Protein found in humans

COUP-TFI

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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; GeneCards: NR2F1
PDB: Ortholog search: PDBe RCSB
Chr.: Chromosome 5 (human)
Band: 5q15
End: 93,594,611 bp
Chr.: Chromosome 13 (mouse)
Band: 13 C1|13 41.38 cM
End: 78,347,876 bp
BioGPS: More reference expression data
Databases: NCBI: entry; OMA: entry
Species: Human
Entrez: 7025
Ensembl: ENSG00000175745
UniProt: P10589
RefSeq (mRNA): NM_005654
RefSeq (protein): NP_005645
Location (UCSC): Chr 5: 93.58 – 93.59 Mb

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.

In 5 languages

English bosanski فارسی татарча / tatarça українська

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