6ki6: Difference between revisions

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<StructureSection load='6ki6' size='340' side='right'caption='[[6ki6]], [[Resolution|resolution]] 2.50&Aring;' scene=''>
<StructureSection load='6ki6' size='340' side='right'caption='[[6ki6]], [[Resolution|resolution]] 2.50&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[6ki6]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6KI6 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6KI6 FirstGlance]. <br>
<table><tr><td colspan='2'>[[6ki6]] is a 6 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=6KI6 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6KI6 FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.5&#8491;</td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">BCL11A, CTIP1, EVI9, KIAA1809, ZNF856 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6ki6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6ki6 OCA], [http://pdbe.org/6ki6 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6ki6 RCSB], [http://www.ebi.ac.uk/pdbsum/6ki6 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6ki6 ProSAT]</span></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6ki6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6ki6 OCA], [https://pdbe.org/6ki6 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6ki6 RCSB], [https://www.ebi.ac.uk/pdbsum/6ki6 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6ki6 ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://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>
[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 ==
== Function ==
[[http://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>
[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>  
 
==See Also==
*[[B-cell lymphoma proteins 3D structures|B-cell lymphoma proteins 3D structures]]
== References ==
== References ==
<references/>
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Li, F D]]
[[Category: Li FD]]
[[Category: Shi, Y Y]]
[[Category: Shi YY]]
[[Category: Yang, Y]]
[[Category: Yang Y]]
[[Category: Dna binding]]
[[Category: Transcription]]
[[Category: Transcription factor]]
[[Category: Transcription-dna complex]]

Latest revision as of 13:42, 27 March 2024

Crystal structure of BCL11A in complex with gamma-globin -115 HPFH regionCrystal structure of BCL11A in complex with gamma-globin -115 HPFH region

Structural highlights

6ki6 is a 6 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 2.5Å
Ligands:
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]

See Also

References

  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:http://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:http://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:http://dx.doi.org/10.1016/j.ajhg.2016.05.030

6ki6, resolution 2.50Å

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