The protein encoded by this gene is an NADPH-dependent retinal reductase and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity. [provided by RefSeq, Nov 2011] See more...

Aliases for RDH11 Gene

Aliases for RDH11 Gene

  • Retinol Dehydrogenase 11 2 3 4 5
  • Androgen-Regulated Short-Chain Dehydrogenase/Reductase 1 2 3 4
  • ARSDR1 2 3 4
  • SDR7C1 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 7C, Member 1 2 3
  • Retinol Dehydrogenase 11 (All-Trans/9-Cis/11-Cis) 2 3
  • HCV Core-Binding Protein HCBP12 3 4
  • Retinal Reductase 1 3 4
  • PSDR1 3 4
  • MDT1 2 3
  • Short Chain Dehydrogenase/Reductase Family 7C Member 1 4
  • Retinol Dehydrogenase 11 (All-Trans And 9-Cis) 2
  • Prostate Short-Chain Dehydrogenase Reductase 1 3
  • Prostate Short-Chain Dehydrogenase/Reductase 1 4
  • EC 1.1.1.300 4
  • HCBP12 3
  • RDJCSS 3
  • CGI82 3
  • RALR1 3
  • SCALD 3
  • RDH11 5
  • RalR1 4

External Ids for RDH11 Gene

Previous GeneCards Identifiers for RDH11 Gene

  • GC14M061937
  • GC14M066133
  • GC14M067213
  • GC14M068143
  • GC14M048313

Summaries for RDH11 Gene

Entrez Gene Summary for RDH11 Gene

  • The protein encoded by this gene is an NADPH-dependent retinal reductase and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity. [provided by RefSeq, Nov 2011]

GeneCards Summary for RDH11 Gene

RDH11 (Retinol Dehydrogenase 11) is a Protein Coding gene. Diseases associated with RDH11 include Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome and Fundus Albipunctatus. 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 retinol dehydrogenase activity. An important paralog of this gene is RDH12.

UniProtKB/Swiss-Prot Summary for RDH11 Gene

  • Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol, and to a lesser extent on 13-cis-retinol (PubMed:12226107, PubMed:12036956, PubMed:29410696). Exhibits a low reductive activity towards unsaturated medium-chain aldehydes such as cis -6-nonenal and no activity toward nonanal or 4-hydroxy-nonenal (PubMed:15865448). Has no dehydrogenase activity towards steroid (PubMed:12226107, PubMed:12036956).

Gene Wiki entry for RDH11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RDH11 Gene

Genomics for RDH11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RDH11 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
GH14J067692 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 613.3 +1.2 1159 3.5 CEBPG SP1 CREB1 GATAD2A PRDM10 TFE3 RFX1 SIX5 POLR2A BACH1 RDH11 lnc-RDH11-4-001 lnc-RDH11-4-002 PIGH ARG2 RDH12 ENSG00000259502 PLEK2 ENSG00000258466
GH14J067690 Promoter 0.3 EPDnew 600.4 +5.5 5475 0.1 ENSG00000258466 RDH11 lnc-RDH11-4-001 lnc-VTI1B-1 VTI1B
GH14J067673 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 13.1 +21.5 21477 3 SP1 CREB1 SIX5 IKZF1 ZNF692 POLR2A BACH1 LARP7 ZNF143 PHF21A lnc-ARG2-9 VTI1B PIGH RDH11 RDH12 RN7SL369P ZFYVE26 ARG2 EIF2S1 ENSG00000258466
GH14J067635 Enhancer 1.1 Ensembl ENCODE 13.3 +59.2 59208 2 LEF1 IKZF1 JUND DDX20 PHF21A ZIC2 PKNOX1 MTA1 NR2C1 ZNF24 RDH11 ARG2 RDH12 ENSG00000286861 VTI1B
GH14J067666 Enhancer 0.7 ENCODE 12.8 +28.8 28765 1.8 CTCF ZNF143 REST RAD21 IKZF2 TRIM22 SOX13 DPF2 RUNX3 ZNF316 ARG2 ENSG00000201529 RDH11 PIGH RDH12 RN7SL369P VTI1B RF00001-115 ENSG00000258466 lnc-RDH11-4-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RDH11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RDH11

Top Transcription factor binding sites by QIAGEN in the RDH11 gene promoter:
  • AREB6
  • Arnt
  • c-Myb
  • MyoD
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • STAT3

