MED12

MED12
Proteína mediadora de la transcripción de la subunidad 12 de la ARN polimerasa II
HUGO 11957
Símbolo MED12
Símbolos alt. OPA1, CAGH45, HOPA, KIAA0192, TNRC11, TRAP230
Datos genéticos
Locus Cr. X q13.1
Bases de datos
Entrez 9968
OMIM 300188
RefSeq NP_005111
UniProt Q93074

La proteína mediadora de la transcripción de la subunidad 12 de la ARN polimerasa II (MED12) es una enzima que, en humanos, es codificada por el gen med12, situado en el cromosoma X.[1] Se ha observado que ciertas mutaciones en el gen med12 son las responsables de al menos dos formas diferentes de retardo mental asociado al X, el síndrome de Lujan-Fryns y el síndrome de FG.

Interacciones

La proteína MED12 ha demostrado ser capaz de interaccionar con:

  • SOX9[2]
  • PPARGC1A[3]
  • Receptor de hormona tiroidea alfa[4]
  • Receptor de estrógeno alfa[5]
  • MED26[6]
  • Cdk8[4] [5]
  • Receptor de calcitriol[7] [4]

Referencias

  1. «Entrez Gene: MED12 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)».
  2. Zhou, Rongjia; Bonneaud Nathalie, Yuan Chao-Xing, de Santa Barbara Pascal, Boizet Brigitte, Schomber Tibor, Scherer Gerd, Roeder Robert G, Poulat Francis, Berta Philippe, Tibor Schomber (Jul. 2002). «SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex». Nucleic Acids Res. (England) 30 (14):  pp. 3245–52. PMID 12136106. 
  3. Wallberg, Annika E; Yamamura Soichiro, Malik Sohail, Spiegelman Bruce M, Roeder Robert G (Nov. 2003). «Coordination of p300-mediated chromatin remodeling and TRAP/mediator function through coactivator PGC-1alpha». Mol. Cell (United States) 12 (5):  pp. 1137–49. ISSN 1097-2765. PMID 14636573. 
  4. a b c Ito, M; Yuan C X, Malik S, Gu W, Fondell J D, Yamamura S, Fu Z Y, Zhang X, Qin J, Roeder R G (Mar. 1999). «Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators». Mol. Cell (UNITED STATES) 3 (3):  pp. 361–70. ISSN 1097-2765. PMID 10198638. 
  5. a b Kang, Yun Kyoung; Guermah Mohamed, Yuan Chao-Xing, Roeder Robert G (Mar. 2002). «The TRAP/Mediator coactivator complex interacts directly with estrogen receptors alpha and beta through the TRAP220 subunit and directly enhances estrogen receptor function in vitro». Proc. Natl. Acad. Sci. U.S.A. (United States) 99 (5):  pp. 2642–7. doi:10.1073/pnas.261715899. ISSN 0027-8424. PMID 11867769. 
  6. Sato, Shigeo; Tomomori-Sato Chieri, Parmely Tari J, Florens Laurence, Zybailov Boris, Swanson Selene K, Banks Charles A S, Jin Jingji, Cai Yong, Washburn Michael P, Conaway Joan Weliky, Conaway Ronald C (Jun. 2004). «A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology». Mol. Cell (United States) 14 (5):  pp. 685–91. doi:10.1016/j.molcel.2004.05.006. ISSN 1097-2765. PMID 15175163. 
  7. Kitagawa, Hirochika; Fujiki Ryoji, Yoshimura Kimihiro, Mezaki Yoshihiro, Uematsu Yoshikatsu, Matsui Daisuke, Ogawa Satoko, Unno Kiyoe, Okubo Mataichi, Tokita Akifumi, Nakagawa Takeya, Ito Takashi, Ishimi Yukio, Nagasawa Hiromichi, Matsumoto Toshio, Yanagisawa Junn, Kato Shigeaki (Jun. 2003). «The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome». Cell (United States) 113 (7):  pp. 905–17. ISSN 0092-8674. PMID 12837248. 

Enlaces externos


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