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Aliases for NR3C1 Gene

Aliases for NR3C1 Gene

  • Nuclear Receptor Subfamily 3 Group C Member 1 2 3 4 5
  • Nuclear Receptor Subfamily 3, Group C, Member 1 (Glucocorticoid Receptor) 2 3
  • Glucocorticoid Receptor 2 3
  • GRL 3 4
  • GR 3 4
  • Nuclear Receptor Subfamily 3, Group C, Member 1 2
  • Glucocorticoid Nuclear Receptor Variant 1 3
  • GCRST 3
  • GCCR 3
  • GCR 3

External Ids for NR3C1 Gene

Previous HGNC Symbols for NR3C1 Gene

  • GRL

Previous GeneCards Identifiers for NR3C1 Gene

  • GC05M142559
  • GC05M142687
  • GC05M142639
  • GC05M137804

Summaries for NR3C1 Gene

Entrez Gene Summary for NR3C1 Gene

  • 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 Summary for NR3C1 Gene

NR3C1 (Nuclear Receptor Subfamily 3 Group C Member 1) is a Protein Coding gene. Diseases associated with NR3C1 include Glucocorticoid Resistance and Cushing's Syndrome. Among its related pathways are PEDF Induced Signaling and Transcription_Role of VDR in regulation of genes involved in osteoporosis. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is NR3C2.

UniProtKB/Swiss-Prot for NR3C1 Gene

  • Receptor for glucocorticoids (GC) (PubMed:27120390). 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. Involved in chromatin remodeling (PubMed:9590696). Plays a role in rapid mRNA degradation by binding to the 5 UTR of target mRNAs and interacting with PNRC2 in a ligand-dependent manner which recruits the RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leading to RNA decay (PubMed:25775514). 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 (By similarity).

  • Isoform Alpha: Has transcriptional activation and repression activity (PubMed:15866175, PubMed:19248771, PubMed:20484466, PubMed:23820903, PubMed:11435610, PubMed:15769988, PubMed:17635946, PubMed:19141540, PubMed:21664385). Mediates glucocorticoid-induced apoptosis (PubMed:23303127). Promotes accurate chromosome segregation during mitosis (PubMed:25847991). May act as a tumor suppressor (PubMed:25847991). May play a negative role in adipogenesis through the regulation of lipolytic and antilipogenic gene expression (By similarity).

  • Isoform Beta: Acts as a dominant negative inhibitor of isoform Alpha (PubMed:7769088, PubMed:8621628, PubMed:20484466). Has intrinsic transcriptional activity independent of isoform Alpha when both isoforms are coexpressed (PubMed:19248771, PubMed:26711253). Loses this transcription modulator function on its own (PubMed:20484466). Has no hormone-binding activity (PubMed:8621628). May play a role in controlling glucose metabolism by maintaining insulin sensitivity (By similarity). Reduces hepatic gluconeogenesis through down-regulation of PEPCK in an isoform Alpha-dependent manner (PubMed:26711253). Directly regulates STAT1 expression in isoform Alpha-independent manner (PubMed:26711253).

  • Isoform Alpha-2: Has lower transcriptional activation activity than isoform Alpha. Exerts a dominant negative effect on isoform Alpha trans-repression mechanism (PubMed:20484466).

  • Isoform GR-P: Increases activity of isoform Alpha.

  • Isoform Alpha-B: More effective than isoform Alpha in transcriptional activation, but not repression activity.

  • Isoform 10: Has transcriptional activation activity.

  • Isoform Alpha-C1: Has transcriptional activation activity.

  • Isoform Alpha-C2: Has transcriptional activation activity.

  • Isoform Alpha-C3: Has highest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127). Mediates glucocorticoid-induced apoptosis (PubMed:23303127, PubMed:23820903).

  • Isoform Alpha-D1: Has transcriptional activation activity.

  • Isoform Alpha-D2: Has transcriptional activation activity.

  • Isoform Alpha-D3: Has lowest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127).

Tocris Summary for NR3C1 Gene

  • Glucocorticoid receptors (GRs) are nuclear hormone receptors of the NR3C class, which also includes mineralocorticoid, progesterone and androgen receptors. They exist as homodimers coupled to Hsp90 or HMGB proteins, which are shed upon activation.

