Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2908
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol NR3C1   Gene   UCSC   Ensembl
Aliases GCCR, GCR, GCRST, GR, GRL
Gene name nuclear receptor subfamily 3 group C member 1
Alternate names glucocorticoid receptor, glucocorticoid nuclear receptor variant 1, nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor),
Gene location 5q31.3 (143435511: 143277930)     Exons: 15     NC_000005.10
Gene summary(Entrez) 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]
OMIM 138040

Protein Summary
Protein general information P04150  

Name: Glucocorticoid receptor (GR) (Nuclear receptor subfamily 3 group C member 1)

Length: 777  Mass: 85,659

Tissue specificity: Widely expressed including bone, stomach, lung, liver, colon, breast, ovary, pancreas and kidney (PubMed

Sequence MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQ
PDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAA
PTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLL
SPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTV
YCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNL
TSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVE
GQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATL
PQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSW
MFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSV
PKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFP
EMLAEIITNQIPKYSNGNIKKLLFHQK
Structural information
Interpro:  IPR001409 IPR000536 IPR001723 IPR001628 IPR013088
Prosite:   PS00031 PS51030

Pfam:  		 PF02155 PF00104 PF00105

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
PDBsum:   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

DIP:  		 576
MINT:   150603
STRING:   ENSP00000231509;
Other Databases GeneCards:  NR3C1;  Malacards:  NR3C1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003723 RNA binding
 IEA molecular_function
GO:0004883 glucocorticoid receptor a
ctivity
 TAS molecular_function
GO:0005496 steroid binding
 IDA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005654 nucleoplasm
 IDA cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005815 microtubule organizing ce
nter
 IEA cellular_component
GO:0005819 spindle
 IEA cellular_component
GO:0006351 transcription, DNA-templa
ted
 TAS biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IDA biological_process
GO:0006366 transcription from RNA po
lymerase II promoter
 TAS biological_process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological_process
GO:0006915 apoptotic process
 IEA biological_process
GO:0007059 chromosome segregation
 IEA biological_process
GO:0007067 mitotic nuclear division
 IEA biological_process
GO:0007165 signal transduction
 TAS biological_process
GO:0008270 zinc ion binding
 IEA molecular_function
GO:0038051 glucocorticoid-activated
RNA polymerase II transcr
iption factor binding tra
nscription factor activit
y
 IDA molecular_function
GO:0042921 glucocorticoid receptor s
ignaling pathway
 IEA biological_process
GO:0043402 glucocorticoid mediated s
ignaling pathway
 IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0051301 cell division
 IEA biological_process
GO:0071383 cellular response to ster
oid hormone stimulus
 IDA biological_process
GO:0071383 cellular response to ster
oid hormone stimulus
 IDA biological_process
GO:1990239 steroid hormone binding
 IDA molecular_function
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular_function
GO:0003677 DNA binding
 IEA molecular_function
GO:0003677 DNA binding
 IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 TAS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 TAS molecular_function
GO:0003707 steroid hormone receptor
activity
 IEA molecular_function
GO:0003723 RNA binding
 IEA molecular_function
GO:0004883 glucocorticoid receptor a
ctivity
 IEA molecular_function
GO:0004883 glucocorticoid receptor a
ctivity
 TAS molecular_function
GO:0005496 steroid binding
 IEA molecular_function
GO:0005496 steroid binding
 IEA molecular_function
GO:0005496 steroid binding
 IDA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 TAS cellular_component
GO:0005654 nucleoplasm
 IDA cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 TAS cellular_component
GO:0005739 mitochondrion
 IEA cellular_component
GO:0005739 mitochondrion
 IEA cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005815 microtubule organizing ce
nter
 IEA cellular_component
GO:0005819 spindle
 IEA cellular_component
GO:0005856 cytoskeleton
 IEA cellular_component
GO:0006351 transcription, DNA-templa
ted
 IEA biological_process
GO:0006351 transcription, DNA-templa
ted
 TAS biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IDA biological_process
GO:0006366 transcription from RNA po
lymerase II promoter
 TAS biological_process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological_process
GO:0006915 apoptotic process
 IEA biological_process
GO:0007049 cell cycle
 IEA biological_process
GO:0007059 chromosome segregation
 IEA biological_process
GO:0007067 mitotic nuclear division
 IEA biological_process
GO:0007165 signal transduction
 TAS biological_process
GO:0008270 zinc ion binding
 IEA molecular_function
GO:0008289 lipid binding
 IEA molecular_function
GO:0038051 glucocorticoid-activated
RNA polymerase II transcr
iption factor binding tra
nscription factor activit
y
 IDA molecular_function
GO:0042921 glucocorticoid receptor s
ignaling pathway
 IEA biological_process
GO:0043401 steroid hormone mediated
signaling pathway
 IEA biological_process
GO:0043402 glucocorticoid mediated s
ignaling pathway
 IEA biological_process
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular_function
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0051301 cell division
 IEA biological_process
GO:0071383 cellular response to ster
oid hormone stimulus
 IDA biological_process
GO:0071383 cellular response to ster
oid hormone stimulus
 IDA biological_process
GO:1990239 steroid hormone binding
 IDA molecular_function
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 TAS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 TAS molecular_function
GO:0004883 glucocorticoid receptor a
ctivity
 TAS molecular_function
GO:0005496 steroid binding
 IDA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005634 nucleus
 TAS cellular_component
GO:0005654 nucleoplasm
 IDA cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 TAS cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0006351 transcription, DNA-templa
ted
 TAS biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IDA biological_process
GO:0006366 transcription from RNA po
lymerase II promoter
 TAS biological_process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological_process
GO:0007165 signal transduction
 TAS biological_process
GO:0038051 glucocorticoid-activated
RNA polymerase II transcr
iption factor binding tra
nscription factor activit
y
 IDA molecular_function
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0071383 cellular response to ster
oid hormone stimulus
 IDA biological_process
GO:0071383 cellular response to ster
oid hormone stimulus
 IDA biological_process
GO:1990239 steroid hormone binding
 IDA molecular_function

