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. 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.
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. COUP-TF1 binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif.
Interactions
COUP-TFI has been shown to interact with: BCL11A, BCL11B, COPS2, and ESR1.
Clinical
Mutations in this gene have been associated with Bosch-Boonstra-Schaaf optic atrophy syndrome.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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