Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RDH13 Gene

Aliases for RDH13 Gene

  • Retinol Dehydrogenase 13 (All-Trans/9-Cis) 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 7C Member 3 3 4
  • Retinol Dehydrogenase 13 (All-Trans And 9-Cis) 2 3
  • SDR7C3 3 4
  • Short Chain Dehydrogenase/Reductase Family 7C, Member 3 3
  • Short Chain Dehydrogenase/Reductase Family 7C 2
  • EC 1.1.1.- 4
  • Member 3 2

External Ids for RDH13 Gene

Previous GeneCards Identifiers for RDH13 Gene

  • GC19M055979
  • GC19M060231
  • GC19M060247
  • GC19M055556
  • GC19M051879

Summaries for RDH13 Gene

Entrez Gene Summary for RDH13 Gene

  • This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

GeneCards Summary for RDH13 Gene

RDH13 (Retinol Dehydrogenase 13 (All-Trans/9-Cis)) is a Protein Coding gene. Diseases associated with RDH13 include Leber Congenital Amaurosis. Among its related pathways are Signaling by Retinoic Acid and Visual Cycle in Retinal Rods. GO annotations related to this gene include oxidoreductase activity and coenzyme binding. An important paralog of this gene is RDH14.

UniProtKB/Swiss-Prot for RDH13 Gene

  • Does not exhibit retinol dehydrogenase (RDH) activity in vitro.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RDH13 Gene

Genomics for RDH13 Gene

Regulatory Elements for RDH13 Gene

Enhancers for RDH13 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RDH13 on UCSC Golden Path with GeneCards custom track

Promoters for RDH13 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RDH13 on UCSC Golden Path with GeneCards custom track

Genomic Location for RDH13 Gene

Chromosome:
19
Start:
55,039,108 bp from pter
End:
55,071,291 bp from pter
Size:
32,184 bases
Orientation:
Minus strand

Genomic View for RDH13 Gene

Genes around RDH13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RDH13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RDH13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RDH13 Gene

Proteins for RDH13 Gene

  • Protein details for RDH13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBN7-RDH13_HUMAN
    Recommended name:
    Retinol dehydrogenase 13
    Protein Accession:
    Q8NBN7
    Secondary Accessions:
    • Q6UX79
    • Q96G88

    Protein attributes for RDH13 Gene

    Size:
    331 amino acids
    Molecular mass:
    35932 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RDH13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RDH13 Gene

Proteomics data for RDH13 Gene at MOPED

Post-translational modifications for RDH13 Gene

  • Ubiquitination at Lys 102
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RDH13 Gene

Domains & Families for RDH13 Gene

Gene Families for RDH13 Gene

Suggested Antigen Peptide Sequences for RDH13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NBN7

UniProtKB/Swiss-Prot:

RDH13_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 RDH13: view

Function for RDH13 Gene

Molecular function for RDH13 Gene

UniProtKB/Swiss-Prot Function:
Does not exhibit retinol dehydrogenase (RDH) activity in vitro.

Enzyme Numbers (IUBMB) for RDH13 Gene

genes like me logo Genes that share phenotypes with RDH13: view

Animal Models for RDH13 Gene

MGI Knock Outs for RDH13:

Animal Model Products

  • Taconic Biosciences Mouse Models for RDH13

miRNA for RDH13 Gene

miRTarBase miRNAs that target RDH13

Inhibitory RNA Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RDH13 Gene

Localization for RDH13 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RDH13 Gene COMPARTMENTS Subcellular localization image for RDH13 gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RDH13 Gene

Pathways & Interactions for RDH13 Gene

genes like me logo Genes that share pathways with RDH13: view

Pathways by source for RDH13 Gene

1 Qiagen pathway for RDH13 Gene

Interacting Proteins for RDH13 Gene

Gene Ontology (GO) - Biological Process for RDH13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009644 response to high light intensity IEA --
GO:0010842 retina layer formation IEA --
genes like me logo Genes that share ontologies with RDH13: view

No data available for SIGNOR curated interactions for RDH13 Gene

Drugs & Compounds for RDH13 Gene

(2) Drugs for RDH13 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved Nutra Target 438
1-Butanol Experimental Pharma 0

(7) Additional Compounds for RDH13 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
13-OxoODE
  • (9Z,11E)-13-Oxooctadeca-9,11-dienoate
  • (9Z,11E)-13-Oxooctadeca-9,11-dienoic acid
  • 13-KODE
3a,7a,12a,24-Tetrahydroxy-5b-cholestanoyl-CoA
  • (24R,25R)-3-alpha,7-alpha,12-alpha,24-tetrahydroxy-5-beta-cholestanoyl-CoA
  • (24R,25R)-3-alpha,7-alpha,12-alpha,24-tetrahydroxy-5-beta-cholestanoyl-Coenzyme A
  • 3a,7a,12a,24-Tetrahydroxy-5b-cholestanoyl-CoA
  • 3a,7a,12a,24-Tetrahydroxy-5b-cholestanoyl-Coenzyme A
  • 3a,7a,12a,24z-Tetrahydroxy-5b-cholestanoyl-CoA
3a,7a,12a-Trihydroxy-5b-24-oxocholestanoyl-CoA
  • (24R,25R)-3-alpha,7-alpha,12-alpha,24-tetrahydroxy-5-beta-cholestan-26-oyl-CoA
  • (24R,25R)-3-alpha,7-alpha,12-alpha,24-tetrahydroxy-5-beta-cholestan-26-oyl-Coenzyme A
  • 24-Oxo-25(R)-trihydroxycoprostanoyl-CoA
  • 24-Oxo-25(R)-trihydroxycoprostanoyl-Coenzyme A
  • 25(R)-24-Oxo-3alpha,7alpha,12alpha-trihydroxycoprostanoyl-CoA
3a,7a,12a-Trihydroxy-5b-cholestanoyl-CoA
  • (25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestan-26-oyl-CoA
  • (25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestan-26-oyl-Coenzyme A
  • (25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA
  • (25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-Coenzyme A
  • 25(S)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA
57458-60-3
Butanal
  • 1-Butanal
  • Butaldehyde
  • Butalyde
  • Butan-1-al
  • Butanaldehyde
123-72-8
genes like me logo Genes that share compounds with RDH13: view