Gene Wiki entry for NR3C1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR3C1 Gene

Genomics for NR3C1 Gene

Regulatory Elements for NR3C1 Gene

Enhancers for NR3C1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G143001 1.8 FANTOM5 Ensembl ENCODE dbSUPER 27.3 +431.4 431399 6.2 HDAC1 TBP PKNOX1 TBL1XR1 WRNIP1 RAD21 ELK1 GATA2 CBX5 ZNF143 NR3C1 ARHGAP26 GC05M142946 ARHGAP26-IT1
GH05G143007 2 FANTOM5 Ensembl ENCODE dbSUPER 22 +426.0 425991 3.1 PKNOX1 ATF1 YBX1 FEZF1 GATA2 ZNF207 FOS JUNB ZNF623 TBX21 ARHGAP26 NR3C1 GC05M142946 ARHGAP26-IT1
GH05G143495 1.5 FANTOM5 Ensembl ENCODE 26.1 -60.5 -60465 1.6 TBP PKNOX1 FOXA2 ARID4B FEZF1 RAD21 YY1 RARA FOS CREM NR3C1 ENSG00000249429
GH05G143553 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.6 -119.1 -119054 2.5 PKNOX1 FOXA2 ATF1 MLX SIN3A ARID4B DMAP1 YY1 FOS MIER2 NR3C1 ENSG00000251205 RNU7-156P
GH05G143556 1.7 FANTOM5 Ensembl ENCODE dbSUPER 18.6 -122.0 -121955 1.8 ZSCAN4 INSM2 FEZF1 RFX5 RCOR1 FOS ETV6 IKZF2 CREM EGR2 NR3C1 ENSG00000251205 RNU7-156P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NR3C1 on UCSC Golden Path with GeneCards custom track

Promoters for NR3C1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000188240 212 201 TBP PKNOX1 TBL1XR1 BMI1 RAD21 ZBTB40 EGR1 CBX5 ZNF207 RCOR1

Transcription factor binding sites by QIAGEN in the NR3C1 gene promoter:

Genomic Location for NR3C1 Gene

Chromosome:
5
Start:
143,277,931 bp from pter
End:
143,435,512 bp from pter
Size:
157,582 bases
Orientation:
Minus strand

Genomic View for NR3C1 Gene

Genes around NR3C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR3C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR3C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR3C1 Gene

Proteins for NR3C1 Gene

  • Protein details for NR3C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04150-GCR_HUMAN
    Recommended name:
    Glucocorticoid receptor
    Protein Accession:
    P04150
    Secondary Accessions:
    • A0ZXF9
    • B0LPG8
    • D3DQF4
    • F5ATB7
    • P04151
    • Q53EP5
    • Q6N0A4

    Protein attributes for NR3C1 Gene

    Size:
    777 amino acids
    Molecular mass:
    85659 Da
    Quaternary structure:
    • Heteromultimeric cytoplasmic complex with HSP90AA1, HSPA1A/HSPA1B, and FKBP5 or another immunophilin such as PPID, STIP1, or the immunophilin homolog PPP5C (PubMed:21730050). Upon ligand binding FKBP5 dissociates from the complex and FKBP4 takes its place, thereby linking the complex to dynein and mediating transport to the nucleus, where the complex dissociates (By similarity). Directly interacts with UNC45A (PubMed:16478993). Binds to DNA as a homodimer, and as heterodimer with NR3C2 or the retinoid X receptor. Binds STAT5A and STAT5B homodimers and heterodimers (By similarity). Interacts with NRIP1, POU2F1, POU2F2 and TRIM28 (By similarity). Interacts with several coactivator complexes, including the SMARCA4 complex, CREBBP/EP300, TADA2L (Ada complex) and p160 coactivators such as NCOA2 and NCOA6 (PubMed:10866662, PubMed:12151000, PubMed:12686538, PubMed:9154805, PubMed:9590696). Interaction with BAG1 inhibits transactivation (PubMed:10477749). Interacts with HEXIM1, PELP1 and TGFB1I1 (PubMed:12415108, PubMed:15211577, PubMed:15941832). Interacts with NCOA1 (PubMed:9590696). Interacts with NCOA3, SMARCA4, SMARCC1, SMARCD1, and SMARCE1 (By similarity). Interacts with CLOCK, CRY1 and CRY2 in a ligand-dependent fashion (PubMed:19141540, PubMed:21980503, PubMed:22170608). Interacts with CIART (By similarity). Interacts with RWDD3 (By similarity). Interacts with UBE2I/UBC9 and this interaction is enhanced in the presence of RWDD3 (By similarity). Interacts with GRIP1 (PubMed:15769988, PubMed:17635946). Interacts with NR4A3 (via nuclear receptor DNA-binding domain), represses transcription activity of NR4A3 on the POMC promoter Nur response element (NurRE) (PubMed:15591535). Directly interacts with PNRC2 to attract and form a complex with UPF1 and DCP1A; the interaction leads to rapid mRNA degradation (PubMed:25775514). Interacts with GSK3B (PubMed:18838540). Interacts with FNIP1 and FNIP2 (PubMed:27353360).
    Miscellaneous:
    • Can up- or down-modulate aggregation and nuclear localization of expanded polyglutamine polypeptides derived from AR and HD through specific regulation of gene expression. Aggregation and nuclear localization of expanded polyglutamine proteins are regulated cellular processes that can be modulated by this receptor, a well-characterized transcriptional regulator.
    • Isoform Beta: High constitutive expression by neutrophils may provide a mechanism by which these cells escape glucocorticoid-induced cell death and up-regulation by proinflammatory cytokines such as IL8 further enhances their survival in the presence of glucocorticoids during inflammation.

