COUP-TFI

NR2F1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2EBL
Identifiers
Aliases	NR2F1, BBOAS, BBSOAS, COUP-TFI, EAR-3, EAR3, ERBAL3, NR2F2, SVP44, TCFCOUP1, TFCOUP1, nuclear receptor subfamily 2 group F member 1, COUPTF1
External IDs	OMIM: 132890; MGI: 1352451; HomoloGene: 21158; GeneCards: NR2F1; OMA:NR2F1 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	93,594,611 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	78,347,876 bp
RNA expression pattern
	Top expressed in
	ventricular zone; ; optic nerve; ; seminal vesicula; ; trigeminal ganglion; ; left uterine tube; ; germinal epithelium; ; ganglionic eminence; ; parietal pleura; ; lower lobe of lung; ; primary visual cortex;
	Top expressed in
	vestibular membrane of cochlear duct; ; lateral geniculate nucleus; ; anterior amygdaloid area; ; barrel cortex; ; medial dorsal nucleus; ; ventricular zone; ; vas deferens; ; saccule; ; ciliary body; ; subiculum;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	DNA-binding transcription factor activity; steroid hormone receptor activity; sequence-specific DNA binding; transcription coactivator activity; DNA binding; nuclear receptor activity; zinc ion binding; protein binding; metal ion binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; DNA-binding transcription factor activity, RNA polymerase II-specific; retinoic acid-responsive element binding;
Cellular component	nucleus; nucleoplasm; cytosol;
Biological process	transcription initiation from RNA polymerase II promoter; regulation of transcription, DNA-templated; negative regulation of transcription by RNA polymerase II; transcription, DNA-templated; signal transduction; steroid hormone mediated signaling pathway; intracellular receptor signaling pathway; positive regulation of nucleic acid-templated transcription; nervous system development; negative regulation of neuron projection development; positive regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	7025
	13865
	ENSG00000175745
	ENSMUSG00000069171
	P10589
	Q60632
	NM_005654
	NM_010151; NM_001347538; NM_001347539
	NP_005645
NP_001334467; NP_001334468; NP_034281; NP_001390702; NP_001390704;
	NP_001390706
	Wikidata
View/Edit Human	View/Edit Mouse

COUP-TF1 (COUP Transcription Factor 1) also known as NR2F1 (Nuclear Receptor subfamily 2, group F, member 1) is a protein that in humans is encoded by the NR2F1 gene.⁵⁶ This protein is an orphan nuclear receptor, but studies suggest that it acts as a key transcription regulator in the early embryonic development of the eye and optical nervous system.⁷

Function

Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription.⁸⁹ COUP-TF1 binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif.¹⁰

Interactions

COUP-TFI has been shown to interact with:

BCL11A,¹¹
BCL11B,¹¹
COPS2,¹² and
ESR1.¹³

Clinical

Mutations in this gene have been associated with Bosch-Boonstra-Schaaf optic atrophy syndrome.¹⁴

