LIPID MAPS

LMPD ID

LMP012384

Gene ID

50700

Species

Homo sapiens (Human)

Gene Name

retinol dehydrogenase 8 (all-trans)

Gene Symbol

RDH8

Synonyms

PRRDH; SDR28C2;

Chromosome

19

Map Location

19p13.2

EC Number

1.1.1.300

Summary

This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhodopsin regeneration pathway. This enzymatic reaction is the rate-limiting step in the visual cycle. [provided by RefSeq, Feb 2014]

Orthologs

View orthologs and multiple alignments for RDH8

retinol dehydrogenase 8
Refseq ID	NP_056540
Protein GI	393535067
UniProt ID	Q9NYR8
mRNA ID	NM_015725
Length	331
MNGQSQVLPGGGHESREGINMAAAPRTVLISGCSSGIGLELAVQLAHDPKKRYQVVATMRDLGKKETLEAAAGEALGQTLTVAQLDVCSDESVAQCLSCIQGEVDVLVNNAGMGLVGPLEGLSLAAMQNVFDTNFFGAVRLVKAVLPGMKRRRQGHIVVISSVMGLQGVIFNDVYAASKFALEGFFESLAIQLLQFNIFISLVEPGPVVTEFEGKLLAQVSMAEFPGTDPETLHYFRDLYLPASRKLFCSVGQNPQDVVQAIVNVISSTRPPLRRQTNIRYSPLTTLKTVDSSGSLYVRTTHRLLFRCPRLLNLGLQCLSCGCLPTRVRPR

Entrez Gene ID

50700

Gene Name

retinol dehydrogenase 8 (all-trans)

Gene Symbol

RDH8

Species

Homo sapiens

Gene Ontology (GO Annotations)

GO ID	Source	Type	Description
GO:0005737	IEA:InterPro	C	cytoplasm
GO:0005887	TAS:ProtInc	C	integral component of plasma membrane
GO:0052650	IEA:UniProtKB-EC	F	NADP-retinol dehydrogenase activity
GO:0004303	IEA:InterPro	F	estradiol 17-beta-dehydrogenase activity
GO:0004745	TAS:ProtInc	F	retinol dehydrogenase activity
GO:0006703	IEA:InterPro	P	estrogen biosynthetic process
GO:0007603	TAS:Reactome	P	phototransduction, visible light
GO:0001523	TAS:Reactome	P	retinoid metabolic process
GO:0006694	TAS:ProtInc	P	steroid biosynthetic process
GO:0007601	TAS:ProtInc	P	visual perception

KEGG Pathway Links

KEGG Pathway ID	Description
hsa01100	Metabolic pathways
hsa00830	Retinol metabolism
ko00830	Retinol metabolism

BIOCYC Pathway Links

BIOCYC Pathway ID	Description
PWY-6857	retinol biosynthesis
PWY-6857	retinol biosynthesis
PWY-6861	the visual cycle I (vertebrates)
PWY-6861	the visual cycle I (vertebrates)

REACTOME Pathway Links

REACTOME Pathway ID	Description
REACT_116125	Disease
REACT_160102	Diseases associated with visual transduction
REACT_111102	Signal Transduction
REACT_160156	The canonical retinoid cycle in rods (twilight vision)
REACT_160125	Visual phototransduction

InterPro Annotations

Accession	Description
IPR011348	17beta-dehydrogenase
IPR002347	Glucose/ribitol dehydrogenase
IPR016040	NAD(P)-binding domain
IPR002198	Short-chain dehydrogenase/reductase SDR
IPR020904	Short-chain dehydrogenase/reductase, conserved site

Entry Information

Gene Name

retinol dehydrogenase 8 (all-trans)

Protein Entry

RDH8_HUMAN

UniProt ID

Q9NYR8

Species

Human

Comments

Comment Type	Description
Catalytic Activity	All-trans-retinol + NADP(+) = all-trans- retinal + NADPH.
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)
Sequence Caution	Sequence=BAB14782.1; Type=Frameshift; Positions=26; Evidence= ;
Similarity	Belongs to the short-chain dehydrogenases/reductases (SDR) family
Subcellular Location	Membrane ; Multi-pass membrane protein
Tissue Specificity	Detected in photoreceptor outer segments in the retina (at protein level)