Transcripts for RDH13 Gene

Unigene Clusters for RDH13 Gene

Retinol dehydrogenase 13 (all-trans/9-cis):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RDH13 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - -
SP5: - - - -
SP6: - - - - - - - - - -
SP7: -
SP8: -

Relevant External Links for RDH13 Gene

GeneLoc Exon Structure for
RDH13
ECgene alternative splicing isoforms for
RDH13

Expression for RDH13 Gene

mRNA expression in normal human tissues for RDH13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RDH13 Gene

This gene is overexpressed in Nasal epithelium (10.4), Bone (7.7), and Placenta (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RDH13 Gene



SOURCE GeneReport for Unigene cluster for RDH13 Gene Hs.327631

mRNA Expression by UniProt/SwissProt for RDH13 Gene

Q8NBN7-RDH13_HUMAN
Tissue specificity: Expressed mostly in eye, pancreas, placenta and lung. In the retina, detected in the inner segment of the photoreceptor cells. Weak signals were observed in a small population of inner nuclear neurons and the inner plexiform layer.
genes like me logo Genes that share expression patterns with RDH13: view

Protein tissue co-expression partners for RDH13 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for RDH13 Gene

Orthologs for RDH13 Gene

This gene was present in the common ancestor of animals.

Orthologs for RDH13 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RDH13 35
  • 87.01 (n)
  • 86.4 (a)
RDH13 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RDH13 35
  • 87.31 (n)
  • 89.12 (a)
RDH13 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rdh13 35
  • 84.01 (n)
  • 86.52 (a)
Rdh13 16
Rdh13 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RDH13 35
  • 99.4 (n)
  • 99.7 (a)
RDH13 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rdh13 35
  • 84.27 (n)
  • 86.56 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia RDH13 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rdh13 35
  • 66.35 (n)
  • 74.38 (a)
zebrafish
(Danio rerio)
Actinopterygii sbcb464 35
si:dkey-23o4.6 35
  • 57.1 (n)
  • 54.19 (a)
rdh12l 36
  • 52 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005980 35
  • 58.33 (n)
  • 54.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG30491 35
  • 55.8 (n)
  • 52.4 (a)
CG2064 36
  • 52 (a)
ManyToMany
CG2065 36
  • 51 (a)
ManyToMany
CG2070 36
  • 51 (a)
ManyToMany
CG30491 36
  • 50 (a)
ManyToMany
CG30495 36
  • 45 (a)
ManyToMany
CG3842 36
  • 37 (a)
ManyToMany
Species with no ortholog for RDH13:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RDH13 Gene

ENSEMBL:
Gene Tree for RDH13 (if available)
TreeFam:
Gene Tree for RDH13 (if available)

Paralogs for RDH13 Gene

Paralogs for RDH13 Gene

(9) SIMAP similar genes for RDH13 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with RDH13: view

Variants for RDH13 Gene

Structural Variations from Database of Genomic Variants (DGV) for RDH13 Gene

Variant ID Type Subtype PubMed ID
esv2667609 CNV Deletion 23128226
esv2718872 CNV Deletion 23290073
nsv833880 CNV Loss 17160897
dgv4014n71 CNV Loss 21882294
nsv912446 CNV Loss 21882294
nsv912448 CNV Loss 21882294
dgv1131e1 CNV Complex 17122850
esv34356 CNV Gain 17911159
nsv9770 CNV Loss 18304495
esv2671441 CNV Deletion 23128226
esv9070 CNV Loss 19470904
esv2718944 CNV Deletion 23290073
esv2672890 CNV Deletion 23128226
nsv817874 CNV Loss 17921354

Variation tolerance for RDH13 Gene

Residual Variation Intolerance Score: 84.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.90; 74.32% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Relevant External Links for RDH13 Gene

Disorders for RDH13 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RDH13 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leber congenital amaurosis
  • lca
- elite association - COSMIC cancer census association via MalaCards
Search RDH13 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RDH13

Genetic Association Database (GAD)
RDH13
Human Genome Epidemiology (HuGE) Navigator
RDH13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RDH13
genes like me logo Genes that share disorders with RDH13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RDH13 Gene

Publications for RDH13 Gene

  1. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. (PMID: 12226107) Haeseleer F. … Palczewski K. (J. Biol. Chem. 2002) 2 3 4 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. Human retinol dehydrogenase 13 (RDH13) is a mitochondrial short-chain dehydrogenase/reductase with a retinaldehyde reductase activity. (PMID: 18039331) Belyaeva O.V. … Kedishvili N.Y. (FEBS J. 2008) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for RDH13 Gene

Sources for RDH13 Gene

Content