NR3C1

Gene Information
 
Gene Symbol
NR3C1
 
Aliases
GCCR, GCR, GCRST, GR, GRL
 
Entrez Gene ID
 
Gene Name
Nuclear receptor subfamily 3 group C member 1
 
Chromosomal Location
5q31.3
 
HGNC ID
 
Summary
This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0000122 Biological process Negative regulation of transcription by RNA polymerase II IMP 12902338
GO:0006351 Biological process Transcription, DNA-templated IDA 17081986
GO:0006355 Biological process Regulation of transcription, DNA-templated IDA 19141540
GO:0006366 Biological process Transcription by RNA polymerase II TAS 8621628
GO:0007165 Biological process Signal transduction TAS 7769088
Protein Information
 
Protein Name
Glucocorticoid receptor, glucocorticoid nuclear receptor variant 1, nuclear receptor subfamily 3 group C member 1 variant hGR-B(54), nuclear receptor subfamily 3 group C member 1 variant hGR-B(77), nuclear receptor subfamily 3 group C member 1 variant hGR-B(93), nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
 
Function
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF02155 GCR
PF00104 Hormone_recep
PF00105 zf-C4
Pathways
 
KEGG
 
Reactome
 

Neuroactive ligand-receptor interaction

 

HSP90 chaperone cycle for steroid hormone receptors (SHR)
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
PTK6 Expression

Interactions
 
STRING MINT IntAct
ENSP00000365651 P16860 P16860
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Hypertensive disease
Endocrine System Diseases
Gonadal Dysgenesis, 46,XX
Pseudohermaphroditism
PCOS
Eye Diseases
Ocular Hypertension
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
DHEAS,SHBG,mineralocorticoid receptor (MR) protein and heat shock proteins (Hsps) 
 
 
 
Related 
 
The results did not confirm the initial hypothesis, but imply that PCOS is associated with increased GR protein concentration and HPA axis sensitivity to dexamethasone. 
Aromatase CYP19,HSD11B1,H6PD,ESR1 and ESR2 
Obesity and insulin resistance 
GCR variants (rs6190 and rs6198) 
Rotterdam criteria 
Related 
Caucasian women with anovulatory PCOS-518 
GCR variants may influence gonadotrophin levels in women with anovulatory PCOS 

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