Version 5.4
| Homo sapiens Gene: RDH5 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-38950.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | RDH5 | ||||||||||||||||||
| Gene Name | retinol dehydrogenase 5 (11-cis/9-cis) | ||||||||||||||||||
| Synonyms | 9cRDH; HSD17B9; RDH1; SDR9C5 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000135437 | ||||||||||||||||||
| Encoded Proteins |
retinol dehydrogenase 5 (11-cis/9-cis)
retinol dehydrogenase 5 (11-cis/9-cis)
retinol dehydrogenase 5 (11-cis/9-cis)
retinol dehydrogenase 5 (11-cis/9-cis)
retinol dehydrogenase 5 (11-cis/9-cis)
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 12:55720367-55724705 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q13.2 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
The canonical retinoid cycle in rods (twilight vision) pathway
Signal Transduction pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
Disease pathway
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| KEGG |
Retinol metabolism pathway
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| INOH | |||||||||||||||||||
| PID NCI |
Visual signal transduction: Cones
Visual signal transduction: Rods
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| Cross-References | |||||||||||||||||||
| SwissProt | Q92781 | ||||||||||||||||||
| TrEMBL | A0A024RB18 B4DDS2 F8VUB9 F8VVC7 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 5959 | ||||||||||||||||||
| UniGene | Hs.600940 | ||||||||||||||||||
| RefSeq | NM_001199771 NM_002905 | ||||||||||||||||||
| HUGO | HGNC:9940 | ||||||||||||||||||
| OMIM | 601617 | ||||||||||||||||||
| CCDS | CCDS31829 | ||||||||||||||||||
| HPRD | 03370 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC009779 AF037062 AK293313 BC028298 CH471054 U43559 U89717 | ||||||||||||||||||
| GenPept | AAB93668 AAC09250 AAC50725 AAH28298 BAG56833 EAW96825 EAW96826 | ||||||||||||||||||
| RNA Seq Atlas | 102723524 5959 | ||||||||||||||||||