2knv: Difference between revisions
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{{STRUCTURE_2knv| PDB=2knv | SCENE= }} | {{STRUCTURE_2knv| PDB=2knv | SCENE= }} | ||
===NMR dimer structure of the UBA domain of p62 (SQSTM1)=== | |||
{{ABSTRACT_PUBMED_19931284}} | |||
=== | ==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> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/SQSTM_HUMAN SQSTM_HUMAN]] Required both for the formation and autophagic degradation of polyubiquitin-containing bodies, called ALIS (aggresome-like induced structures). Links ALIS to the autophagic machinery via direct interaction with MAP1 LC3 family members. May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play a role in titin/TTN downstream signaling in muscle cells. May regulate signaling cascades through ubiquitination. Adapter that mediates the interaction between TRAF6 and CYLD (By similarity). May be involved in cell differentiation, apoptosis, immune response and regulation of K(+) channels.<ref>PMID:10356400</ref><ref>PMID:10747026</ref><ref>PMID:11244088</ref><ref>PMID:12471037</ref><ref>PMID:15340068</ref><ref>PMID:16079148</ref><ref>PMID:16286508</ref><ref>PMID:15953362</ref><ref>PMID:15911346</ref><ref>PMID:15802564</ref><ref>PMID:19931284</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:019931284</ref><references group="xtra"/> | <ref group="xtra">PMID:019931284</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Long, J E.]] | [[Category: Long, J E.]] | ||
