Retina International‘s Scientific Newsletter

Retinol Dehydrogenases

Recent update from: 25.04.2005

RDH,

Notes

Membrane associated
Utilizes NADP and NAD
Catalyses the limiting step in the visual cycle: atRAl to atRol due to accumulation of atRAl in mice exposed to constant light

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (8)

RDH,

Notes

All-trans-RDH in ROS completes Rho quenching
Starts regeneration of visual pigments
atRAl -> at Rol
Diffuses across the ROS-membrane -> IPS and binds to IRBP
Reaction rate is very slow, takes minutes

Species: Bos taurus

See also: RDH

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (7)

RDH,

Notes

Expressed in bovine retinal pigment epithelium
Membrane-bound stereospecific 11-cis-RDH
NADH+ as cofactor
Integral membrane protein
Short chain alcohol DH catalyses the final step in 11cRoldehyde biosynthesis

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (11)

RDH,

Notes

Membrane bound enzyme abundant in RPE
91% identity to bovine
Catalyses 11cRol to 11cRAl oxidation
Spans 4,1 kb of genome

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 12q13-14
	in mouse:

Gene Data

mRNA: 1348 bp

Exons: 5

Primers:

Protein Data

Amino acids: 318 AA

Molecular weight	on SDS-PAGE: 32 kDa
	calculated:

Reference: (12)

RDH, all-trans-RDH

Notes

NADPH as cofactor
Expression in retina (PIS, INL, COS!, no ROS), kidney, liver, lung, placenta
Prefers atRal as substrate
Belongs to SDR family
RDH : RHO very low
Cone specific

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 1p36.1
	in mouse:

Gene Data

mRNA: 1.8 kb

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (2)

Rdh10, all-trans-RDH

Notes

Restricted to bovine RPE

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 3 kb

Exons:

Primers:

Protein Data

Amino acids: 341 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (15)

RDH10,

Notes

RPE-specific

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (9)

RDH10, all-trans-RDH

Notes

100% and 98% identity to bovine and mouse RDH10
Predominantly expressed in the microsomal fraction of RPE
Oxidizes atRol to atRAl
NADP is preferred
IP: 7.35
No IR in cytosol
Membrane-bound activity

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids: 341 AA

Molecular weight	on SDS-PAGE: 38 kDa
	calculated:

Reference: (15)

Rdh10, all-trans-RDH

Notes

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids: 341 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (15)

rdh11, all-trans/11-cis RDH

Notes

Immunolocalization in RPE and Müller cells

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (3)

RDH11, all-trans/11-cis RDH

Notes

In RPE cells
Equal to PSDR1
Expressed abundantly in prostate tissue but also in eye, kidney, pancreas, liver, testis, heart, and brain
~30 kb from rdh12
Reaction catalyzed in both directions

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 14q23.3
	in mouse:

Gene Data

gDNA: 13-18 kb

Exons: 7

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (3)

RDH11,

Notes

RPE-specific

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (9)

RDH12, all-trans/11-cis RDH

Notes

In photoreceptors
SDR-specific motifs
- Cofactor-binding site (GXXXGXG)
- catalytic residues (YXXXK)
Preference for NADP/NADPH indicated
ESTs mostly in eye, but also in kidney, brain, skeletal muscle, and stomach
Reaction catalyzed in both directions

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

gDNA: 13-18 kb

Exons: 7

Primers:

Protein Data

Amino acids: 316

Molecular weight	on SDS-PAGE: 35 kDa
	calculated:

Reference: (3)

RDH12,

Notes

Photorezeptor-specific

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (9)

RDH12,

Notes

NADPH is cofactor
Conversion of 11-cis and all-trans retinal to retinol and vice versa

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (5)

rdh12, all-trans/11-cis RDH

Notes

mRNA in-situ hybridization revealed localization in PIS

Species: Monkey

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (3)

rdh12, all-trans/11-cis RDH

Notes

BALB/c: no signal on in-situ mRNA Hybrifization in RPE

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (3)

RDH13,

Notes

Photorezeptor-specific

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (9)

RDH13, all-trans/11-cis RDH

Notes

Preference for NADP/NADPH indicated
SDR-specific motifs<(UL>
Cofactor-binding site (GXXXGXG)
catalytic residues (YXXXK)

ESTs mostly in eye, pancreas, placenta, and lung

Immunolocalization in PIS

Reaction catalyzed in both directions

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 19q13.42
	in mouse:

Gene Data

gDNA: 13-18 kb

Exons: 7

Primers:

Protein Data

Amino acids: 316

Molecular weight	on SDS-PAGE: 36 kDa
	calculated:

Reference: (3)

rdh14, all-trans/11-cis RDH

Notes

Immunolaclization in PNL, COS, and ROS, Müller cells

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids: 336

Molecular weight	on SDS-PAGE: 37 kDa
	calculated:

Reference: (3)

RDH14,

Notes

Photorezeptor-specific

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (9)

RDH14, all-trans/11-cis RDH

Notes

Preference for NADP/NADPH indicated
SDR-specific motifs<(UL>
Cofactor-binding site (GXXXGXG)
catalytic residues (YXXXK)

Many ESTs in brain, kidney, pancreas, and placenta

Minor component of retinal retinoid metabolism

Reaction catalyzed in both directions

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 2p24.1
	in mouse:

Gene Data

gDNA: 6 kb

Exons: 2

Primers:

Protein Data

Amino acids: 336

Molecular weight	on SDS-PAGE: 37 kDa
	calculated:

Reference: (3)