References

GRCh38: Ensembl release 89: ENSG00000175745 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000069171 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: NR2F1 nuclear receptor subfamily 2, group F, member 1".
Qiu Y, Krishnan V, Zeng Z, Gilbert DJ, Copeland NG, Gibson L, Yang-Feng T, Jenkins NA, Tsai MJ, Tsai SY (Sep 1995). "Isolation, characterization, and chromosomal localization of mouse and human COUP-TF I and II genes". Genomics. 29 (1): 240–6. doi:10.1006/geno.1995.1237. PMID 8530078.
Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N (2021). "Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model". Brain communications. 3 (3). doi:10.1093/braincomms/fcab162. PMC 8397830.
Sagami I, Tsai SY, Wang H, Tsai MJ, O'Malley BW (Dec 1986). "Identification of two factors required for transcription of the ovalbumin gene". Molecular and Cellular Biology. 6 (12): 4259–67. doi:10.1128/MCB.6.12.4259. PMC 367207. PMID 3796602.
Tsai SY, Sagami I, Wang H, Tsai MJ, O'Malley BW (Aug 1987). "Interactions between a DNA-binding transcription factor (COUP) and a non-DNA binding factor (S300-II)". Cell. 50 (5): 701–9. doi:10.1016/0092-8674(87)90328-X. PMID 3040258. S2CID 25136877.
Tsai SY, Tsai MJ (Apr 1997). "Chick ovalbumin upstream promoter-transcription factors (COUP-TFs): coming of age". Endocrine Reviews. 18 (2): 229–40. doi:10.1210/edrv.18.2.0294. PMID 9101138.
Avram D, Fields A, Pretty On Top K, Nevrivy DJ, Ishmael JE, Leid M (Apr 2000). "Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors". The Journal of Biological Chemistry. 275 (14): 10315–22. doi:10.1074/jbc.275.14.10315. PMC 2819356. PMID 10744719.
Dressel U, Thormeyer D, Altincicek B, Paululat A, Eggert M, Schneider S, Tenbaum SP, Renkawitz R, Baniahmad A (May 1999). "Alien, a highly conserved protein with characteristics of a corepressor for members of the nuclear hormone receptor superfamily". Molecular and Cellular Biology. 19 (5): 3383–94. doi:10.1128/mcb.19.5.3383. PMC 84131. PMID 10207062.
Métivier R, Gay FA, Hübner MR, Flouriot G, Salbert G, Gannon F, Kah O, Pakdel F (Jul 2002). "Formation of an hER alpha-COUP-TFI complex enhances hER alpha AF-1 through Ser118 phosphorylation by MAPK". The EMBO Journal. 21 (13): 3443–53. doi:10.1093/emboj/cdf344. PMC 126093. PMID 12093745.
Hobbs MM, Wolters WC, Rayapati AO (2020) Bosch-Boonstra-Schaaf optic atrophy syndrome presenting as new-onset psychosis in a 32-year-old man: A case report and literature review. J Psychiatr Pract 26(1):58-62

External links

Human NR2F1 genome location and NR2F1 gene details page in the UCSC Genome Browser.
Human NR2F2 genome location and NR2F2 gene details page in the UCSC Genome Browser.