    Three dimensional structures from OCA and Proteopedia for NR3C1 Gene

neXtProt entry for NR3C1 Gene

Post-translational modifications for NR3C1 Gene

  • Acetylation by CLOCK reduces its binding to glucocorticoid response elements and its transcriptional activity.
  • Increased proteasome-mediated degradation in response to glucocorticoids (PubMed:11555652). Isoform Alpha-B appears to be more susceptible to proteolytic degradation than isoform Alpha (PubMed:11435610).
  • Phosphorylated in the absence of hormone; becomes hyperphosphorylated in the presence of glucocorticoid. The Ser-203, Ser-226 and Ser-404-phosphorylated forms are mainly cytoplasmic, and the Ser-211-phosphorylated form is nuclear (PubMed:12000743, PubMed:18838540). Phosphorylation at Ser-211 increases transcriptional activity (PubMed:12000743, PubMed:18483179). Phosphorylation at Ser-203, Ser-226 and Ser-404 decreases signaling capacity (PubMed:12000743, PubMed:18483179, PubMed:18838540). Phosphorylation at Ser-404 may protect from glucocorticoid-induced apoptosis (PubMed:18838540). Phosphorylation at Ser-203 and Ser-211 is not required in regulation of chromosome segregation (PubMed:25847991). May be dephosphorylated by PPP5C, attenuates NR3C1 action (By similarity).
  • Sumoylation at Lys-277 and Lys-293 negatively regulates its transcriptional activity (PubMed:12144530). Sumoylation at Lys-703 positively regulates its transcriptional activity in the presence of RWDD3 (By similarity). Sumoylation at Lys-277 and Lys-293 is dispensable whereas sumoylation at Lys-703 is critical for the stimulatory effect of RWDD3 on its transcriptional activity (By similarity). Heat shock increases sumoylation in a RWDD3-dependent manner (By similarity).
  • Ubiquitinated; restricts glucocorticoid-mediated transcriptional signaling.
  • Ubiquitination at Lys419
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NR3C1 Gene

Domains & Families for NR3C1 Gene

Gene Families for NR3C1 Gene

Graphical View of Domain Structure for InterPro Entry

P04150

UniProtKB/Swiss-Prot:

GCR_HUMAN :
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain (PubMed:3841189). The ligand-binding domain is required for correct chromosome segregation during mitosis although ligand binding is not required (PubMed:25847991).
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
Domain:
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain (PubMed:3841189). The ligand-binding domain is required for correct chromosome segregation during mitosis although ligand binding is not required (PubMed:25847991).
Family:
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
genes like me logo Genes that share domains with NR3C1: view

