|
|
| (One intermediate revision not shown.) |
| Line 1: |
Line 1: |
| | | | |
| | ==Solution structure of the Chromo domain of chromobox homolog 2 from human== | | ==Solution structure of the Chromo domain of chromobox homolog 2 from human== |
| - | <StructureSection load='2d9u' size='340' side='right' caption='[[2d9u]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | + | <StructureSection load='2d9u' size='340' side='right'caption='[[2d9u]]' scene=''> |
| | == Structural highlights == | | == Structural highlights == |
| - | <table><tr><td colspan='2'>[[2d9u]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2D9U OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2D9U FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[2d9u]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2D9U OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2D9U FirstGlance]. <br> |
| - | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CBX2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</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=2d9u FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2d9u OCA], [http://pdbe.org/2d9u PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2d9u RCSB], [http://www.ebi.ac.uk/pdbsum/2d9u PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2d9u ProSAT], [http://www.topsan.org/Proteins/RSGI/2d9u TOPSAN]</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=2d9u FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2d9u OCA], [https://pdbe.org/2d9u PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2d9u RCSB], [https://www.ebi.ac.uk/pdbsum/2d9u PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2d9u ProSAT], [https://www.topsan.org/Proteins/RSGI/2d9u TOPSAN]</span></td></tr> |
| | </table> | | </table> |
| | == Disease == | | == Disease == |
| - | [[http://www.uniprot.org/uniprot/CBX2_HUMAN CBX2_HUMAN]] Defects in CBX2 are the cause of 46,XY sex reversal type 5 (SRXY5) [MIM:[http://omim.org/entry/613080 613080]]. It is a disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.<ref>PMID:19361780</ref> | + | [https://www.uniprot.org/uniprot/CBX2_HUMAN CBX2_HUMAN] Defects in CBX2 are the cause of 46,XY sex reversal type 5 (SRXY5) [MIM:[https://omim.org/entry/613080 613080]. It is a disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.<ref>PMID:19361780</ref> |
| | == Function == | | == Function == |
| - | [[http://www.uniprot.org/uniprot/CBX2_HUMAN CBX2_HUMAN]] Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Involved in sexual development, acting as activator of NR5A1 expression.<ref>PMID:19361780</ref> <ref>PMID:21282530</ref> | + | [https://www.uniprot.org/uniprot/CBX2_HUMAN CBX2_HUMAN] Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Involved in sexual development, acting as activator of NR5A1 expression.<ref>PMID:19361780</ref> <ref>PMID:21282530</ref> |
| | == Evolutionary Conservation == | | == Evolutionary Conservation == |
| | [[Image:Consurf_key_small.gif|200px|right]] | | [[Image:Consurf_key_small.gif|200px|right]] |
| Line 25: |
Line 25: |
| | __TOC__ | | __TOC__ |
| | </StructureSection> | | </StructureSection> |
| - | [[Category: Human]] | + | [[Category: Homo sapiens]] |
| - | [[Category: Inoue, M]] | + | [[Category: Large Structures]] |
| - | [[Category: Kigawa, T]] | + | [[Category: Inoue M]] |
| - | [[Category: Koshiba, S]] | + | [[Category: Kigawa T]] |
| - | [[Category: Li, H]] | + | [[Category: Koshiba S]] |
| - | [[Category: Structural genomic]]
| + | [[Category: Li H]] |
| - | [[Category: Saito, K]] | + | [[Category: Saito K]] |
| - | [[Category: Yokoyama, S]] | + | [[Category: Yokoyama S]] |
| - | [[Category: Chromo domain]]
| + | |
| - | [[Category: Chromobox homolog 2]]
| + | |
| - | [[Category: National project on protein structural and functional analyse]]
| + | |
| - | [[Category: Nppsfa]]
| + | |
| - | [[Category: Rsgi]]
| + | |
| - | [[Category: Unknown function]]
| + | |
| Structural highlights
Disease
CBX2_HUMAN Defects in CBX2 are the cause of 46,XY sex reversal type 5 (SRXY5) [MIM:613080. It is a disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.[1]
Function
CBX2_HUMAN Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Involved in sexual development, acting as activator of NR5A1 expression.[2] [3]
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
- ↑ Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ. Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet. 2009 May;84(5):658-63. doi: 10.1016/j.ajhg.2009.03.016. Epub 2009, Apr 9. PMID:19361780 doi:10.1016/j.ajhg.2009.03.016
- ↑ Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ. Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet. 2009 May;84(5):658-63. doi: 10.1016/j.ajhg.2009.03.016. Epub 2009, Apr 9. PMID:19361780 doi:10.1016/j.ajhg.2009.03.016
- ↑ Vandamme J, Volkel P, Rosnoblet C, Le Faou P, Angrand PO. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 complexes in mammalian cells. Mol Cell Proteomics. 2011 Apr;10(4):M110.002642. doi: 10.1074/mcp.M110.002642., Epub 2011 Jan 31. PMID:21282530 doi:10.1074/mcp.M110.002642
|
