YY1

YY1
PDBに登録されている構造 PDB オルソログ検索: RCSB PDBe PDBj PDBのIDコード一覧 1UBD, 1ZNM, 4C5I
識別子
記号	YY1, DELTA, INO80S, NF-E1, UCRBP, YIN-YANG-1, YY1 transcription factor, GADEVS
外部ID	OMIM: 600013 MGI: 99150 HomoloGene: 2556 GeneCards: YY1
遺伝子の位置 (ヒト) 染色体 14番染色体 (ヒト)[1] バンド データ無し 開始点 100,238,298 bp[1] 終点 100,282,788 bp[1]
遺伝子の位置 (マウス) 染色体 12番染色体 (マウス)[2] バンド データ無し 開始点 108,758,899 bp[2] 終点 108,786,074 bp[2]
RNA発現パターン さらなる参照発現データ
遺伝子オントロジー 分子機能 • DNA結合 • transcription corepressor activity • transcription coactivator activity • zinc ion binding • 金属イオン結合 • 血漿タンパク結合 • four-way junction DNA binding • cis-regulatory region sequence-specific DNA binding • RNA結合 • 核酸結合 • 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 • ヒストンデアセチラーゼ結合 細胞の構成要素 • INO80サブファミリー • 核マトリックス • 細胞核 • 核質 • transcription regulator complex • 細胞質 • PcG protein complex 生物学的プロセス • 細胞分化 • DNA recombination • regulation of transcription, DNA-templated • regulation of transcription by RNA polymerase II • cellular response to UV • 遺伝子発現の負の調節 • transcription, DNA-templated • cellular response to DNA damage stimulus • double-strand break repair via homologous recombination • 精子形成 • DNA修復 • 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 • 染色体構成 • 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 出典:Amigo / QuickGO
オルソログ
種	ヒト	マウス
Entrez	7528	22632
Ensembl	ENSG00000100811	ENSMUSG00000021264
UniProt	P25490,G3V3M8	Q00899
RefSeq (mRNA)	NM_003403	NM_009537
RefSeq (タンパク質)	NP_003394	NP_033563
場所 (UCSC)	Chr 14: 100.24 – 100.28 Mb	Chr 14: 108.76 – 108.79 Mb
PubMed検索	[3]	[4]
ウィキデータ
閲覧/編集 ヒト 閲覧/編集 マウス

YY1（Yin Yang 1）^[5]は、ヒトではYY1遺伝子にコードされる転写因子である^[6][7]。

機能

YY1は生体内に遍在的に分布している転写因子であり、GLI-Kruppel型のジンクフィンガータンパク質に属する。このタンパク質は多様なプロモーターの抑制と活性化に関与している。YYは「陰陽」を意味している。YY1はプロモーターの活性化または抑制のためにヒストンデアセチラーゼやヒストンアセチルトランスフェラーゼをリクルートしている可能性があり、ヒストン修飾における機能が示唆されている^[8]。YY1は二量体を形成してDNA相互作用を促進し、エンハンサー-プロモーター間のクロマチンループの形成を促進する。YY1の調節異常によってエンハンサー-プロモーター間のループ形成が損なわれ、遺伝子発現が損なわれる^[9][10]。

臨床的意義

YY1遺伝子のヘテロ接合型の欠失、ミスセンス変異、ナンセンス変異は、常染色体優性型の神経発達障害であるGabriele-de Vries症候群（GADEVS）を引き起こす^[11][12]。この疾患は、知的障害、顔面形態異常、摂食障害、子宮内発育遅延、さまざまな認知機能障害、行動障害、その他の先天性奇形を特徴とする。また、臨床医と患者の家族との間で臨床情報を収集・共有するためのウェブサイトが利用可能である^[13]。

相互作用

YY1は次に挙げる因子と相互作用することが示されている。

• ATF6^[14]
• EP300（英語版）^[15][16]
• FKBP3（英語版）^[17]
• HDAC2（英語版）^[15][18][19]
• HDAC3（英語版）^[15][18]
• Myc^[20]
• NOTCH1（英語版）^[21]
• RYBP（英語版）^[22]
• SAP30（英語版）^[23]
• セリンtRNAリガーゼ^[24]

