Homo sapiens Gene: RDH5
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)
Protein Structure
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:55720367-55724705
Strand Forward strand
Band q13.2
Transcripts
ENST00000257895 ENSP00000257895
ENST00000553160
ENST00000547072 ENSP00000449927
ENST00000552930 ENSP00000448014
ENST00000553187
ENST00000548486
ENST00000550608
ENST00000548082 ENSP00000447128
ENST00000547301
ENST00000548123 ENSP00000447513
ENST00000551444
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004745 retinol dehydrogenase activity
GO:0016491 oxidoreductase activity
Biological Process
GO:0001523 retinoid metabolic process
GO:0007601 visual perception
GO:0007603 phototransduction, visible light
GO:0008152 metabolic process
GO:0042572 retinol metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005788 endoplasmic reticulum lumen
GO:0005789 endoplasmic reticulum membrane
GO:0044297 cell body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
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
KEGG
Retinol metabolism pathway
INOH
PID BIOCARTA
PID NCI
Visual signal transduction: Cones
Visual signal transduction: Rods
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