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2k0b
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2k0b]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2K0B OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2K0B FirstGlance]. <br> | <table><tr><td colspan='2'>[[2k0b]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2K0B OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2K0B FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SQSTM1, ORCA, OSIL ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | + | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SQSTM1, ORCA, OSIL ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> |
| - | <tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2k0b FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2k0b OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2k0b RCSB], [http://www.ebi.ac.uk/pdbsum/2k0b PDBsum]</span></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=2k0b FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2k0b OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2k0b RCSB], [http://www.ebi.ac.uk/pdbsum/2k0b PDBsum]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/SQSTM_HUMAN SQSTM_HUMAN]] Defects in SQSTM1 are a cause of Paget disease of bone (PDB) [MIM:[http://omim.org/entry/602080 602080]]. PDB is a metabolic bone disease affecting the axial skeleton and characterized by focal areas of increased and disorganized bone turn-over due to activated osteoclasts. Manifestations of the disease include bone pain, deformity, pathological fractures, deafness, neurological complications and increased risk of osteosarcoma. PDB is a chronic disease affecting 2 to 3% of the population above the age of 40 years.<ref>PMID:19931284</ref> <ref>PMID:11992264</ref> <ref>PMID:12374763</ref> <ref>PMID:14584883</ref> <ref>PMID:15146436</ref> <ref>PMID:15207768</ref> <ref>PMID:15125799</ref> <ref>PMID:15176995</ref> Note=In a cell model for Huntington disease (HD), appears to form a shell surrounding aggregates of mutant HTT that may protect cells from apoptosis, possibly by recruiting autophagosomal components to the polyubiquitinylated protein aggregates.<ref>PMID:16286508</ref> | [[http://www.uniprot.org/uniprot/SQSTM_HUMAN SQSTM_HUMAN]] Defects in SQSTM1 are a cause of Paget disease of bone (PDB) [MIM:[http://omim.org/entry/602080 602080]]. PDB is a metabolic bone disease affecting the axial skeleton and characterized by focal areas of increased and disorganized bone turn-over due to activated osteoclasts. Manifestations of the disease include bone pain, deformity, pathological fractures, deafness, neurological complications and increased risk of osteosarcoma. PDB is a chronic disease affecting 2 to 3% of the population above the age of 40 years.<ref>PMID:19931284</ref> <ref>PMID:11992264</ref> <ref>PMID:12374763</ref> <ref>PMID:14584883</ref> <ref>PMID:15146436</ref> <ref>PMID:15207768</ref> <ref>PMID:15125799</ref> <ref>PMID:15176995</ref> Note=In a cell model for Huntington disease (HD), appears to form a shell surrounding aggregates of mutant HTT that may protect cells from apoptosis, possibly by recruiting autophagosomal components to the polyubiquitinylated protein aggregates.<ref>PMID:16286508</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Cavey, J R | + | [[Category: Cavey, J R]] |
| - | [[Category: Ciani, B | + | [[Category: Ciani, B]] |
| - | [[Category: Gallagher, T R.A | + | [[Category: Gallagher, T R.A]] |
| - | [[Category: Layfield, R | + | [[Category: Layfield, R]] |
| - | [[Category: Long, J E | + | [[Category: Long, J E]] |
| - | [[Category: Searle, M S | + | [[Category: Searle, M S]] |
| - | [[Category: Sheppard, P W | + | [[Category: Sheppard, P W]] |
[[Category: Apoptosis]] | [[Category: Apoptosis]] | ||
[[Category: Differentiation]] | [[Category: Differentiation]] | ||
Revision as of 16:04, 19 January 2015
NMR structure of the UBA domain of p62 (SQSTM1)
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Categories: Homo sapiens | Cavey, J R | Ciani, B | Gallagher, T R.A | Layfield, R | Long, J E | Searle, M S | Sheppard, P W | Apoptosis | Differentiation | Disease mutation | Endosome | Helical bundle | Immune response | Metal-binding | Nucleus | Phosphoprotein | Signaling protein | Three helice | Ubiquitin binding | Zinc-finger
