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 (glucocorticoid receptor)
 
Chromosomal Location
5q31-q32
 
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)
 
GeneCards ID
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006351 Biological process Transcription, DNA-templated TAS 10887960
GO:0006355 Biological process Regulation of transcription, DNA-templated IDA 19141540
GO:0006366 Biological process Transcription from RNA polymerase II promoter TAS 8621628
GO:0007165 Biological process Signal transduction TAS 7769088
GO:0005759 Cellular component Mitochondrial matrix TAS 10887960
Protein Information
 
Protein Name
Glucocorticoid receptor
 
Function
Receptor for glucocorticoids (GC). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other transcription factors. Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Could act as a coactivator for STAT5-dependent transcription upon growth hormone (GH) stimulation and could reveal an essential role of hepatic GR in the control of body growth. Involved in chromatin remodeling. May play a negative role in adipogenesis through the regulation of lipolytic and antilipogenic genes expression
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00104 Hormone_recep Ligand-binding domain of nuclear hormone receptor
PF00105 zf-C4 Zinc finger, C4 type (two domains)
PF02155 GCR Glucocorticoid receptor
 
KEGG
 
OMIM

Associated Diseases

Diseases References
46 XY disorder of sex development 19246354
Infertility 8671472
Obesity 21803757
Polycystic ovary syndrome (PCOS) 10923281, 17603492, 10207720, 9222646, 15855352, 17235527, 15331560, 15657373, 18812636, 22314079, 23685425, 22621829, 20504873, 21270326, 19240152, 17445806, 24040456, 22564702, 22575725, 23748472, 21853931, 22527903, 21827375, 20840271, 20130411, 20045799, 19549442, 18680073, 17141766, 16785159, 16600233, 16316841, 15853827, 15472214, 14671186, 12615821, 11836319, 19681917, 15717879, 15660727, 17420421, 7652727, 15208835, 16980199, 16334591, 18974244, 14764276, 17023708, 15159251, 9590566, 20001427, 19114407, 14976002, 9861517, 8462390, 1736105, 18309108, 17954428, 16506274, 14968294, 12627878, 18779682, 16581078, 9240771, 19138313, 16259222, 12957327, 16054467, 9100707, 17368007, 1457758, 7981184, 10707556, 9270410, 8856394, 12150695, 12692007, 19015938, 18775353, 18640389, 17873318, 17320517, 17183416, 17218834, 15998260, 15579783, 16820727, 16392771, 16319655, 14647894, 14553866, 11997182, 14739074, 12647277, 12408408, 12365467, 10821297, 10440591, 10374288, 8299479, 19149565, 7828781, 2065046, 19572942, 19421860, 19564534, 18927552, 18296327, 17826042, 17760500, 17259501, 16522281, 15075712, 12877091, 12702035, 12675638, 8949974, 19731182, 19164269, 17952838, 16839860, 15590982, 14626524, 12610050, 12540621, 12148078, 10024191, 8964200, 7782801, 20513276, 19369429, 19214921, 18772854, 16697386, 17181562, 15258201, 15047659, 8736268, 19218574, 17083810, 12042261, 9439531, 19947235, 11820995, 15073570, 18486583, 17119001, 17054989, 17341558, 19501863, 16034410, 17656599, 17726085, 18081728, 18381580, 18487287, 17416795, 19537932, 19190263, 17595259, 19003725, 17550959, 18641048, 19501859, 17003346, 18783798, 17875187, 18493106, 18397979, 17721906, 17492427, 20037278, 18052678, 18426837, 18584408, 17970534, 18796616, 18334592, 17890490, 17640906, 19369430, 19264371, 17618858, 17065684, 19215278, 18710473, 17456573, 20222849, 18426814, 17411394, 19088257, 17337499, 18199128, 22397743, 15886251, 20889251, 22068557, 8671472
Premature ovarian failure (POF) 24073220
   
References
 
Primary:

Hypothalamic-pituitary-adrenocortical axis hypersensitivity and glucocorticoid receptor expression and function in women with polycystic ovary syndrome.

Milutinovic D Vojnovic, Macut D, Bozic I, Nestorov J, Damjanovic S, Matic G
Department of Biochemistry, Institute for Biological Research Sinisa Stankovic, University of Belgrade, Belgrade, Serbia. dvojnovic@ibiss.bg.ac.rs
Exp Clin Endocrinol Diabetes. 2011 Nov;119(10):636-43. doi:
 
Supporting Literature:
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 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
24626943, PMC3935131
Association of glucocorticoid receptor polymorphisms with clinical and metabolic profiles in polycystic ovary syndrome. 
Clinical study 

 

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