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| | ==Solution structure of the SH2 domain of human SH3BP2 protein== | | ==Solution structure of the SH2 domain of human SH3BP2 protein== |
| - | <StructureSection load='2cr4' size='340' side='right' caption='[[2cr4]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | + | <StructureSection load='2cr4' size='340' side='right'caption='[[2cr4]]' scene=''> |
| | == Structural highlights == | | == Structural highlights == |
| - | <table><tr><td colspan='2'>[[2cr4]] 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=2CR4 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2CR4 FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[2cr4]] 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=2CR4 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2CR4 FirstGlance]. <br> |
| - | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SH3BP2 ([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=2cr4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cr4 OCA], [http://pdbe.org/2cr4 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2cr4 RCSB], [http://www.ebi.ac.uk/pdbsum/2cr4 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2cr4 ProSAT], [http://www.topsan.org/Proteins/RSGI/2cr4 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=2cr4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cr4 OCA], [https://pdbe.org/2cr4 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2cr4 RCSB], [https://www.ebi.ac.uk/pdbsum/2cr4 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2cr4 ProSAT], [https://www.topsan.org/Proteins/RSGI/2cr4 TOPSAN]</span></td></tr> |
| | </table> | | </table> |
| | == Disease == | | == Disease == |
| - | [[http://www.uniprot.org/uniprot/3BP2_HUMAN 3BP2_HUMAN]] Defects in SH3BP2 are the cause of cherubism (CRBM) [MIM:[http://omim.org/entry/118400 118400]]. CRBM is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.<ref>PMID:11381256</ref> <ref>PMID:12900899</ref> <ref>PMID:14577811</ref> | + | [https://www.uniprot.org/uniprot/3BP2_HUMAN 3BP2_HUMAN] Defects in SH3BP2 are the cause of cherubism (CRBM) [MIM:[https://omim.org/entry/118400 118400]. CRBM is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.<ref>PMID:11381256</ref> <ref>PMID:12900899</ref> <ref>PMID:14577811</ref> |
| | == Function == | | == Function == |
| - | [[http://www.uniprot.org/uniprot/3BP2_HUMAN 3BP2_HUMAN]] Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism. | + | [https://www.uniprot.org/uniprot/3BP2_HUMAN 3BP2_HUMAN] Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism. |
| | == References == | | == References == |
| | <references/> | | <references/> |
| | __TOC__ | | __TOC__ |
| | </StructureSection> | | </StructureSection> |
| - | [[Category: Human]] | + | [[Category: Homo sapiens]] |
| - | [[Category: Hatta, R]] | + | [[Category: Large Structures]] |
| - | [[Category: Hayashi, F]] | + | [[Category: Hatta R]] |
| - | [[Category: Structural genomic]] | + | [[Category: Hayashi F]] |
| - | [[Category: Tomizawa, T]] | + | [[Category: Tomizawa T]] |
| - | [[Category: Yokoyama, S]] | + | [[Category: Yokoyama S]] |
| - | [[Category: Yoshida, M]] | + | [[Category: Yoshida M]] |
| - | [[Category: 3bp-2]]
| + | |
| - | [[Category: National project on protein structural and functional analyse]]
| + | |
| - | [[Category: Nppsfa]]
| + | |
| - | [[Category: Rsgi]]
| + | |
| - | [[Category: Sh2 domain]]
| + | |
| - | [[Category: Signaling protein]]
| + | |
| Structural highlights
Disease
3BP2_HUMAN Defects in SH3BP2 are the cause of cherubism (CRBM) [MIM:118400. CRBM is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.[1] [2] [3]
Function
3BP2_HUMAN Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism.
References
- ↑ Ueki Y, Tiziani V, Santanna C, Fukai N, Maulik C, Garfinkle J, Ninomiya C, doAmaral C, Peters H, Habal M, Rhee-Morris L, Doss JB, Kreiborg S, Olsen BR, Reichenberger E. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001 Jun;28(2):125-6. PMID:11381256 doi:10.1038/88832
- ↑ Lo B, Faiyaz-Ul-Haque M, Kennedy S, Aviv R, Tsui LC, Teebi AS. Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Am J Med Genet A. 2003 Aug 15;121A(1):37-40. PMID:12900899 doi:http://dx.doi.org/10.1002/ajmg.a.20226
- ↑ Imai Y, Kanno K, Moriya T, Kayano S, Seino H, Matsubara Y, Yamada A. A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism. Cleft Palate Craniofac J. 2003 Nov;40(6):632-8. PMID:14577811
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