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Aliases for RDH10 Gene

Aliases for RDH10 Gene

  • Retinol Dehydrogenase 10 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 16C Member 4 3 4
  • Retinol Dehydrogenase 10 (All-Trans) 2 3
  • SDR16C4 3 4
  • Short Chain Dehydrogenase/Reductase Family 16C, Member 4 2
  • EC 1.1.1.300 4
  • EC 1.1.1.n2 61
  • EC 1.1.1 61

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 Total Anomalous Pulmonary Venous Return. Among its related pathways are the visual cycle I (vertebrates) and Metabolism of fat-soluble vitamins. 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 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RDH10 Gene

Genomics for RDH10 Gene

Regulatory Elements for RDH10 Gene

Enhancers for RDH10 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G073519 1.5 FANTOM5 Ensembl ENCODE 10 +226.2 226179 2.3 ATF1 ARNT TCF12 GATA2 CBX5 FOS NCOA1 JUNB TBX21 MBD2 RDH10 SBSPON ENSG00000254273 ENSG00000253383
GH08G073630 0.7 ENCODE 19.5 +337.4 337392 3.7 CTCF PKNOX1 ESRRA ATF1 TAL1 RAD21 TCF12 NCOR1 MAFK NFE2L2 RDH10 RPL7 VENTXP6 ENSG00000253383
GH08G073504 1.2 Ensembl ENCODE dbSUPER 10.4 +210.0 209999 0.4 CTCF ZNF654 GTF2E2 TRIM22 ZNF384 REST RAD21 FOXA1 FOXK2 ZSCAN5C RPL7 RDH10 ENSG00000254273 GC08M073453
GH08G073340 1.1 ENCODE dbSUPER 10.7 +46.6 46634 1.2 HDGF LEF1 PKNOX1 ESRRA FOXA2 CBX3 ETV1 BACH1 CEBPG RARA RPL7 RDH10 RDH10-AS1 GC08P073298
GH08G073313 1 ENCODE dbSUPER 11.7 +20.0 20042 1.8 PKNOX1 RFX1 L3MBTL2 NR2F1 BHLHE40 JUNB RAD21 EP300 TFDP1 GATA3 RDH10-AS1 RDH10 ENSG00000253339 GC08P073298
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RDH10 on UCSC Golden Path with GeneCards custom track

Promoters for RDH10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000225860 98 4201 HDGF PKNOX1 FOXA2 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for RDH10 Gene

Chromosome:
8
Start:
73,294,602 bp from pter
End:
73,325,285 bp from pter
Size:
30,684 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 isoforms=319
  • Modification sites at PhosphoSitePlus

Other Protein References for RDH10 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for RDH10 Gene

Gene Families for RDH10 Gene

Suggested Antigen Peptide Sequences for RDH10 Gene

GenScript: Design optimal peptide antigens:

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 CatalyticActivity:
All-trans-retinol + NADP(+) = all-trans-retinal + NADPH.
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.

Enzyme Numbers (IUBMB) for RDH10 Gene

Gene Ontology (GO) - Molecular Function for RDH10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004745 retinol dehydrogenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0052650 NADP-retinol dehydrogenase activity IEA,TAS --
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

Inhibitory RNA Products

Clone Products

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
golgi apparatus 1

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:0016020 membrane IEA --
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

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

(1) 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 492

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glucosylceramide (d18:1/18:0)
  • 1-O-b-D-Glucopyranosyl-Ceramide
  • 1-O-beta-delta-Glucopyranosyl-Ceramide
  • Ganglioside GL1a
  • Gaucher cerebroside
  • Glc-beta1->1'Cer
85305-87-9
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
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 RDH10: view

Transcripts for RDH10 Gene

Unigene Clusters for RDH10 Gene

Retinol dehydrogenase 10 (all-trans):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for RDH10 Gene

GeneLoc Exon Structure for
RDH10
ECgene alternative splicing isoforms for
RDH10

Expression for RDH10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for RDH10 Gene



Protein tissue co-expression partners for RDH10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RDH10 Gene:

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(4.4)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with RDH10: view

Primer Products

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 34 35
  • 99.71 (n)
oppossum
(Monodelphis domestica)
Mammalia RDH10 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RDH10 34 35
  • 95.41 (n)
cow
(Bos Taurus)
Mammalia RDH10 34 35
  • 93.55 (n)
rat
(Rattus norvegicus)
Mammalia Rdh10 34
  • 92.57 (n)
mouse
(Mus musculus)
Mammalia Rdh10 34 16 35
  • 92.28 (n)
chicken
(Gallus gallus)
Aves RDH10 34 35
  • 84.37 (n)
lizard
(Anolis carolinensis)
Reptilia RDH10 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rdh10 34
  • 80.55 (n)
Str.6763 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24399 34
zebrafish
(Danio rerio)
Actinopterygii rdh10b 35
  • 77 (a)
OneToMany
rdh10a 34 35
  • 74.63 (n)
rdh10 34
fruit fly
(Drosophila melanogaster)
Insecta CG15629 35
  • 35 (a)
ManyToMany
CG9265 35
  • 27 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dhs-29 35
  • 20 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 23 (a)
ManyToMany
TDA5 35
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3112 35
  • 45 (a)
OneToOne
Species where no ortholog for RDH10 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)
  • 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 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)

Paralogs for RDH10 Gene

Paralogs for RDH10 Gene

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

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

Variants for RDH10 Gene

Sequence variations from dbSNP and Humsavar for RDH10 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000003715 -- 73,300,910(+) CATCT(A/G)AGGTT intron-variant
rs1000135255 -- 73,317,920(+) GTCCC(C/T)CACCC intron-variant
rs1000150814 -- 73,310,971(+) ACAGC(C/T)GTGAC intron-variant, nc-transcript-variant
rs1000246071 -- 73,311,263(+) TGGCA(A/G)TCAGG intron-variant, nc-transcript-variant
rs1000264478 -- 73,320,697(+) GAGCT(C/T)CTGAC intron-variant

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)

Relevant External Links for RDH10 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RDH10 Gene

Disorders for RDH10 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RDH10 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
total anomalous pulmonary venous return
  • total anomalous pulmonary venous return 1
- elite association - COSMIC cancer census association via MalaCards
Search RDH10 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RDH10

Genetic Association Database (GAD)
RDH10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 B.X. … Ma J.-X. (Invest. Ophthalmol. Vis. Sci. 2002) 2 3 4 22 64
  2. Genomic organization and transcription of the human retinol dehydrogenase 10 (RDH10) gene. (PMID: 14596915) Picozzi P. … Ginelli E. (FEBS Lett. 2003) 3 4 22 64
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3 64
  4. Characterization of key residues and membrane association domains in retinol dehydrogenase 10. (PMID: 19102727) Takahashi Y. … Ma J.X. (Biochem. J. 2009) 3 22 64
  5. The 11-cis-retinol dehydrogenase activity of RDH10 and its interaction with visual cycle proteins. (PMID: 19458327) Farjo K.M. … Ma J.X. (Invest. Ophthalmol. Vis. Sci. 2009) 3 22 64

Products for RDH10 Gene

Sources for RDH10 Gene

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