KEGG pathways

hsa04080  Neuroactive ligand-receptor interaction

Diseases

Associated diseases References
Addison's disease PMID: 19282465
Asthma PMID: 15497438
Atherosclerosis PMID: 11711524
Atopic asthma PMID: 11739132
Bipolar disorder PMID: 19133972
Cancer PMID: 20015871
Celiac disease PMID: 15713213
Chronic fatigue syndrome PMID: 16610949
Chronic kidney failure PMID: 19578796
Congenital adrenal hyperplasia PMID: 19174530
Crohn's disease PMID: 19429432
Depression PMID: 19548263
Diabetes PMID: 18983327
Endometrial cancer PMID: 18783612
Endometriosis PMID: 20199104
Female pseudohermaphroditism PMID: 11932321
Glucocorticoid-induced osteonecrosis KEGG: H01709
Guillain-Barre Syndrome PMID: 19691529
HELLP syndrome PMID: 19336230
Hyperandrogenism PMID: 11287026
Male infertility PMID: 26027266
Metabolic syndrome PMID: 16855182
Mood disorders PMID: 19089807
Multiple sclerosis PMID: 19318444
Nelson's syndrome PMID: 8550738
Nephrotic syndrome PMID: 14733805
Non-obstructive azoospermia (NOA) PMID: 26556219
Obesity PMID: 12843156
Endometriosis INFBASE20199104
Osteoporosis PMID: 15698551
Polycystic ovary syndrome (PCOS) PMID: 11119758
Psychiatric disorders PMID: 19086053
Recurrent miscarriage PMID: 20716560
Retinal diseases PMID: 19005987
Rheumatoid arthritis PMID: 18830906
Schizophrenia PMID: 18838498
Stress disorder PMID: 14764763
Systemic lupus erythematosus PMID: 15212141

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
20199104 Endometrio
sis

Female infertility PRDX6
CORO1A
TAGLN2
VIM
CFTR
GCR
HSF1
 Show abstract