Further reading

Kliewer SA, Umesono K, Heyman RA, Mangelsdorf DJ, Dyck JA, Evans RM (Feb 1992). "Retinoid X receptor-COUP-TF interactions modulate retinoic acid signaling". Proceedings of the National Academy of Sciences of the United States of America. 89 (4): 1448–52. Bibcode:1992PNAS...89.1448K. doi:10.1073/pnas.89.4.1448. PMC 48468. PMID 1311101.
Berrodin TJ, Marks MS, Ozato K, Linney E, Lazar MA (Sep 1992). "Heterodimerization among thyroid hormone receptor, retinoic acid receptor, retinoid X receptor, chicken ovalbumin upstream promoter transcription factor, and an endogenous liver protein". Molecular Endocrinology. 6 (9): 1468–78. doi:10.1210/mend.6.9.1331778. PMID 1331778. S2CID 24291055.
Ing NH, Beekman JM, Tsai SY, Tsai MJ, O'Malley BW (Sep 1992). "Members of the steroid hormone receptor superfamily interact with TFIIB (S300-II)". The Journal of Biological Chemistry. 267 (25): 17617–23. doi:10.1016/S0021-9258(19)37087-5. PMID 1517211.
Wang LH, Tsai SY, Cook RG, Beattie WG, Tsai MJ, O'Malley BW (Jul 1989). "COUP transcription factor is a member of the steroid receptor superfamily". Nature. 340 (6229): 163–6. Bibcode:1989Natur.340..163W. doi:10.1038/340163a0. PMID 2739739. S2CID 4364164.
Miyajima N, Kadowaki Y, Fukushige S, Shimizu S, Semba K, Yamanashi Y, Matsubara K, Toyoshima K, Yamamoto T (Dec 1988). "Identification of two novel members of erbA superfamily by molecular cloning: the gene products of the two are highly related to each other". Nucleic Acids Research. 16 (23): 11057–74. doi:10.1093/nar/16.23.11057. PMC 338996. PMID 2905047.
Sawaya BE, Rohr O, Aunis D, Schaeffer E (Sep 1996). "Chicken ovalbumin upstream promoter transcription factor, a transcriptional activator of HIV-1 gene expression in human brain cells". The Journal of Biological Chemistry. 271 (38): 23572–6. doi:10.1074/jbc.271.38.23572. PMID 8798567.
Rohr O, Aunis D, Schaeffer E (Dec 1997). "COUP-TF and Sp1 interact and cooperate in the transcriptional activation of the human immunodeficiency virus type 1 long terminal repeat in human microglial cells". The Journal of Biological Chemistry. 272 (49): 31149–55. doi:10.1074/jbc.272.49.31149. PMID 9388268.
Dressel U, Thormeyer D, Altincicek B, Paululat A, Eggert M, Schneider S, Tenbaum SP, Renkawitz R, Baniahmad A (May 1999). "Alien, a highly conserved protein with characteristics of a corepressor for members of the nuclear hormone receptor superfamily". Molecular and Cellular Biology. 19 (5): 3383–94. doi:10.1128/mcb.19.5.3383. PMC 84131. PMID 10207062.
Klinge CM, Kaur K, Swanson HI (Jan 2000). "The aryl hydrocarbon receptor interacts with estrogen receptor alpha and orphan receptors COUP-TFI and ERRalpha1". Archives of Biochemistry and Biophysics. 373 (1): 163–74. doi:10.1006/abbi.1999.1552. PMID 10620335.
Rohr O, Schwartz C, Hery C, Aunis D, Tardieu M, Schaeffer E (Jan 2000). "The nuclear receptor chicken ovalbumin upstream promoter transcription factor interacts with HIV-1 Tat and stimulates viral replication in human microglial cells". The Journal of Biological Chemistry. 275 (4): 2654–60. doi:10.1074/jbc.275.4.2654. PMID 10644726.
Sugiyama T, Wang JC, Scott DK, Granner DK (Feb 2000). "Transcription activation by the orphan nuclear receptor, chicken ovalbumin upstream promoter-transcription factor I (COUP-TFI). Definition of the domain involved in the glucocorticoid response of the phosphoenolpyruvate carboxykinase gene". The Journal of Biological Chemistry. 275 (5): 3446–54. doi:10.1074/jbc.275.5.3446. PMID 10652338.
Vlahou A, Flytzanis CN (Feb 2000). "Subcellular trafficking of the nuclear receptor COUP-TF in the early embryonic cell cycle". Developmental Biology. 218 (2): 284–98. doi:10.1006/dbio.1999.9456. PMID 10656770.
Avram D, Fields A, Pretty On Top K, Nevrivy DJ, Ishmael JE, Leid M (Apr 2000). "Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors". The Journal of Biological Chemistry. 275 (14): 10315–22. doi:10.1074/jbc.275.14.10315. PMC 2819356. PMID 10744719.
Gay F, Anglade I, Gong Z, Salbert G (Oct 2000). "The LIM/homeodomain protein islet-1 modulates estrogen receptor functions". Molecular Endocrinology. 14 (10): 1627–48. doi:10.1210/me.14.10.1627. PMID 11043578.
You M, Fischer M, Cho WK, Crabb D (Feb 2002). "Transcriptional control of the human aldehyde dehydrogenase 2 promoter by hepatocyte nuclear factor 4: inhibition by cyclic AMP and COUP transcription factors". Archives of Biochemistry and Biophysics. 398 (1): 79–86. doi:10.1006/abbi.2001.2713. PMID 11811951.
Lin F, Kolluri SK, Chen GQ, Zhang XK (Jun 2002). "Regulation of retinoic acid-induced inhibition of AP-1 activity by orphan receptor chicken ovalbumin upstream promoter-transcription factor". The Journal of Biological Chemistry. 277 (24): 21414–22. doi:10.1074/jbc.M201885200. PMID 11934895.
Métivier R, Gay FA, Hübner MR, Flouriot G, Salbert G, Gannon F, Kah O, Pakdel F (Jul 2002). "Formation of an hER alpha-COUP-TFI complex enhances hER alpha AF-1 through Ser118 phosphorylation by MAPK". The EMBO Journal. 21 (13): 3443–53. doi:10.1093/emboj/cdf344. PMC 126093. PMID 12093745.
Yu X, Mertz JE (Feb 2003). "Distinct modes of regulation of transcription of hepatitis B virus by the nuclear receptors HNF4alpha and COUP-TF1". Journal of Virology. 77 (4): 2489–99. doi:10.1128/JVI.77.4.2489-2499.2003. PMC 141100. PMID 12551987.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000175745 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000069171 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: NR2F1 nuclear receptor subfamily 2, group F, member 1".