Function for NR3C1 Gene

Molecular function for NR3C1 Gene

GENATLAS Biochemistry:
nuclear recptor subafamily 3,group C,member 1,steroid/thyroid hormone receptor superfamily,interacting with tissue-specific transcriptional activators required for receptor actin (see HNFS)
UniProtKB/Swiss-Prot Function:
Receptor for glucocorticoids (GC) (PubMed:27120390). 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. Involved in chromatin remodeling (PubMed:9590696). Plays a role in rapid mRNA degradation by binding to the 5 UTR of target mRNAs and interacting with PNRC2 in a ligand-dependent manner which recruits the RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leading to RNA decay (PubMed:25775514). 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 (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform Alpha: Has transcriptional activation and repression activity (PubMed:15866175, PubMed:19248771, PubMed:20484466, PubMed:23820903, PubMed:11435610, PubMed:15769988, PubMed:17635946, PubMed:19141540, PubMed:21664385). Mediates glucocorticoid-induced apoptosis (PubMed:23303127). Promotes accurate chromosome segregation during mitosis (PubMed:25847991). May act as a tumor suppressor (PubMed:25847991). May play a negative role in adipogenesis through the regulation of lipolytic and antilipogenic gene expression (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform Beta: Acts as a dominant negative inhibitor of isoform Alpha (PubMed:7769088, PubMed:8621628, PubMed:20484466). Has intrinsic transcriptional activity independent of isoform Alpha when both isoforms are coexpressed (PubMed:19248771, PubMed:26711253). Loses this transcription modulator function on its own (PubMed:20484466). Has no hormone-binding activity (PubMed:8621628). May play a role in controlling glucose metabolism by maintaining insulin sensitivity (By similarity). Reduces hepatic gluconeogenesis through down-regulation of PEPCK in an isoform Alpha-dependent manner (PubMed:26711253). Directly regulates STAT1 expression in isoform Alpha-independent manner (PubMed:26711253).
UniProtKB/Swiss-Prot Function:
Isoform Alpha-2: Has lower transcriptional activation activity than isoform Alpha. Exerts a dominant negative effect on isoform Alpha trans-repression mechanism (PubMed:20484466).
UniProtKB/Swiss-Prot Function:
Isoform GR-P: Increases activity of isoform Alpha.
UniProtKB/Swiss-Prot Function:
Isoform Alpha-B: More effective than isoform Alpha in transcriptional activation, but not repression activity.
UniProtKB/Swiss-Prot Function:
Isoform 10: Has transcriptional activation activity.
UniProtKB/Swiss-Prot Function:
Isoform Alpha-C1: Has transcriptional activation activity.
UniProtKB/Swiss-Prot Function:
Isoform Alpha-C2: Has transcriptional activation activity.
UniProtKB/Swiss-Prot Function:
Isoform Alpha-C3: Has highest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127). Mediates glucocorticoid-induced apoptosis (PubMed:23303127, PubMed:23820903).
UniProtKB/Swiss-Prot Function:
Isoform Alpha-D1: Has transcriptional activation activity.
UniProtKB/Swiss-Prot Function:
Isoform Alpha-D2: Has transcriptional activation activity.
UniProtKB/Swiss-Prot Function:
Isoform Alpha-D3: Has lowest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127).
UniProtKB/Swiss-Prot Induction:
Isoform Alpha: Up-regulated by TNF (at protein level). Isoform Beta: Up-regulated by TNF and becomes the predominant isoform which may lead to glucocorticoid resistance (at protein level).

Gene Ontology (GO) - Molecular Function for NR3C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 16728402
GO:0001047 core promoter binding IDA 17081986
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 16728402
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA 15769988
genes like me logo Genes that share ontologies with NR3C1: view
genes like me logo Genes that share phenotypes with NR3C1: view

Human Phenotype Ontology for NR3C1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NR3C1 Gene

MGI Knock Outs for NR3C1:

Animal Model Products

  • Taconic Biosciences Mouse Models for NR3C1

CRISPR Products

miRNA for NR3C1 Gene

miRTarBase miRNAs that target NR3C1

Transcription Factor Targets for NR3C1 Gene

Selected GeneGlobe predicted Target genes for NR3C1
Targeted motifs for NR3C1 Gene
HOMER Transcription Factor Regulatory Elements motif NR3C1
  • Consensus sequence: NAGAACAGNCTGTTCT Submotif: IR3 Cell Type: A549 GEO ID: GSE32465

