This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011] See more...

Aliases for RDH10 Gene

Aliases for RDH10 Gene

  • Retinol Dehydrogenase 10 2 3 4 5
  • SDR16C4 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 16C Member 4 3 4
  • Retinol Dehydrogenase 10 (All-Trans) 2 3
  • Short Chain Dehydrogenase/Reductase Family 16C, Member 4 2
  • EC 1.1.1.300 4
  • EC 1.1.1.n2 51
  • EC 1.1.1 51
  • RDH10 5

External Ids for RDH10 Gene

Previous GeneCards Identifiers for RDH10 Gene

  • GC08P074147
  • GC08P073930
  • GC08P074257
  • GC08P074369
  • GC08P074207
  • GC08P069698

Summaries for RDH10 Gene

Entrez Gene Summary for RDH10 Gene

  • This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011]

GeneCards Summary for RDH10 Gene

RDH10 (Retinol Dehydrogenase 10) is a Protein Coding gene. Diseases associated with RDH10 include Ras-Associated Autoimmune Leukoproliferative Disorder and Anterior Segment Dysgenesis 5. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NADP-retinol dehydrogenase activity. An important paralog of this gene is SDR16C5.

UniProtKB/Swiss-Prot Summary for RDH10 Gene

  • Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol.

Additional gene information for RDH10 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RDH10 Gene

Genomics for RDH10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RDH10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J073292 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -0.6 -601 7.6 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 REST TFE3 RFX1 SIX5 IKZF1 RDH10 RPL7 lnc-C8orf89-4 RDH10-AS1 lnc-C8orf89-3 C8orf89
GH08J073745 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.8 +452.0 451999 4 CTCF ZBTB33 PRDM10 LEF1 KDM1A ZNF692 POLR2A BACH1 TARDBP LARP7 STAU2 lnc-UBE2W-1 RDH10 RF00017-7131 ENSG00000258677 RPL7
GH08J073630 Enhancer 0.9 Ensembl ENCODE 19.5 +337.4 337391 3.7 CTCF PKNOX1 SOX6 EP300 HMBOX1 CTBP1 TCF7 NCOR1 SPI1 MAFK RDH10 RPL7 VENTXP6 piR-50437-639 STAU2
GH08J073518 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10 +226.1 226099 5 ZNF629 LEF1 IKZF1 JUND RELA MTA1 ZNF24 TCF12 IKZF2 TRIM22 RDH10 SBSPON ENSG00000254273 lnc-RPL7-8 lnc-RPL7-3 RPL7 STAU2
GH08J073672 Enhancer 0.6 Ensembl 19.6 +378.3 378314 1 CTCF REST RAD21 TRIM22 SMC3 RFX5 ZNF335 ZNF384 ZNF654 ZFP91 RDH10 STAU2 ELOC TMEM70 RPL7 ENSG00000254538 piR-41195-089 lnc-UBE2W-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RDH10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RDH10

Top Transcription factor binding sites by QIAGEN in the RDH10 gene promoter:
  • AML1a
  • En-1
  • FOXO4
  • HNF-3beta
  • Pax-4a
  • Pax-5
  • Sox9

Genomic Locations for RDH10 Gene

Genomic Locations for RDH10 Gene
chr8:73,294,602-73,325,281
(GRCh38/hg38)
Size:
30,680 bases
Orientation:
Plus strand
chr8:74,206,847-74,237,516
(GRCh37/hg19)
Size:
30,670 bases
Orientation:
Plus strand

Genomic View for RDH10 Gene

Genes around RDH10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RDH10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RDH10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RDH10 Gene

Proteins for RDH10 Gene

  • Protein details for RDH10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZV5-RDH10_HUMAN
    Recommended name:
    Retinol dehydrogenase 10
    Protein Accession:
    Q8IZV5

    Protein attributes for RDH10 Gene

    Size:
    341 amino acids
    Molecular mass:
    38087 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RDH10 Gene