Genomic Locations for RDH11 Gene

Genomic Locations for RDH11 Gene
chr14:67,676,800-67,695,793
(GRCh38/hg38)
Size:
18,994 bases
Orientation:
Minus strand
chr14:68,143,517-68,162,531
(GRCh37/hg19)
Size:
19,015 bases
Orientation:
Minus strand

Genomic View for RDH11 Gene

Genes around RDH11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RDH11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RDH11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RDH11 Gene

Proteins for RDH11 Gene

  • Protein details for RDH11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TC12-RDH11_HUMAN
    Recommended name:
    Retinol dehydrogenase 11
    Protein Accession:
    Q8TC12
    Secondary Accessions:
    • A6NDK3
    • A8K062
    • B2RB26
    • B4DDW0
    • Q0QD40
    • Q6IAH5
    • Q9NRW0
    • Q9Y391

    Protein attributes for RDH11 Gene

    Size:
    318 amino acids
    Molecular mass:
    35386 Da
    Quaternary structure:
    • Interacts with SELENOF.
    Miscellaneous:
    • Shows clear specificity for the pro-S hydrogen on C4 of NADPH and the pro-R hydrogen on C15 of retinols.

    Alternative splice isoforms for RDH11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RDH11 Gene

Post-translational modifications for RDH11 Gene

No data available for DME Specific Peptides for RDH11 Gene

Domains & Families for RDH11 Gene

Gene Families for RDH11 Gene

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

Protein Domains for RDH11 Gene

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

Suggested Antigen Peptide Sequences for RDH11 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ32633 fis, clone SYNOV2000171, highly similar to Retinol dehydrogenase 11 (EC 1.1.1.-) (B3KQ19_HUMAN)
  • cDNA FLJ53708, highly similar to Retinol dehydrogenase 11 (EC 1.1.1.-) (B4DDW0_HUMAN)
  • Retinol dehydrogenase 11 (Q0QD40_HUMAN)
  • Retinal reductase 1 (RDH11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TC12

UniProtKB/Swiss-Prot:

RDH11_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 RDH11: view

Function for RDH11 Gene

Molecular function for RDH11 Gene

UniProtKB/Swiss-Prot Function:
Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol, and to a lesser extent on 13-cis-retinol (PubMed:12226107, PubMed:12036956, PubMed:29410696). Exhibits a low reductive activity towards unsaturated medium-chain aldehydes such as cis -6-nonenal and no activity toward nonanal or 4-hydroxy-nonenal (PubMed:15865448). Has no dehydrogenase activity towards steroid (PubMed:12226107, PubMed:12036956).
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:12036956, ECO:0000269|PubMed:12226107, ECO:0000269|PubMed:29410696};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=11-cis-retinol + NADP(+) = 11-cis-retinal + H(+) + NADPH; Xref=Rhea:RHEA:54912, ChEBI:CHEBI:15378, ChEBI:CHEBI:16066, ChEBI:CHEBI:16302, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence={ECO:0000269|PubMed:12036956, ECO:0000269|PubMed:12226107};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=9-cis-retinol + NADP(+) = 9-cis-retinal + H(+) + NADPH; Xref=Rhea:RHEA:54916, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:78272, ChEBI:CHEBI:78273; Evidence={ECO:0000269|PubMed:12036956, ECO:0000269|PubMed:12226107};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=13-cis-retinol + NADP(+) = 13-cis-retinal + H(+) + NADPH; Xref=Rhea:RHEA:54920, ChEBI:CHEBI:15378, ChEBI:CHEBI:45479, ChEBI:CHEBI:45487, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence={ECO:0000269|PubMed:12036956, ECO:0000269|PubMed:12226107};.
UniProtKB/Swiss-Prot Induction:
By androgens in prostate cancer cells.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.23 uM for NADPH {ECO:0000269|PubMed:12036956}; KM=0.8 uM for NADP {ECO:0000269|PubMed:12036956}; KM=0.5 uM for all-trans-retinal {ECO:0000269|PubMed:12036956}; KM=0.62 uM for 13-cis-retinal {ECO:0000269|PubMed:12036956}; KM=0.19 uM for 9-cis-retinal {ECO:0000269|PubMed:12036956}; KM=1.3 uM for all-trans-retinol {ECO:0000269|PubMed:12036956}; KM=5 uM for (Z)-non-6-enol {ECO:0000269|PubMed:15865448}; Vmax=18 nmol/min/mg enzyme with all-trans-retinal as substrate {ECO:0000269|PubMed:12036956}; Vmax=7 nmol/min/mg enzyme with 13-cis-retinal as substrate {ECO:0000269|PubMed:12036956}; Vmax=1.6 nmol/min/mg enzyme with 9-cis-retinal as substrate {ECO:0000269|PubMed:12036956}; Vmax=0.95 nmol/min/mg enzyme with all-trans-retinol as substrate {ECO:0000269|PubMed:12036956}; Vmax=19 nmol/min/mg enzyme with (Z)-non-6-enol {ECO:0000269|PubMed:15865448}; Note=Vmax is measured per mg microsomal protein.;
UniProtKB/Swiss-Prot EnzymeRegulation:
SELENOF decreases the retinol dehydrogenase activity.

