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Aliases for RDH5 Gene

Aliases for RDH5 Gene

  • Retinol Dehydrogenase 5 2 3 4 5
  • Short Chain Dehydrogenase/Reductase Family 9C Member 5 3 4
  • Retinol Dehydrogenase 5 (11-Cis/9-Cis) 2 3
  • 9-Cis Retinol Dehydrogenase 3 4
  • 11-Cis RoDH 3 4
  • 11-Cis RDH 3 4
  • HSD17B9 3 4
  • SDR9C5 3 4
  • 9cRDH 3 4
  • RDH1 3 4
  • Short Chain Dehydrogenase/Reductase Family 9C, Member 5 2
  • Retinol Dehydrogenase 5 (11-Cis And 9-Cis) 3
  • 9-Cis-Retinol Specific Dehydrogenase 3
  • 11-Cis Retinol Dehydrogenase 3
  • Retinol Dehydrogenase 1 3
  • EC 56
  • EC 4
  • EC 1.1.1 56

External Ids for RDH5 Gene

Previous HGNC Symbols for RDH5 Gene

  • RDH1

Previous GeneCards Identifiers for RDH5 Gene

  • GC12P056038
  • GC12P056187
  • GC12P055830
  • GC12P054400
  • GC12P056115
  • GC12P053152
  • GC12P056121
  • GC12P056132

Summaries for RDH5 Gene

Entrez Gene Summary for RDH5 Gene

  • 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]

GeneCards Summary for RDH5 Gene

RDH5 (Retinol Dehydrogenase 5) is a Protein Coding gene. Diseases associated with RDH5 include Fundus Albipunctatus and Night Blindness. Among its related pathways are the visual cycle I (vertebrates) and Vitamin A and Carotenoid Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and retinol dehydrogenase activity. An important paralog of this gene is RDH16.

UniProtKB/Swiss-Prot for RDH5 Gene

  • Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all-trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP.

Gene Wiki entry for RDH5 Gene

Additional gene information for RDH5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RDH5 Gene

Genomics for RDH5 Gene

GeneHancer (GH) Regulatory Elements for RDH5 Gene

Promoters and enhancers for RDH5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I055715 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 577.4 -1.7 -1695 7.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 RDH5 BLOC1S1 PIR46127 PIR49113 BAZ2A DNAJC14 RN7SL809P TMEM198B PAN2 CDK2
GH12I055815 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.9 +97.4 97415 3.8 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 IRF4 ORMDL2 SARNP BAZ2A ZC3H10 DNAJC14 RN7SL809P CDK2 STAT2 RDH5 ENSG00000258317
GH12I055925 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.7 +213.0 212971 16.2 FEZF1 YBX1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC ZNF610 GLIS1 PYM1 DGKA BAZ2A DNAJC14 RN7SL809P ZC3H10 TMEM198B RNU6-343P PRIM1 CDK2
GH12I055726 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 6.2 +8.5 8514 5 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 CD63 LOC105369779 BAZ2A RN7SL809P STAT2 PAN2 CDK2 RPL41 TMEM198B ZC3H10
GH12I055722 Enhancer 0.9 ENCODE dbSUPER 13.4 +4.2 4242 3.2 CTCF PKNOX1 SIN3A ZIC2 RAD21 POLR2A VEZF1 SMC3 ZNF143 CREM RDH5 LOC105369779 PIR49113 CD63 ENSG00000258311 BLOC1S1-RDH5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RDH5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RDH5 gene promoter:

Genomic Locations for RDH5 Gene

Genomic Locations for RDH5 Gene
4,376 bases
Plus strand

Genomic View for RDH5 Gene

Genes around RDH5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RDH5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RDH5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RDH5 Gene

Proteins for RDH5 Gene

  • Protein details for RDH5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    11-cis retinol dehydrogenase
    Protein Accession:
    Secondary Accessions:
    • O00179
    • Q8TAI2

    Protein attributes for RDH5 Gene

    318 amino acids
    Molecular mass:
    34979 Da
    Quaternary structure:
    • Homodimer.

neXtProt entry for RDH5 Gene

Selected DME Specific Peptides for RDH5 Gene


Post-translational modifications for RDH5 Gene

Other Protein References for RDH5 Gene

Domains & Families for RDH5 Gene

Gene Families for RDH5 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for RDH5 Gene

Suggested Antigen Peptide Sequences for RDH5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with RDH5: view