出典

1. ^ GRCh38: Ensembl release 89: ENSG00000100811 - Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000021264 - Ensembl, May 2017
3. Human PubMed Reference:
4. Mouse PubMed Reference:
5. “Oncogenic potential of yin yang 1 mediated through control of imprinted genes”. Critical Reviews in Oncogenesis 16 (3–4): 199–209. (2011). doi:10.1615/critrevoncog.v16.i3-4.40. PMC 3392609. PMID 22248054. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3392609/. 
6. “Transcriptional repression by YY1, a human GLI-Krüppel-related protein, and relief of repression by adenovirus E1A protein”. Cell 67 (2): 377–88. (Oct 1991). doi:10.1016/0092-8674(91)90189-6. PMID 1655281. 
7. “Chromosomal localization of the transcription factor YY1 in the mouse and human”. Mammalian Genome 5 (4): 234–6. (Apr 1994). doi:10.1007/BF00360552. hdl:2027.42/47010. PMID 7912122. 
8. “Entrez Gene: YY1 YY1 transcription factor”. 2021年10月15日閲覧。
9. “YY1 Is a Structural Regulator of Enhancer-Promoter Loops”. Cell 171 (7): 1573–1588.e28. (December 2017). doi:10.1016/j.cell.2017.11.008. PMC 5785279. PMID 29224777. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785279/. 
10. “YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction”. American Journal of Human Genetics 100 (6): 907–925. (June 2017). doi:10.1016/j.ajhg.2017.05.006. PMC 5473733. PMID 28575647. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473733/. 
11. “OMIM:GABRIELE-DE VRIES SYNDROME”. 2021年10月15日閲覧。
12. Nabais Sá, M. J.; Gabriele, M.; Testa, G.; de Vries BBA; Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E. et al. (1993). Gabriele-de Vries Syndrome. PMID 31145572. 
13. “YY1 - Collect information about clinic management and research projects” (英語). YY1. 2021年10月15日閲覧。
14. “ATF6 as a transcription activator of the endoplasmic reticulum stress element: thapsigargin stress-induced changes and synergistic interactions with NF-Y and YY1”. Molecular and Cellular Biology 20 (14): 5096–106. (Jul 2000). doi:10.1128/mcb.20.14.5096-5106.2000. PMC 85959. PMID 10866666. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC85959/. 
15. ^ “Regulation of transcription factor YY1 by acetylation and deacetylation”. Molecular and Cellular Biology 21 (17): 5979–91. (Sep 2001). doi:10.1128/mcb.21.17.5979-5991.2001. PMC 87316. PMID 11486036. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC87316/. 
16. “Relief of YY1 transcriptional repression by adenovirus E1A is mediated by E1A-associated protein p300”. Genes & Development 9 (10): 1188–98. (May 1995). doi:10.1101/gad.9.10.1188. PMID 7758944. 
17. “The FK506-binding protein 25 functionally associates with histone deacetylases and with transcription factor YY1”. The EMBO Journal 20 (17): 4814–25. (Sep 2001). doi:10.1093/emboj/20.17.4814. PMC 125595. PMID 11532945. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC125595/. 
18. ^ “Isolation and characterization of cDNAs corresponding to an additional member of the human histone deacetylase gene family”. The Journal of Biological Chemistry 272 (44): 28001–7. (Oct 1997). doi:10.1074/jbc.272.44.28001. PMID 9346952. 
19. “Yeast two-hybrid cloning of a novel zinc finger protein that interacts with the multifunctional transcription factor YY1”. Nucleic Acids Research 25 (4): 843–9. (Feb 1997). doi:10.1093/nar/25.4.843. PMC 146511. PMID 9016636. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC146511/. 
20. “Inhibition of transcriptional regulator Yin-Yang-1 by association with c-Myc”. Science 262 (5141): 1889–92. (Dec 1993). Bibcode: 1993Sci...262.1889S. doi:10.1126/science.8266081. PMID 8266081. 
21. “Association of transcription factor YY1 with the high molecular weight Notch complex suppresses the transactivation activity of Notch”. The Journal of Biological Chemistry 278 (43): 41963–9. (Oct 2003). doi:10.1074/jbc.M304353200. PMID 12913000. 
22. “RYBP, a new repressor protein that interacts with components of the mammalian Polycomb complex, and with the transcription factor YY1”. The EMBO Journal 18 (12): 3404–18. (Jun 1999). doi:10.1093/emboj/18.12.3404. PMC 1171420. PMID 10369680. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1171420/. 
23. “Modulation of YY1 activity by SAP30”. Biochemical and Biophysical Research Communications 306 (1): 267–75. (Jun 2003). doi:10.1016/s0006-291x(03)00966-5. PMID 12788099. 
24. “Competitive binding between Seryl-tRNA synthetase/YY1 complex and NFKB1 at the distal segment results in differential regulation of human vegfa promoter activity during angiogenesis”. Nucleic Acids Research 45 (5): 2423–2437. (Nov 2017). doi:10.1093/nar/gkw1187. PMC 5389716. PMID 27913726. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389716/. 