Clone Products

  • Addgene plasmids for NR3C1

No data available for Enzyme Numbers (IUBMB) for NR3C1 Gene

Localization for NR3C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR3C1 Gene

Isoform Alpha: Cytoplasm. Nucleus. Mitochondrion. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=After ligand activation, translocates from the cytoplasm to the nucleus. {ECO:0000269 PubMed:18838540, ECO:0000269 PubMed:27120390, ECO:0000269 PubMed:8621628}.
Isoform Beta: Nucleus. Cytoplasm. Note=Expressed predominantly in the nucleus with some expression also detected in the cytoplasm. {ECO:0000269 PubMed:19248771, ECO:0000269 PubMed:26711253}.
Isoform Alpha-B: Nucleus. Cytoplasm. Note=After ligand activation, translocates from the cytoplasm to the nucleus. {ECO:0000269 PubMed:15866175}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR3C1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
cytoskeleton 4
plasma membrane 2
extracellular 2
peroxisome 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NR3C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,TAS 15769988
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS,IDA 15769988
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS 10887960
genes like me logo Genes that share ontologies with NR3C1: view

Pathways & Interactions for NR3C1 Gene

genes like me logo Genes that share pathways with NR3C1: view

SIGNOR curated interactions for NR3C1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NR3C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 12902338
GO:0006351 transcription, DNA-templated TAS,IDA 17081986
GO:0006355 regulation of transcription, DNA-templated IDA 19141540
GO:0006366 transcription from RNA polymerase II promoter TAS 8621628
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with NR3C1: view

Drugs & Compounds for NR3C1 Gene

(145) Drugs for NR3C1 Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrocortisone Approved, Vet_approved Pharma Agonist, Target, agonist Adrenal glucocorticoid; immunosuppressant 667
Fluticasone propionate Approved Pharma antagonist, Target, agonist Selective high affinity glucocorticoid receptor agonist 0
Mifepristone Approved, Investigational Pharma Agonist, antagonist, Target Progesterone receptor antagonist, Progesterone and glucocorticoid receptor antagonist 155
Prednisolone Approved, Vet_approved Pharma Agonist, binder, Target, agonist 1193
Triamcinolone Approved, Vet_approved Pharma Agonist, binder, Target, agonist 510

(39) Additional Compounds for NR3C1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for NR3C1 Gene

Compound Action Cas Number
Corticosterone Endogenous glucocorticoid 50-22-6
Fluticasone propionate Selective high affinity glucocorticoid receptor agonist 80474-14-2
Hydrocortisone Adrenal glucocorticoid; immunosuppressant 50-23-7
Methylprednisolone Glucocorticoid receptor agonist 83-43-2
Mometasone furoate Synthetic corticosteroid; anti-inflammatory agent 83919-23-7

(24) ApexBio Compounds for NR3C1 Gene

Compound Action Cas Number
Beclomethasone dipropionate Corticosteroid used for asthma and rhinitis 5534-09-8
Betamethasone Glucocorticoid receptor agonist 378-44-9
Betamethasone Dipropionate 5593-20-4
Betamethasone hydrochloride Glucocorticoid receptor agonist 956901-32-9
Betamethasone Valerate 2152-44-5
Budesonide Anti-inflammatory corticosteroid 51333-22-3
Ciclesonide 126544-47-6
Cortisone acetate 1950-04-4
Deflazacort 14484-47-0
Desonide 638-94-8
Dexamethasone acetate 1177-87-3
Flumethasone 2135-17-3
Fluocinolone Acetonide 67-73-2
Fluocinonide 356-12-7
Fluorometholone Acetate 3801-06-7
Fluticasone propionate 80474-14-2
Glucocorticoid receptor agonist 1245526-82-2
GSK 9027 1229096-88-1
Hydrocortisone 50-23-7
Meprednisone 1247-42-3
Methylprednisolone Apoptosis inducer,GR agonist 83-43-2
Mifepristone Progesterone receptor antagonist 84371-65-3
Prednisolone 50-24-8
Triamcinolone 124-94-7
genes like me logo Genes that share compounds with NR3C1: view

Drug Products

Transcripts for NR3C1 Gene

Unigene Clusters for NR3C1 Gene

Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor):
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for NR3C1

