COUP-TFI: Difference between revisions

Latest revision as of 21:36, 27 December 2024

COUP-TFI (Chicken Ovalbumin Upstream Promoter-Transcription Factor I), also known as NR2F1, is a nuclear receptor that plays a crucial role in the regulation of gene expression during development and cell differentiation.

Function[edit]

COUP-TFI is a member of the nuclear receptor family of intracellular transcription factors. It is involved in the regulation of several biological processes, including neurogenesis, organogenesis, and metabolism. COUP-TFI functions by binding to specific DNA sequences known as response elements, thereby modulating the transcription of target genes.

Role in Development[edit]

During embryonic development, COUP-TFI is essential for the proper formation of the central nervous system and the peripheral nervous system. It regulates the expression of genes involved in neuronal differentiation and axon guidance. COUP-TFI is also implicated in the development of the cardiovascular system and the limbs.

Clinical Significance[edit]

Mutations or dysregulation of COUP-TFI have been associated with various developmental disorders and diseases. For instance, alterations in COUP-TFI expression have been linked to congenital heart defects, intellectual disability, and autism spectrum disorders.

Interactions[edit]

COUP-TFI interacts with other transcription factors and co-regulators to exert its effects on gene expression. It can form heterodimers with other nuclear receptors, such as RXR (Retinoid X Receptor), to enhance or repress the transcription of target genes.

Research[edit]

Ongoing research is focused on understanding the precise mechanisms by which COUP-TFI regulates gene expression and its role in disease pathogenesis. Studies are also exploring the potential of targeting COUP-TFI for therapeutic interventions in diseases where its function is disrupted.

References[edit]

External Links[edit]

[COUP-TFI at the US National Library of Medicine Medical Subject Headings (MeSH)]
[NR2F1 gene information at NCBI]

@@ Line 1: / Line 1: @@
-'''COUP-TFI'''
-[[File:COUP-TFI.png|thumb|right|COUP-TFI protein structure]]
+{{Infobox protein
+| name = COUP-TFI
+| image = <!-- Image removed -->
+| caption = <!-- Image caption -->
+| symbol = NR2F1
+| alt_symbols = COUP-TF1, EAR-3
+| EntrezGene = 7025
+| HGNCid = 7979
+| OMIM = 600161
+| RefSeq = NM_005654
+| UniProt = P10589
+| PDB = 1H9F
+}}
-'''COUP-TFI''', also known as '''Chicken Ovalbumin Upstream Promoter Transcription Factor I''', is a member of the [[steroid receptor superfamily]] of [[nuclear receptor]]s. It is encoded by the '''NR2F1''' gene in humans. COUP-TFI plays a crucial role in the development and differentiation of various tissues and organs in the body.
+'''COUP-TFI''' (Chicken Ovalbumin Upstream Promoter-Transcription Factor I), also known as '''NR2F1''', is a [[nuclear receptor]] that plays a crucial role in the regulation of [[gene expression]] during [[development]] and [[cell differentiation]].
 == Function ==
+COUP-TFI is a member of the [[nuclear receptor family]] of intracellular [[transcription factors]]. It is involved in the regulation of several [[biological processes]], including [[neurogenesis]], [[organogenesis]], and [[metabolism]]. COUP-TFI functions by binding to specific [[DNA sequences]] known as [[response elements]], thereby modulating the transcription of target genes.
-COUP-TFI is a transcription factor that binds to direct repeats of the sequence 5'-AGGTCA-3'. It is involved in the regulation of several genes, including those involved in the development of the [[central nervous system]], [[retina]], [[inner ear]], and [[adrenal gland]]. It also plays a role in the regulation of [[metabolism]] and [[circadian rhythm]].
+== Role in Development ==
+During [[embryonic development]], COUP-TFI is essential for the proper formation of the [[central nervous system]] and the [[peripheral nervous system]]. It regulates the expression of genes involved in [[neuronal differentiation]] and [[axon guidance]]. COUP-TFI is also implicated in the development of the [[cardiovascular system]] and the [[limbs]].
 == Clinical Significance ==
+Mutations or dysregulation of COUP-TFI have been associated with various [[developmental disorders]] and [[diseases]]. For instance, alterations in COUP-TFI expression have been linked to [[congenital heart defects]], [[intellectual disability]], and [[autism spectrum disorders]].
-Mutations in the NR2F1 gene can lead to [[Bosch-Boonstra-Schaaf optic atrophy syndrome]], a rare neurological disorder characterized by [[optic atrophy]], [[intellectual disability]], [[hypotonia]], and [[seizures]].
+== Interactions ==
+COUP-TFI interacts with other [[transcription factors]] and [[co-regulators]] to exert its effects on gene expression. It can form [[heterodimers]] with other nuclear receptors, such as [[RXR]] (Retinoid X Receptor), to enhance or repress the transcription of target genes.
 == Research ==
+Ongoing research is focused on understanding the precise mechanisms by which COUP-TFI regulates gene expression and its role in [[disease pathogenesis]]. Studies are also exploring the potential of targeting COUP-TFI for therapeutic interventions in diseases where its function is disrupted.
-Research on COUP-TFI has been focused on its role in the development of various tissues and organs, as well as its potential involvement in various diseases, including [[cancer]], [[neurological disorders]], and [[metabolic disorders]].
 == See Also ==
 * [[Nuclear receptor]]
 * [[Transcription factor]]
-* [[Bosch-Boonstra-Schaaf optic atrophy syndrome]]
+* [[Gene expression]]
+* [[Developmental biology]]
 == References ==
+<references/>
-<references />
+== External Links ==
+* [COUP-TFI at the US National Library of Medicine Medical Subject Headings (MeSH)]
+* [NR2F1 gene information at NCBI]
 [[Category:Transcription factors]]
 [[Category:Nuclear receptors]]
+[[Category:Developmental biology]]
 [[Category:Human proteins]]
-[[Category:Genes]]
-[[Category:Medicine]]
-{{medicine-stub}}