DHRS9

Gene Information
 
Gene Symbol
DHRS9
 
Aliases
3-alpha-HSD, 3ALPHA-HSD, RDH-E2, RDH-TBE, RDH15, RDHL, RDHTBE, RETSDR8, SDR9C4
 
Entrez Gene ID
 
Gene Name
Dehydrogenase/reductase 9
 
Chromosomal Location
2q31.1
 
HGNC ID
 
Summary
This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0008209 Biological process Androgen metabolic process IDA 11294878
GO:0030855 Biological process Epithelial cell differentiation NAS 11304534
GO:0042448 Biological process Progesterone metabolic process IDA 11294878
GO:0042572 Biological process Retinol metabolic process NAS 11304534
GO:0042904 Biological process 9-cis-retinoic acid biosynthetic process IDA 11304534
Protein Information
 
Protein Name
Dehydrogenase/reductase SDR family member 9, 3-alpha hydroxysteroid dehydrogenase, NADP-dependent retinol dehydrogenase/reductase, dehydrogenase/reductase (SDR family) member 9, retinol dehydrogenase 15, retinol dehydrogenase homolog, short chain dehydrogenase/reductase family 9C member 4, short-chain dehydrogenase/reductase retSDR8, tracheobronchial epithelial cell-specific retinol dehydrogenase
 
Function
3-alpha-hydroxysteroid dehydrogenase that converts 3-alpha-tetrahydroprogesterone (allopregnanolone) to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone (PubMed:11294878, PubMed:29541409). Plays also a role in the biosynthesis of retinoic acid from retinaldehyde (PubMed:11304534, PubMed:12618084). Can utilize both NADH and NADPH
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF00106 adh_short
Pathways
 
KEGG
 
Reactome
 

Retinol metabolism
Metabolic pathways

 

The canonical retinoid cycle in rods (twilight vision)
RA biosynthesis pathway

Interactions
 
STRING MINT IntAct
ENSP00000389241 Q9BPW9
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Neoplasms
Pancreatic Ductal Adenocarcinoma
Squamous Cell Carcinoma
Renal Cancer
Nutritional and Metabolic Diseases
Obesity
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS, Lipid and Steroid metabolism 
 
Rotterdam Criteria 
Direct 
79 PCOs patients and 93 controls 
The results of qPCR showed that the expression of related genes were in accordance with the RNA-seq analysis results. 

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