8tlo: Difference between revisions

Latest revision as of 08:18, 14 August 2024

Crystal Structure Analysis of BCL11A in complex with DNA

Structural highlights

8tlo is a 3 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:	X-ray diffraction, Resolution 2.76Å
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

BC11A_HUMAN Hereditary persistence of fetal hemoglobin - beta-thalassemia. Chromosomal aberrations involving BCL11A may be a cause of lymphoid malignancies. Translocation t(2;14)(p13;q32.3) causes BCL11A deregulation and amplification.^[1] The disease is caused by mutations affecting the gene represented in this entry.^[2]

Function

BC11A_HUMAN Transcription factor associated with the BAF SWI/SNF chromatin remodeling complex (By similarity). Repressor of fetal hemoglobin (HbF) level (PubMed:26375765). Involved in brain development (PubMed:27453576). Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and hematopoiesis. Essential factor in lymphopoiesis required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity).[UniProtKB:Q9QYE3]^[3] ^[4]

References

↑ Satterwhite E, Sonoki T, Willis TG, Harder L, Nowak R, Arriola EL, Liu H, Price HP, Gesk S, Steinemann D, Schlegelberger B, Oscier DG, Siebert R, Tucker PW, Dyer MJ. The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. Blood. 2001 Dec 1;98(12):3413-20. PMID:11719382
↑ Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sanchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME, Fisher SE, Logan DW. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. Am J Hum Genet. 2016 Aug 4;99(2):253-74. doi: 10.1016/j.ajhg.2016.05.030. Epub, 2016 Jul 21. PMID:27453576 doi:https://dx.doi.org/10.1016/j.ajhg.2016.05.030
↑ Bauer DE, Orkin SH. Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin. Curr Opin Genet Dev. 2015 Aug;33:62-70. doi: 10.1016/j.gde.2015.08.001. Epub 2015, Sep 14. PMID:26375765 doi:https://dx.doi.org/10.1016/j.gde.2015.08.001
↑ Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sanchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME, Fisher SE, Logan DW. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. Am J Hum Genet. 2016 Aug 4;99(2):253-74. doi: 10.1016/j.ajhg.2016.05.030. Epub, 2016 Jul 21. PMID:27453576 doi:https://dx.doi.org/10.1016/j.ajhg.2016.05.030

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OCA

[1] Satterwhite E, Sonoki T, Willis TG, Harder L, Nowak R, Arriola EL, Liu H, Price HP, Gesk S, Steinemann D, Schlegelberger B, Oscier DG, Siebert R, Tucker PW, Dyer MJ. The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. Blood. 2001 Dec 1;98(12):3413-20. PMID:11719382

[2] Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sanchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME, Fisher SE, Logan DW. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. Am J Hum Genet. 2016 Aug 4;99(2):253-74. doi: 10.1016/j.ajhg.2016.05.030. Epub, 2016 Jul 21. PMID:27453576 doi:https://dx.doi.org/10.1016/j.ajhg.2016.05.030

[3] Bauer DE, Orkin SH. Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin. Curr Opin Genet Dev. 2015 Aug;33:62-70. doi: 10.1016/j.gde.2015.08.001. Epub 2015, Sep 14. PMID:26375765 doi:https://dx.doi.org/10.1016/j.gde.2015.08.001

[4] Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sanchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME, Fisher SE, Logan DW. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. Am J Hum Genet. 2016 Aug 4;99(2):253-74. doi: 10.1016/j.ajhg.2016.05.030. Epub, 2016 Jul 21. PMID:27453576 doi:https://dx.doi.org/10.1016/j.ajhg.2016.05.030

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[2]

[3]

[4]

@@ Line 1: / Line 1: @@
-'''Unreleased structure'''
-The entry 8tlo is ON HOLD  until Paper Publication
+==Crystal Structure Analysis of BCL11A in complex with DNA==
+<StructureSection load='8tlo' size='340' side='right'caption='[[8tlo]], [[Resolution|resolution]] 2.76&Aring;' scene=''>
-Authors: Seo, H.-S., Dhe-Paganon, S.
+== Structural highlights ==
+<table><tr><td colspan='2'>[[8tlo]] is a 3 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=8TLO OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8TLO FirstGlance]. <br>
-Description: Crystal Structure Analysis of BCL11A in complex with DNA
+</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.76&#8491;</td></tr>
-[[Category: Unreleased Structures]]
+<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8tlo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8tlo OCA], [https://pdbe.org/8tlo PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8tlo RCSB], [https://www.ebi.ac.uk/pdbsum/8tlo PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8tlo ProSAT]</span></td></tr>
-[[Category: Dhe-Paganon, S]]
+</table>
-[[Category: Seo, H.-S]]
+== Disease ==
+[https://www.uniprot.org/uniprot/BC11A_HUMAN BC11A_HUMAN] Hereditary persistence of fetal hemoglobin - beta-thalassemia. Chromosomal aberrations involving BCL11A may be a cause of lymphoid malignancies. Translocation t(2;14)(p13;q32.3) causes BCL11A deregulation and amplification.<ref>PMID:11719382</ref>   The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:27453576</ref>
+== Function ==
+[https://www.uniprot.org/uniprot/BC11A_HUMAN BC11A_HUMAN] Transcription factor associated with the BAF SWI/SNF chromatin remodeling complex (By similarity). Repressor of fetal hemoglobin (HbF) level (PubMed:26375765). Involved in brain development (PubMed:27453576). Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and hematopoiesis. Essential factor in lymphopoiesis required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity).[UniProtKB:Q9QYE3]<ref>PMID:26375765</ref> <ref>PMID:27453576</ref>
+== References ==
+<references/>
+__TOC__
+</StructureSection>
+[[Category: Homo sapiens]]
+[[Category: Large Structures]]
+[[Category: Dhe-Paganon S]]
+[[Category: Seo H-S]]

8tlo: Difference between revisions

Latest revision as of 08:18, 14 August 2024

Crystal Structure Analysis of BCL11A in complex with DNA

Structural highlights

Disease

Function

References

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