RUNX1T1

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Runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
Protein RUNX1T1 PDB 1wq6.png
Estructura tridimensional de la proteína RUNX1T1.
HUGO 1535
Símbolo RUNX1T1
Símbolos alt. AML1T1, CBFA2T1, CDR, ETO, MGC2796, MTG8, MTG8b, ZMYND2
Datos genéticos
Locus Cr. 8 q21.3
Bases de datos
Entrez 862
OMIM 133435
RefSeq NP_004340
UniProt Q06455

RUNX1T1 es un gen que codifica en humanos la proteína CBFA2T1.[1] [2] [3]

Esta proteína es un posible factor de transcripción con dedos de zinc y una oncoproteína. En la leucemia mieloide aguda, especialmente en el subtipo M2, la translocación t(8;21)(q22;q22) es una de las anormalidades cariotípicas más frecuentes. Esta translocación produce un gen quimérico con el extremo 5' del gen RUNX1 fusionado al extremo 3' del gen RUNX1T1. La proteína quimérica resultante parece estar asociada con el complejo correpresor nuclear/histona deacetilasa con lo que bloquea la diferenciación hematopoyética. Se han descrito diversos transcritos de este gen que codifican diferentes isoformas de la proteína.[3]


Interacciones[editar]

La proteína CBFA2T1 ha demostrado ser capaz de interaccionar con:

Referencias[editar]

  1. Erickson P, Gao J, Chang KS, Look T, Whisenant E, Raimondi S, Lasher R, Trujillo J, Rowley J, Drabkin H (Oct 1992). «Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila segmentation gene, runt». Blood 80 (7):  pp. 1825–31. PMID 1391946. 
  2. Calabi F, Cilli V (Dec 1998). «CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family». Genomics 52 (3):  pp. 332–41. doi:10.1006/geno.1998.5429. PMID 9790752. 
  3. a b «Entrez Gene: RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)».
  4. Rual, Jean-François; Venkatesan Kavitha, Hao Tong, Hirozane-Kishikawa Tomoko, Dricot Amélie, Li Ning, Berriz Gabriel F, Gibbons Francis D, Dreze Matija, Ayivi-Guedehoussou Nono, Klitgord Niels, Simon Christophe, Boxem Mike, Milstein Stuart, Rosenberg Jennifer, Goldberg Debra S, Zhang Lan V, Wong Sharyl L, Franklin Giovanni, Li Siming, Albala Joanna S, Lim Janghoo, Fraughton Carlene, Llamosas Estelle, Cevik Sebiha, Bex Camille, Lamesch Philippe, Sikorski Robert S, Vandenhaute Jean, Zoghbi Huda Y, Smolyar Alex, Bosak Stephanie, Sequerra Reynaldo, Doucette-Stamm Lynn, Cusick Michael E, Hill David E, Roth Frederick P, Vidal Marc (Oct. 2005). «Towards a proteome-scale map of the human protein-protein interaction network». Nature (England) 437 (7062):  pp. 1173–8. doi:10.1038/nature04209. PMID 16189514. 
  5. a b Lindberg, Sofia Rondin; Olsson André, Persson Ann-Maj, Olsson Inge (Dec. 2003). «Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins». Eur. J. Haematol. (Denmark) 71 (6):  pp. 439–47. ISSN 0902-4441. PMID 14703694. 
  6. a b Hoogeveen, André T; Rossetti Stefano, Stoyanova Violeta, Schonkeren Joris, Fenaroli Angelia, Schiaffonati Luisa, van Unen Leontine, Sacchi Nicoletta (Sep. 2002). «The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies». Oncogene (England) 21 (43):  pp. 6703–12. doi:10.1038/sj.onc.1205882. ISSN 0950-9232. PMID 12242670. 
  7. Melnick, A M; Westendorf J J, Polinger A, Carlile G W, Arai S, Ball H J, Lutterbach B, Hiebert S W, Licht J D (Mar. 2000). «The ETO protein disrupted in t(8;21)-associated acute myeloid leukemia is a corepressor for the promyelocytic leukemia zinc finger protein». Mol. Cell. Biol. (UNITED STATES) 20 (6):  pp. 2075–86. ISSN 0270-7306. PMID 10688654. 
  8. Melnick, A; Carlile G W, McConnell M J, Polinger A, Hiebert S W, Licht J D (Dec. 2000). «AML-1/ETO fusion protein is a dominant negative inhibitor of transcriptional repression by the promyelocytic leukemia zinc finger protein». Blood (UNITED STATES) 96 (12):  pp. 3939–47. ISSN 0006-4971. PMID 11090081. 
  9. Amann, J M; Nip J, Strom D K, Lutterbach B, Harada H, Lenny N, Downing J R, Meyers S, Hiebert S W (Oct. 2001). «ETO, a target of t(8;21) in acute leukemia, makes distinct contacts with multiple histone deacetylases and binds mSin3A through its oligomerization domain». Mol. Cell. Biol. (United States) 21 (19):  pp. 6470–83. ISSN 0270-7306. PMID 11533236. 
  10. a b Zhang, J; Hug B A, Huang E Y, Chen C W, Gelmetti V, Maccarana M, Minucci S, Pelicci P G, Lazar M A (Jan. 2001). «Oligomerization of ETO is obligatory for corepressor interaction». Mol. Cell. Biol. (UNITED STATES) 21 (1):  pp. 156–63. doi:10.1128/MCB.21.1.156-163.2001. ISSN 0270-7306. PMID 11113190. 
  11. Takahashi, Shinichiro; McConnell Melanie J, Harigae Hideo, Kaku Mitsuo, Sasaki Takeshi, Melnick Ari M, Licht Jonathan D (Jun. 2004). «The Flt3 internal tandem duplication mutant inhibits the function of transcriptional repressors by blocking interactions with SMRT». Blood (United States) 103 (12):  pp. 4650–8. doi:10.1182/blood-2003-08-2759. ISSN 0006-4971. PMID 14982881. 
  12. McGhee, Laura; Bryan Josh, Elliott Liza, Grimes H Leighton, Kazanjian Avedis, Davis J Nathan, Meyers Shari (Aug. 2003). «Gfi-1 attaches to the nuclear matrix, associates with ETO (MTG8) and histone deacetylase proteins, and represses transcription using a TSA-sensitive mechanism». J. Cell. Biochem. (United States) 89 (5):  pp. 1005–18. doi:10.1002/jcb.10548. ISSN 0730-2312. PMID 12874834. 
  13. Puccetti, Elena; Obradovic Darja, Beissert Tim, Bianchini Andrea, Washburn Birgit, Chiaradonna Ferdinando, Boehrer Simone, Hoelzer Dieter, Ottmann Oliver Gerhard, Pelicci Pier Giuseppe, Nervi Clara, Ruthardt Martin (Dec. 2002). «AML-associated translocation products block vitamin D(3)-induced differentiation by sequestering the vitamin D(3) receptor». Cancer Res. (United States) 62 (23):  pp. 7050–8. ISSN 0008-5472. PMID 12460926. 
  14. Fukuyama, T; Sueoka E, Sugio Y, Otsuka T, Niho Y, Akagi K, Kozu T (Sep. 2001). «MTG8 proto-oncoprotein interacts with the regulatory subunit of type II cyclic AMP-dependent protein kinase in lymphocytes». Oncogene (England) 20 (43):  pp. 6225–32. doi:10.1038/sj.onc.1204794. ISSN 0950-9232. PMID 11593431.