YY1 (Yin Yang 1) is a transcriptional repressor
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
in humans that is encoded by the YY1
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. Hence, the YY in the name stands for "
yin-yang
Originating in Chinese philosophy, yin and yang (, ), also yinyang or yin-yang, is the concept of opposite cosmic principles or forces that interact, interconnect, and perpetuate each other. Yin and yang can be thought of as complementary an ...
." YY1 may direct
histone deacetylases and
histone acetyltransferase
Histone acetyltransferases (HATs) are enzymes that acetylation, acetylate conserved lysine amino acids on histone proteins by transferring an acetyl group from acetyl-CoA to form ε-N-acetyllysine, ε-''N''-acetyllysine. DNA is wrapped around his ...
s to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. YY1 promotes enhancer-promoter chromatin loops by forming dimers and promoting DNA interactions. Its dysregulation disrupts enhancer-promoter loops and gene expression.
Clinical significance
''YY1'' heterozygous deletions, missense, and nonsense mutations cause Gabriele-DeVries syndrome (GADEVS), an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, dysmorphic facial features, feeding problems, intrauterine growth restriction, variable cognitive impairment, behavioral problems and other congenital malformations.
A website is available in order to collect and share clinical information between clinicians and the families of affected individuals.
Interactions
YY1 has been shown to
interact with:
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ATF6
Activating transcription factor 6, also known as ATF6, is a protein that, in humans, is encoded by the ''ATF6'' gene and is involved in the unfolded protein response.
Function
ATF6 is an endoplasmic reticulum (ER) stress-regulated transmembr ...
,
*
EP300
Histone acetyltransferase p300 also known as p300 HAT or E1A-associated protein p300 (where E1A = adenovirus early region 1A) also known as EP300 or p300 is an enzyme that, in humans, is encoded by the ''EP300'' gene. It functions as histone ace ...
* FKBP3
* HDAC3
Histone deacetylase 3 is an enzyme encoded by the ''HDAC3'' gene in both humans and mice.
Function
Histones are highly alkaline proteins that package and order DNA into structural units called nucleosomes, which comprise the major protein comp ...
[
* Histone deacetylase 2]
* Myc
* NOTCH1
* RYBP and
* SAP30
* Serine—tRNA ligase
References
Further reading
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External links
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{{Transcription factors, g2
Transcription factors