RDH5 - retinol dehydrogenase 5 Gene

Also Known as RDH1; 9cRDH; SDR9C5; HSD17B9

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5959

About RDH5

Cytogenetic location: 12q13.2 Genomic coordinates (GRCh38): 12:55,720,393-55,724,705 (from NCBI)

This gene has 11 transcripts (splice variants), 197 orthologues, 25 paralogues and is associated with 4 phenotypes. Biased expression in fat (RPKM 73.0), liver (RPKM 14.5) and 5 other tissues.

Summary

This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual Pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]

RDH5 Products (2)

mRNA Protein Name
NM_001199771.3 NP_001186700.1 retinol dehydrogenase 5 precursor
NM_002905.5 NP_002896.2 retinol dehydrogenase 5 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables all-trans-retinol dehydrogenase (NAD+) activity IDA
IDA: Inferred from direct assay
11675386 GOA
enables androstan-3-alpha,17-beta-diol dehydrogenase activity IDA
IDA: Inferred from direct assay
9931293 GOA
enables androsterone dehydrogenase activity IDA
IDA: Inferred from direct assay
9931293 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
11675386 GOA
Biological Process GO Annotation Evidence References Source
involved in retinoid metabolic process IDA
IDA: Inferred from direct assay
9931293 GOA
involved in steroid metabolic process IDA
IDA: Inferred from direct assay
9931293 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum lumen IDA
IDA: Inferred from direct assay
11675386 GOA
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
11675386 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RDH5 Protein Structure

adh_short

adh_short: short chain dehydrogenase (31 - 193)

  • 0
  • 100
  • 200
  • 300
  • 318 a.a.
Protein Preferred Names Protein Names

retinol dehydrogenase 5

  • 11-cis RDH

Related Diseases

Diseases Alias
Fundus Albipunctatus

  • Retinitis Punctata Albescens

  • Pigmentary Retinal Dystrophy

  • RPA

  • Albipunctate Retinal Dystrophy

  • Lauber'S Disease

  • FALBI

  • Fa
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
Night Blindness

  • Nyctalopia
Oguchi Disease

  • Stationary Night Blindness, Oguchi Type

  • Congenital Stationary Night Blindness, Oguchi Type

  • Oguchi Syndrome

  • Oguchis Disease
Congenital Stationary Night Blindness

  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital
Bothnia Retinal Dystrophy

  • Vasterbotten Dystrophy

  • BRD

  • Dystrophy, Retinal, Bothnia
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Newfoundland Rod-Cone Dystrophy

  • Newfoundland Cone-Rod Dystrophy

  • NFRCD

  • Rod-Cone Dystrophy Newfoundland
Progressive Cone Dystrophy

  • Cone Dystrophy

  • Cone Dystrophy Progressive
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Prolonged Electroretinal Response Suppression

  • Bradyopsia

  • PERRS
Cone-Rod Dystrophy 8

  • CORD8
Cone-Rod Dystrophy 9

  • CORD9

  • Dystrophy, Cone-Rod, Type 9

  • Retinitis Pigmentosa 9
Retinitis Pigmentosa 14

  • RP14

  • Retinitis Pigmentosa Juvenile Tulp1-Related

  • Retinitis Pigmentosa-14

  • Retinitis Pigmentosa, Type 14
Mitochondrial Dna Depletion Syndrome 11

  • MTDPS11

  • Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome

  • Mitochondrial Dna Maintenance Syndrome Due To Mgme1 Deficiency

  • Peo-Myopathy-Emaciation Syndrome

  • Mtdna Maintenance Syndrome Due To Mgme1 Deficiency

  • Mitochondrial Dna Depletion Syndrome, Type 11
Microphthalmia, Syndromic 9

  • Matthew-Wood Syndrome

  • Spear Syndrome

  • Anophthalmia/Microphthalmia And Pulmonary Hypoplasia

  • Microphthalmia, Isolated, With Coloboma 8

  • MCOPS9

  • Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm

  • Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect

  • Pdac

  • Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect

  • Pmd

  • Syndromic Microphthalmia 9

  • Anophthalmia-Pulmonary Hypoplasia Syndrome

  • Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations

  • Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect

  • Microphthalmia Syndromic 9

  • Matthew Wood Syndrome

  • Pdac Syndrome

  • Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome

  • Microphthalmia, Isolated, With Coloboma, 8

  • MCOPCB8

  • Isolated Colobomatous Microphthalmia 8

  • Microphthalmia, Syndromic, 9

  • Anophthalmia With Pulmonary Hypoplasia

  • Microphthalmia Syndromic, Type 9

  • Anophthalmia And Pulmonary Hypoplasia
Myopia

  • Near-Sightedness

  • Short-Sightedness

  • Nearsightedness

  • Nearsighted

  • Near Vision

  • Close Sighted

  • Myopic

  • Short-Sighted

  • Near Sighted
Retinal Degeneration

  • Degeneration Of Retina
Microphthalmia

  • Microphthalmos

  • Isolated Anophthalmia-Microphthalmia Syndrome

  • Isolated Microphthalmia-Anophthalmia-Coloboma

  • Simple Microphthalmos

  • Clinical Anophthalmia

  • Isolated Anophthalmia - Microphthalmia

  • Isolated Pure Microphthalmia

  • Mac Spectrum

  • Microphthalmia-Anophthalmia-Coloboma Spectrum

  • Primitive Anophthalmia

  • Globe Of Eye Small

  • Small Eyeball

  • Hypoplasia Of Eye

  • Isolated Nanophthalmos

  • Rudimentary Eye

  • Dysplasia Of Eye
Macular Degeneration, Age-Related, 1

  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2
Cone Dystrophy

  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3
Stargardt Disease

  • Stargardt Disease 1

  • Stargardt Macular Dystrophy

  • Stargardt Disease-1

  • Juvenile Onset Macular Degeneration

  • Stargardt Macular Degeneration

  • Juvenile Macular Degeneration

  • Macular Dystrophy With Flecks, Type 1

  • Stgd

  • Fundus Flavimaculatus

  • Stargardt 1

  • Stargardts Disease
Vitelliform Macular Dystrophy

  • Best Disease

  • Juvenile-Onset Vitelliform Macular Dystrophy

  • Macular Dystrophy, Vitelliform

  • Best Macular Dystrophy

  • Vitelliform Dystrophy
Refractive Error

  • Refractive Errors
Leber Plus Disease

  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber
Eye Disease

  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11803 RDH5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-W587807 11-cis-Retinol / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus RDH5 VGNC VGNC:69277
Rattus norvegicus RDH5 RGD RGD:1308849
Bos taurus RDH5 VGNC VGNC:33843
Macaca mulatta RDH5 VGNC VGNC:82219
Mus musculus RDH5 MGD MGI:1201412
Canis familiaris RDH5 VGNC VGNC:45454
Others RDH5 NCBI