Function for RDH5 Gene

Molecular function for RDH5 Gene

GENATLAS Biochemistry:
retinol dehydrogenase 5,11-cis,expressed in retinal pigment epithelium,formerly RDH1
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 7.5-8.0 for 9-cis retinol dehydrogenase activity. {ECO:0000269 PubMed:9115228};
UniProtKB/Swiss-Prot CatalyticActivity:
11-cis-retinol-[retinal-binding-protein] + NAD(+) = 11-cis-retinal-[retinol-binding-protein] + NADH.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by 9-cis-, 13-cis- and all-trans-retinoic acids, with the most potent inhibitor being 13-cis-retinoic acid. Weakly inhibited by oleic acid.
UniProtKB/Swiss-Prot Function:
Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all-trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP.

Enzyme Numbers (IUBMB) for RDH5 Gene

Phenotypes From GWAS Catalog for RDH5 Gene

Gene Ontology (GO) - Molecular Function for RDH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004745 retinol dehydrogenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with RDH5: view
genes like me logo Genes that share phenotypes with RDH5: view

Human Phenotype Ontology for RDH5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RDH5 Gene

MGI Knock Outs for RDH5:

Animal Model Products

CRISPR Products

miRNA for RDH5 Gene

miRTarBase miRNAs that target RDH5

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for RDH5 Gene

Localization for RDH5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RDH5 Gene

Membrane; Peripheral membrane protein. Endoplasmic reticulum lumen.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RDH5 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RDH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0044297 cell body IEA --
genes like me logo Genes that share ontologies with RDH5: view

Pathways & Interactions for RDH5 Gene

genes like me logo Genes that share pathways with RDH5: view

UniProtKB/Swiss-Prot Q92781-RDH1_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism.

Gene Ontology (GO) - Biological Process for RDH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0007601 visual perception TAS,IEA --
GO:0042572 retinol metabolic process IEA --
GO:0050896 response to stimulus IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with RDH5: view

No data available for SIGNOR curated interactions for RDH5 Gene

Drugs & Compounds for RDH5 Gene

(3) Drugs for RDH5 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Target 529
NADH Approved Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(5) Additional Compounds for RDH5 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 11-cis-Vitamin A alcohol
  • cis-11-Retinol
  • 11-cis-Retinal
  • cis-11-Retinal
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
  • 3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-Nonatetraenal
  • All-E-Retinal
  • All-epsilon-Retinal
  • All-trans-Retinal
  • All-trans-Retinaldehyde
genes like me logo Genes that share compounds with RDH5: view

Transcripts for RDH5 Gene

Unigene Clusters for RDH5 Gene

Retinol dehydrogenase 5 (11-cis/9-cis):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RDH5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5
SP1: - -
SP2: - -
SP3: - -
SP4: - - - -

Relevant External Links for RDH5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RDH5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RDH5 Gene

mRNA differential expression in normal tissues according to GTEx for RDH5 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x5.0) and Adipose - Subcutaneous (x4.5).

Protein differential expression in normal tissues from HIPED for RDH5 Gene

This gene is overexpressed in Adipocyte (53.8) and Serum (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RDH5 Gene

Protein tissue co-expression partners for RDH5 Gene

NURSA nuclear receptor signaling pathways regulating expression of RDH5 Gene:


SOURCE GeneReport for Unigene cluster for RDH5 Gene:


mRNA Expression by UniProt/SwissProt for RDH5 Gene:

Tissue specificity: Abundant in the retinal pigment epithelium. Expressed at high levels in mammary tissue, kidney and testis, and at lower levels in liver, heart, adrenal gland, lung, pancreas and skeletal muscle.

Evidence on tissue expression from TISSUES for RDH5 Gene

  • Nervous system(4.4)
  • Blood(4)
  • Eye(2.9)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RDH5 Gene

Germ Layers:
  • ectoderm
  • nervous
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • peripheral nervous system
genes like me logo Genes that share expression patterns with RDH5: view

Primer Products

Orthologs for RDH5 Gene

This gene was present in the common ancestor of animals.

Orthologs for RDH5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RDH5 33
  • 99.69 (n)
(Bos Taurus)
Mammalia RDH5 33 34
  • 89.89 (n)
(Canis familiaris)
Mammalia RDH5 33 34
  • 89.41 (n)
(Mus musculus)
Mammalia Rdh5 33 16 34
  • 86.06 (n)
(Rattus norvegicus)
Mammalia Rdh5 33
  • 85.78 (n)
(Ornithorhynchus anatinus)
Mammalia RDH5 34
  • 49 (a)
(Gallus gallus)
Aves RDH5 33 34
  • 69.34 (n)
(Anolis carolinensis)
Reptilia RDH5 34
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rdh5 33
  • 62.78 (n)
Str.15773 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.26338 33
(Danio rerio)
Actinopterygii rdh5 33 34
  • 57.62 (n)
(Caenorhabditis elegans)
Secernentea F55E10.6 35
  • 35 (a)
Species where no ortholog for RDH5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RDH5 Gene

Gene Tree for RDH5 (if available)
Gene Tree for RDH5 (if available)

Paralogs for RDH5 Gene

Paralogs for RDH5 Gene

(8) SIMAP similar genes for RDH5 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with RDH5: view

Variants for RDH5 Gene

Sequence variations from dbSNP and Humsavar for RDH5 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs104894373 pathogenic, Fundus albipunctatus, autosomal recessive, Fundus albipunctatus (FALBI) [MIM:136880] 55,721,908(+) T/G coding_sequence_variant, missense_variant
rs104894374 pathogenic, Fundus albipunctatus, autosomal recessive, Fundus albipunctatus (FALBI) [MIM:136880] 55,721,847(+) C/A/T coding_sequence_variant, missense_variant, synonymous_variant
rs111033593 pathogenic, Fundus albipunctatus, autosomal recessive, Fundus albipunctatus (FALBI) [MIM:136880] 55,724,468(+) G/C coding_sequence_variant, missense_variant
rs1136125 likely-benign, Fundus albipunctatus 55,721,449(+) G/A/T coding_sequence_variant, missense_variant
rs114663094 likely-benign, Fundus albipunctatus 55,720,397(+) C/T 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for RDH5 Gene

Variant ID Type Subtype PubMed ID
nsv469410 CNV loss 19166990
nsv525231 CNV loss 19592680
nsv559004 CNV loss 21841781
nsv559005 CNV loss 21841781
nsv832423 CNV gain 17160897

Variation tolerance for RDH5 Gene

Residual Variation Intolerance Score: 59.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RDH5 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RDH5 Gene

Disorders for RDH5 Gene

MalaCards: The human disease database

(11) MalaCards diseases for RDH5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fundus albipunctatus
  • fa
night blindness
hereditary night blindness
  • congenital night blindness
congenital stationary night blindness
  • congenital essential nyctalopia
cone-rod dystrophy 6
  • retinitis pigmentosa 6
- elite association - COSMIC cancer census association via MalaCards
Search RDH5 in MalaCards View complete list of genes associated with diseases


  • Fundus albipunctatus (FALBI) [MIM:136880]: A form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269 PubMed:10369264, ECO:0000269 PubMed:10617778, ECO:0000269 PubMed:11053295, ECO:0000269 PubMed:11053296, ECO:0000269 PubMed:11078852, ECO:0000269 PubMed:11470705, ECO:0000269 PubMed:11675386, ECO:0000269 PubMed:12788147, ECO:0000269 PubMed:12967826, ECO:0000269 PubMed:25820994}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for RDH5 Gene

fundus albipunctatus,both autosomal recessive and autosomal dominant,characterized by numerous small subretinal white spots,normal retinal vessels but delayed dark adaptation

Additional Disease Information for RDH5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RDH5: view

Publications for RDH5 Gene

  1. Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. (PMID: 11675386) Lidén M … Eriksson U (The Journal of biological chemistry 2001) 3 4 22 44 58
  2. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. (PMID: 11053295) Nakamura M … Miyake Y (Investigative ophthalmology & visual science 2000) 3 4 22 44 58
  3. A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. (PMID: 12967826) Yamamoto H … Negi A (American journal of ophthalmology 2003) 3 4 22 58
  4. Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene. (PMID: 12860821) Sekiya K … Abe H (Archives of ophthalmology (Chicago, Ill. : 1960) 2003) 3 22 44 58
  5. Macular dystrophy in a Japanese family with fundus albipunctatus. (PMID: 12788147) Hotta K … Hida T (American journal of ophthalmology 2003) 3 4 22 58

Products for RDH5 Gene

Sources for RDH5 Gene

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