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Gene Symbol |
NR3C1 |
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Aliases |
GCCR, GCR, GCRST, GR, GRL |
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Entrez Gene ID |
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Gene Name |
Nuclear receptor subfamily 3 group C member 1 |
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Chromosomal Location |
5q31.3 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
NM_001018077.1, NR_157096.2, NM_000176.3, NM_001018074.1, NM_001018075.1, NM_001018076.2, NM_001020825.2, NM_001024094.2, NM_001204258.2, NM_001204259.2, NM_001204260.2, NM_001204261.2, NM_001204262.2, NM_001204263.2, NM_001204264.2, NM_001204265.2, NM_001364180.2, NM_001364181.2, NM_001364182.1, NM_001364183.2, NM_001364184.2, NM_001364185.1 |
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e!Ensembl
Gene |
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Transcript |
ENST00000394464, ENST00000415690, ENST00000504572, ENST00000394466, ENST00000231509, ENST00000652686, ENST00000503201, ENST00000510170, ENST00000508760, ENST00000502892, ENST00000514699, ENST00000502500, ENST00000343796, ENST00000424646 |
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Protein |
ENSP00000377977, ENSP00000387672, ENSP00000422518, ENSP00000377979, ENSP00000231509, ENSP00000498663, ENSP00000427672, ENSP00000424747, ENSP00000425313, ENSP00000420856, ENSP00000426478, ENSP00000425374, ENSP00000343205, ENSP00000405282
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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 |
GO:0045944 |
Biological process |
Positive regulation of transcription by RNA polymerase II |
IDA |
15769988, 16728402, 23823477 |
GO:0045944 |
Biological process |
Positive regulation of transcription by RNA polymerase II |
IMP |
9353307 |
GO:0071383 |
Biological process |
Cellular response to steroid hormone stimulus |
IDA |
15769988, 17635946 |
GO:0071385 |
Biological process |
Cellular response to glucocorticoid stimulus |
IDA |
9353307 |
GO:0071549 |
Biological process |
Cellular response to dexamethasone stimulus |
IMP |
12902338 |
GO:0071560 |
Biological process |
Cellular response to transforming growth factor beta stimulus |
IDA |
12902338 |
GO:1902895 |
Biological process |
Positive regulation of pri-miRNA transcription by RNA polymerase II |
IDA |
27334923 |
GO:0005634 |
Cellular component |
Nucleus |
IDA |
9353307, 15769988, 17635946, 22022502, 23878391 |
GO:0005737 |
Cellular component |
Cytoplasm |
IDA |
15769988, 17635946, 22022502 |
GO:0005759 |
Cellular component |
Mitochondrial matrix |
TAS |
10887960 |
GO:0016607 |
Cellular component |
Nuclear speck |
IDA |
9353307 |
GO:0032991 |
Cellular component |
Protein-containing complex |
IDA |
26593036 |
GO:0000978 |
Molecular function |
RNA polymerase II proximal promoter sequence-specific DNA binding |
IDA |
16728402 |
GO:0000981 |
Molecular function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ISM |
19274049 |
GO:0000981 |
Molecular function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
NAS |
19274049 |
GO:0001047 |
Molecular function |
Core promoter binding |
IDA |
17081986 |
GO:0001228 |
Molecular function |
DNA-binding transcription activator activity, RNA polymerase II-specific |
IDA |
16728402, 23823477 |
GO:0003700 |
Molecular function |
DNA-binding transcription factor activity |
IDA |
15769988 |
GO:0004879 |
Molecular function |
Nuclear receptor activity |
IDA |
17635946 |
GO:0005496 |
Molecular function |
Steroid binding |
IDA |
15769988 |
GO:0005515 |
Molecular function |
Protein binding |
IPI |
9079630, 10364267, 11266503, 12552091, 12773562, 12902338, 15591535, 15769988, 15941832, 16606617, 16619302, 16888650, 17003263, 17635946, 17978169, 19141540, 20195357, 21980503, 22170608, 23339905, 24291004, 24658140, 24949977, 27353360 |
GO:0019901 |
Molecular function |
Protein kinase binding |
IPI |
20371704 |
GO:0032183 |
Molecular function |
SUMO binding |
IPI |
17081986 |
GO:0051879 |
Molecular function |
Hsp90 protein binding |
IPI |
26593036 |
GO:1990239 |
Molecular function |
Steroid hormone binding |
IDA |
17635946 |
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Protein Information |
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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) |
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Function |
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NP_001018087.1, , NP_000167.1, NP_001018084.1, NP_001018085.1, NP_001018086.1, NP_001018661.1, NP_001019265.1, NP_001191187.1, NP_001191188.1, NP_001191189.1, NP_001191190.1, NP_001191191.1, NP_001191192.1, NP_001191193.1, NP_001191194.1, NP_001351109.1, NP_001351110.1, NP_001351111.1, NP_001351112.1, NP_001351113.1, NP_001351114.1
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UniProt |
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PDB |
1M2Z, 1NHZ, 1P93, 3BQD, 3CLD, 3E7C, 3H52, 3K22, 3K23, 4CSJ, 4HN5, 4HN6, 4LSJ, 4MDD, 4P6W, 4P6X, 4UDC, 4UDD, 5CBX, 5CBY, 5CBZ, 5CC1, 5E69, 5E6A, 5E6B, 5E6C, 5E6D, 5EMC, 5EMP, 5EMQ, 5G3J, 5G5W, 5NFP, 5NFT, 5UC3, 5VA0, 5VA7, 6BQU, 6CFN, 6DXK, 6EL6, 6EL7, 6EL9 |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000365651 |
P16860 |
P16860 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Cardiovascular Diseases |
Hypertensive disease |
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Endocrine System Diseases |
Gonadal Dysgenesis, 46,XX |
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Pseudohermaphroditism |
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PCOS |
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Eye Diseases |
Ocular Hypertension |
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Neoplasms |
Prostate cancer |
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Nutritional and Metabolic Diseases |
Glucocorticoid Receptor Deficiency |
12050230, 8863343, 17635946, 16449337, 11589680, 186477, 6282933, 11701741, 1704018, 15769988, 2996089, 8445027, 6841559, 7683692, 27120390, 26541474, 26031419, 24483153, 23426617, 21362280, 20335448 |
Pseudohermaphroditism With Hypokalemia |
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Gluocose Intolerance |
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Psychiatric/Brain disorders |
Manic Disorder |
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Schizoaffective Disorder |
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Mental Depression |
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Mood Disorders |
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Psychosis |
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Bipolar Disorder |
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Schizophreniform Disorders |
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Schizophrenia |
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Melancholia |
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Obstructive Sleep Apnea |
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Reproductive disorders |
Endometrioma |
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Endometriosis |
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Respiratory Tract Diseases |
Lung Diseases |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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DHEAS,SHBG,mineralocorticoid receptor (MR) protein and heat shock proteins (Hsps) |
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Related
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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. |
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Aromatase CYP19,HSD11B1,H6PD,ESR1 and ESR2 |
Obesity and insulin resistance |
GCR variants (rs6190 and rs6198) |
Rotterdam criteria |
Related
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Caucasian women with anovulatory PCOS-518 |
GCR variants may influence gonadotrophin levels in women with anovulatory PCOS |
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