COUP-TF1 (COUP Transcription Factor 1) also known as NR2F1 (Nuclear Receptor subfamily 2, group F, member 1) is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...

that in humans is encoded by the ''NR2F1''

gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...

. This protein is a member of

nuclear hormone receptor In the field of molecular biology, nuclear receptors are a class of proteins responsible for sensing steroids, thyroid hormones, vitamins, and certain other molecules. These receptors work with other proteins to regulate the expression of speci ...

family of

steroid hormone receptor Steroid hormone receptors are found in the nucleus, cytosol, and also on the plasma membrane of target cells. They are generally intracellular receptors (typically cytoplasmic or nuclear) and initiate signal transduction for steroid hormones which ...

Function

Coup (chicken

ovalbumin Ovalbumin (abbreviated OVA) is the main protein found in egg white, making up approximately 55% of the total protein. Ovalbumin displays sequence and three-dimensional homology to the serpin superfamily, but unlike most serpins it is not a serin ...

upstream promoter)

transcription factor In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The f ...

binds to the ovalbumin promoter and, in conjunction with another protein ( S300-II) stimulates

initiation of transcription Transcription is the process of copying a segment of DNA into RNA. The segments of DNA transcribed into RNA molecules that can encode proteins are said to produce messenger RNA (mRNA). Other segments of DNA are copied into RNA molecules called ...

. COUP-TF1 binds to both direct repeats and

palindromes A palindrome is a word, number, phrase, or other sequence of symbols that reads the same backwards as forwards, such as the words ''madam'' or ''racecar'', the date and time ''11/11/11 11:11,'' and the sentence: "A man, a plan, a canal – Panam ...

of the 5'-AGGTCA-3' motif.

Interactions

COUP-TFI has been shown to

interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...

with: *

BCL11A B-cell lymphoma/leukemia 11A is a protein that in humans is encoded by the ''BCL11A'' gene. Function The ''BCL11A'' gene encodes for a regulatory C2H2 type zinc-finger protein, that can bind to the DNA. Five alternatively spliced transcript va ...

, *

BCL11B B-cell lymphoma/leukemia 11B is a protein that in humans is encoded by the ''BCL11B'' gene. Gene location BCL11B is located on human chromosome 14p32.2. The mouse analogue is called Rit1 or Bcl11b and is located on mouse chromosome 12. Funct ...

, *

COPS2 COP9 signalosome complex subunit 2 is a protein that in humans is encoded by the ''COPS2'' gene. It encodes a subunit of the COP9 signalosome. Interactions COPS2 has been shown to interact with: * DAX1, * IRF8 Interferon regulatory factor 8 ...

, and *

ESR1 Estrogen receptor alpha (ERα), also known as NR3A1 (nuclear receptor subfamily 3, group A, member 1), is one of two main types of estrogen receptor, a nuclear receptor (mainly found as a chromatin-binding protein) that is activated by the sex ...

Clinical

Mutations in this gene have been associated with

Bosch-Boonstra-Schaaf optic atrophy syndrome Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by developmental delay, intellectual disability and decreased visual acuity.Bosch DGM, Boonstra FN, Gonzaga-Jauregui C, Xu, M, de Ligt J, Jhangia ...

.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

References

External links

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Function

Interactions

Clinical

References

External links

Further reading