Enzyme Numbers (IUBMB) for RDH11 Gene

Gene Ontology (GO) - Molecular Function for RDH11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004745 retinol dehydrogenase activity ISS --
GO:0005515 protein binding IPI 29410696
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor TAS --
GO:0052650 NADP-retinol dehydrogenase activity IEA,IDA 12226107
genes like me logo Genes that share ontologies with RDH11: view
genes like me logo Genes that share phenotypes with RDH11: view

Human Phenotype Ontology for RDH11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RDH11 Gene

MGI Knock Outs for RDH11:

Animal Model Products

CRISPR Products

miRNA for RDH11 Gene

miRTarBase miRNAs that target RDH11

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RDH11

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for RDH11 Gene

Localization for RDH11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RDH11 Gene

Endoplasmic reticulum membrane. Single-pass type II 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 RDH11 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
lysosome 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for RDH11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RDH11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RDH11 Gene

Pathways & Interactions for RDH11 Gene

genes like me logo Genes that share pathways with RDH11: view

Pathways by source for RDH11 Gene

1 GeneGo (Thomson Reuters) pathway for RDH11 Gene
  • Retinol metabolism
1 Qiagen pathway for RDH11 Gene
  • Visual Cycle in Retinal Rods

UniProtKB/Swiss-Prot Q8TC12-RDH11_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism.

Gene Ontology (GO) - Biological Process for RDH11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process IDA,TAS --
GO:0042572 retinol metabolic process ISS --
GO:0042574 retinal metabolic process IDA 12807874
GO:0055114 oxidation-reduction process IEA --
GO:0110095 cellular detoxification of aldehyde IDA 12807874
genes like me logo Genes that share ontologies with RDH11: view

No data available for SIGNOR curated interactions for RDH11 Gene

Drugs & Compounds for RDH11 Gene

(3) Drugs for RDH11 Gene - From: DrugBank, HMDB, and Novoseek

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

(1) Additional Compounds for RDH11 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 RDH11: view

Transcripts for RDH11 Gene

mRNA/cDNA for RDH11 Gene

2 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
11 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 RDH11

Alternative Splicing Database (ASD) splice patterns (SP) for RDH11 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8 ^ 9a ·
SP1: - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - -
SP6: - - - - - -
SP7: - - - - -
SP8: - - - - - - - - - - - -
SP9: - - - - - - -
SP10: - -
SP11:
SP12: - - - - - - - - - - - - - - - - - -
SP13: -

ExUns: 9b · 9c · 9d · 9e · 9f · 9g
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for RDH11 Gene

GeneLoc Exon Structure for
RDH11

Expression for RDH11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RDH11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RDH11 Gene

This gene is overexpressed in Nasal epithelium (9.3), Bone (9.1), and Retina (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RDH11 Gene



Protein tissue co-expression partners for RDH11 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RDH11

SOURCE GeneReport for Unigene cluster for RDH11 Gene:

Hs.719925

mRNA Expression by UniProt/SwissProt for RDH11 Gene:

Q8TC12-RDH11_HUMAN
Tissue specificity: Predominantly expressed in the epithelial cells of prostate, in both basal and luminal secretory cell populations. Expressed at low levels in spleen, thymus, testis, ovary, small intestine, colon, peripherical blood leukocytes, kidney, adrenal gland and fetal liver. Not detected in prostatic fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes.

