Details for: RDH5

Gene ID: 5959

Symbol: RDH5

Ensembl ID: ENSG00000135437

Description: retinol dehydrogenase 5

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 44.4244
    Cell Significance Index: -6.9100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 23.2610
    Cell Significance Index: -5.9000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 5.7423
    Cell Significance Index: -7.0800
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 2.2362
    Cell Significance Index: 36.8500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 2.1315
    Cell Significance Index: -5.7100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.9915
    Cell Significance Index: 125.5200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 1.8221
    Cell Significance Index: -7.1900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.2670
    Cell Significance Index: 57.4300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.2337
    Cell Significance Index: 35.5500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9361
    Cell Significance Index: 101.8200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8723
    Cell Significance Index: 86.2900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7888
    Cell Significance Index: 17.0900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7841
    Cell Significance Index: 707.9500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.7274
    Cell Significance Index: 10.9000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.7127
    Cell Significance Index: 5.6900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.6712
    Cell Significance Index: 51.5100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.6401
    Cell Significance Index: 33.6100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5320
    Cell Significance Index: 36.7900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4945
    Cell Significance Index: 80.4300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.4874
    Cell Significance Index: 5.8100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.4460
    Cell Significance Index: 7.1600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.3729
    Cell Significance Index: 4.6300
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3558
    Cell Significance Index: 8.2200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2345
    Cell Significance Index: 44.6200
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.2226
    Cell Significance Index: 1.8700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2200
    Cell Significance Index: 7.7300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1695
    Cell Significance Index: 3.6100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.1652
    Cell Significance Index: 4.2200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.1512
    Cell Significance Index: 1.5700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1322
    Cell Significance Index: 23.8300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1214
    Cell Significance Index: 3.3100
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.1073
    Cell Significance Index: 1.1200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1045
    Cell Significance Index: 2.0400
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.1010
    Cell Significance Index: 0.8900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1002
    Cell Significance Index: 6.4700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0818
    Cell Significance Index: 4.5900
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.0791
    Cell Significance Index: 1.1100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0732
    Cell Significance Index: 10.0500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0652
    Cell Significance Index: 8.0200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0614
    Cell Significance Index: 12.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0584
    Cell Significance Index: 20.9500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0544
    Cell Significance Index: 24.0500
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0523
    Cell Significance Index: 0.8300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0509
    Cell Significance Index: 27.8200
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.0489
    Cell Significance Index: 0.5300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0409
    Cell Significance Index: 4.1800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0393
    Cell Significance Index: 1.2600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0338
    Cell Significance Index: 4.3300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.0334
    Cell Significance Index: 0.9800
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.0292
    Cell Significance Index: 0.3000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0233
    Cell Significance Index: 1.2100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0150
    Cell Significance Index: 0.1700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0054
    Cell Significance Index: 0.0900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0036
    Cell Significance Index: -6.8100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0044
    Cell Significance Index: -8.2000
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0046
    Cell Significance Index: -0.0300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0052
    Cell Significance Index: -8.0600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0062
    Cell Significance Index: -4.5800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0067
    Cell Significance Index: -4.9200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0082
    Cell Significance Index: -6.2300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0087
    Cell Significance Index: -4.9000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0103
    Cell Significance Index: -6.5500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0107
    Cell Significance Index: -6.6900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0129
    Cell Significance Index: -0.6000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0156
    Cell Significance Index: -1.7900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0156
    Cell Significance Index: -0.1200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0157
    Cell Significance Index: -7.1300
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: -0.0158
    Cell Significance Index: -0.1700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0187
    Cell Significance Index: -1.3900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0208
    Cell Significance Index: -2.6900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0227
    Cell Significance Index: -6.5200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0241
    Cell Significance Index: -2.8100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0256
    Cell Significance Index: -1.8100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0302
    Cell Significance Index: -5.1600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0350
    Cell Significance Index: -6.9400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0350
    Cell Significance Index: -7.3700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0376
    Cell Significance Index: -0.6300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0380
    Cell Significance Index: -2.3400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0428
    Cell Significance Index: -1.0700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0451
    Cell Significance Index: -0.9400
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.0454
    Cell Significance Index: -0.5500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0462
    Cell Significance Index: -6.7200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0466
    Cell Significance Index: -1.0200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0481
    Cell Significance Index: -1.3800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0499
    Cell Significance Index: -5.8800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0533
    Cell Significance Index: -2.5100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0690
    Cell Significance Index: -7.1800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0728
    Cell Significance Index: -1.9500
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.0832
    Cell Significance Index: -0.6400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0833
    Cell Significance Index: -6.6000
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0836
    Cell Significance Index: -1.2500
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0882
    Cell Significance Index: -1.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0897
    Cell Significance Index: -5.5000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0909
    Cell Significance Index: -1.2400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0959
    Cell Significance Index: -2.6800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1043
    Cell Significance Index: -7.0100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1050
    Cell Significance Index: -3.6500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1118
    Cell Significance Index: -2.3400
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: -0.1153
    Cell Significance Index: -1.1700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1199
    Cell Significance Index: -2.9900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Enzymatic activity:** RDH5 is a dehydrogenase enzyme that catalyzes the conversion of retinol to retinaldehyde. 2. **Tissue expression:** RDH5 is highly expressed in thymocytes, kidney proximal convoluted tubule epithelial cells, and cerebral cortex GABAergic interneurons. 3. **Cellular localization:** RDH5 is localized to the endoplasmic reticulum lumen and membrane. 4. **Pathway involvement:** RDH5 is involved in the retinoid cycle, a complex biochemical pathway that regulates the metabolism of vitamin A and its derivatives. **Pathways and Functions:** 1. **Retinoid cycle:** RDH5 is a key enzyme in the retinoid cycle, converting retinol to retinaldehyde, which is then converted to retinoic acid. 2. **Visual transduction:** RDH5 is involved in the canonical retinoid cycle in rods, a process essential for visual perception and phototransduction. 3. **Cellular differentiation:** RDH5 plays a role in regulating cellular differentiation, proliferation, and apoptosis through the production of retinoic acid. 4. **Neurotransmission:** RDH5 is expressed in cerebral cortex GABAergic interneurons, where it may regulate neurotransmission and synaptic plasticity. **Clinical Significance:** 1. **Retinoid cycle disorders:** Alterations in RDH5 expression or function have been implicated in several retinoid cycle disorders, including night blindness and retinitis pigmentosa. 2. **Neurological disorders:** RDH5 has been associated with various neurological disorders, including epilepsy, schizophrenia, and autism spectrum disorder. 3. **Cancer:** RDH5 has been shown to be overexpressed in certain types of cancer, including breast and colon cancer, where it may contribute to tumor progression and metastasis. 4. **Therapeutic applications:** RDH5 inhibitors have been investigated as potential therapeutic agents for treating retinoid cycle disorders and cancer. In conclusion, RDH5 is a critical enzyme in the retinoid cycle, and its dysregulation has been implicated in various diseases. Further research is needed to fully understand the mechanisms by which RDH5 regulates cellular processes and to explore its therapeutic potential.

