YY1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1UBD, 1ZNM, 4C5I
Identifiers
Aliases	YY1, DELTA, INO80S, NF-E1, UCRBP, YIN-YANG-1, YY1 transcription factor, GADEVS
External IDs	OMIM: 600013 MGI: 99150 HomoloGene: 2556 GeneCards: YY1
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q32.2 Start 100,238,298 bp[1] End 100,282,788 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 F1|12 59.58 cM Start 108,758,899 bp[2] End 108,786,074 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence endothelial cell middle temporal gyrus Brodmann area 23 rectum monocyte thymus sural nerve islet of Langerhans stromal cell of endometrium Top expressed in medullary collecting duct primitive streak ureter renal corpuscle abdominal wall left lung lobe cumulus cell endocardial cushion atrioventricular valve urothelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding transcription corepressor activity transcription coactivator activity zinc ion binding metal ion binding protein binding four-way junction DNA binding cis-regulatory region sequence-specific DNA binding RNA binding nucleic acid binding SMAD binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription factor activity sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific histone deacetylase binding Cellular component Ino80 complex nuclear matrix nucleus nucleoplasm transcription regulator complex cytoplasm PcG protein complex Biological process cell differentiation DNA recombination regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II cellular response to UV negative regulation of gene expression transcription, DNA-templated cellular response to DNA damage stimulus double-strand break repair via homologous recombination spermatogenesis DNA repair protein deubiquitination negative regulation of interferon-beta production negative regulation of transcription by RNA polymerase II RNA localization anterior/posterior pattern specification response to UV-C positive regulation of gene expression response to prostaglandin F positive regulation of transcription by RNA polymerase II camera-type eye morphogenesis chromosome organization cellular response to interleukin-1 negative regulation of pri-miRNA transcription by RNA polymerase II negative regulation of cell growth involved in cardiac muscle cell development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7528 22632 Ensembl ENSG00000100811 ENSMUSG00000021264 UniProt P25490 Q00899 RefSeq (mRNA) NM_003403 NM_009537 RefSeq (protein) NP_003394 NP_033563 Location (UCSC) Chr 14: 100.24 – 100.28 Mb Chr 12: 108.76 – 108.79 Mb PubMed search [3] [4]
Wikidata
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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

Further reading

External links

• FactorBook YY1
• Overview of all the structural information available in the PDB for UniProt: P25490 (Transcriptional repressor protein YY1) at the PDBe-KB.