Alternative Splicing Database (ASD) splice patterns (SP) for NR3C1 Gene

No ASD Table

Relevant External Links for NR3C1 Gene

GeneLoc Exon Structure for
NR3C1
ECgene alternative splicing isoforms for
NR3C1

Expression for NR3C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NR3C1 Gene

Protein differential expression in normal tissues from HIPED for NR3C1 Gene

This gene is overexpressed in Monocytes (17.3), CD8 Tcells (9.6), and Peripheral blood mononuclear cells (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NR3C1 Gene



Protein tissue co-expression partners for NR3C1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NR3C1 Gene:

NR3C1

SOURCE GeneReport for Unigene cluster for NR3C1 Gene:

Hs.122926

mRNA Expression by UniProt/SwissProt for NR3C1 Gene:

P04150-GCR_HUMAN
Tissue specificity: Widely expressed including bone, stomach, lung, liver, colon, breast, ovary, pancreas and kidney (PubMed:25847991). In the heart, detected in left and right atria, left and right ventricles, aorta, apex, intraventricular septum, and atrioventricular node as well as whole adult and fetal heart (PubMed:10902803). Isoform Beta: Widely expressed including brain, bone marrow, thymus, spleen, liver, kidney, pancreas, lung, fat, skeletal muscle, heart, placenta and blood leukocytes (PubMed:7769088, PubMed:8621628). Isoform Alpha-2: Expressed at low level.

Evidence on tissue expression from TISSUES for NR3C1 Gene

  • Kidney(4.6)
  • Liver(4.6)
  • Nervous system(4.5)
  • Adrenal gland(3.4)
  • Blood(3.2)
  • Lung(3.1)
  • Muscle(2.8)
  • Heart(2.4)
  • Pancreas(2.4)
  • Intestine(2.3)
  • Skin(2.3)
  • Spleen(2.3)
  • Thyroid gland(2.3)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NR3C1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with NR3C1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NR3C1 Gene

Orthologs for NR3C1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NR3C1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NR3C1 34 35
  • 99.7 (n)
cow
(Bos Taurus)
Mammalia GR-A 35
  • 94 (a)
OneToOne
NR3C1 34
  • 91.62 (n)
dog
(Canis familiaris)
Mammalia NR3C1 34 35
  • 91.54 (n)
mouse
(Mus musculus)
Mammalia Nr3c1 34 16 35
  • 89.58 (n)
rat
(Rattus norvegicus)
Mammalia Nr3c1 34
  • 89.15 (n)
oppossum
(Monodelphis domestica)
Mammalia NR3C1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR3C1 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves NR3C1 34 35
  • 74.04 (n)
lizard
(Anolis carolinensis)
Reptilia NR3C1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr3c1 34
  • 69.96 (n)
African clawed frog
(Xenopus laevis)
Amphibia xGR 34
zebrafish
(Danio rerio)
Actinopterygii nr3c1 34 35
  • 58.15 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11855 34
Species where no ortholog for NR3C1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NR3C1 Gene

ENSEMBL:
Gene Tree for NR3C1 (if available)
TreeFam:
Gene Tree for NR3C1 (if available)

Paralogs for NR3C1 Gene

Paralogs for NR3C1 Gene

Pseudogenes.org Pseudogenes for NR3C1 Gene

genes like me logo Genes that share paralogs with NR3C1: view

Variants for NR3C1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for NR3C1 Gene

GCR_HUMAN-P04150
Carriers of the 22-Glu-Lys-23 allele are relatively more resistant to the effects of GCs with respect to the sensitivity of the adrenal feedback mechanism than non-carriers, resulting in a better metabolic health profile. Carriers have a better survival than non-carriers, as well as lower serum CRP levels. The 22-Glu-Lys-23 polymorphism is associated with a sex-specific, beneficial body composition at young-adult age, as well as greater muscle strength in males.