Selected DME Specific Peptides for RDH10 Gene

Q8IZV5:
  • TTKAFLP
  • GADKCMYPF
  • RPKEKSVAGQVC
  • YCASKFGV
  • VNCHAHFWTTKAFLP
  • GFHESLSHE
  • VLWAFVLAA
  • TYTCDVGKRE
  • TLVCPYLVDTGMFRGCRIRKEIEPFLPPL
  • ITGAGSGLGRLFALEFARRRA
  • NNAGVVSGHHLLECPDELIERTM
  • TAGVEDYCASKFG

Post-translational modifications for RDH10 Gene

  • Ubiquitination at Lys319
  • Modification sites at PhosphoSitePlus

Other Protein References for RDH10 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for RDH10 Gene

Gene Families for RDH10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RDH10 Gene

InterPro:
Blocks:
  • Short-chain dehydrogenase/reductase SDR
  • Glucose/ribitol dehydrogenase family signature
ProtoNet:

Suggested Antigen Peptide Sequences for RDH10 Gene

GenScript: Design optimal peptide antigens:
  • Retinol dehydrogenase 10 (RDH10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IZV5

UniProtKB/Swiss-Prot:

RDH10_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 RDH10: view

Function for RDH10 Gene

Molecular function for RDH10 Gene

UniProtKB/Swiss-Prot Function:
Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH; Xref=Rhea:RHEA:25033, ChEBI:CHEBI:15378, ChEBI:CHEBI:17336, ChEBI:CHEBI:17898, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.300; Evidence={ECO:0000269|PubMed:12407145};.

Enzyme Numbers (IUBMB) for RDH10 Gene

Phenotypes From GWAS Catalog for RDH10 Gene

Gene Ontology (GO) - Molecular Function for RDH10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004745 retinol dehydrogenase activity IDA 12407145
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA 21873635
GO:0052650 NADP-retinol dehydrogenase activity IEA --
genes like me logo Genes that share ontologies with RDH10: view
genes like me logo Genes that share phenotypes with RDH10: view

Animal Models for RDH10 Gene

MGI Knock Outs for RDH10:

Animal Model Products

CRISPR Products

miRNA for RDH10 Gene

miRTarBase miRNAs that target RDH10

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RDH10

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RDH10 Gene

Localization for RDH10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RDH10 Gene

Microsome membrane. Single-pass membrane protein. Endoplasmic reticulum membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
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 RDH10 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 2
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RDH10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 NOT nucleus IDA 19458327
GO:0005737 cytoplasm IDA 19458327
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid droplet IBA 21873635
genes like me logo Genes that share ontologies with RDH10: view

Pathways & Interactions for RDH10 Gene

genes like me logo Genes that share pathways with RDH10: view

Pathways by source for RDH10 Gene

UniProtKB/Swiss-Prot Q8IZV5-RDH10_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism.

Gene Ontology (GO) - Biological Process for RDH10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0001656 metanephros development IEA --
GO:0001701 in utero embryonic development IEA --
GO:0002138 retinoic acid biosynthetic process IEA --
GO:0007601 visual perception IDA 12407145
genes like me logo Genes that share ontologies with RDH10: view

No data available for SIGNOR curated interactions for RDH10 Gene

Drugs & Compounds for RDH10 Gene

(3) Drugs for RDH10 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra 685
NADP Experimental Pharma 0
NADPH Experimental Pharma 0

(3) Additional Compounds for RDH10 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glucosylceramide (d18:1/20:0)
  • C20 GlcCer
  • GlcCer(D18:1/20:0)
  • N-(Eicosanoyl)-1-beta-glucosyl-sphing-4-enine
  • N-(Eicosanoyl)-1-b-glucosyl-sphing-4-enine
  • N-(Eicosanoyl)-1-β-glucosyl-sphing-4-enine
Retinal
  • (13cis)-Retinal
  • (2Z,4E,6E,8E)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenal
  • 13-cis-Retinaldehyde
  • RETINAL
  • 13Z-Retinal
116-31-4, 564-87-4
genes like me logo Genes that share compounds with RDH10: view

