Human Gene RDH8 (ENST00000591589.3_8) from GENCODE V47lift37
  Description: retinol dehydrogenase 8 (from RefSeq NM_015725.4)
Gencode Transcript: ENST00000591589.3_8
Gencode Gene: ENSG00000080511.5_11
Transcript (Including UTRs)
   Position: hg19 chr19:10,124,159-10,132,955 Size: 8,797 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr19:10,124,174-10,132,425 Size: 8,252 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:10,124,159-10,132,955)mRNA (may differ from genome)Protein (311 aa)
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BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
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-  Comments and Description Text from UniProtKB
  ID: RDH8_HUMAN
DESCRIPTION: RecName: Full=Retinol dehydrogenase 8; EC=1.1.1.300; AltName: Full=Photoreceptor outer segment all-trans retinol dehydrogenase;
FUNCTION: Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinal to all-trans-retinol. May play a role in the regeneration of visual pigment at high light intensity (By similarity).
CATALYTIC ACTIVITY: All-trans-retinol + NADP(+) = all-trans- retinal + NADPH.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
TISSUE SPECIFICITY: Detected in photoreceptor outer segments in the retina (at protein level).
SIMILARITY: Belongs to the short-chain dehydrogenases/reductases (SDR) family.
SEQUENCE CAUTION: Sequence=BAB14782.1; Type=Frameshift; Positions=26;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RDH8
Diseases sorted by gene-association score: myopia (4), macular degeneration, age-related, 1 (2), stargardt disease (1), leber congenital amaurosis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.81 RPKM in Testis
Total median expression: 1.98 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -151.00530-0.285 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011348 - 17beta_DH
IPR002198 - DH_sc/Rdtase_SDR
IPR002347 - Glc/ribitol_DH
IPR016040 - NAD(P)-bd_dom
IPR020904 - Sc_DH/Rdtase_CS

Pfam Domains:
PF00106 - short chain dehydrogenase
PF08659 - KR domain
PF13561 - Enoyl-(Acyl carrier protein) reductase

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains

ModBase Predicted Comparative 3D Structure on Q9NYR8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
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:0006694 steroid biosynthetic process
GO:0006703 estrogen biosynthetic process
GO:0007601 visual perception
GO:0042572 retinol metabolic process
GO:0050896 response to stimulus
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005737 cytoplasm
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AF229845 - Homo sapiens photoreceptor outer segment all-trans retinol dehydrogenase (PRRDH) mRNA, complete cds.
AK024022 - Homo sapiens cDNA FLJ13960 fis, clone Y79AA1001233, weakly similar to ESTRADIOL 17 BETA-DEHYDROGENASE 1 (EC 1.1.1.62).
AB464150 - Synthetic construct DNA, clone: pF1KB7236, Homo sapiens RDH8 gene for retinol dehydrogenase 8, without stop codon, in Flexi system.
BC140328 - Synthetic construct Homo sapiens clone IMAGE:100014308, MGC:173185 retinol dehydrogenase 8 (all-trans) (RDH8) mRNA, encodes complete protein.
BC146479 - Synthetic construct Homo sapiens clone IMAGE:100014981, MGC:180168 retinol dehydrogenase 8 (all-trans) (RDH8) mRNA, encodes complete protein.
JD065378 - Sequence 46402 from Patent EP1572962.
JD122556 - Sequence 103580 from Patent EP1572962.
JD528918 - Sequence 509942 from Patent EP1572962.
JD290674 - Sequence 271698 from Patent EP1572962.
JD310141 - Sequence 291165 from Patent EP1572962.
JD334318 - Sequence 315342 from Patent EP1572962.
JD228816 - Sequence 209840 from Patent EP1572962.
JD450327 - Sequence 431351 from Patent EP1572962.
JD257591 - Sequence 238615 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6857 - retinol biosynthesis
PWY-6861 - the visual cycle I (vertebrates)

Reactome (by CSHL, EBI, and GO)

Protein Q9NYR8 (Reactome details) participates in the following event(s):

R-HSA-2464803 RDH8 reduces atRAL to atROL
R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)
R-HSA-2187338 Visual phototransduction
R-HSA-418594 G alpha (i) signalling events
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000591589.1, ENST00000591589.2, NM_015725, PRRDH, Q9H838, Q9NYR8, RDH8_HUMAN, SDR28C2, uc326woe.1, uc326woe.2
UCSC ID: ENST00000591589.3_8
RefSeq Accession: NM_015725.4
Protein: Q9NYR8 (aka RDH8_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.