関連文献

• “Unlocking the mechanisms of transcription factor YY1: are chromatin modifying enzymes the key?”. Gene 236 (2): 197–208. (Aug 1999). doi:10.1016/S0378-1119(99)00261-9. PMID 10452940. 
• “Isolation of a candidate repressor/activator, NF-E1 (YY-1, delta), that binds to the immunoglobulin kappa 3' enhancer and the immunoglobulin heavy-chain mu E1 site”. Proceedings of the National Academy of Sciences of the United States of America 88 (21): 9804–8. (Nov 1991). Bibcode: 1991PNAS...88.9804P. doi:10.1073/pnas.88.21.9804. PMC 52809. PMID 1946405. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC52809/. 
• “Cyclophilin A and FKBP12 interact with YY1 and alter its transcriptional activity”. The Journal of Biological Chemistry 270 (25): 15187–93. (Jun 1995). doi:10.1074/jbc.270.25.15187. PMID 7541038. 
• “Relief of YY1 transcriptional repression by adenovirus E1A is mediated by E1A-associated protein p300”. Genes & Development 9 (10): 1188–98. (May 1995). doi:10.1101/gad.9.10.1188. PMID 7758944. 
• “Transcriptional repression of the c-fos gene by YY1 is mediated by a direct interaction with ATF/CREB”. Journal of Virology 69 (7): 4323–30. (Jul 1995). doi:10.1128/JVI.69.7.4323-4330.1995. PMC 189172. PMID 7769693. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC189172/. 
• “Inhibition of transcriptional regulator Yin-Yang-1 by association with c-Myc”. Science 262 (5141): 1889–92. (Dec 1993). Bibcode: 1993Sci...262.1889S. doi:10.1126/science.8266081. PMID 8266081. 
• “Binding of the ubiquitous nuclear transcription factor YY1 to a cis regulatory sequence in the human LINE-1 transposable element”. Human Molecular Genetics 2 (10): 1697–702. (Oct 1993). doi:10.1093/hmg/2.10.1697. PMID 8268924. https://zenodo.org/record/1234317. 
• “Human transcription factor YY1 represses human immunodeficiency virus type 1 transcription and virion production”. Journal of Virology 68 (2): 905–10. (Feb 1994). doi:10.1128/JVI.68.2.905-910.1994. PMC 236527. PMID 8289393. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC236527/. 
• “Evidence for physical interaction between the zinc-finger transcription factors YY1 and Sp1”. Proceedings of the National Academy of Sciences of the United States of America 90 (13): 6145–9. (Jul 1993). Bibcode: 1993PNAS...90.6145L. doi:10.1073/pnas.90.13.6145. PMC 46884. PMID 8327494. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC46884/. 
• “Transcriptional repression by YY1 is mediated by interaction with a mammalian homolog of the yeast global regulator RPD3”. Proceedings of the National Academy of Sciences of the United States of America 93 (23): 12845–50. (Nov 1996). Bibcode: 1996PNAS...9312845Y. doi:10.1073/pnas.93.23.12845. PMC 24008. PMID 8917507. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC24008/. 
• “Cocrystal structure of YY1 bound to the adeno-associated virus P5 initiator”. Proceedings of the National Academy of Sciences of the United States of America 93 (24): 13577–82. (Nov 1996). Bibcode: 1996PNAS...9313577H. doi:10.1073/pnas.93.24.13577. PMC 19349. PMID 8942976. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC19349/. 
• “Yeast two-hybrid cloning of a novel zinc finger protein that interacts with the multifunctional transcription factor YY1”. Nucleic Acids Research 25 (4): 843–9. (Feb 1997). doi:10.1093/nar/25.4.843. PMC 146511. PMID 9016636. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC146511/. 
• “A functional YY1 binding site is necessary and sufficient to activate Surf-1 promoter activity in response to serum growth factors”. Nucleic Acids Research 25 (18): 3705–11. (Sep 1997). doi:10.1093/nar/25.18.3705. PMC 146936. PMID 9278494. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC146936/. 
• “Isolation and characterization of cDNAs corresponding to an additional member of the human histone deacetylase gene family”. The Journal of Biological Chemistry 272 (44): 28001–7. (Oct 1997). doi:10.1074/jbc.272.44.28001. PMID 9346952. 
• “Repression of human immunodeficiency virus type 1 through the novel cooperation of human factors YY1 and LSF”. Journal of Virology 71 (12): 9375–82. (Dec 1997). doi:10.1128/JVI.71.12.9375-9382.1997. PMC 230241. PMID 9371597. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC230241/. 
• “Targeting of the YY1 transcription factor to the nucleolus and the nuclear matrix in situ: the C-terminus is a principal determinant for nuclear trafficking”. Journal of Cellular Biochemistry 68 (4): 500–10. (Mar 1998). doi:10.1002/(SICI)1097-4644(19980315)68:4<500::AID-JCB9>3.0.CO;2-U. PMID 9493912. 
• “Design, synthesis and structure of a zinc finger with an artificial beta-turn”. Journal of Molecular Biology 279 (4): 973–86. (Jun 1998). doi:10.1006/jmbi.1998.1764. PMID 9642075. 
• “Cloning, chromosomal localization and promoter analysis of the human transcription factor YY1”. Nucleic Acids Research 26 (16): 3776–83. (Aug 1998). doi:10.1093/nar/26.16.3776. PMC 147783. PMID 9685495. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC147783/. 

外部リンク

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