YY1

Source: Wikipedia, the free encyclopedia.

YY1
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_003403

NM_009537

RefSeq (protein)

NP_003394

NP_033563

Location (UCSC)Chr 14: 100.24 – 100.28 MbChr 12: 108.76 – 108.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

YY1 (Yin Yang 1)[5] is a transcriptional repressor protein in humans that is encoded by the YY1 gene.[6][7]

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." YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1.[8] YY1 promotes enhancer-promoter chromatin loops by forming dimers and promoting DNA interactions. Its dysregulation disrupts enhancer-promoter loops and gene expression.[9][10]

Clinical significance

YY1 heterozygous deletions, missense, and nonsense mutations cause Gabriele-DeVries syndrome (GADEVS),[11][12] 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.[10] A website is available in order to collect and share clinical information between clinicians and the families of affected individuals.[13]

Interactions

YY1 has been shown to

interact
with:

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100811Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021264Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. PMID 22248054
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  8. ^ "Entrez Gene: YY1 YY1 transcription factor".
  9. PMID 29224777
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  10. ^ .
  11. ^ "OMIM:GABRIELE-DE VRIES SYNDROME".
  12. PMID 31145572. {{cite journal}}: Cite journal requires |journal= (help
    )
  13. ^ "YY1 – Collect information about clinic management and research projects". YY1.
  14. PMID 10866666
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Further reading

U== External links ==

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