6g0q

Structural highlights

Disease

[BRD4_HUMAN] Note=A chromosomal aberration involving BRD4 is found in a rare, aggressive, and lethal carcinoma arising in midline organs of young people. Translocation t(15;19)(q14;p13) with NUT which produces a BRD4-NUT fusion protein.^{[1] [2]} [GATA1_HUMAN] Beta-thalassemia-X-linked thrombocytopenia syndrome;Congenital erythropoietic porphyria;X-linked dyserythropoetic anemia with abnormal platelets and neutropenia;Thrombocytopenia with congenital dyserythropoietic anemia;Acute megakaryoblastic leukemia in Down syndrome;Transient myeloproliferative syndrome;Blackfan-Diamond anemia;Acute basophilic leukemia. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry.

Function

[BRD4_HUMAN] Plays a role in a process governing chromosomal dynamics during mitosis (By similarity). [GATA1_HUMAN] Transcriptional activator or repressor which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781).^{[3] [4]}

References

1. ↑ French CA, Miyoshi I, Kubonishi I, Grier HE, Perez-Atayde AR, Fletcher JA. BRD4-NUT fusion oncogene: a novel mechanism in aggressive carcinoma. Cancer Res. 2003 Jan 15;63(2):304-7. PMID:12543779
2. ↑ French CA, Miyoshi I, Aster JC, Kubonishi I, Kroll TG, Dal Cin P, Vargas SO, Perez-Atayde AR, Fletcher JA. BRD4 bromodomain gene rearrangement in aggressive carcinoma with translocation t(15;19). Am J Pathol. 2001 Dec;159(6):1987-92. PMID:11733348 doi:10.1016/S0002-9440(10)63049-0
3. ↑ Zeng Y, Wang W, Ma J, Wang X, Guo M, Li W. Knockdown of ZNF268, which is transcriptionally downregulated by GATA-1, promotes proliferation of K562 cells. PLoS One. 2012;7(1):e29518. doi: 10.1371/journal.pone.0029518. Epub 2012 Jan 3. PMID:22235304 doi:http://dx.doi.org/10.1371/journal.pone.0029518
4. ↑ Mizuta S, Minami T, Fujita H, Kaminaga C, Matsui K, Ishino R, Fujita A, Oda K, Kawai A, Hasegawa N, Urahama N, Roeder RG, Ito M. CCAR1/CoCoA pair-mediated recruitment of the Mediator defines a novel pathway for GATA1 function. Genes Cells. 2014 Jan;19(1):28-51. doi: 10.1111/gtc.12104. Epub 2013 Nov 19. PMID:24245781 doi:http://dx.doi.org/10.1111/gtc.12104