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Protein

Retinol dehydrogenase 8

Gene

RDH8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity

Catalytic activityi

All-trans-retinol + NADP+ = all-trans-retinal + NADPH.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei142SubstrateSequence analysis1
Active sitei155Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi9 – 18NADPBy similarity10

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processSensory transduction, Vision
LigandNADP

Enzyme and pathway databases

BioCyciMetaCyc:HS01358-MONOMER
BRENDAi1.1.1.300 2681
ReactomeiR-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)

Names & Taxonomyi

Protein namesi
Recommended name:
Retinol dehydrogenase 8 (EC:1.1.1.300)
Alternative name(s):
Photoreceptor outer segment all-trans retinol dehydrogenase
Short chain dehydrogenase/reductase family 28C member 2
Gene namesi
Name:RDH8
Synonyms:PRRDH, SDR28C2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:14423 RDH8
MIMi608575 gene
neXtProtiNX_Q9NYR8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei86 – 106HelicalSequence analysisAdd BLAST21
Transmembranei137 – 157HelicalSequence analysisAdd BLAST21
Transmembranei169 – 189HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi50700
PharmGKBiPA34309

Chemistry databases

DrugBankiDB00162 Vitamin A

Polymorphism and mutation databases

BioMutaiRDH8
DMDMi74753074

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003059721 – 311Retinol dehydrogenase 8Add BLAST311

Proteomic databases

PaxDbiQ9NYR8
PeptideAtlasiQ9NYR8
PRIDEiQ9NYR8
ProteomicsDBi83268
TopDownProteomicsiQ9NYR8

PTM databases

iPTMnetiQ9NYR8
PhosphoSitePlusiQ9NYR8

Expressioni

Tissue specificityi

Detected in photoreceptor outer segments in the retina (at protein level).1 Publication

Gene expression databases

CleanExiHS_RDH8

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000171214

Structurei

3D structure databases

ProteinModelPortaliQ9NYR8
SMRiQ9NYR8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1205 Eukaryota
COG1028 LUCA
HOVERGENiHBG014077
InParanoidiQ9NYR8
KOiK11150
PhylomeDBiQ9NYR8
TreeFamiTF105451

Family and domain databases

InterProiView protein in InterPro
IPR011348 17beta_DH
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam
PfamiView protein in Pfam
PF00106 adh_short, 1 hit
PIRSFiPIRSF000095 17beta-HSD, 1 hit
PRINTSiPR00081 GDHRDH
PR00080 SDRFAMILY
SUPFAMiSSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS00061 ADH_SHORT, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9NYR8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAAPRTVLI SGCSSGIGLE LAVQLAHDPK KRYQVVATMR DLGKKETLEA
60 70 80 90 100
AAGEALGQTL TVAQLDVCSD ESVAQCLSCI QGEVDVLVNN AGMGLVGPLE
110 120 130 140 150
GLSLAAMQNV FDTNFFGAVR LVKAVLPGMK RRRQGHIVVI SSVMGLQGVI
160 170 180 190 200
FNDVYAASKF ALEGFFESLA IQLLQFNIFI SLVEPGPVVT EFEGKLLAQV
210 220 230 240 250
SMAEFPGTDP ETLHYFRDLY LPASRKLFCS VGQNPQDVVQ AIVNVISSTR
260 270 280 290 300
PPLRRQTNIR YSPLTTLKTV DSSGSLYVRT THRLLFRCPR LLNLGLQCLS
310
CGCLPTRVRP R
Length:311
Mass (Da):33,755
Last modified:October 1, 2000 - v1
Checksum:iD62416D1F0377ECE
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ELF7K7ELF7_HUMAN
Retinol dehydrogenase 8
RDH8
331Annotation score:
K7EKT5K7EKT5_HUMAN
Retinol dehydrogenase 8
RDH8
79Annotation score:

Sequence cautioni

The sequence BAB14782 differs from that shown. Reason: Frameshift at position 26.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035232136H → Q. Corresponds to variant dbSNP:rs1122206Ensembl.1
Natural variantiVAR_035233202M → T. Corresponds to variant dbSNP:rs1644731Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF229845 mRNA Translation: AAF63160.1
AK024022 mRNA Translation: BAB14782.1 Frameshift.
RefSeqiNP_056540.2, NM_015725.2
UniGeneiHs.675522

Genome annotation databases

EnsembliENST00000171214; ENSP00000171214; ENSG00000080511
GeneIDi50700
KEGGihsa:50700

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF229845 mRNA Translation: AAF63160.1
AK024022 mRNA Translation: BAB14782.1 Frameshift.
RefSeqiNP_056540.2, NM_015725.2
UniGeneiHs.675522

3D structure databases

ProteinModelPortaliQ9NYR8
SMRiQ9NYR8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000171214

Chemistry databases

DrugBankiDB00162 Vitamin A

PTM databases

iPTMnetiQ9NYR8
PhosphoSitePlusiQ9NYR8

Polymorphism and mutation databases

BioMutaiRDH8
DMDMi74753074

Proteomic databases

PaxDbiQ9NYR8
PeptideAtlasiQ9NYR8
PRIDEiQ9NYR8
ProteomicsDBi83268
TopDownProteomicsiQ9NYR8

Protocols and materials databases

DNASUi50700
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000171214; ENSP00000171214; ENSG00000080511
GeneIDi50700
KEGGihsa:50700

Organism-specific databases

CTDi50700
DisGeNETi50700
GeneCardsiRDH8
HGNCiHGNC:14423 RDH8
MIMi608575 gene
neXtProtiNX_Q9NYR8
PharmGKBiPA34309
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1205 Eukaryota
COG1028 LUCA
HOVERGENiHBG014077
InParanoidiQ9NYR8
KOiK11150
PhylomeDBiQ9NYR8
TreeFamiTF105451

Enzyme and pathway databases

BioCyciMetaCyc:HS01358-MONOMER
BRENDAi1.1.1.300 2681
ReactomeiR-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)

Miscellaneous databases

GeneWikiiRDH8
GenomeRNAii50700
PROiPR:Q9NYR8
SOURCEiSearch...

Gene expression databases

CleanExiHS_RDH8

Family and domain databases

InterProiView protein in InterPro
IPR011348 17beta_DH
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam
PfamiView protein in Pfam
PF00106 adh_short, 1 hit
PIRSFiPIRSF000095 17beta-HSD, 1 hit
PRINTSiPR00081 GDHRDH
PR00080 SDRFAMILY
SUPFAMiSSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS00061 ADH_SHORT, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRDH8_HUMAN
AccessioniPrimary (citable) accession number: Q9NYR8
Secondary accession number(s): Q9H838
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 1, 2000
Last modified: June 20, 2018
This is version 123 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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