
| cis-retinol dehydrogenase | |
| 9-cis retinol dehydrogenase | |
| 9-cis-retinol dehydrogenase | |
| retinol dehydrogenase type 5 | |
| retinol dehydrogenase 5 (11-cis/9-cis) | |
| RDH I | |
| retinol dehydrogenase V | |
| retinol dehydrogenase 5 | |
| Rdh5 | |
| 9-cis RDH | |
| LOC81991 | |
| LOC196409 | |
| 11-cis and 9-cis retinol dehydrogenase | |
| OTTMUSP00000045283 | |
| 9-cis RDH5 | |
| LOC684701 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 601617 |
|---|---|
| 136880 |
| Unigene ID | Hs.732037 |
|---|---|
| Mm.439856 | |
| Rn.23578 |
| KEGG ID | hsa:5959 |
|---|---|
| mmu:19682 | |
| rno:366791 |
| Swiss-Prot Accession | Q92781 |
|---|---|
| O55240 | |
| O00179 | |
| Q8TAI2 |
| EC Number | 1.1.1.315 |
|---|
| GO ID | 0000166 |
|---|---|
| 0004745 | |
| 0050896 | |
| 0042572 | |
| 0007601 | |
| 0005788 | |
| 0016020 | |
| 0016491 | |
| 0008152 | |
| 0055114 | |
| 0044297 | |
| 0005783 |
| Swiss-Prot ID | RDH1_HUMAN |
|---|---|
| RDH1_MOUSE |
| Cell Localization | Membrane |
|---|---|
| Endoplasmic reticulum lumen |
| IPI ID | IPI00023319 |
|---|---|
| IPI00918800 | |
| IPI00392019 | |
| IPI00779947 | |
| IPI00779933 | |
| IPI00780481 |
| Mouse chromosome position | 10 72.0 cM |
|---|
| Rat chromosome position | 7q11 |
|---|
| Homologene ID | 2179 |
|---|
| MGI ID | 1201412 |
|---|
| RGD ID | 1308849 |
|---|