Genular Protein ID: 3645609044

Symbol: RDH5_HUMAN

Name: Retinol dehydrogenase 5

UniProtKB Accession Codes:

Q92781 O00179 Q8TAI2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 26 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 3 EMBL 4 Ensembl 2 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 2 Rhea 5 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8884265

Title: Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene.

PubMed ID: 8884265

DOI: 10.1006/geno.1996.0487

PubMed ID: 9115228

Title: Identification and characterization of a stereospecific human enzyme that catalyzes 9-cis-retinol oxidation. A possible role in 9-cis-retinoic acid formation.

PubMed ID: 9115228

DOI: 10.1074/jbc.272.18.11744

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9931293

Title: Activity of human 11-cis-retinol dehydrogenase (Rdh5) with steroids and retinoids and expression of its mRNA in extra-ocular human tissue.

PubMed ID: 9931293

DOI: 10.1042/bj3380023

PubMed ID: 10588954

Title: Biochemical properties, tissue expression, and gene structure of a short chain dehydrogenase/reductase able to catalyze cis-retinol oxidation.

PubMed ID: 10588954

PubMed ID: 11675386

Title: Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.

PubMed ID: 11675386

DOI: 10.1074/jbc.m107337200

PubMed ID: 19027726

Title: The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.

PubMed ID: 19027726

DOI: 10.1016/j.cbi.2008.10.040

PubMed ID: 10617778

Title: 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.

PubMed ID: 10617778

PubMed ID: 10369264

Title: Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.

PubMed ID: 10369264

DOI: 10.1038/9707

PubMed ID: 11078852

Title: A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.

PubMed ID: 11078852

DOI: 10.1016/s0002-9394(00)00765-0

PubMed ID: 11053295

Title: A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.

PubMed ID: 11053295

PubMed ID: 11053296

Title: Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus.

PubMed ID: 11053296

PubMed ID: 11470705

Title: Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.

PubMed ID: 11470705

DOI: 10.1016/s0161-6420(01)00640-6

PubMed ID: 12788147

Title: Macular dystrophy in a Japanese family with fundus albipunctatus.

PubMed ID: 12788147

DOI: 10.1016/s0002-9394(02)02290-0

PubMed ID: 12967826

Title: A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.

PubMed ID: 12967826

DOI: 10.1016/s0002-9394(03)00332-5

PubMed ID: 22736946

Title: Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.

PubMed ID: 22736946

PubMed ID: 24603341

Title: exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

PubMed ID: 24603341

DOI: 10.1016/j.ygeno.2014.02.006

PubMed ID: 25820994

Title: Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).

PubMed ID: 25820994

DOI: 10.1007/s13353-015-0281-x

PubMed ID: 28418496

Title: Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

PubMed ID: 28418496

DOI: 10.1167/iovs.17-21424

PubMed ID: 29541409

Title: Inhibition of dihydrotestosterone synthesis in prostate cancer by combined frontdoor and backdoor pathway blockade.

PubMed ID: 29541409

DOI: 10.18632/oncotarget.24107

Sequence Information:

  • Length: 318
  • Mass: 34979
  • Checksum: 2CE24343F2EEA4B7
  • Sequence:
    • MWLPLLLGAL LWAVLWLLRD RQSLPASNAF VFITGCDSGF GRLLALQLDQ RGFRVLASCL 
TPSGAEDLQR VASSRLHTTL LDITDPQSVQ QAAKWVEMHV KEAGLFGLVN NAGVAGIIGP 
TPWLTRDDFQ RVLNVNTMGP IGVTLALLPL LQQARGRVIN ITSVLGRLAA NGGGYCVSKF 
GLEAFSDSLR RDVAHFGIRV SIVEPGFFRT PVTNLESLEK TLQACWARLP PATQAHYGGA 
FLTKYLKMQQ RIMNLICDPD LTKVSRCLEH ALTARHPRTR YSPGWDAKLL WLPASYLPAS 
LVDAVLTWVL PKPAQAVY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.