Transcripts for RDH10 Gene

mRNA/cDNA for RDH10 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RDH10

Alternative Splicing Database (ASD) splice patterns (SP) for RDH10 Gene

No ASD Table

Relevant External Links for RDH10 Gene

GeneLoc Exon Structure for
RDH10

Expression for RDH10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RDH10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RDH10 Gene

This gene is overexpressed in Nasal epithelium (53.5) and Lung (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RDH10 Gene



Protein tissue co-expression partners for RDH10 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RDH10

SOURCE GeneReport for Unigene cluster for RDH10 Gene:

Hs.244940

mRNA Expression by UniProt/SwissProt for RDH10 Gene:

Q8IZV5-RDH10_HUMAN
Tissue specificity: Detected in retina, kidney, liver, small intestine, placenta, lung, heart and skeletal muscle.

Evidence on tissue expression from TISSUES for RDH10 Gene

  • Eye(4.5)
  • Nervous system(2.7)
  • Liver(2.5)
  • Kidney(2.5)
  • Intestine(2.2)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with RDH10: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RDH10 Gene

Orthologs for RDH10 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RDH10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RDH10 30 31
  • 99.71 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RDH10 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RDH10 30 31
  • 95.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RDH10 30 31
  • 93.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rdh10 30
  • 92.57 (n)
Mouse
(Mus musculus)
Mammalia Rdh10 30 17 31
  • 92.28 (n)
OneToOne
Chicken
(Gallus gallus)
Aves RDH10 30 31
  • 84.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RDH10 31
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rdh10 30
  • 80.55 (n)
Str.6763 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24399 30
Zebrafish
(Danio rerio)
Actinopterygii rdh10b 31
  • 77 (a)
OneToMany
rdh10a 30 31
  • 74.63 (n)
OneToMany
rdh10 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG15629 31
  • 35 (a)
ManyToMany
CG9265 31
  • 27 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea dhs-29 31
  • 20 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 23 (a)
ManyToMany
TDA5 31
  • 20 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3112 31
  • 45 (a)
OneToOne
Species where no ortholog for RDH10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 RDH10 Gene

ENSEMBL:
Gene Tree for RDH10 (if available)
TreeFam:
Gene Tree for RDH10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RDH10: view image

Paralogs for RDH10 Gene

(5) SIMAP similar genes for RDH10 Gene using alignment to 3 proteins:

  • RDH10_HUMAN
  • E5RHJ9_HUMAN
  • E5RK48_HUMAN
genes like me logo Genes that share paralogs with RDH10: view

Variants for RDH10 Gene

Additional dbSNP identifiers (rs#s) for RDH10 Gene

Structural Variations from Database of Genomic Variants (DGV) for RDH10 Gene

Variant ID Type Subtype PubMed ID
esv2737154 CNV deletion 23290073
nsv1128426 CNV deletion 24896259

Variation tolerance for RDH10 Gene

Residual Variation Intolerance Score: 44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RDH10 Gene

Human Gene Mutation Database (HGMD)
RDH10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RDH10

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RDH10 Gene

Disorders for RDH10 Gene

MalaCards: The human disease database

(9) MalaCards diseases for RDH10 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search RDH10 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RDH10

genes like me logo Genes that share disorders with RDH10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RDH10 Gene

Publications for RDH10 Gene

  1. Cloning and characterization of a novel all-trans retinol short-chain dehydrogenase/reductase from the RPE. (PMID: 12407145) Wu BX … Ma JX (Investigative ophthalmology & visual science 2002) 2 3 4 23
  2. Genomic organization and transcription of the human retinol dehydrogenase 10 (RDH10) gene. (PMID: 14596915) Picozzi P … Ginelli E (FEBS letters 2003) 3 4 23
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3
  4. The 11-cis-retinol dehydrogenase activity of RDH10 and its interaction with visual cycle proteins. (PMID: 19458327) Farjo KM … Ma JX (Investigative ophthalmology & visual science 2009) 3 23
  5. Characterization of key residues and membrane association domains in retinol dehydrogenase 10. (PMID: 19102727) Takahashi Y … Ma JX (The Biochemical journal 2009) 3 23

Products for RDH10 Gene

Sources for RDH10 Gene