Homo sapiens Gene: RDH12
Summary
InnateDB Gene IDBG-10044.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RDH12
Gene Name retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000139988
Encoded Proteins
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 3 (LCA3). [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:67701886-67734452
Strand Forward strand
Band q24.1
Transcripts
ENST00000267502 ENSP00000267502
ENST00000551171 ENSP00000449079
ENST00000547463
ENST00000552873
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004745 retinol dehydrogenase activity
GO:0005515 protein binding
GO:0016491 oxidoreductase activity
GO:0050662 coenzyme binding
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:0045494 photoreceptor cell maintenance
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005622 intracellular
GO:0060342 photoreceptor inner segment membrane
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 Q96NR8
TrEMBL
UniProt Splice Variant
Entrez Gene 145226
UniGene Hs.415322 Hs.739915
RefSeq NM_152443
HUGO HGNC:19977
OMIM 608830
CCDS CCDS9787
HPRD 10585
IMGT
EMBL AK054835 AK315462 AL049779 BC025724 CH471061
GenPept AAH25724 BAB70811 BAG37849 EAW80951
RNA Seq Atlas 145226