RDH5,

Notes

Abundantly expressed in RPE
N-terminal hydrophobic putative signal sequence mediating cotranslational translocation of parts into ER lumen
Major part of RDH is confined to the lumenal aspect of microsomal membranes
Membrane topology is intrinsic
Lumenal orientation of catalytic domain

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (13)

RDH5, 11-cis-RDH

Notes

Identical expression in RPE and IPE

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (14)

RDH5, 11-cis-RDH

Notes

Pronounced activity with ER and PM preparations
Activity depends on the interaction with other RAl-binding proteins

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (6)

RDH5,

Notes

Copurifies with RGR from RPE microsomes
Prefers NADH as ion source
Does not react with atRAl but with RGR product 11cRAl
Reduction of 11cRAl to 11cRol enhances net photoisomerization of RGR
Catalytic domain is oriented towards the lumen of RPE smooth ER

Species: Bos taurus

See also: RGR

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE: 32 kDa
	calculated:

Reference: (1)

RDH8, all-trans RDH

Notes

Visual cycle enzyme
Identification of flanlking SNPs

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids: 318 AA

Molecular weight	on SDS-PAGE: 32 kDa
	calculated:

Reference: (4)

RDH8, all-trans RDH

Notes

Visual cycle enzyme
In POS tightly associated with plasmamembrane
Utilizes NADPH
all-trans-preference
In rods and cones
Includes invariant YXXXK motif containing the catalytic residue (TYR155)
Highly conserved nucleotide-binding factor motif GXXXGXG at AA12-18
single copy gene

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 19p13
	in mouse:

Gene Data

mRNA: 1.8-2.1-3.4 kb

Exons: 6

Primers:

Protein Data

Amino acids: 318 AA

Molecular weight	on SDS-PAGE: 32 kDa
	calculated:

Reference: (10)

RDH8, all-trans RDH

Notes

SDR
Catalyzes rate-limiting step

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 19p13
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (4)

RDH8,

Notes

Photorezeptor-specific

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (9)

References:

Chen,P., Lee,T.D., and Fong,H.K.W. Interaction between 11-cis-retinol dehydrogenase and RGR opsin. 2001; Invest.Ophthalmol.Vis.Sci. 42: S356 Goto Top
Haeseleer,F., Huang,J., Buczylko,J., Possin,D.E., Lebioda,L., Sokal,I., Palczewski,K., and Saari,J.C. Characterization Of A Putative Photoreceptor All-Trans-Retinol Dehydrogenase (RDH). 1998; Invest.Ophthalmol.Vis.Sci. 39: S423 Goto Top
Haeseleer,F., Jang,G.F., Imanishi,Y., Driessen,C.A., Matsumura,M., Nelson,P.S., and Palczewski,K. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. 2002; J.Biol.Chem. 277: 45537-45546. Goto Top
Han,W., Yip,S.P., Wang,J., and Yap,M.K. Using denaturing HPLC for SNP discovery and genotyping, and establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene. 2004; J Hum Genet. 49: 16-23. Goto Top
Janecke,A.R., Thompson,D.A., Utermann,G., Becker,C., Hubner,C.A., Schmid,E., McHenry,C.L., Nair,A.R., Ruschendorf,F., Heckenlively,J., Wissinger,B., Nurnberg,P., and Gal,A. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 2004; Nat.Genet. 36: 850-854. Goto Top
Mata,J.R., Mata,N.L., and Tsin,A.T. Substrate specificity of retinyl ester hydrolase activity in retinal pigment epithelium. 1998; J.Lipid Res. 39: 604-612. Goto Top
Palczewski,K., Jager,S., Buczylko,J., Crouch,R.K., Bredberg,D.L., Hofmann,K.P., Asson-Batres,M.A., and Saari,J.C. Rod outer segment retinol dehydrogenase: Substrate specificity and role in phototransduction. 1994; Biochemistry. 33: 13741-13750.
Goto Top
Palczewski,K. and Saari,J.C. Activation And Inactivation Steps In The Visual Transduction Pathway. 1997; Current.Opinion.In Neurobiology. 7: 500-504. Goto Top
Perrault,I., Hanein,S., and Kaplan,J. L'amaurose congenitale de Leber: les retinol-deshydrogenases au banc des accuses. 2004; Med.Sci.(Paris). 20: 1066-1068. Goto Top
Rattner,A., Smallwood,P.M., and Nathans,J. Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol. 2000; J.Biol.Chem. 275: 11034-11043.
Goto Top
Simon,A., Hellman,U., Wernstedt,C., and Eriksson,U. The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases. 1995; J.Biol.Chem. 270: 1107-1112.
Goto Top
Simon,A., Lagercrantz,J., Bajalica Lagercrantz,S., and Eriksson,U. Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene. 1996; Genomics. 36: 424-430. Goto Top
Simon,A., Romert,A., and Eriksson,U. Analyzing membrane topology of 11-cis-retinol dehydrogenase. 2000; Methods Enzymol. 316:344-58.: 344-358.
Goto Top
Thumann,G., Kociok,N., Bartz-Schmidt,K.U., Esser,P., Schraermeyer,U., and Heimann,K. Detection of mRNA for proteins involved in retinol metabolism in iris pigment epithelium. 1999; Graefes.Arch.Clin.Exp.Ophthalmol. 237: 1046-1051.
Goto Top
Wu,B.X., Chen,Y., Chen,Y., Fan,J., Rohrer,B., Crouch,R.K., and Ma,J.X. Cloning and characterization of a novel all-trans retinol short-chain dehydrogenase/reductase from the RPE. 2002; Invest.Ophthalmol.Vis.Sci. 43: 3365-3372.
Goto Top

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Contact the editor	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz