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Aliases for RDH5 Gene

Aliases for RDH5 Gene

  • Retinol Dehydrogenase 5 2 3 4
  • Retinol Dehydrogenase 5 (11-Cis/9-Cis) 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 9C Member 5 3 4
  • 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 3
  • Short Chain Dehydrogenase/Reductase Family 9C 2
  • Retinol Dehydrogenase 5 (11-Cis And 9-Cis) 3
  • 9-Cis-Retinol Specific Dehydrogenase 3
  • Retinol Dehydrogenase 1 3
  • EC 1.1.1.105 63
  • EC 1.1.1.315 4
  • Member 5 2
  • EC 1.1.1 63

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 rdh5-related fundus albipunctatus. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. GO annotations related to this gene include oxidoreductase activity and retinol dehydrogenase activity. An important paralog of this gene is HSD11B2.

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

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

Genomics for RDH5 Gene

Regulatory Elements for RDH5 Gene

Promoters for RDH5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RDH5 on UCSC Golden Path with GeneCards custom track

Genomic Location for RDH5 Gene

Chromosome:
12
Start:
55,720,367 bp from pter
End:
55,724,742 bp from pter
Size:
4,376 bases
Orientation:
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:
    Q92781-RDH1_HUMAN
    Recommended name:
    11-cis retinol dehydrogenase
    Protein Accession:
    Q92781
    Secondary Accessions:
    • O00179
    • Q8TAI2

    Protein attributes for RDH5 Gene

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

neXtProt entry for RDH5 Gene

Proteomics data for RDH5 Gene at MOPED

Selected DME Specific Peptides for RDH5 Gene

Post-translational modifications for RDH5 Gene

  • Glycosylation at Asn 160
  • Modification sites at PhosphoSitePlus

Other Protein References for RDH5 Gene

Antibody Products

Domains & Families for RDH5 Gene

Gene Families for RDH5 Gene

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

Q92781

UniProtKB/Swiss-Prot:

RDH1_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
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

Gene Ontology (GO) - Molecular Function for RDH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004745 retinol dehydrogenase activity TAS --
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

miRNA for RDH5 Gene

miRTarBase miRNAs that target RDH5

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

COMPARTMENTS
Jensen Localization Image for RDH5 Gene COMPARTMENTS Subcellular localization image for RDH5 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for RDH5 Gene

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 IEA --
GO:0050896 response to stimulus 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 Nutra Target 413
NADH 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-Retinol
  • 11-cis-Vitamin A alcohol
  • cis-11-Retinol
22737-96-8
11-cis-Retinaldehyde
  • 11-cis-Retinal
  • cis-11-Retinal
564-87-4
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
Retinal
  • 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
116-31-4
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:

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
RDH5
ECgene alternative splicing isoforms for
RDH5

Expression for RDH5 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for RDH5 Gene Hs.600940

mRNA Expression by UniProt/SwissProt for RDH5 Gene

Q92781-RDH1_HUMAN
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.
genes like me logo Genes that share expression patterns with RDH5: view

Protein tissue co-expression partners for RDH5 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia RDH5 35
  • 89.89 (n)
  • 91 (a)
RDH5 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RDH5 35
  • 89.41 (n)
  • 90.57 (a)
RDH5 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rdh5 35
  • 86.06 (n)
  • 86.62 (a)
Rdh5 16
Rdh5 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RDH5 35
  • 99.69 (n)
  • 99.37 (a)
rat
(Rattus norvegicus)
Mammalia Rdh5 35
  • 85.78 (n)
  • 86.29 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia RDH5 36
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves RDH5 35
  • 69.34 (n)
  • 66.56 (a)
RDH5 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RDH5 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rdh5 35
  • 62.78 (n)
  • 58.67 (a)
Str.15773 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.26338 35
zebrafish
(Danio rerio)
Actinopterygii rdh5 35
  • 57.62 (n)
  • 55.67 (a)
rdh5 36
  • 49 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F55E10.6 37
  • 35 (a)
Species with no ortholog for RDH5:
  • 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

ENSEMBL:
Gene Tree for RDH5 (if available)
TreeFam:
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 Sequence Context AA Info Type
VAR_009272 -
VAR_009273 Fundus albipunctatus (FALBI)
VAR_009274 Fundus albipunctatus (FALBI)
VAR_016814 Fundus albipunctatus (FALBI)
VAR_016815 Fundus albipunctatus (FALBI)

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

Variant ID Type Subtype PubMed ID
nsv525231 CNV Loss 19592680
nsv832423 CNV Gain 17160897
nsv469410 CNV Loss 19166990

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)

Relevant External Links for RDH5 Gene

HapMap Linkage Disequilibrium report
RDH5
Human Gene Mutation Database (HGMD)
RDH5

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

Disorders for RDH5 Gene

MalaCards: The human disease database

(13) MalaCards diseases for RDH5 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fundus albipunctatus
  • retinitis punctata albescens
rdh5-related fundus albipunctatus
night blindness
hereditary night blindness
  • congenital night blindness
congenital stationary night blindness
  • congenital essential nyctalopia
- elite association - COSMIC cancer census association via MalaCards
Search RDH5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RDH1_HUMAN
  • 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:11078852, ECO:0000269 PubMed:11470705, 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

Relevant External Links for RDH5

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

Publications for RDH5 Gene

  1. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. (PMID: 11053295) Nakamura M. … Miyake Y. (Invest. Ophthalmol. Vis. Sci. 2000) 3 4 23 48 67
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  3. Diagnosis in a patient with fundus albipunctatus and atypical fundus changes. (PMID: 18949499) Hajali M. … Lindeman M. (Doc Ophthalmol 2009) 3 23
  4. Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa. (PMID: 18363170) Wang C. … Minoshima S. (Ophthalmic Genet. 2008) 3 23
  5. Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. (PMID: 17476461) Iannaccone A. … Dryja T.P. (Doc Ophthalmol 2007) 3 23

Products for RDH5 Gene

Sources for RDH5 Gene

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