NR3C1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NR3C1 |
| Official Name | nuclear receptor subfamily 3 group C member 1 [Source:HGNC Symbol;Acc:HGNC:7978] |
| Ensembl ID | ENSG00000113580 |
| Bio databases IDs | |
| Aliases | nuclear receptor subfamily 3 group C member 1 |
| Synonyms | GCCR, GCR, GCR alpha, GCRST, GCR α, Glucocorticoid receptor, Glucocorticoid receptor α-2, GR, GR-A, Gr alpha, Gr beta, GRL, Grl-1, Gr α, Gr β, nuclear receptor subfamily 3 group C member 1, nuclear receptor subfamily 3, group C, member 1, Type ii corticosteroid receptor |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NR3C1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- zinc finger DNA binding domain
- Hsp70 protein binding
- HSP90 binding domain
- identical protein binding
- TATA-binding protein binding
- hormone binding domain
- Tau2 domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- nuclear receptor ligand binding domain
- receptor tyrosine kinase binding
- ligand-dependent nuclear receptor
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- hormone binding
- protein kinase binding
- DNA binding domain
- nucleic acid binding
- protein binding
- sequence-specific DNA binding
- PEST domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- steroid-binding domain
- minimal transactivation domain
- hinge domain
- transcription factor activity
- LXXLL motif
- transcription regulator
- transcription co-activator
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- heat shock protein binding
- transcription activation domain
- AF-2 transcription activation domain
- chromatin binding
- zinc binding domain
- AF-1 domain
- zinc ion binding
- ligand-binding domain
- heat shock protein binding domain
- dimerization domain
- nuclear localization sequence
- helical domain
- DNA binding
- tau1-core domain
- phosphorylation site
- steroid binding
- transcription repression domain
- binding protein
- double-stranded DNA binding
- zinc finger domain
- Ligand-binding domain of nuclear hormone receptor
- glucocorticoid receptor
Pathways
Biological processes and signaling networks where the NR3C1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- hepatic steatosis
- neoplasia
- diabetic retinopathy
- colorectal cancer
- HIV infection
- infection
- hepatitis
- chronic infection
- hepatocellular carcinoma
role in cell
- number
- quantity
- expression in
- apoptosis
- synaptic transmission
- inhibition in
- production in
- transcription in
- growth
- phosphorylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- interchromatin granule cluster fractions
- nuclear fraction
- glutaminergic synapse
- organelle
- Cytoplasm
- cell surface
- intracellular space
- intranuclear region
- perinuclear region
- cellular membrane
- Plasma Membrane
- Mitochondria
- cytosol
- caveolar membranes
- mitochondrial matrix
- nucleoplasm
- nuclear speckles
- dendritic spines
- chromatin
- perikaryon
- plasma
- cytoplasmic fraction
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NR3C1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- microglia differentiation
- chromosome segregation
- mammary gland duct morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- chromatin organization
- glucocorticoid mediated signaling pathway
- positive regulation of neuron apoptotic process
- maternal behavior
- cell division
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription, DNA-dependent
- apoptotic process
- adrenal gland development
- glucocorticoid receptor signaling pathway
- astrocyte differentiation
- signal transduction
- regulation of transcription, DNA-dependent
- glucocorticoid metabolic process
- regulation of gluconeogenesis
- regulation of transcription from RNA polymerase II promoter
- cellular response to steroid hormone stimulus
- cellular response to transforming growth factor beta stimulus
- regulation of glucocorticoid biosynthetic process
- intracellular steroid hormone receptor signaling pathway
- cellular response to glucocorticoid stimulus
- gene expression
- cellular response to dexamethasone stimulus
- synaptic transmission, glutamatergic
Cellular Component
Where in the cell the gene product is active
- nuclear speck
- synapse
- chromatin
- nucleoplasm
- nucleus
- centrosome
- cytoplasm
- mitochondrial matrix
- membrane
- spindle
- cytosol
- macromolecular complex
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- identical protein binding
- zinc ion binding
- estrogen response element binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- steroid binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- glucocorticoid receptor activity
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- core promoter sequence-specific DNA binding
- sequence-specific DNA binding transcription factor activity
- RNA binding
- protein binding
- ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
- Hsp90 protein binding
- TBP-class protein binding