Evidence on tissue expression from TISSUES for RDH11 Gene

  • Nervous system(5)
  • Liver(4.7)
  • Eye(4.6)
  • Muscle(4.4)
  • Kidney(3.8)
  • Skin(3.7)
  • Lung(3.3)
  • Pancreas(2.7)
  • Intestine(2.7)
  • Heart(2.5)
  • Blood(2.2)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RDH11 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
General:
  • skin
genes like me logo Genes that share expression patterns with RDH11: view

No data available for mRNA differential expression in normal tissues for RDH11 Gene

Orthologs for RDH11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RDH11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RDH11 30 31
  • 99.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RDH11 30
  • 89.15 (n)
Cow
(Bos Taurus)
Mammalia RDH11 30
  • 87.15 (n)
Rat
(Rattus norvegicus)
Mammalia Rdh11 30
  • 83.28 (n)
Mouse
(Mus musculus)
Mammalia Rdh11 30 17 31
  • 83.06 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 77 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 67 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 63 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 66 (a)
ManyToMany
-- 31
  • 65 (a)
ManyToMany
-- 31
  • 64 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii rdh12 31
  • 63 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG2065 30 31
  • 56.36 (n)
ManyToMany
CG2070 31
  • 48 (a)
ManyToMany
CG2064 31
  • 46 (a)
ManyToMany
CG30495 31
  • 44 (a)
ManyToMany
CG30491 31
  • 44 (a)
ManyToMany
CG3842 31
  • 39 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea dhs-22 30
  • 44.6 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G02540 30
  • 52.29 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0151700 30
  • 50.6 (n)
Species where no ortholog for RDH11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for RDH11 Gene

ENSEMBL:
Gene Tree for RDH11 (if available)
TreeFam:
Gene Tree for RDH11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RDH11: view image

Paralogs for RDH11 Gene

(8) SIMAP similar genes for RDH11 Gene using alignment to 7 proteins:

  • RDH11_HUMAN
  • B3KQ19_HUMAN
  • G3V234_HUMAN
  • G3V2G6_HUMAN
  • G3V3K0_HUMAN
  • G3V510_HUMAN
  • H0YJ46_HUMAN

Pseudogenes.org Pseudogenes for RDH11 Gene

genes like me logo Genes that share paralogs with RDH11: view

Variants for RDH11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RDH11 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
709910 Likely Benign: not provided 67,691,187(-) G/A MISSENSE_VARIANT
711386 Likely Benign: not provided 67,692,523(-) C/T SYNONYMOUS_VARIANT
719543 Benign: not provided 67,678,357(-) G/A SYNONYMOUS_VARIANT
741130 Likely Benign: not provided 67,690,248(-) T/C MISSENSE_VARIANT,INTRON_VARIANT
747712 Likely Benign: not provided 67,685,191(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RDH11 Gene

Structural Variations from Database of Genomic Variants (DGV) for RDH11 Gene

Variant ID Type Subtype PubMed ID
nsv521832 CNV loss 19592680

Variation tolerance for RDH11 Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RDH11 Gene

Human Gene Mutation Database (HGMD)
RDH11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RDH11

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RDH11 Gene

Disorders for RDH11 Gene

MalaCards: The human disease database

(10) MalaCards diseases for RDH11 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RDH11 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RDH11_HUMAN
  • Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) [MIM:616108]: A disorder characterized by retinal dystrophy resulting in progressive decrease in visual acuity and difficulties with night vision in the first decade of life, development of juvenile cataracts, facial dysmorphism, psychomotor developmental delays, learning disabilities and short stature. Ophthalmological findings include salt-and-pepper retinopathy, attenuation of the arterioles, generalized rod-cone dysfunction, mottled macula at an early age, and peripapillary sparing of the retinal pigment epithelium. {ECO:0000269 PubMed:24916380}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with RDH11: view

No data available for Genatlas for RDH11 Gene

Publications for RDH11 Gene

  1. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. (PMID: 12226107) Haeseleer F … Palczewski K (The Journal of biological chemistry 2002) 2 3 4
  2. Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1). (PMID: 12036956) Kedishvili NY … Nelson PS (The Journal of biological chemistry 2002) 3 4 23
  3. Prostate short-chain dehydrogenase reductase 1 (PSDR1): a new member of the short-chain steroid dehydrogenase/reductase family highly expressed in normal and neoplastic prostate epithelium. (PMID: 11245473) Lin B … Nelson PS (Cancer research 2001) 3 4 23
  4. The interaction of selenoprotein F (SELENOF) with retinol dehydrogenase 11 (RDH11) implied a role of SELENOF in vitamin A metabolism. (PMID: 29410696) Tian J … Ni J (Nutrition & metabolism 2018) 3 4
  5. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. (PMID: 24916380) Xie YA … Allikmets R (Human molecular genetics 2014) 3 4

Products for RDH11 Gene

Sources for RDH11 Gene