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Runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
Protein RUNX1T1 PDB 1wq6.png
PDB rendering based on 1wq6.
Available structures
PDB Ortholog search: PDBe, RCSB
External IDs OMIM133435 MGI104793 HomoloGene3801 GeneCards: RUNX1T1 Gene
RNA expression pattern
PBB GE RUNX1T1 205529 s at tn.png
PBB GE RUNX1T1 205528 s at tn.png
PBB GE RUNX1T1 216831 s at tn.png
More reference expression data
Species Human Mouse
Entrez 862 12395
Ensembl ENSG00000079102 ENSMUSG00000006586
UniProt Q06455 Q61909
RefSeq (mRNA) NM_001198625 NM_001111026
RefSeq (protein) NP_001185554 NP_001104496
Location (UCSC) Chr 8:
92.97 – 93.12 Mb
Chr 4:
13.74 – 13.89 Mb
PubMed search [1] [2]

Protein CBFA2T1 is a protein that in humans is encoded by the RUNX1T1 gene.[1][2][3]


The protein encoded by this gene is a putative zinc finger transcription factor and oncoprotein. In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Several transcript variants encoding multiple isoforms have been found for this gene.[3]


RUNX1T1 has been shown to interact with:


  1. ^ Erickson P, Gao J, Chang K, Look T, Whisenant E, Raimondi S et al. (October 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): 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): 332–341. 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 J, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 
  5. ^ a b Lindberg S, Olsson A, Persson A, Olsson I (Dec 2003). "Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins". Eur. J. Haematol. 71 (6): 439–47. PMID 14703694. 
  6. ^ a b Hoogeveen A, Rossetti S, Stoyanova V, Schonkeren J, Fenaroli A, Schiaffonati L et al. (September 2002). "The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies". Oncogene 21 (43): 6703–12. doi:10.1038/sj.onc.1205882. PMID 12242670. 
  7. ^ Puccetti E, Obradovic D, Beissert T, Bianchini A, Washburn B, Chiaradonna F et al. (Dec 2002). "AML-associated translocation products block vitamin D(3)-induced differentiation by sequestering the vitamin D(3) receptor". Cancer Res. 62 (23): 7050–8. PMID 12460926. 
  8. ^ McGhee L, Bryan J, Elliott L, Grimes H, Kazanjian A, Davis J et al. (August 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. 89 (5): 1005–18. doi:10.1002/jcb.10548. PMID 12874834. 
  9. ^ Amann J, Nip J, Strom D, Lutterbach B, Harada H, Lenny N et al. (October 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. 21 (19): 6470–83. PMC 99794. PMID 11533236. 
  10. ^ a b Zhang J, Hug B, Huang E, Chen C, Gelmetti V, Maccarana M et al. (January 2001). "Oligomerization of ETO is obligatory for corepressor interaction". Mol. Cell. Biol. 21 (1): 156–63. doi:10.1128/MCB.21.1.156-163.2001. PMC 88789. PMID 11113190. 
  11. ^ Takahashi S, McConnell M, Harigae H, Kaku M, Sasaki T, Melnick A et al. (June 2004). "The Flt3 internal tandem duplication mutant inhibits the function of transcriptional repressors by blocking interactions with SMRT". Blood 103 (12): 4650–8. doi:10.1182/blood-2003-08-2759. PMID 14982881. 
  12. ^ Fukuyama T, Sueoka E, Sugio Y, Otsuka T, Niho Y, Akagi K et al. (September 2001). "MTG8 proto-oncoprotein interacts with the regulatory subunit of type II cyclic AMP-dependent protein kinase in lymphocytes". Oncogene 20 (43): 6225–32. doi:10.1038/sj.onc.1204794. PMID 11593431. 
  13. ^ Melnick A, Westendorf J, Polinger A, Carlile G, Arai S, Ball H et al. (March 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. 20 (6): 2075–86. PMC 110824. PMID 10688654. 
  14. ^ Melnick A, Carlile G, McConnell M, Polinger A, Hiebert S, Licht J (Dec 2000). "AML-1/ETO fusion protein is a dominant negative inhibitor of transcriptional repression by the promyelocytic leukemia zinc finger protein". Blood 96 (12): 3939–47. PMID 11090081. 

Further reading[edit]