Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

NR3C1

Aliases

GCCR, GCR, GCRST, GR, GRL

Entrez Gene ID

2908

Gene Name

Nuclear receptor subfamily 3 group C member 1

Chromosomal Location

5q31.3

HGNC ID

7978

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

NG_009062.1

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

e!Ensembl

Gene	ENSG00000113580
Transcript	ENST00000394464, ENST00000415690, ENST00000504572, ENST00000394466, ENST00000231509, ENST00000652686, ENST00000503201, ENST00000504336, ENST00000510170, ENST00000508760, ENST00000502892, ENST00000514699, ENST00000502500, ENST00000505058, ENST00000503701, ENST00000343796, ENST00000424646
Protein	ENSP00000377977, ENSP00000387672, ENSP00000422518, ENSP00000377979, ENSP00000231509, ENSP00000498663, ENSP00000427672, , ENSP00000424747, ENSP00000425313, ENSP00000420856, ENSP00000426478, ENSP00000425374, ENSP00000343205, ENSP00000405282

SNPs

SNP	SNP ID	Associated disease	References
N363S	rs56149945	Premature pubarche	10068517, 11287026

Gene Ontology (GO)

Show/Hide all(33 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	IDA	1894621
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	IMP	12902338
GO:0006355	Biological process	Regulation of transcription, DNA-templated	IDA	17081986, 19141540
GO:0007165	Biological process	Signal transduction	TAS	7769088
GO:0045892	Biological process	Negative regulation of transcription, DNA-templated	IDA	1894621
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	IC	1894621
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:0000977	Molecular function	RNA polymerase II regulatory region sequence-specific DNA binding	IDA	1894621
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:0001046	Molecular function	Core promoter sequence-specific DNA binding	IDA	17081986
GO:0001227	Molecular function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	1894621
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, 31980649
GO:0019901	Molecular function	Protein kinase binding	IPI	20371704
GO:0051879	Molecular function	Hsp90 protein binding	IPI	26593036
GO:0070491	Molecular function	Repressing transcription factor binding	IBA	21873635
GO:1990239	Molecular function	Steroid hormone binding	IDA	17635946
GO:1990837	Molecular function	Sequence-specific double-stranded DNA binding	IDA	28473536

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

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

UniProt

P04150

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