LMP005329 UniProt Annotations
Gene Name nuclear receptor subfamily 2, group C, member 1 Protein Entry Q505F1_MOUSE UniProt ID Q505F1 Species Mouse
Comment type Description Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1 {ECO:0000269|PubMed:8858600, ECO:0000269|PubMed:9504722, ECO:0000269|PubMed:9694834}; IsoId=Q505F1-1; Sequence=Displayed; Name=2 ; Synonyms=TR2-11-t , TR2-11-truncated ; IsoId=Q505F1-2; Sequence=VSP_051921, VSP_051922; Note=Due to intron retention. ; Developmental Stage Isoform 1 is highly expressed in early to midgestation embryos, with expression leveling off at 15 dpc. Expressed in yolk sac erythrocytes at 9.5 dpc. After birth, expression in the testes remains at a basal level until puberty, begins to increase at postnatal day 16 (P16) and peaks at P20 to P24. Expression is maintained at a high level throughout adulthood. Isoform 2 peaks transiently at P24. {ECO:0000269|PubMed:12093744, ECO:0000269|PubMed:8595902, ECO:0000269|PubMed:8858600, ECO:0000269|PubMed:9071982}. Disruption Phenotype No visible phenotype. Mice exhibit normal spermatogenesis and testis development, as well as normal central nervous system development. NR2C1 and NR2C2 double null mutants result in early embryonic lethality and increased apoptosis. Embryos die around 7.5 dpc. {ECO:0000269|PubMed:12052874, ECO:0000269|PubMed:19131575}. Function Orphan nuclear receptor. Binds the IR7 element in the promoter of its own gene in an autoregulatory negative feedback mechanism. Primarily repressor of a broad range of genes including ESR1 and RARB. Together with NR2C2, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences (By similarity). Also activator of OCT4 gene expression. Plays a fundamental role in early embryogenesis and regulates embryonic stem cell proliferation and differentiation. Mediator of retinoic acid-regulated preadipocyte proliferation. {ECO:0000250, ECO:0000269|PubMed:11463856, ECO:0000269|PubMed:12093744, ECO:0000269|PubMed:16130175, ECO:0000269|PubMed:16317770, ECO:0000269|PubMed:17187077, ECO:0000269|PubMed:17389641, ECO:0000269|PubMed:17431400, ECO:0000269|PubMed:17974920, ECO:0000269|PubMed:19131575, ECO:0000269|PubMed:8530418, ECO:0000269|PubMed:8858600, ECO:0000269|PubMed:9071982, ECO:0000269|PubMed:9774688}. Induction By ciliary neurotrophic factor (CNTF). Repressed by vitamin A. Induced by retinoic acid. {ECO:0000269|PubMed:19131575, ECO:0000269|PubMed:9694834}. Ptm Phosphorylated on several serine and threonine residues. Phosphorylation on Thr-210, stimulated by all-trans retinoic acid (atRA) mediates PML location and sumoylation in proliferating cells which then modulates its association with effector molecules, KAT2B and NRIP1. Phosphorylation on Ser-568 by PKC is important for protein stability and function as activator of RARB. Ptm Sumoylation requires both PIAS1 and UBE2I. Sumoylation appears to dissociate NR2C1 from the PML nuclear bodies. Enhances the interaction with NRIP1 but inhibits interaction with KAT2B. In proliferating cells, stimulation by all-trans retinoic acid, activation of MAPK1-mediated phosphorylation and recruitment to PML bodies with subsequent sumoylation, suppresses OCT4 expression. Similarity Belongs to the nuclear hormone receptor family. NR2 subfamily. Similarity Contains 1 nuclear receptor DNA-binding domain. Subcellular Location Nucleus. Nucleus, PML body. Note=Recruited by HDAC3, after all-trans retinoic acid stimulated MAPK1-mediated Thr-210 phosphorylation, to PML bodies for subsequent sumoylation. Subunit Homodimer. Heterodimer; with NR2C2 which is required for chromatin remodeling and for binding to promoter regions such as globin DR1 repeats. Interacts with ESR1; the interaction prevents homodimerization of ESR1 and suppresses its transcriptional activity and cell growth (By similarity). Interacts with NRIP1 (via its LXXLL motifs); the interaction provides corepressor activity. Interacts with HDAC3 (via the DNA-binding domain); the interaction recruits phosphorylated NR2C1 to PML bodies for sumoylation. Interacts with HDAC4 (via the DNA-binding domain). Interacts with PIAS1; the interaction is required for sumoylation of NR2C1. Interacts with UBE2I; the interaction is required for sumoylation of NR2C1. Interacts with KAT2B; the interaction acts as a corepressor of gene expression. {ECO:0000250, ECO:0000269|PubMed:11463856, ECO:0000269|PubMed:16317770, ECO:0000269|PubMed:17187077, ECO:0000269|PubMed:18682553, ECO:0000269|PubMed:19204783, ECO:0000269|PubMed:9774688}. Tissue Specificity Isoform 1 is highly expressed in the adlumenal compartment of the seminiferous tubule of adult testes (at protein level) and in the eyes of newborn animals. Weakly expressed in other adult organs including the seminal vesicle, prostate, ovary, adrenal gland, heart, thymus, placenta and brain. Expressed during embryonic stages in developing eyes, brain and cartilage primordia (at protein level). Also expressed in the developing spinal motor neurons and in the sympathetic-, parasympathetic- and sensory ganglia of the embryonic PNS. Expressed in the developing neural epithelia of the inner ear, nasal cavity, tongue and retina. At day 16.5, expressed in various tissues including kidney and intestine. In contrast, isoform 2 is widely expressed at a low level throughout the adult testis. {ECO:0000269|PubMed:12052874, ECO:0000269|PubMed:8530418, ECO:0000269|PubMed:8595902, ECO:0000269|PubMed:8858600, ECO:0000269|PubMed:9071982, ECO:0000269|PubMed:9504722, ECO:0000269|PubMed:9694834}.
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