[pmid8530078-6] Qiu Y, Krishnan V, Zeng Z, Gilbert DJ, Copeland NG, Gibson L, Yang-Feng T, Jenkins NA, Tsai MJ, Tsai SY (Sep 1995). "Isolation, characterization, and chromosomal localization of mouse and human COUP-TF I and II genes". Genomics. 29 (1): 240–6. doi:10.1006/geno.1995.1237. PMID 8530078.

[7] Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N (2021). "Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model". Brain communications. 3 (3). doi:10.1093/braincomms/fcab162. PMC 8397830.

[pmid3796602-8] Sagami I, Tsai SY, Wang H, Tsai MJ, O'Malley BW (Dec 1986). "Identification of two factors required for transcription of the ovalbumin gene". Molecular and Cellular Biology. 6 (12): 4259–67. doi:10.1128/MCB.6.12.4259. PMC 367207. PMID 3796602.

[pmid3040258-9] Tsai SY, Sagami I, Wang H, Tsai MJ, O'Malley BW (Aug 1987). "Interactions between a DNA-binding transcription factor (COUP) and a non-DNA binding factor (S300-II)". Cell. 50 (5): 701–9. doi:10.1016/0092-8674(87)90328-X. PMID 3040258. S2CID 25136877.

[pmid9101138-10] Tsai SY, Tsai MJ (Apr 1997). "Chick ovalbumin upstream promoter-transcription factors (COUP-TFs): coming of age". Endocrine Reviews. 18 (2): 229–40. doi:10.1210/edrv.18.2.0294. PMID 9101138.

[pmid10744719-11] Avram D, Fields A, Pretty On Top K, Nevrivy DJ, Ishmael JE, Leid M (Apr 2000). "Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors". The Journal of Biological Chemistry. 275 (14): 10315–22. doi:10.1074/jbc.275.14.10315. PMC 2819356. PMID 10744719.

[pmid10207062-12] Dressel U, Thormeyer D, Altincicek B, Paululat A, Eggert M, Schneider S, Tenbaum SP, Renkawitz R, Baniahmad A (May 1999). "Alien, a highly conserved protein with characteristics of a corepressor for members of the nuclear hormone receptor superfamily". Molecular and Cellular Biology. 19 (5): 3383–94. doi:10.1128/mcb.19.5.3383. PMC 84131. PMID 10207062.

[pmid12093745-13] Métivier R, Gay FA, Hübner MR, Flouriot G, Salbert G, Gannon F, Kah O, Pakdel F (Jul 2002). "Formation of an hER alpha-COUP-TFI complex enhances hER alpha AF-1 through Ser118 phosphorylation by MAPK". The EMBO Journal. 21 (13): 3443–53. doi:10.1093/emboj/cdf344. PMC 126093. PMID 12093745.

[Hobbs2020-14] Hobbs MM, Wolters WC, Rayapati AO (2020) Bosch-Boonstra-Schaaf optic atrophy syndrome presenting as new-onset psychosis in a 32-year-old man: A case report and literature review. J Psychiatr Pract 26(1):58-62

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