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Protein

Retinol dehydrogenase 8

Gene

RDH8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • estrogen biosynthetic process Source: InterPro
  • response to stimulus Source: UniProtKB-KW
  • steroid biosynthetic process Source: ProtInc
  • visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS01358-MONOMER.
ZFISH: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.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • cytoplasm Source: InterPro
  • integral component of plasma membrane Source: ProtInc
Complete GO annotation...

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.
TopDownProteomicsiQ9NYR8.

PTM databases

iPTMnetiQ9NYR8.
PhosphoSitePlusiQ9NYR8.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000080511.
CleanExiHS_RDH8.

Organism-specific databases

HPAiCAB037276.

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

Gene3Di3.40.50.720. 1 hit.
InterProiIPR011348. 17beta_DH.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
IPR002347. SDR_fam.
[Graphical view]
PANTHERiPTHR24322. PTHR24322. 2 hits.
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PIRSFiPIRSF000095. 17beta-HSD. 1 hit.
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
SUPFAMiSSF51735. SSF51735. 1 hit.
PROSITEiPS00061. ADH_SHORT. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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 rs1122206dbSNPEnsembl.1
Natural variantiVAR_035233202M → T.Corresponds to variant rs1644731dbSNPEnsembl.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

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.
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.
HPAiCAB037276.
MIMi608575. gene.
neXtProtiNX_Q9NYR8.
PharmGKBiPA34309.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1205. Eukaryota.
COG1028. LUCA.
HOVERGENiHBG014077.
InParanoidiQ9NYR8.
KOiK11150.
PhylomeDBiQ9NYR8.
TreeFamiTF105451.

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiRDH8.
GenomeRNAii50700.
PROiQ9NYR8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000080511.
CleanExiHS_RDH8.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR011348. 17beta_DH.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
IPR002347. SDR_fam.
[Graphical view]
PANTHERiPTHR24322. PTHR24322. 2 hits.
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PIRSFiPIRSF000095. 17beta-HSD. 1 hit.
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
SUPFAMiSSF51735. SSF51735. 1 hit.
PROSITEiPS00061. ADH_SHORT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRDH8_HUMAN
AccessioniPrimary (citable) accession number: Q9NYR8
Secondary accession number(s): Q9H838
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 1, 2000
Last modified: November 2, 2016
This is version 117 of the entry and version 1 of the sequence. [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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.