Homo sapiens Gene: RDH8
Summary
InnateDB Gene IDBG-26287.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RDH8
Gene Name retinol dehydrogenase 8 (all-trans)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000080511
Encoded Proteins
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary All-trans-retinol dehydrogenase (RDH8) is a visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol in the presence of NADPH (Rattner et al., 2000 [PubMed 10753906]). It is a member of the short chain dehydrogenase/reductase family and is located in the outer segments of photoreceptors; hence it is also known as photoreceptor retinol dehydrogenase. It is important in the visual cycle by beginning the rhodopsin regeneration pathway by reducing all-trans-retinal, the product of bleached and hydrolysed rhodopsin (Rando, 2001 [PubMed 11710234]). This is a rate-limiting step in the visual cycle (Saari et al., 1998 [PubMed 9667000]).[supplied by OMIM, Mar 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:10013249-10022279
Strand Forward strand
Band p13.2
Transcripts
ENST00000589570
ENST00000591589 ENSP00000466058
ENST00000587782 ENSP00000465773
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0004303 estradiol 17-beta-dehydrogenase activity
GO:0004745 retinol dehydrogenase activity
GO:0016491 oxidoreductase activity
GO:0052650 NADP-retinol dehydrogenase activity
Biological Process
GO:0001523 retinoid metabolic process
GO:0006694 steroid biosynthetic process
GO:0006703 estrogen biosynthetic 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:0005737 cytoplasm
GO:0005887 integral component of plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
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 NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.675522
RefSeq NM_015725
HUGO
OMIM
CCDS CCDS12223
HPRD 16350
IMGT
EMBL
GenPept
RNA Seq Atlas