View source for 4hpl


==PCGF1 Ub fold (RAWUL)/BCOR PUFD Complex==
<StructureSection load='4hpl' size='340' side='right'caption='[[4hpl]], [[Resolution|resolution]] 2.00&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[4hpl]] is a 2 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=4HPL OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4HPL FirstGlance]. <br>
</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&#8491;</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=4hpl FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4hpl OCA], [https://pdbe.org/4hpl PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4hpl RCSB], [https://www.ebi.ac.uk/pdbsum/4hpl PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4hpl ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/BCOR_HUMAN BCOR_HUMAN] Defects in BCOR are the cause of microphthalmia syndromic type 2 (MCOPS2) [MIM:[https://omim.org/entry/300166 300166]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS2 is a very rare multiple congenital anomaly syndrome characterized by eye anomalies (congenital cataract, microphthalmia, or secondary glaucoma), facial abnormalities (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate), cardiac anomalies (atrial septal defect, ventricular septal defect, or floppy mitral valve) and dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length).<ref>PMID:15004558</ref> 
== Function ==
[https://www.uniprot.org/uniprot/BCOR_HUMAN BCOR_HUMAN] Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on histone H3 'Lys-4' (H3K4me3) and 'Lys-36' (H3K36me2).<ref>PMID:10898795</ref> <ref>PMID:15004558</ref> <ref>PMID:19578371</ref> <ref>PMID:18280243</ref> 

==See Also==
*[[Polycomb complex proteins 3D structures|Polycomb complex proteins 3D structures]]
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Bardwell VJ]]
[[Category: Gaipa J]]
[[Category: Gearhart MD]]
[[Category: Hart PJ]]
[[Category: Junco SE]]
[[Category: Kim CA]]
[[Category: Taylor AB]]
[[Category: Wang R]]