Sequence variations from dbSNP and Humsavar for NR3C1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs104893908 Pathogenic, Glucocorticoid resistance, generalized (GCCR) [MIM:615962] 143,295,561(-) GTACG(A/T)CCAAT reference, missense
rs104893909 Pathogenic, Glucocorticoid resistance, generalized (GCCR) [MIM:615962] 143,300,556(-) GAGGA(A/T)CATGA reference, missense
rs104893910 Pathogenic, Glucocorticoid resistance, generalized (GCCR) [MIM:615962] 143,281,982(-) AGTAT(C/G/T)GAATT intron-variant, reference, synonymous-codon, missense
rs104893912 Pathogenic, Glucocorticoid resistance, generalized (GCCR) [MIM:615962] 143,281,905(-) ACTTC(C/T)GTTTC intron-variant, reference, missense
rs104893913 Pathogenic, Glucocorticoid resistance, generalized (GCCR) [MIM:615962] 143,310,135(-) ATGCC(A/G)CTATC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NR3C1 Gene

Variant ID Type Subtype PubMed ID
esv1001228 CNV deletion 20482838
esv1765773 CNV deletion 17803354
esv1786342 CNV insertion 17803354
esv1954637 CNV deletion 18987734
esv2666615 CNV deletion 23128226
esv2730855 CNV deletion 23290073
esv2730856 CNV deletion 23290073
esv2730857 CNV deletion 23290073
esv2730858 CNV deletion 23290073
esv33748 CNV loss 17666407
esv3607020 CNV loss 21293372
nsv1129750 CNV tandem duplication 24896259
nsv1146130 CNV deletion 26484159
nsv327674 CNV deletion 16902084
nsv327858 CNV deletion 16902084
nsv328009 CNV deletion 16902084
nsv328818 CNV deletion 16902084
nsv5041 CNV deletion 18451855
nsv950421 CNV duplication 24416366
nsv980741 CNV duplication 23825009

Variation tolerance for NR3C1 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.53; 44.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NR3C1 Gene

Human Gene Mutation Database (HGMD)
NR3C1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR3C1

Disorders for NR3C1 Gene

MalaCards: The human disease database

(32) MalaCards diseases for NR3C1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glucocorticoid resistance
  • glucocorticoid resistance, generalized
cushing's syndrome
  • adrenal cortical adenoma
lymphosarcoma
  • diffuse lymphoma
post-traumatic stress disorder
  • traumatic neurosis
nelson syndrome
  • nelson's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NR3C1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GCR_HUMAN
  • Glucocorticoid resistance, generalized (GCCR) [MIM:615962]: An autosomal dominant disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of Cushing syndrome typical signs. Clinical features include hypoglycemia, hypertension, metabolic alkalosis, chronic fatigue and profound anxiety. {ECO:0000269 PubMed:11589680, ECO:0000269 PubMed:11701741, ECO:0000269 PubMed:12050230, ECO:0000269 PubMed:15769988, ECO:0000269 PubMed:1704018, ECO:0000269 PubMed:17635946, ECO:0000269 PubMed:20335448, ECO:0000269 PubMed:21362280, ECO:0000269 PubMed:23426617, ECO:0000269 PubMed:24483153, ECO:0000269 PubMed:26031419, ECO:0000269 PubMed:26541474, ECO:0000269 PubMed:27120390, ECO:0000269 PubMed:7683692}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NR3C1

Genetic Association Database (GAD)
NR3C1
Human Genome Epidemiology (HuGE) Navigator
NR3C1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NR3C1
genes like me logo Genes that share disorders with NR3C1: view

No data available for Genatlas for NR3C1 Gene

Publications for NR3C1 Gene

  1. A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain. (PMID: 20335448) Nader N. … Kino T. (J. Clin. Endocrinol. Metab. 2010) 3 4 22 64
  2. Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia. (PMID: 20015871) te Winkel M.L. … van den Heuvel-Eibrink M.M. (Haematologica 2010) 3 22 46 64
  3. Assessment of SNPs associated with the human glucocorticoid receptor in primary open-angle glaucoma and steroid responders. (PMID: 20376328) Fingert J.H. … Clark A.F. (Mol. Vis. 2010) 3 22 46 64
  4. Glucocorticoid receptor phosphorylation differentially affects target gene expression. (PMID: 18483179) Chen W. … Garabedian M.J. (Mol. Endocrinol. 2008) 3 4 22 64
  5. Glucocorticoid receptor polymorphisms and intraocular pressure response to intravitreal triamcinolone acetonide. (PMID: 19005987) Gerzenstein S.M. … Schwartz S.G. (Ophthalmic Genet. 2008) 3 22 46 64

Products for NR3C1 Gene

  • Addgene plasmids for NR3C1

Sources for NR3C1 Gene

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