Recombinant Human COUP transcription factor 1 (NR2F1)

1. Whole-exome sequencing identified a novel missense NR2F1 variant in each case, Cys86Phe in the DNA-binding domain in Case 1, and a Leu372Pro in the ligand-binding domain in Case 2. Using molecular modeling we are also able to demonstrate the putative effect of the two missenses on protein function, generating a hitherto undescribed molecular model for the ligand-binding domain of NR2F1 in the process. PMID: 28963436
2. fifth of COUP-TFI cells also co-expressed COUP-TFII, and cells expressing either transcription factor followed posterior or anterio-lateral pathways into the cortex PMID: 28922831
3. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)encompasses a broad range of clinical phenotypes. Functional studies help determine the severity of novel NR2F1 variants. Some genotype-phenotype correlations seem to exist, with missense mutations in the DNA-binding domain causing the most severe phenotypes PMID: 26986877
4. COUP-TFII is expressed in a diverse subset of GABAergic interneurons predominantly innervating small dendritic shafts originating from both interneurons and pyramidal cells. PMID: 25787832
5. our mechanistic in vitro assays and in vivo results suggest that a reduction in chemokine CXCL12 expression, with an enhancement of CXCR4 expression, provoked by COUP-TFI, could be associated with an increase in the invasive potential of breast cancer PMID: 24906407
6. NR2F1 has an important role in the development of the visual system and that haploinsuffiency can lead to optic atrophy with intellectual impairment. PMID: 24462372
7. Interaction of NSD1 with the NR2E/F subfamily including COUP-TFI, COUP-TFII, EAR2 and TLX requires an F/YSXXLXXL/Y motif. Interactions of NSD1 with liganded NRs require an overlapping LXXLL motif. PMID: 23975195
8. COUP-TFI and related NRs such as the COUPTFs and PNR can selectively associate with the developmental corepressor BCL11A via a conserved motif F/YSXXLXXL/Y within the RID1 and RID2 domains. The interaction with BCL11A facilitates COUP-TFII-mediated repression of the RARb2 gene. PMID: 23975195
9. study identifies two unique corticotroph tumor populations which differ in their expression of COUP-TFI, the presence of which occurs more frequently in macroadenomas. PMID: 19526345
10. provide detailed experimental validation of each step and, as a proof of principle, utilize the methodology to identify novel direct targets of the orphan nuclear receptor NR2F1 (COUP-TFI) PMID: 20111703
11. Transcriptional and posttranscriptional mechanisms involving NR2F1 and IRE1beta ensure low microsomal triglyceride transfer protein expression in undifferentiated intestinal cells and avoid apolipoprotein B lipoprotein biosynthesis. PMID: 20007910
12. Inhibit aldehyde dehydrogenase 2 gene expression PMID: 11811951
13. Regulation of retinoic acid-induced inhibition of AP-1 activity by orphan receptor chicken ovalbumin upstream promoter-transcription factor. PMID: 11934895
14. Formation of an hER alpha-COUP-TFI complex enhances hER alpha AF-1 through Ser118 phosphorylation by MAPK. PMID: 12093745
15. regulates transcription of hepatitis B virus PMID: 12551987
16. Transcription of the LHR gene is repressed by EAR3. PMID: 12972613
17. COUP-TF may be involved in repression of the human MGP gene promoter at the myoblast stage PMID: 15157742
18. findings show that enhancer II of HBV genotype A is also repressed by COUP-TF1; in contrast, two different enhancer II constructs of HBV genotype D were activated by COUP-TF1 PMID: 17009409
19. COUP-TFI selectively regulates the expression of endogenous E2-target genes and consequently modifies ER alpha positive mammary cells response to E2. PMID: 17674191
20. Regulation of vascular endothelial growth factor D by hepatocyte nuclear factor-4 alpha and chicken ovalbumin upstream promoter transcription factors 1 and 2. PMID: 18199540
21. A chicken ovalbumin upstream promoter transcription factor I (COUP-TFI) complex represses expression of the gene encoding tumor necrosis factor alpha-induced protein 8 (TNFAIP8). PMID: 19112178

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HGNC: 7975

OMIM: 132890

KEGG: hsa:7025

STRING: 9606.ENSP00000325819

UniGene: Hs.519445