Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol RDH5 contributors: - updated : 24-03-2007
HGNC name retinol dehydrogenase 5 (11-cis and 9-cis)
HGNC id 9940
Corresponding disease
RDH5 fundus albipunctatus, congenital stationary night blindness
Location 12q13      Physical location : 56.114.150 - 56.118.525
Synonym name formerly RDH1
Synonym symbol(s) RDH11C, RDH1
EC.number 1.1.1.105
DNA
TYPE functioning gene
STRUCTURE 4.00 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinethyroid    
Visualeyeretina   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Epithelialbarrier/liningretinal pigment epithelium (RPE)  
Membraneserous membranepericardium  
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES Hydrophobic
STRUCTURE
motifs/domains
  • two transmembrane segments (TM2)
  • the catalytic domain on the lumenal compartment
    • HOMOLOGY
    interspecies ortholog to murine Rdh5
    Homologene
    FAMILY short chain alcohol dehydrogenase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION final step in the synthesis of 11-cis retinaldehyde
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RDH5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS